Incidental Mutation 'R7453:Cntrl'
| ID |
577847 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Cntrl
|
| Ensembl Gene |
ENSMUSG00000057110 |
| Gene Name |
centriolin |
| Synonyms |
IB3/5, b2b1468Clo, Cep1, 6720467O09Rik, Ma2a8, Cep110 |
| MMRRC Submission |
045527-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.915)
|
| Stock # |
R7453 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
2 |
| Chromosomal Location |
34999504-35068834 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to C
at 35045421 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Aspartic acid
at position 1376
(E1376D)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000108655
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000028237]
[ENSMUST00000113032]
[ENSMUST00000113034]
[ENSMUST00000113037]
[ENSMUST00000124081]
[ENSMUST00000156933]
|
| AlphaFold |
A2AL36 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000028237
AA Change: E1377D
PolyPhen 2
Score 0.795 (Sensitivity: 0.85; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000028237
Gene: ENSMUSG00000057110
AA Change: E1377D
| 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: E1376D
PolyPhen 2
Score 0.892 (Sensitivity: 0.82; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000108655
Gene: ENSMUSG00000057110
AA Change: E1376D
| 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 |
possibly damaging
Transcript: ENSMUST00000113034
AA Change: E824D
PolyPhen 2
Score 0.795 (Sensitivity: 0.85; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000108657
Gene: ENSMUSG00000057110
AA Change: E824D
| 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 |
possibly damaging
Transcript: ENSMUST00000113037
AA Change: E823D
PolyPhen 2
Score 0.892 (Sensitivity: 0.82; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000108660
Gene: ENSMUSG00000057110
AA Change: E823D
| 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: ENSMUST00000124081
|
| SMART Domains |
Protein: ENSMUSP00000143087
Gene: ENSMUSG00000057110
| Domain | Start | End | E-Value | Type |
|---|
|
coiled coil region
|
1 |
51 |
N/A |
INTRINSIC |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000156933
AA Change: E1377D
PolyPhen 2
Score 0.795 (Sensitivity: 0.85; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000118731
Gene: ENSMUSG00000057110
AA Change: E1377D
| 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 |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.6%
- 20x: 98.7%
|
| Validation Efficiency |
100% (122/122) |
| 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: 120 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 6430550D23Rik |
A |
G |
2: 155,845,309 (GRCm39) |
S32P |
possibly damaging |
Het |
| Acaca |
T |
C |
11: 84,136,136 (GRCm39) |
V497A |
probably benign |
Het |
| Acox1 |
T |
C |
11: 116,071,787 (GRCm39) |
T214A |
probably benign |
Het |
| Adgrb2 |
G |
A |
4: 129,908,430 (GRCm39) |
|
probably null |
Het |
| Adh1 |
G |
A |
3: 137,995,702 (GRCm39) |
|
probably null |
Het |
| Angptl1 |
G |
T |
1: 156,672,421 (GRCm39) |
M82I |
probably benign |
Het |
| Arg1 |
A |
G |
10: 24,791,674 (GRCm39) |
L269P |
probably damaging |
Het |
| Arid2 |
T |
G |
15: 96,268,605 (GRCm39) |
V906G |
probably benign |
Het |
| Arid5b |
A |
T |
10: 68,078,994 (GRCm39) |
H114Q |
probably benign |
Het |
| Atad5 |
T |
C |
11: 80,009,969 (GRCm39) |
|
probably null |
Het |
| AU040320 |
G |
A |
4: 126,729,493 (GRCm39) |
|
probably null |
Het |
| B230104I21Rik |
A |
T |
4: 154,432,185 (GRCm39) |
T44S |
unknown |
Het |
| BC024063 |
G |
A |
10: 81,945,991 (GRCm39) |
R537H |
possibly damaging |
Het |
| Bfsp2 |
A |
T |
9: 103,330,306 (GRCm39) |
L177Q |
probably damaging |
Het |
| Birc5 |
C |
A |
11: 117,743,507 (GRCm39) |
H80Q |
probably damaging |
Het |
| Bpifb9a |
T |
C |
2: 154,106,615 (GRCm39) |
L382P |
probably damaging |
Het |
| Ces2c |
A |
T |
8: 105,576,302 (GRCm39) |
N105I |
probably benign |
Het |
| Cfap91 |
A |
G |
16: 38,141,841 (GRCm39) |
S364P |
possibly damaging |
Het |
| Cflar |
G |
A |
1: 58,792,956 (GRCm39) |
V441M |
|
Het |
| Ckap4 |
A |
G |
10: 84,364,463 (GRCm39) |
V200A |
probably damaging |
Het |
| Clec16a |
C |
A |
16: 10,462,686 (GRCm39) |
T668N |
probably damaging |
Het |
| Col18a1 |
A |
T |
10: 76,921,044 (GRCm39) |
|
probably null |
Het |
| Coq2 |
T |
C |
5: 100,811,452 (GRCm39) |
Y179C |
probably benign |
Het |
| Cpne6 |
A |
G |
14: 55,749,473 (GRCm39) |
E11G |
probably benign |
Het |
| Cr2 |
A |
C |
1: 194,847,565 (GRCm39) |
|
probably null |
Het |
| Csf2rb2 |
C |
T |
15: 78,169,491 (GRCm39) |
D555N |
probably benign |
Het |
| Cyp2j12 |
A |
T |
4: 95,990,363 (GRCm39) |
V401D |
possibly damaging |
Het |
| Dbp |
C |
T |
7: 45,355,127 (GRCm39) |
A27V |
probably benign |
Het |
| Dll1 |
C |
A |
17: 15,595,151 (GRCm39) |
R42L |
probably benign |
Het |
| Dst |
C |
A |
1: 34,230,439 (GRCm39) |
H2677Q |
possibly damaging |
Het |
| Efl1 |
G |
T |
7: 82,330,675 (GRCm39) |
V283F |
possibly damaging |
Het |
| Enah |
C |
T |
1: 181,789,470 (GRCm39) |
C7Y |
unknown |
Het |
| Fam193a |
A |
T |
5: 34,621,460 (GRCm39) |
E1139V |
possibly damaging |
Het |
| Fbn1 |
G |
A |
2: 125,162,879 (GRCm39) |
P2136S |
possibly damaging |
Het |
| Fggy |
T |
C |
4: 95,485,927 (GRCm39) |
V91A |
probably damaging |
Het |
| Fn1 |
T |
A |
1: 71,630,039 (GRCm39) |
D2343V |
probably damaging |
Het |
| Galk2 |
T |
C |
2: 125,729,781 (GRCm39) |
V54A |
possibly damaging |
Het |
| Glb1l |
T |
A |
1: 75,179,350 (GRCm39) |
Y193F |
probably damaging |
Het |
| Gm45861 |
G |
T |
8: 28,031,686 (GRCm39) |
R867L |
unknown |
Het |
| Grin2b |
T |
C |
6: 135,717,947 (GRCm39) |
D715G |
possibly damaging |
Het |
| Hltf |
A |
T |
3: 20,136,916 (GRCm39) |
R384S |
possibly damaging |
Het |
| Hs3st1 |
A |
G |
5: 39,772,310 (GRCm39) |
M111T |
probably damaging |
Het |
| Idua |
A |
G |
5: 108,829,362 (GRCm39) |
T388A |
probably benign |
Het |
| Kat14 |
T |
C |
2: 144,222,654 (GRCm39) |
S136P |
possibly damaging |
Het |
| Kif24 |
A |
C |
4: 41,394,673 (GRCm39) |
C867W |
possibly damaging |
Het |
| Klhdc10 |
T |
A |
6: 30,447,989 (GRCm39) |
|
probably null |
Het |
| Klra10 |
A |
G |
6: 130,257,327 (GRCm39) |
V59A |
probably damaging |
Het |
| Limk1 |
T |
A |
5: 134,698,091 (GRCm39) |
I223F |
probably damaging |
Het |
| Lrp10 |
G |
A |
14: 54,705,913 (GRCm39) |
G368S |
probably damaging |
Het |
| Lrrc7 |
T |
C |
3: 157,891,046 (GRCm39) |
R374G |
probably benign |
Het |
| Lypd1 |
T |
A |
1: 125,801,303 (GRCm39) |
M66L |
probably benign |
Het |
| Mast4 |
C |
T |
13: 102,941,149 (GRCm39) |
|
probably null |
Het |
| Mbp |
C |
T |
18: 82,572,768 (GRCm39) |
H155Y |
probably damaging |
Het |
| Micu3 |
G |
A |
8: 40,788,939 (GRCm39) |
C150Y |
probably benign |
Het |
| Mras |
C |
T |
9: 99,271,793 (GRCm39) |
V174I |
probably benign |
Het |
| Mroh1 |
T |
A |
15: 76,317,745 (GRCm39) |
I827N |
probably damaging |
Het |
| Ms4a12 |
C |
A |
19: 11,203,026 (GRCm39) |
G101* |
probably null |
Het |
| Mylk2 |
A |
T |
2: 152,754,353 (GRCm39) |
K149M |
probably damaging |
Het |
| Myom3 |
T |
A |
4: 135,528,346 (GRCm39) |
L1064I |
probably damaging |
Het |
| Naa30 |
A |
G |
14: 49,425,144 (GRCm39) |
*365W |
probably null |
Het |
| Ncoa1 |
C |
T |
12: 4,309,307 (GRCm39) |
G1330R |
probably damaging |
Het |
| Nhlh1 |
T |
A |
1: 171,881,846 (GRCm39) |
T7S |
probably benign |
Het |
| Nipsnap3a |
A |
G |
4: 52,995,882 (GRCm39) |
Q110R |
probably benign |
Het |
| Nostrin |
T |
C |
2: 69,014,240 (GRCm39) |
Y399H |
possibly damaging |
Het |
| Nsfl1c |
C |
A |
2: 151,351,431 (GRCm39) |
T263K |
possibly damaging |
Het |
| Nup153 |
T |
C |
13: 46,834,657 (GRCm39) |
T1456A |
probably damaging |
Het |
| Or14j10 |
G |
T |
17: 37,935,276 (GRCm39) |
D83E |
probably benign |
Het |
| Or1o2 |
T |
C |
17: 37,542,871 (GRCm39) |
Y130C |
probably damaging |
Het |
| Or51e1 |
T |
A |
7: 102,358,724 (GRCm39) |
I86N |
probably damaging |
Het |
| Or52z1 |
T |
A |
7: 103,436,879 (GRCm39) |
I202F |
possibly damaging |
Het |
| Or5g26 |
T |
A |
2: 85,494,524 (GRCm39) |
M85L |
probably benign |
Het |
| Or8d1b |
A |
T |
9: 38,887,500 (GRCm39) |
H176L |
probably damaging |
Het |
| Pan3 |
G |
A |
5: 147,463,491 (GRCm39) |
|
probably null |
Het |
| Pcdhgb2 |
C |
T |
18: 37,824,068 (GRCm39) |
T353I |
probably damaging |
Het |
| Pcif1 |
A |
T |
2: 164,730,284 (GRCm39) |
H339L |
probably damaging |
Het |
| Pcif1 |
A |
G |
2: 164,731,550 (GRCm39) |
H501R |
possibly damaging |
Het |
| Pcnt |
T |
C |
10: 76,225,284 (GRCm39) |
H1740R |
probably benign |
Het |
| Polr1b |
T |
A |
2: 128,967,583 (GRCm39) |
I992N |
probably damaging |
Het |
| Ppfia2 |
C |
T |
10: 106,763,691 (GRCm39) |
T1228M |
possibly damaging |
Het |
| Ppp2r5e |
A |
G |
12: 75,509,116 (GRCm39) |
F388L |
probably damaging |
Het |
| Ptpre |
G |
T |
7: 135,139,803 (GRCm39) |
R4L |
unknown |
Het |
| Pzp |
G |
T |
6: 128,463,879 (GRCm39) |
P1410T |
probably damaging |
Het |
| Qrich1 |
A |
C |
9: 108,433,675 (GRCm39) |
K656T |
possibly damaging |
Het |
| Rabep1 |
C |
T |
11: 70,808,486 (GRCm39) |
P481S |
probably damaging |
Het |
| Rgs9 |
T |
A |
11: 109,118,094 (GRCm39) |
R579W |
probably damaging |
Het |
| Rhot1 |
T |
C |
11: 80,139,366 (GRCm39) |
|
probably null |
Het |
| Rnf123 |
T |
A |
9: 107,947,607 (GRCm39) |
|
probably null |
Het |
| Rreb1 |
T |
G |
13: 38,125,545 (GRCm39) |
C1284G |
probably damaging |
Het |
| Rsph4a |
A |
G |
10: 33,785,289 (GRCm39) |
E400G |
probably benign |
Het |
| Rufy4 |
T |
A |
1: 74,168,493 (GRCm39) |
|
probably null |
Het |
| S100pbp |
A |
G |
4: 129,075,878 (GRCm39) |
L149P |
probably damaging |
Het |
| Sall3 |
T |
C |
18: 81,015,255 (GRCm39) |
D891G |
probably benign |
Het |
| Scn10a |
C |
T |
9: 119,467,618 (GRCm39) |
V841I |
probably benign |
Het |
| Scn5a |
T |
A |
9: 119,351,656 (GRCm39) |
Y775F |
possibly damaging |
Het |
| Sec62 |
A |
T |
3: 30,863,945 (GRCm39) |
|
probably null |
Het |
| Slc24a1 |
A |
T |
9: 64,856,583 (GRCm39) |
M108K |
unknown |
Het |
| Spata22 |
T |
A |
11: 73,226,816 (GRCm39) |
|
probably null |
Het |
| Spmap2l |
A |
G |
5: 77,208,633 (GRCm39) |
H387R |
probably damaging |
Het |
| Stk4 |
A |
G |
2: 163,928,522 (GRCm39) |
N118S |
probably benign |
Het |
| Stt3a |
A |
T |
9: 36,659,266 (GRCm39) |
S358T |
possibly damaging |
Het |
| Tbc1d31 |
T |
A |
15: 57,814,391 (GRCm39) |
F531I |
probably damaging |
Het |
| Tfrc |
A |
G |
16: 32,437,867 (GRCm39) |
T307A |
probably damaging |
Het |
| Tnpo2 |
T |
C |
8: 85,781,651 (GRCm39) |
I811T |
probably damaging |
Het |
| Ttc23l |
T |
C |
15: 10,533,853 (GRCm39) |
Y230C |
probably damaging |
Het |
| Ttll13 |
A |
G |
7: 79,910,182 (GRCm39) |
D775G |
probably benign |
Het |
| Ttn |
T |
C |
2: 76,775,273 (GRCm39) |
K1969R |
unknown |
Het |
| Ube2s |
G |
A |
7: 4,813,435 (GRCm39) |
R110* |
probably null |
Het |
| Ubxn11 |
G |
A |
4: 133,853,540 (GRCm39) |
R364Q |
probably benign |
Het |
| Unc13d |
T |
C |
11: 115,958,697 (GRCm39) |
Q773R |
probably benign |
Het |
| Ush2a |
T |
C |
1: 188,285,308 (GRCm39) |
V1948A |
probably damaging |
Het |
| Vmn1r205 |
A |
T |
13: 22,776,931 (GRCm39) |
I57N |
probably damaging |
Het |
| Vmn2r69 |
GAAAA |
GAAAAA |
7: 85,060,768 (GRCm39) |
|
probably null |
Het |
| Vmn2r71 |
A |
T |
7: 85,273,297 (GRCm39) |
T704S |
probably benign |
Het |
| Vmn2r93 |
T |
A |
17: 18,533,580 (GRCm39) |
S495T |
probably benign |
Het |
| Wiz |
T |
A |
17: 32,598,049 (GRCm39) |
I102F |
probably benign |
Het |
| Zan |
A |
C |
5: 137,464,264 (GRCm39) |
L514V |
probably damaging |
Het |
| Zfp106 |
T |
A |
2: 120,341,008 (GRCm39) |
N1857I |
probably damaging |
Het |
| Zfp106 |
A |
T |
2: 120,376,400 (GRCm39) |
|
probably null |
Het |
| Zfp738 |
T |
C |
13: 67,818,474 (GRCm39) |
T506A |
probably benign |
Het |
| Zfp934 |
T |
C |
13: 62,666,517 (GRCm39) |
N53S |
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 |
|
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 |
|
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'- TAATGCATTCACTTTCTGCGTTCAG -3'
(R):5'- TGCCAGCTCCACCTATACATG -3'
Sequencing Primer
(F):5'- TCTGCGTTCAGGAGAATGAAGTG -3'
(R):5'- TTGCAGTTATGATCTAGGACATTTC -3'
|
| Posted On |
2019-10-07 |
Incidental Mutation