Incidental Mutation 'R4646:Cntrl'
| ID |
350210 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Cntrl
|
| Ensembl Gene |
ENSMUSG00000057110 |
| Gene Name |
centriolin |
| Synonyms |
IB3/5, b2b1468Clo, Cep1, 6720467O09Rik, Ma2a8, Cep110 |
| MMRRC Submission |
041907-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.915)
|
| Stock # |
R4646 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
2 |
| Chromosomal Location |
34999504-35068834 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 35039473 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Threonine
at position 557
(I557T)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000108660
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000028237]
[ENSMUST00000113032]
[ENSMUST00000113033]
[ENSMUST00000113034]
[ENSMUST00000113037]
[ENSMUST00000156933]
[ENSMUST00000201787]
|
| AlphaFold |
A2AL36 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000028237
AA Change: I1111T
PolyPhen 2
Score 0.983 (Sensitivity: 0.75; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000028237
Gene: ENSMUSG00000057110
AA Change: I1111T
| 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 |
possibly damaging
Transcript: ENSMUST00000113032
AA Change: I1110T
PolyPhen 2
Score 0.887 (Sensitivity: 0.82; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000108655
Gene: ENSMUSG00000057110
AA Change: I1110T
| 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 |
possibly damaging
Transcript: ENSMUST00000113034
AA Change: I558T
PolyPhen 2
Score 0.462 (Sensitivity: 0.89; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000108657
Gene: ENSMUSG00000057110
AA Change: I558T
| 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 damaging
Transcript: ENSMUST00000113037
AA Change: I557T
PolyPhen 2
Score 0.990 (Sensitivity: 0.72; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000108660
Gene: ENSMUSG00000057110
AA Change: I557T
| 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 |
probably benign
Transcript: ENSMUST00000123884
|
| SMART Domains |
Protein: ENSMUSP00000119760
Gene: ENSMUSG00000057110
| 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 damaging
Transcript: ENSMUST00000156933
AA Change: I1111T
PolyPhen 2
Score 0.983 (Sensitivity: 0.75; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000118731
Gene: ENSMUSG00000057110
AA Change: I1111T
| 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: ENSMUST00000201787
|
| SMART Domains |
Protein: ENSMUSP00000143914
Gene: ENSMUSG00000057110
| Domain | Start | End | E-Value | Type |
|---|
|
coiled coil region
|
9 |
71 |
N/A |
INTRINSIC |
|
| Coding Region Coverage |
- 1x: 99.0%
- 3x: 98.6%
- 10x: 97.4%
- 20x: 95.6%
|
| Validation Efficiency |
|
| 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: 102 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700031F05Rik |
G |
T |
X: 101,904,515 (GRCm39) |
N132K |
possibly damaging |
Het |
| 2010315B03Rik |
T |
A |
9: 124,056,228 (GRCm39) |
Y232F |
probably benign |
Het |
| Acadl |
A |
T |
1: 66,870,602 (GRCm39) |
S428R |
probably benign |
Het |
| Adamts10 |
A |
G |
17: 33,764,529 (GRCm39) |
D683G |
probably damaging |
Het |
| Angptl4 |
G |
A |
17: 34,000,273 (GRCm39) |
P32S |
probably benign |
Het |
| Apob |
A |
G |
12: 8,062,759 (GRCm39) |
N134S |
probably benign |
Het |
| Atr |
G |
A |
9: 95,753,250 (GRCm39) |
|
probably null |
Het |
| B4galnt1 |
G |
A |
10: 127,003,705 (GRCm39) |
V223M |
probably damaging |
Het |
| Bbs10 |
A |
G |
10: 111,136,995 (GRCm39) |
K703E |
probably benign |
Het |
| C1galt1c1 |
A |
T |
X: 37,720,349 (GRCm39) |
S216T |
probably benign |
Het |
| C2cd3 |
A |
C |
7: 100,021,657 (GRCm39) |
|
probably benign |
Het |
| Clca4b |
A |
C |
3: 144,634,286 (GRCm39) |
H102Q |
probably benign |
Het |
| Col26a1 |
G |
A |
5: 136,876,404 (GRCm39) |
S72F |
probably damaging |
Het |
| Crocc2 |
G |
A |
1: 93,096,516 (GRCm39) |
V24M |
possibly damaging |
Het |
| Csmd1 |
T |
C |
8: 15,982,511 (GRCm39) |
I2719V |
possibly damaging |
Het |
| Cul9 |
C |
T |
17: 46,849,943 (GRCm39) |
W502* |
probably null |
Het |
| Dazl |
A |
T |
17: 50,595,183 (GRCm39) |
F84I |
probably damaging |
Het |
| Dcaf1 |
G |
T |
9: 106,724,006 (GRCm39) |
R478L |
probably benign |
Het |
| Dock5 |
T |
G |
14: 68,080,228 (GRCm39) |
I198L |
probably benign |
Het |
| Dock9 |
A |
T |
14: 121,823,658 (GRCm39) |
L1428H |
probably damaging |
Het |
| Dync1li1 |
T |
A |
9: 114,538,237 (GRCm39) |
V198E |
probably damaging |
Het |
| Egf |
A |
T |
3: 129,513,925 (GRCm39) |
C429S |
probably damaging |
Het |
| Ehmt1 |
T |
C |
2: 24,781,696 (GRCm39) |
E7G |
probably null |
Het |
| Ercc4 |
G |
T |
16: 12,965,438 (GRCm39) |
R690L |
probably damaging |
Het |
| Erich5 |
T |
C |
15: 34,471,112 (GRCm39) |
C114R |
possibly damaging |
Het |
| Etv1 |
T |
C |
12: 38,915,685 (GRCm39) |
S428P |
possibly damaging |
Het |
| Fbxo31 |
G |
T |
8: 122,286,755 (GRCm39) |
F174L |
probably benign |
Het |
| Fbxo33 |
T |
A |
12: 59,251,217 (GRCm39) |
I433L |
probably benign |
Het |
| Fez2 |
A |
T |
17: 78,720,357 (GRCm39) |
V99E |
probably damaging |
Het |
| Gabarapl2 |
A |
C |
8: 112,669,185 (GRCm39) |
K48Q |
probably damaging |
Het |
| Gfi1b |
T |
A |
2: 28,500,149 (GRCm39) |
H294L |
probably damaging |
Het |
| Gk2 |
A |
G |
5: 97,604,056 (GRCm39) |
S261P |
probably damaging |
Het |
| Gpr158 |
T |
C |
2: 21,831,864 (GRCm39) |
I988T |
probably benign |
Het |
| Grk3 |
G |
C |
5: 113,077,586 (GRCm39) |
H394D |
probably benign |
Het |
| Grm6 |
A |
G |
11: 50,748,033 (GRCm39) |
E381G |
probably benign |
Het |
| Gtf3c1 |
A |
T |
7: 125,258,266 (GRCm39) |
M1268K |
possibly damaging |
Het |
| Hikeshi |
A |
T |
7: 89,572,854 (GRCm39) |
I113N |
probably damaging |
Het |
| Hmg20b |
T |
A |
10: 81,184,416 (GRCm39) |
Q129L |
probably damaging |
Het |
| Hunk |
C |
A |
16: 90,272,791 (GRCm39) |
T365K |
probably damaging |
Het |
| Ints15 |
A |
T |
5: 143,293,740 (GRCm39) |
W246R |
probably damaging |
Het |
| Kdm5a |
T |
G |
6: 120,351,938 (GRCm39) |
V176G |
possibly damaging |
Het |
| Kif2a |
T |
A |
13: 107,098,693 (GRCm39) |
E691V |
probably damaging |
Het |
| Ly6e |
T |
C |
15: 74,830,510 (GRCm39) |
|
probably null |
Het |
| Map1b |
G |
T |
13: 99,568,977 (GRCm39) |
P1248Q |
unknown |
Het |
| Mettl25 |
A |
G |
10: 105,662,416 (GRCm39) |
S185P |
probably damaging |
Het |
| Mfap3l |
T |
A |
8: 61,124,184 (GRCm39) |
V142D |
probably damaging |
Het |
| Mip |
T |
A |
10: 128,062,922 (GRCm39) |
H122Q |
probably benign |
Het |
| Mkx |
G |
A |
18: 6,992,040 (GRCm39) |
T280I |
probably benign |
Het |
| Msi1 |
A |
T |
5: 115,589,514 (GRCm39) |
|
probably null |
Het |
| Mtcl2 |
T |
C |
2: 156,862,426 (GRCm39) |
E1501G |
probably damaging |
Het |
| Muc5b |
A |
G |
7: 141,416,377 (GRCm39) |
M3108V |
probably benign |
Het |
| Mybl1 |
A |
G |
1: 9,742,511 (GRCm39) |
S625P |
probably damaging |
Het |
| Myo7b |
C |
A |
18: 32,127,422 (GRCm39) |
V627F |
probably benign |
Het |
| Ndst3 |
A |
T |
3: 123,465,684 (GRCm39) |
I96N |
probably damaging |
Het |
| Nrp1 |
A |
T |
8: 129,184,425 (GRCm39) |
T357S |
probably benign |
Het |
| Obscn |
G |
T |
11: 59,015,396 (GRCm39) |
Y1050* |
probably null |
Het |
| Or2ak7 |
A |
G |
11: 58,575,556 (GRCm39) |
N286D |
probably damaging |
Het |
| Or2d4 |
A |
T |
7: 106,543,547 (GRCm39) |
N220K |
probably benign |
Het |
| Or2y1c |
A |
C |
11: 49,361,451 (GRCm39) |
I158L |
probably benign |
Het |
| Or4c107 |
T |
A |
2: 88,789,556 (GRCm39) |
F249I |
probably damaging |
Het |
| Or5d47 |
A |
T |
2: 87,804,142 (GRCm39) |
I289K |
probably benign |
Het |
| Or5i1 |
T |
C |
2: 87,613,565 (GRCm39) |
V227A |
possibly damaging |
Het |
| Otof |
T |
C |
5: 30,540,914 (GRCm39) |
E875G |
possibly damaging |
Het |
| Pick1 |
A |
T |
15: 79,133,137 (GRCm39) |
D399V |
probably benign |
Het |
| Pik3c2g |
T |
A |
6: 139,665,744 (GRCm39) |
S22T |
probably benign |
Het |
| Pnpla2 |
A |
G |
7: 141,038,574 (GRCm39) |
E276G |
possibly damaging |
Het |
| Pomk |
A |
T |
8: 26,473,633 (GRCm39) |
S107T |
probably damaging |
Het |
| Rbm46 |
A |
T |
3: 82,771,765 (GRCm39) |
D283E |
probably benign |
Het |
| Rimbp3 |
A |
G |
16: 17,030,962 (GRCm39) |
D1462G |
probably damaging |
Het |
| Rnf112 |
T |
A |
11: 61,342,936 (GRCm39) |
E230V |
probably damaging |
Het |
| Rock1 |
T |
C |
18: 10,112,391 (GRCm39) |
T455A |
probably benign |
Het |
| Rtp4 |
A |
T |
16: 23,428,790 (GRCm39) |
M18L |
probably benign |
Het |
| Scaf11 |
A |
T |
15: 96,317,981 (GRCm39) |
|
probably null |
Het |
| Schip1 |
T |
C |
3: 67,972,297 (GRCm39) |
V8A |
probably benign |
Het |
| Sec31b |
T |
C |
19: 44,515,060 (GRCm39) |
H351R |
probably benign |
Het |
| Sh3bp5l |
A |
G |
11: 58,237,177 (GRCm39) |
D378G |
probably benign |
Het |
| Sowahb |
T |
C |
5: 93,190,715 (GRCm39) |
D668G |
probably damaging |
Het |
| Spam1 |
A |
G |
6: 24,800,586 (GRCm39) |
T442A |
probably benign |
Het |
| Syt14 |
T |
A |
1: 192,615,633 (GRCm39) |
Y451F |
probably damaging |
Het |
| Tafa5 |
T |
G |
15: 87,604,783 (GRCm39) |
S115A |
probably damaging |
Het |
| Tdh |
A |
G |
14: 63,731,205 (GRCm39) |
L323P |
possibly damaging |
Het |
| Tet2 |
A |
T |
3: 133,193,843 (GRCm39) |
M197K |
probably benign |
Het |
| Thbs1 |
G |
A |
2: 117,948,810 (GRCm39) |
A489T |
probably benign |
Het |
| Tnfaip1 |
C |
T |
11: 78,420,008 (GRCm39) |
R88Q |
probably damaging |
Het |
| Tnn |
T |
C |
1: 159,973,612 (GRCm39) |
M252V |
probably benign |
Het |
| Trdn |
G |
T |
10: 33,071,977 (GRCm39) |
E215* |
probably null |
Het |
| Trim55 |
T |
C |
3: 19,725,286 (GRCm39) |
F268L |
probably benign |
Het |
| Trmt112 |
T |
A |
19: 6,887,816 (GRCm39) |
V55E |
possibly damaging |
Het |
| Tube1 |
A |
G |
10: 39,018,363 (GRCm39) |
M147V |
possibly damaging |
Het |
| Ubn1 |
A |
G |
16: 4,895,851 (GRCm39) |
T966A |
probably damaging |
Het |
| Unc80 |
A |
G |
1: 66,708,394 (GRCm39) |
I2651V |
probably benign |
Het |
| Vmn1r172 |
G |
A |
7: 23,359,919 (GRCm39) |
R268H |
probably benign |
Het |
| Vmn1r231 |
T |
A |
17: 21,110,571 (GRCm39) |
I115F |
probably damaging |
Het |
| Vmn1r237 |
A |
G |
17: 21,534,400 (GRCm39) |
K41R |
probably benign |
Het |
| Vmn2r58 |
A |
T |
7: 41,509,935 (GRCm39) |
N547K |
probably damaging |
Het |
| Vmn2r74 |
T |
C |
7: 85,606,782 (GRCm39) |
D188G |
probably benign |
Het |
| Vwa5b2 |
A |
G |
16: 20,415,079 (GRCm39) |
K367R |
probably damaging |
Het |
| Washc4 |
T |
A |
10: 83,410,407 (GRCm39) |
M665K |
possibly damaging |
Het |
| Wbp11 |
T |
A |
6: 136,798,189 (GRCm39) |
Y236F |
probably benign |
Het |
| Wbp4 |
T |
A |
14: 79,709,801 (GRCm39) |
I145F |
possibly damaging |
Het |
| Wwc2 |
C |
A |
8: 48,373,636 (GRCm39) |
D77Y |
probably damaging |
Het |
| Zpld2 |
G |
A |
4: 133,929,459 (GRCm39) |
A282V |
probably benign |
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 |
|
R1868:Cntrl
|
UTSW |
2 |
35,019,827 (GRCm39) |
missense |
probably benign |
0.03 |
|
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 |
|
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'- AAGCATTTTAGAGTGTGGTACTAGG -3'
(R):5'- GCACCTGCTAACAAATTTGGG -3'
Sequencing Primer
(F):5'- CTAGGGGATTTGATTTTAGCAAGAC -3'
(R):5'- CACCTGCTAACAAATTTGGGGAAGG -3'
|
| Posted On |
2015-10-08 |
Incidental Mutation