Incidental Mutation 'R1868:Cntrl'
| ID |
208901 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Cntrl
|
| Ensembl Gene |
ENSMUSG00000057110 |
| Gene Name |
centriolin |
| Synonyms |
IB3/5, b2b1468Clo, Cep1, 6720467O09Rik, Ma2a8, Cep110 |
| MMRRC Submission |
039890-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.909)
|
| Stock # |
R1868 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
2 |
| Chromosomal Location |
34999504-35068834 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 35019827 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Histidine to Glutamine
at position 551
(H551Q)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000108655
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000028235]
[ENSMUST00000028237]
[ENSMUST00000113032]
[ENSMUST00000113033]
[ENSMUST00000113034]
[ENSMUST00000113037]
[ENSMUST00000156933]
[ENSMUST00000150807]
|
| AlphaFold |
A2AL36 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000028235
AA Change: H551Q
PolyPhen 2
Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
|
| SMART Domains |
Protein: ENSMUSP00000028235
Gene: ENSMUSG00000057110
AA Change: H551Q
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
21 |
38 |
N/A |
INTRINSIC |
|
LRR
|
146 |
167 |
2.54e1 |
SMART |
|
LRR
|
168 |
190 |
3.24e0 |
SMART |
|
LRR
|
192 |
214 |
7.16e0 |
SMART |
|
Blast:LRR
|
217 |
239 |
7e-6 |
BLAST |
|
low complexity region
|
275 |
292 |
N/A |
INTRINSIC |
|
coiled coil region
|
437 |
540 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000028237
AA Change: H551Q
PolyPhen 2
Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
|
| SMART Domains |
Protein: ENSMUSP00000028237
Gene: ENSMUSG00000057110
AA Change: H551Q
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
21 |
38 |
N/A |
INTRINSIC |
|
LRR
|
146 |
167 |
2.54e1 |
SMART |
|
LRR
|
168 |
190 |
3.24e0 |
SMART |
|
LRR
|
192 |
214 |
7.16e0 |
SMART |
|
Blast:LRR
|
217 |
239 |
8e-6 |
BLAST |
|
low complexity region
|
275 |
292 |
N/A |
INTRINSIC |
|
coiled coil region
|
437 |
800 |
N/A |
INTRINSIC |
|
coiled coil region
|
858 |
971 |
N/A |
INTRINSIC |
|
low complexity region
|
975 |
995 |
N/A |
INTRINSIC |
|
coiled coil region
|
998 |
1102 |
N/A |
INTRINSIC |
|
internal_repeat_1
|
1119 |
1132 |
1.95e-5 |
PROSPERO |
|
low complexity region
|
1153 |
1161 |
N/A |
INTRINSIC |
|
low complexity region
|
1268 |
1301 |
N/A |
INTRINSIC |
|
coiled coil region
|
1320 |
1629 |
N/A |
INTRINSIC |
|
coiled coil region
|
1661 |
2155 |
N/A |
INTRINSIC |
|
low complexity region
|
2193 |
2208 |
N/A |
INTRINSIC |
|
internal_repeat_1
|
2252 |
2265 |
1.95e-5 |
PROSPERO |
|
low complexity region
|
2289 |
2307 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000113032
AA Change: H551Q
PolyPhen 2
Score 0.028 (Sensitivity: 0.95; Specificity: 0.81)
|
| SMART Domains |
Protein: ENSMUSP00000108655
Gene: ENSMUSG00000057110
AA Change: H551Q
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
20 |
53 |
N/A |
INTRINSIC |
|
coiled coil region
|
72 |
381 |
N/A |
INTRINSIC |
|
coiled coil region
|
413 |
907 |
N/A |
INTRINSIC |
|
low complexity region
|
945 |
960 |
N/A |
INTRINSIC |
|
coiled coil region
|
989 |
1011 |
N/A |
INTRINSIC |
|
low complexity region
|
1041 |
1059 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000113033
|
| SMART Domains |
Protein: ENSMUSP00000108656
Gene: ENSMUSG00000057110
| Domain | Start | End | E-Value | Type |
|---|
|
coiled coil region
|
1 |
247 |
N/A |
INTRINSIC |
|
coiled coil region
|
305 |
418 |
N/A |
INTRINSIC |
|
low complexity region
|
422 |
442 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000113034
|
| SMART Domains |
Protein: ENSMUSP00000108657
Gene: ENSMUSG00000057110
| Domain | Start | End | E-Value | Type |
|---|
|
coiled coil region
|
1 |
247 |
N/A |
INTRINSIC |
|
internal_repeat_3
|
261 |
278 |
5.68e-5 |
PROSPERO |
|
coiled coil region
|
305 |
418 |
N/A |
INTRINSIC |
|
low complexity region
|
422 |
442 |
N/A |
INTRINSIC |
|
coiled coil region
|
445 |
549 |
N/A |
INTRINSIC |
|
internal_repeat_1
|
566 |
579 |
1.52e-6 |
PROSPERO |
|
internal_repeat_2
|
568 |
596 |
2.75e-5 |
PROSPERO |
|
low complexity region
|
600 |
608 |
N/A |
INTRINSIC |
|
internal_repeat_2
|
626 |
653 |
2.75e-5 |
PROSPERO |
|
low complexity region
|
715 |
748 |
N/A |
INTRINSIC |
|
coiled coil region
|
767 |
1076 |
N/A |
INTRINSIC |
|
internal_repeat_3
|
1095 |
1112 |
5.68e-5 |
PROSPERO |
|
low complexity region
|
1184 |
1224 |
N/A |
INTRINSIC |
|
low complexity region
|
1344 |
1356 |
N/A |
INTRINSIC |
|
low complexity region
|
1366 |
1388 |
N/A |
INTRINSIC |
|
low complexity region
|
1400 |
1415 |
N/A |
INTRINSIC |
|
low complexity region
|
1421 |
1432 |
N/A |
INTRINSIC |
|
low complexity region
|
1640 |
1655 |
N/A |
INTRINSIC |
|
internal_repeat_1
|
1699 |
1712 |
1.52e-6 |
PROSPERO |
|
low complexity region
|
1736 |
1754 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000113037
|
| SMART Domains |
Protein: ENSMUSP00000108660
Gene: ENSMUSG00000057110
| Domain | Start | End | E-Value | Type |
|---|
|
coiled coil region
|
1 |
247 |
N/A |
INTRINSIC |
|
internal_repeat_3
|
261 |
278 |
5.34e-5 |
PROSPERO |
|
coiled coil region
|
305 |
548 |
N/A |
INTRINSIC |
|
internal_repeat_1
|
565 |
578 |
1.42e-6 |
PROSPERO |
|
internal_repeat_2
|
567 |
595 |
2.58e-5 |
PROSPERO |
|
low complexity region
|
599 |
607 |
N/A |
INTRINSIC |
|
internal_repeat_2
|
625 |
652 |
2.58e-5 |
PROSPERO |
|
low complexity region
|
714 |
747 |
N/A |
INTRINSIC |
|
coiled coil region
|
766 |
1075 |
N/A |
INTRINSIC |
|
internal_repeat_3
|
1094 |
1111 |
5.34e-5 |
PROSPERO |
|
low complexity region
|
1183 |
1223 |
N/A |
INTRINSIC |
|
low complexity region
|
1343 |
1355 |
N/A |
INTRINSIC |
|
low complexity region
|
1365 |
1387 |
N/A |
INTRINSIC |
|
low complexity region
|
1399 |
1414 |
N/A |
INTRINSIC |
|
low complexity region
|
1420 |
1431 |
N/A |
INTRINSIC |
|
low complexity region
|
1639 |
1654 |
N/A |
INTRINSIC |
|
internal_repeat_1
|
1698 |
1711 |
1.42e-6 |
PROSPERO |
|
low complexity region
|
1735 |
1753 |
N/A |
INTRINSIC |
|
| Predicted Effect |
unknown
Transcript: ENSMUST00000123884
AA Change: H151Q
|
| SMART Domains |
Protein: ENSMUSP00000119760
Gene: ENSMUSG00000057110
AA Change: H151Q
| Domain | Start | End | E-Value | Type |
|---|
|
coiled coil region
|
37 |
400 |
N/A |
INTRINSIC |
|
coiled coil region
|
458 |
571 |
N/A |
INTRINSIC |
|
low complexity region
|
576 |
596 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000156933
AA Change: H551Q
PolyPhen 2
Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
|
| SMART Domains |
Protein: ENSMUSP00000118731
Gene: ENSMUSG00000057110
AA Change: H551Q
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
21 |
38 |
N/A |
INTRINSIC |
|
LRR
|
146 |
167 |
2.54e1 |
SMART |
|
LRR
|
168 |
190 |
3.24e0 |
SMART |
|
LRR
|
192 |
214 |
7.16e0 |
SMART |
|
Blast:LRR
|
217 |
239 |
7e-6 |
BLAST |
|
low complexity region
|
275 |
292 |
N/A |
INTRINSIC |
|
coiled coil region
|
437 |
800 |
N/A |
INTRINSIC |
|
coiled coil region
|
858 |
971 |
N/A |
INTRINSIC |
|
low complexity region
|
975 |
995 |
N/A |
INTRINSIC |
|
coiled coil region
|
998 |
1102 |
N/A |
INTRINSIC |
|
internal_repeat_1
|
1119 |
1132 |
1.65e-5 |
PROSPERO |
|
low complexity region
|
1153 |
1161 |
N/A |
INTRINSIC |
|
low complexity region
|
1268 |
1301 |
N/A |
INTRINSIC |
|
coiled coil region
|
1320 |
1629 |
N/A |
INTRINSIC |
|
coiled coil region
|
1661 |
2155 |
N/A |
INTRINSIC |
|
low complexity region
|
2193 |
2208 |
N/A |
INTRINSIC |
|
internal_repeat_1
|
2252 |
2265 |
1.65e-5 |
PROSPERO |
|
low complexity region
|
2289 |
2307 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000150807
|
| SMART Domains |
Protein: ENSMUSP00000142683
Gene: ENSMUSG00000057110
| Domain | Start | End | E-Value | Type |
|---|
|
coiled coil region
|
1 |
140 |
N/A |
INTRINSIC |
|
| Meta Mutation Damage Score |
0.0847 |
| Coding Region Coverage |
- 1x: 97.3%
- 3x: 96.8%
- 10x: 95.4%
- 20x: 93.0%
|
| Validation Efficiency |
97% (115/118) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a centrosomal protein required for the centrosome to function as a microtubule organizing center. The gene product is also associated with centrosome maturation. One version of stem cell myeloproliferative disorder is the result of a reciprocal translocation between chromosomes 8 and 9, with the breakpoint associated with fibroblast growth factor receptor 1 and centrosomal protein 1. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for an ENU-induced allele exhibit cardiac defects, including double outlet right ventricle, atrial septal defects, ventricular septal defects, tricuspid valve stenosis and heart right ventricle hypoplasia, and develop kidney cysts and hydronephrosis. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 115 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 9130230L23Rik |
A |
T |
5: 66,157,560 (GRCm39) |
M1K |
probably null |
Het |
| A630073D07Rik |
C |
T |
6: 132,603,457 (GRCm39) |
E100K |
unknown |
Het |
| Abcc3 |
T |
G |
11: 94,254,889 (GRCm39) |
D638A |
probably benign |
Het |
| Acadm |
T |
C |
3: 153,635,889 (GRCm39) |
I272V |
probably benign |
Het |
| Adam2 |
G |
A |
14: 66,315,107 (GRCm39) |
T22I |
probably damaging |
Het |
| Aldh3b1 |
G |
A |
19: 3,971,271 (GRCm39) |
|
probably benign |
Het |
| Arfgef3 |
A |
T |
10: 18,537,135 (GRCm39) |
I182K |
probably benign |
Het |
| Arhgef17 |
A |
G |
7: 100,528,184 (GRCm39) |
S677P |
probably benign |
Het |
| Atp2b1 |
T |
C |
10: 98,832,750 (GRCm39) |
V417A |
probably damaging |
Het |
| Brca1 |
T |
A |
11: 101,388,839 (GRCm39) |
H1675L |
probably benign |
Het |
| Brd10 |
A |
T |
19: 29,720,998 (GRCm39) |
S743T |
probably damaging |
Het |
| Btd |
G |
T |
14: 31,389,266 (GRCm39) |
G329V |
probably benign |
Het |
| Capsl |
T |
A |
15: 9,461,916 (GRCm39) |
L104* |
probably null |
Het |
| Cbx1 |
T |
C |
11: 96,693,554 (GRCm39) |
S107P |
probably benign |
Het |
| Cd207 |
G |
T |
6: 83,648,683 (GRCm39) |
Y326* |
probably null |
Het |
| Cenpp |
T |
C |
13: 49,794,759 (GRCm39) |
D136G |
probably damaging |
Het |
| Chsy3 |
A |
G |
18: 59,309,560 (GRCm39) |
|
probably null |
Het |
| Col14a1 |
T |
A |
15: 55,310,858 (GRCm39) |
|
probably benign |
Het |
| Cybrd1 |
T |
A |
2: 70,967,978 (GRCm39) |
F183Y |
possibly damaging |
Het |
| D5Ertd579e |
G |
A |
5: 36,773,771 (GRCm39) |
S208L |
probably damaging |
Het |
| Dlg2 |
A |
T |
7: 92,036,160 (GRCm39) |
K719* |
probably null |
Het |
| Dppa1 |
A |
T |
11: 46,516,393 (GRCm39) |
|
probably null |
Het |
| Dse |
A |
G |
10: 34,029,284 (GRCm39) |
V602A |
possibly damaging |
Het |
| Elapor2 |
T |
A |
5: 9,529,251 (GRCm39) |
I1028K |
probably damaging |
Het |
| Elmo1 |
C |
T |
13: 20,773,823 (GRCm39) |
A611V |
possibly damaging |
Het |
| Ets2 |
T |
C |
16: 95,516,118 (GRCm39) |
S233P |
probably benign |
Het |
| Fchsd2 |
G |
A |
7: 100,899,645 (GRCm39) |
|
probably benign |
Het |
| Fhip2a |
T |
C |
19: 57,374,737 (GRCm39) |
I704T |
possibly damaging |
Het |
| Fkbp4 |
T |
C |
6: 128,409,453 (GRCm39) |
R402G |
probably benign |
Het |
| G2e3 |
T |
A |
12: 51,400,412 (GRCm39) |
D21E |
probably benign |
Het |
| Gask1a |
A |
G |
9: 121,794,493 (GRCm39) |
T216A |
possibly damaging |
Het |
| Gck |
A |
T |
11: 5,852,165 (GRCm39) |
N391K |
probably damaging |
Het |
| Gm11077 |
T |
A |
6: 140,675,017 (GRCm39) |
I3N |
unknown |
Het |
| Gm6793 |
T |
C |
8: 112,741,088 (GRCm39) |
M185V |
probably benign |
Het |
| Gucy2d |
T |
A |
7: 98,103,268 (GRCm39) |
L504H |
probably damaging |
Het |
| Hat1 |
T |
A |
2: 71,251,627 (GRCm39) |
Y225* |
probably null |
Het |
| Iars2 |
A |
T |
1: 185,050,765 (GRCm39) |
D441E |
probably benign |
Het |
| Ido2 |
C |
A |
8: 25,043,776 (GRCm39) |
M92I |
possibly damaging |
Het |
| Ifne |
T |
C |
4: 88,797,908 (GRCm39) |
E170G |
probably damaging |
Het |
| Ints8 |
C |
A |
4: 11,241,684 (GRCm39) |
C253F |
probably damaging |
Het |
| Intu |
G |
T |
3: 40,618,765 (GRCm39) |
G257V |
probably damaging |
Het |
| Jakmip3 |
A |
G |
7: 138,609,316 (GRCm39) |
K140R |
probably benign |
Het |
| Kcnip3 |
T |
C |
2: 127,301,263 (GRCm39) |
E237G |
probably damaging |
Het |
| Ksr2 |
A |
C |
5: 117,643,594 (GRCm39) |
E121A |
probably benign |
Het |
| Lars1 |
T |
A |
18: 42,347,902 (GRCm39) |
I974F |
probably benign |
Het |
| Lce1b |
A |
G |
3: 92,563,318 (GRCm39) |
S72P |
unknown |
Het |
| Lhfpl4 |
T |
A |
6: 113,153,394 (GRCm39) |
D125V |
probably benign |
Het |
| Luc7l |
G |
A |
17: 26,499,030 (GRCm39) |
|
probably benign |
Het |
| Mei1 |
T |
C |
15: 82,009,154 (GRCm39) |
L833P |
probably damaging |
Het |
| Mier2 |
A |
G |
10: 79,384,664 (GRCm39) |
V150A |
probably damaging |
Het |
| Muc4 |
C |
T |
16: 32,576,715 (GRCm39) |
R2072C |
unknown |
Het |
| Myh3 |
A |
G |
11: 66,975,852 (GRCm39) |
K295E |
probably benign |
Het |
| Ndufaf5 |
A |
G |
2: 140,023,509 (GRCm39) |
I115V |
probably benign |
Het |
| Neb |
T |
C |
2: 52,216,756 (GRCm39) |
K140E |
probably damaging |
Het |
| Niban1 |
A |
G |
1: 151,517,302 (GRCm39) |
S104G |
possibly damaging |
Het |
| Npas2 |
A |
G |
1: 39,339,759 (GRCm39) |
D103G |
probably benign |
Het |
| Ntrk3 |
A |
T |
7: 77,842,352 (GRCm39) |
H825Q |
possibly damaging |
Het |
| Nup62 |
T |
A |
7: 44,478,472 (GRCm39) |
S162R |
possibly damaging |
Het |
| Or4c108 |
T |
C |
2: 88,804,128 (GRCm39) |
T36A |
possibly damaging |
Het |
| Or5g23 |
T |
A |
2: 85,438,409 (GRCm39) |
I282F |
probably damaging |
Het |
| Or5t7 |
G |
A |
2: 86,507,629 (GRCm39) |
T16I |
possibly damaging |
Het |
| Or8c8 |
A |
G |
9: 38,164,986 (GRCm39) |
E91G |
probably damaging |
Het |
| Orc4 |
A |
G |
2: 48,800,305 (GRCm39) |
M281T |
probably benign |
Het |
| Osbpl5 |
C |
A |
7: 143,269,510 (GRCm39) |
R22L |
probably damaging |
Het |
| Otos |
A |
G |
1: 92,572,185 (GRCm39) |
F47S |
probably damaging |
Het |
| Parp11 |
A |
G |
6: 127,447,740 (GRCm39) |
T25A |
probably damaging |
Het |
| Pcdhb9 |
A |
C |
18: 37,535,137 (GRCm39) |
D377A |
probably damaging |
Het |
| Pdgfra |
C |
T |
5: 75,331,534 (GRCm39) |
S348L |
probably benign |
Het |
| Pdlim5 |
C |
A |
3: 142,012,060 (GRCm39) |
|
probably null |
Het |
| Peg12 |
T |
C |
7: 62,113,416 (GRCm39) |
H227R |
probably benign |
Het |
| Piezo2 |
T |
C |
18: 63,152,415 (GRCm39) |
E2559G |
probably damaging |
Het |
| Pnisr |
C |
T |
4: 21,874,086 (GRCm39) |
|
probably benign |
Het |
| Ppa2 |
A |
T |
3: 133,053,858 (GRCm39) |
I183F |
probably damaging |
Het |
| Pramel48 |
T |
A |
5: 95,630,758 (GRCm39) |
Y212N |
probably benign |
Het |
| Prl2a1 |
T |
C |
13: 27,988,923 (GRCm39) |
L16P |
probably damaging |
Het |
| Rai14 |
C |
A |
15: 10,633,314 (GRCm39) |
Q25H |
probably damaging |
Het |
| Rapgef6 |
TG |
TGG |
11: 54,437,223 (GRCm39) |
|
probably null |
Het |
| Rbm34 |
C |
A |
8: 127,697,631 (GRCm39) |
A27S |
probably benign |
Het |
| Rchy1 |
T |
C |
5: 92,099,762 (GRCm39) |
D192G |
probably damaging |
Het |
| Rexo1 |
T |
C |
10: 80,378,754 (GRCm39) |
D1094G |
probably damaging |
Het |
| Rtl1 |
T |
A |
12: 109,556,970 (GRCm39) |
D1623V |
probably damaging |
Het |
| Ryr2 |
C |
T |
13: 11,746,586 (GRCm39) |
E1989K |
probably benign |
Het |
| Sema6c |
A |
G |
3: 95,078,124 (GRCm39) |
E500G |
probably damaging |
Het |
| Slc13a1 |
T |
A |
6: 24,117,999 (GRCm39) |
Y246F |
probably damaging |
Het |
| Slc39a9 |
C |
T |
12: 80,726,297 (GRCm39) |
L249F |
probably damaging |
Het |
| Slc6a21 |
C |
T |
7: 44,937,252 (GRCm39) |
P261S |
probably benign |
Het |
| Slco2b1 |
C |
T |
7: 99,335,243 (GRCm39) |
C179Y |
probably damaging |
Het |
| Sox6 |
T |
C |
7: 115,258,773 (GRCm39) |
N252S |
possibly damaging |
Het |
| Spr-ps1 |
C |
T |
6: 85,132,885 (GRCm39) |
|
noncoding transcript |
Het |
| Sptbn1 |
C |
A |
11: 30,064,781 (GRCm39) |
R1906L |
possibly damaging |
Het |
| Stac2 |
T |
C |
11: 97,943,771 (GRCm39) |
D13G |
probably benign |
Het |
| Stat5a |
G |
T |
11: 100,764,955 (GRCm39) |
R226L |
probably damaging |
Het |
| Suz12 |
A |
G |
11: 79,904,425 (GRCm39) |
|
probably null |
Het |
| Tas2r144 |
C |
A |
6: 42,192,936 (GRCm39) |
H225Q |
probably benign |
Het |
| Tdo2 |
T |
A |
3: 81,867,853 (GRCm39) |
M331L |
probably benign |
Het |
| Tesk1 |
T |
C |
4: 43,447,201 (GRCm39) |
W530R |
probably damaging |
Het |
| Tlr6 |
T |
C |
5: 65,112,172 (GRCm39) |
N245S |
probably benign |
Het |
| Tnfrsf11a |
G |
T |
1: 105,772,431 (GRCm39) |
A573S |
probably damaging |
Het |
| Tpbpb |
A |
T |
13: 61,050,344 (GRCm39) |
|
probably benign |
Het |
| Trim24 |
T |
A |
6: 37,928,447 (GRCm39) |
S590T |
probably damaging |
Het |
| Ttll3 |
G |
T |
6: 113,369,725 (GRCm39) |
A90S |
possibly damaging |
Het |
| Ubr5 |
A |
T |
15: 38,042,090 (GRCm39) |
S169T |
probably benign |
Het |
| Usp28 |
T |
C |
9: 48,928,007 (GRCm39) |
V363A |
probably damaging |
Het |
| Vcan |
A |
G |
13: 89,838,990 (GRCm39) |
S2185P |
probably benign |
Het |
| Vmn1r211 |
T |
C |
13: 23,035,779 (GRCm39) |
H296R |
probably benign |
Het |
| Vmn2r3 |
G |
A |
3: 64,166,537 (GRCm39) |
P865S |
probably damaging |
Het |
| Wapl |
A |
G |
14: 34,414,415 (GRCm39) |
T426A |
probably benign |
Het |
| Wdr37 |
G |
T |
13: 8,886,887 (GRCm39) |
T300K |
probably damaging |
Het |
| Wrap53 |
A |
T |
11: 69,452,990 (GRCm39) |
V439E |
probably null |
Het |
| Wrn |
A |
G |
8: 33,747,249 (GRCm39) |
S868P |
probably benign |
Het |
| Zfhx4 |
A |
G |
3: 5,477,774 (GRCm39) |
E3463G |
probably damaging |
Het |
| Zfp189 |
T |
A |
4: 49,529,283 (GRCm39) |
C129S |
possibly damaging |
Het |
| Zfp442 |
T |
C |
2: 150,250,100 (GRCm39) |
K544E |
probably damaging |
Het |
| Zfp939 |
T |
A |
7: 39,122,728 (GRCm39) |
|
noncoding transcript |
Het |
| Zfyve26 |
T |
C |
12: 79,308,573 (GRCm39) |
H228R |
possibly damaging |
Het |
|
| Other mutations in Cntrl |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00392:Cntrl
|
APN |
2 |
35,027,826 (GRCm39) |
splice site |
probably benign |
|
|
IGL00478:Cntrl
|
APN |
2 |
35,050,613 (GRCm39) |
missense |
probably damaging |
0.98 |
|
IGL01460:Cntrl
|
APN |
2 |
35,055,856 (GRCm39) |
missense |
probably benign |
0.04 |
|
IGL01556:Cntrl
|
APN |
2 |
35,063,071 (GRCm39) |
missense |
probably benign |
0.19 |
|
IGL02155:Cntrl
|
APN |
2 |
35,050,250 (GRCm39) |
splice site |
probably benign |
|
|
IGL02419:Cntrl
|
APN |
2 |
35,024,055 (GRCm39) |
missense |
probably damaging |
0.97 |
|
PIT4480001:Cntrl
|
UTSW |
2 |
35,045,440 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R0179:Cntrl
|
UTSW |
2 |
35,057,871 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0276:Cntrl
|
UTSW |
2 |
35,041,744 (GRCm39) |
missense |
possibly damaging |
0.62 |
|
R0471:Cntrl
|
UTSW |
2 |
35,017,392 (GRCm39) |
missense |
probably benign |
0.41 |
|
R0755:Cntrl
|
UTSW |
2 |
35,035,151 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0763:Cntrl
|
UTSW |
2 |
35,061,078 (GRCm39) |
missense |
probably benign |
|
|
R0781:Cntrl
|
UTSW |
2 |
35,050,639 (GRCm39) |
missense |
possibly damaging |
0.66 |
|
R0791:Cntrl
|
UTSW |
2 |
35,045,291 (GRCm39) |
missense |
possibly damaging |
0.83 |
|
R0792:Cntrl
|
UTSW |
2 |
35,045,291 (GRCm39) |
missense |
possibly damaging |
0.83 |
|
R0801:Cntrl
|
UTSW |
2 |
35,065,107 (GRCm39) |
splice site |
probably benign |
|
|
R1067:Cntrl
|
UTSW |
2 |
35,039,034 (GRCm39) |
unclassified |
probably benign |
|
|
R1110:Cntrl
|
UTSW |
2 |
35,050,639 (GRCm39) |
missense |
possibly damaging |
0.66 |
|
R1117:Cntrl
|
UTSW |
2 |
35,017,985 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1457:Cntrl
|
UTSW |
2 |
35,012,768 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1472:Cntrl
|
UTSW |
2 |
35,059,329 (GRCm39) |
critical splice donor site |
probably null |
|
|
R1522:Cntrl
|
UTSW |
2 |
35,045,291 (GRCm39) |
missense |
possibly damaging |
0.83 |
|
R1702:Cntrl
|
UTSW |
2 |
35,061,848 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R1762:Cntrl
|
UTSW |
2 |
35,012,818 (GRCm39) |
frame shift |
probably null |
|
|
R1785:Cntrl
|
UTSW |
2 |
35,012,818 (GRCm39) |
frame shift |
probably null |
|
|
R1786:Cntrl
|
UTSW |
2 |
35,012,818 (GRCm39) |
frame shift |
probably null |
|
|
R1812:Cntrl
|
UTSW |
2 |
35,039,481 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R1854:Cntrl
|
UTSW |
2 |
35,012,696 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1863:Cntrl
|
UTSW |
2 |
35,008,131 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R1914:Cntrl
|
UTSW |
2 |
35,052,873 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1915:Cntrl
|
UTSW |
2 |
35,052,873 (GRCm39) |
missense |
probably benign |
0.00 |
|
R2049:Cntrl
|
UTSW |
2 |
35,012,818 (GRCm39) |
frame shift |
probably null |
|
|
R2118:Cntrl
|
UTSW |
2 |
35,051,977 (GRCm39) |
missense |
probably benign |
0.31 |
|
R2140:Cntrl
|
UTSW |
2 |
35,012,818 (GRCm39) |
frame shift |
probably null |
|
|
R2142:Cntrl
|
UTSW |
2 |
35,012,818 (GRCm39) |
frame shift |
probably null |
|
|
R2203:Cntrl
|
UTSW |
2 |
35,033,749 (GRCm39) |
missense |
possibly damaging |
0.84 |
|
R2300:Cntrl
|
UTSW |
2 |
35,017,525 (GRCm39) |
missense |
probably benign |
0.00 |
|
R2349:Cntrl
|
UTSW |
2 |
35,066,263 (GRCm39) |
missense |
probably benign |
0.18 |
|
R2374:Cntrl
|
UTSW |
2 |
35,043,288 (GRCm39) |
missense |
possibly damaging |
0.46 |
|
R3429:Cntrl
|
UTSW |
2 |
35,035,112 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3890:Cntrl
|
UTSW |
2 |
35,060,492 (GRCm39) |
missense |
probably benign |
0.02 |
|
R3911:Cntrl
|
UTSW |
2 |
35,010,061 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3922:Cntrl
|
UTSW |
2 |
35,019,751 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R4081:Cntrl
|
UTSW |
2 |
35,065,137 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4081:Cntrl
|
UTSW |
2 |
35,051,938 (GRCm39) |
splice site |
probably benign |
|
|
R4516:Cntrl
|
UTSW |
2 |
35,017,993 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4518:Cntrl
|
UTSW |
2 |
35,038,986 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4519:Cntrl
|
UTSW |
2 |
35,063,123 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4646:Cntrl
|
UTSW |
2 |
35,039,473 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4753:Cntrl
|
UTSW |
2 |
35,043,451 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R4763:Cntrl
|
UTSW |
2 |
35,065,563 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4916:Cntrl
|
UTSW |
2 |
35,055,694 (GRCm39) |
missense |
probably benign |
0.42 |
|
R5168:Cntrl
|
UTSW |
2 |
35,047,667 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5291:Cntrl
|
UTSW |
2 |
35,024,072 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5356:Cntrl
|
UTSW |
2 |
35,038,911 (GRCm39) |
nonsense |
probably null |
|
|
R5774:Cntrl
|
UTSW |
2 |
35,052,873 (GRCm39) |
missense |
probably benign |
0.15 |
|
R5947:Cntrl
|
UTSW |
2 |
35,006,691 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6144:Cntrl
|
UTSW |
2 |
35,055,745 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R6147:Cntrl
|
UTSW |
2 |
35,055,745 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R6214:Cntrl
|
UTSW |
2 |
35,019,646 (GRCm39) |
missense |
probably benign |
0.10 |
|
R6267:Cntrl
|
UTSW |
2 |
35,019,805 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6332:Cntrl
|
UTSW |
2 |
35,018,036 (GRCm39) |
missense |
possibly damaging |
0.78 |
|
R6445:Cntrl
|
UTSW |
2 |
35,052,860 (GRCm39) |
missense |
probably benign |
0.05 |
|
R6487:Cntrl
|
UTSW |
2 |
35,012,694 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R6497:Cntrl
|
UTSW |
2 |
35,025,584 (GRCm39) |
missense |
possibly damaging |
0.66 |
|
R6782:Cntrl
|
UTSW |
2 |
35,060,658 (GRCm39) |
missense |
possibly damaging |
0.75 |
|
R6815:Cntrl
|
UTSW |
2 |
35,039,503 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6853:Cntrl
|
UTSW |
2 |
35,019,833 (GRCm39) |
missense |
possibly damaging |
0.87 |
|
R6858:Cntrl
|
UTSW |
2 |
35,052,107 (GRCm39) |
critical splice donor site |
probably null |
|
|
R6965:Cntrl
|
UTSW |
2 |
35,052,845 (GRCm39) |
missense |
probably benign |
0.20 |
|
R6970:Cntrl
|
UTSW |
2 |
35,008,149 (GRCm39) |
missense |
probably benign |
|
|
R7085:Cntrl
|
UTSW |
2 |
35,055,804 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7150:Cntrl
|
UTSW |
2 |
35,055,457 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R7213:Cntrl
|
UTSW |
2 |
35,025,692 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R7221:Cntrl
|
UTSW |
2 |
35,041,869 (GRCm39) |
missense |
possibly damaging |
0.46 |
|
R7389:Cntrl
|
UTSW |
2 |
35,017,529 (GRCm39) |
missense |
probably benign |
0.01 |
|
R7414:Cntrl
|
UTSW |
2 |
35,055,479 (GRCm39) |
missense |
probably benign |
0.02 |
|
R7427:Cntrl
|
UTSW |
2 |
35,060,546 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7428:Cntrl
|
UTSW |
2 |
35,060,546 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7453:Cntrl
|
UTSW |
2 |
35,045,421 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R7747:Cntrl
|
UTSW |
2 |
35,006,810 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7753:Cntrl
|
UTSW |
2 |
35,001,691 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7811:Cntrl
|
UTSW |
2 |
35,052,873 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7882:Cntrl
|
UTSW |
2 |
35,060,592 (GRCm39) |
missense |
probably benign |
0.41 |
|
R7919:Cntrl
|
UTSW |
2 |
35,017,413 (GRCm39) |
missense |
probably benign |
|
|
R8314:Cntrl
|
UTSW |
2 |
35,065,155 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8332:Cntrl
|
UTSW |
2 |
35,016,037 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8681:Cntrl
|
UTSW |
2 |
35,038,600 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8698:Cntrl
|
UTSW |
2 |
35,023,974 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R8717:Cntrl
|
UTSW |
2 |
35,003,351 (GRCm39) |
missense |
probably benign |
0.40 |
|
R8960:Cntrl
|
UTSW |
2 |
35,052,053 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R9036:Cntrl
|
UTSW |
2 |
35,016,071 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9617:Cntrl
|
UTSW |
2 |
35,035,077 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9621:Cntrl
|
UTSW |
2 |
35,050,278 (GRCm39) |
missense |
probably damaging |
0.96 |
|
RF007:Cntrl
|
UTSW |
2 |
35,060,512 (GRCm39) |
missense |
probably benign |
|
|
RF016:Cntrl
|
UTSW |
2 |
35,009,998 (GRCm39) |
missense |
probably benign |
|
|
RF017:Cntrl
|
UTSW |
2 |
35,065,201 (GRCm39) |
missense |
probably damaging |
0.96 |
|
X0024:Cntrl
|
UTSW |
2 |
35,037,308 (GRCm39) |
missense |
probably damaging |
1.00 |
|
X0026:Cntrl
|
UTSW |
2 |
35,039,528 (GRCm39) |
missense |
probably damaging |
1.00 |
|
X0027:Cntrl
|
UTSW |
2 |
35,055,694 (GRCm39) |
missense |
probably benign |
0.08 |
|
X0027:Cntrl
|
UTSW |
2 |
35,047,780 (GRCm39) |
missense |
probably damaging |
1.00 |
|
X0028:Cntrl
|
UTSW |
2 |
35,037,356 (GRCm39) |
missense |
possibly damaging |
0.83 |
|
| Predicted Primers |
PCR Primer
(F):5'- ACCTCCTTCTCAAGCAGTTG -3'
(R):5'- TCAAGACTAGGTGGTTCCATTTTG -3'
Sequencing Primer
(F):5'- CAGTTGAGTGGTAGACTACAACATC -3'
(R):5'- GTGGTTCCATTTTGGATATAAATG -3'
|
| Posted On |
2014-06-30 |
Incidental Mutation