Incidental Mutation 'R4916:Cntrl'
| ID |
380027 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Cntrl
|
| Ensembl Gene |
ENSMUSG00000057110 |
| Gene Name |
centriolin |
| Synonyms |
IB3/5, b2b1468Clo, Cep1, 6720467O09Rik, Ma2a8, Cep110 |
| MMRRC Submission |
042518-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.909)
|
| Stock # |
R4916 (G1)
|
| Quality Score |
189 |
|
Status
|
Not validated
|
| Chromosome |
2 |
| Chromosomal Location |
34999504-35068834 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 35055694 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Methionine
at position 1196
(T1196M)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000108660
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000028237]
[ENSMUST00000113032]
[ENSMUST00000113037]
[ENSMUST00000124081]
[ENSMUST00000156933]
|
| AlphaFold |
A2AL36 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000028237
AA Change: T1750M
PolyPhen 2
Score 0.296 (Sensitivity: 0.91; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000028237
Gene: ENSMUSG00000057110
AA Change: T1750M
| 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: T1749M
PolyPhen 2
Score 0.107 (Sensitivity: 0.93; Specificity: 0.86)
|
| SMART Domains |
Protein: ENSMUSP00000108655
Gene: ENSMUSG00000057110
AA Change: T1749M
| 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: ENSMUST00000113037
AA Change: T1196M
PolyPhen 2
Score 0.420 (Sensitivity: 0.89; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000108660
Gene: ENSMUSG00000057110
AA Change: T1196M
| 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 |
noncoding transcript
Transcript: ENSMUST00000130457
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000133209
AA Change: T225M
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000156933
AA Change: T1750M
PolyPhen 2
Score 0.296 (Sensitivity: 0.91; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000118731
Gene: ENSMUSG00000057110
AA Change: T1750M
| 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: 99.0%
- 3x: 98.2%
- 10x: 95.9%
- 20x: 91.0%
|
| 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: 106 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930595D18Rik |
G |
A |
12: 111,141,369 (GRCm39) |
Q19* |
probably null |
Het |
| 6030468B19Rik |
T |
A |
11: 117,697,092 (GRCm39) |
C230* |
probably null |
Het |
| Adcy10 |
A |
G |
1: 165,345,815 (GRCm39) |
E288G |
probably damaging |
Het |
| Adnp |
T |
A |
2: 168,029,537 (GRCm39) |
T51S |
possibly damaging |
Het |
| Agap3 |
C |
A |
5: 24,683,011 (GRCm39) |
A464D |
probably damaging |
Het |
| Ago4 |
A |
C |
4: 126,400,635 (GRCm39) |
C693G |
probably damaging |
Het |
| Ahi1 |
A |
G |
10: 20,860,303 (GRCm39) |
R675G |
probably damaging |
Het |
| Amigo1 |
T |
A |
3: 108,094,981 (GRCm39) |
L160Q |
probably damaging |
Het |
| Ankrd35 |
T |
C |
3: 96,591,438 (GRCm39) |
S575P |
probably benign |
Het |
| Ano3 |
T |
A |
2: 110,601,365 (GRCm39) |
T298S |
possibly damaging |
Het |
| Ap2b1 |
T |
G |
11: 83,281,532 (GRCm39) |
F813V |
probably damaging |
Het |
| Aplnr |
T |
G |
2: 84,967,261 (GRCm39) |
F95L |
probably damaging |
Het |
| Apobec2 |
T |
C |
17: 48,730,153 (GRCm39) |
E171G |
probably benign |
Het |
| Ascc1 |
A |
G |
10: 59,840,684 (GRCm39) |
N15S |
probably benign |
Het |
| AY358078 |
T |
A |
14: 52,040,108 (GRCm39) |
Y73N |
unknown |
Het |
| B3gnt8 |
C |
A |
7: 25,328,308 (GRCm39) |
P246Q |
probably damaging |
Het |
| C2cd2l |
T |
C |
9: 44,227,857 (GRCm39) |
Q250R |
probably damaging |
Het |
| Camk2d |
T |
C |
3: 126,577,624 (GRCm39) |
Y180H |
probably damaging |
Het |
| Ccdc170 |
A |
G |
10: 4,468,971 (GRCm39) |
E167G |
probably damaging |
Het |
| Cdcp3 |
T |
A |
7: 130,776,206 (GRCm39) |
|
probably null |
Het |
| Cdyl2 |
A |
G |
8: 117,305,926 (GRCm39) |
M445T |
probably damaging |
Het |
| Clca3a1 |
T |
C |
3: 144,721,605 (GRCm39) |
D322G |
probably benign |
Het |
| Cnot10 |
C |
T |
9: 114,458,202 (GRCm39) |
M101I |
possibly damaging |
Het |
| Cybb |
C |
G |
X: 9,316,989 (GRCm39) |
D246H |
probably benign |
Het |
| Dcaf6 |
T |
C |
1: 165,247,774 (GRCm39) |
D153G |
probably damaging |
Het |
| Dennd2c |
G |
A |
3: 103,039,140 (GRCm39) |
G96E |
probably benign |
Het |
| Dhrs9 |
T |
C |
2: 69,231,752 (GRCm39) |
F304S |
probably damaging |
Het |
| Dmxl1 |
T |
C |
18: 50,010,764 (GRCm39) |
S974P |
probably damaging |
Het |
| Dnah6 |
T |
C |
6: 73,169,659 (GRCm39) |
|
probably benign |
Het |
| Dnah7c |
T |
C |
1: 46,634,168 (GRCm39) |
L1049P |
probably damaging |
Het |
| Dnajc2 |
T |
C |
5: 21,962,338 (GRCm39) |
K621E |
probably damaging |
Het |
| Ehbp1 |
T |
C |
11: 22,096,592 (GRCm39) |
D299G |
probably benign |
Het |
| Erap1 |
A |
G |
13: 74,794,647 (GRCm39) |
E102G |
probably benign |
Het |
| Fasn |
T |
G |
11: 120,707,472 (GRCm39) |
N799T |
probably benign |
Het |
| Fbxl20 |
T |
C |
11: 98,019,186 (GRCm39) |
D22G |
probably damaging |
Het |
| Fgfr1 |
T |
C |
8: 26,053,542 (GRCm39) |
|
probably null |
Het |
| Frzb |
A |
T |
2: 80,276,871 (GRCm39) |
I105N |
probably damaging |
Het |
| Gabrb1 |
T |
A |
5: 72,026,764 (GRCm39) |
F55Y |
probably damaging |
Het |
| Gatd1 |
G |
T |
7: 140,989,010 (GRCm39) |
C216* |
probably null |
Het |
| Gnl2 |
A |
C |
4: 124,937,485 (GRCm39) |
N255T |
probably damaging |
Het |
| Golgb1 |
A |
T |
16: 36,736,480 (GRCm39) |
Q1909L |
probably benign |
Het |
| Gpnmb |
T |
C |
6: 49,028,904 (GRCm39) |
L474P |
probably damaging |
Het |
| H60b |
T |
C |
10: 22,163,115 (GRCm39) |
V230A |
possibly damaging |
Het |
| Hmcn2 |
T |
A |
2: 31,250,992 (GRCm39) |
V818D |
probably damaging |
Het |
| Irag2 |
C |
A |
6: 145,111,027 (GRCm39) |
S277R |
probably damaging |
Het |
| Itprid1 |
C |
T |
6: 55,955,175 (GRCm39) |
P928S |
possibly damaging |
Het |
| Jade2 |
G |
T |
11: 51,707,909 (GRCm39) |
T768K |
probably benign |
Het |
| Kif28 |
T |
C |
1: 179,530,085 (GRCm39) |
H692R |
probably benign |
Het |
| Kmt2b |
T |
C |
7: 30,277,942 (GRCm39) |
N1634S |
probably damaging |
Het |
| Knop1 |
A |
G |
7: 118,445,299 (GRCm39) |
W222R |
probably damaging |
Het |
| Map1b |
T |
C |
13: 99,569,808 (GRCm39) |
D971G |
unknown |
Het |
| Mapk7 |
G |
T |
11: 61,384,475 (GRCm39) |
T77K |
probably damaging |
Het |
| Mcm6 |
A |
G |
1: 128,276,714 (GRCm39) |
L292P |
probably damaging |
Het |
| Megf8 |
T |
C |
7: 25,039,089 (GRCm39) |
L900P |
probably benign |
Het |
| Meis1 |
G |
A |
11: 18,831,776 (GRCm39) |
H421Y |
possibly damaging |
Het |
| Minar2 |
A |
T |
18: 59,205,277 (GRCm39) |
I22F |
probably damaging |
Het |
| Mllt1 |
T |
C |
17: 57,206,813 (GRCm39) |
T344A |
probably benign |
Het |
| Mta1 |
T |
A |
12: 113,100,160 (GRCm39) |
S657T |
probably benign |
Het |
| Mtus1 |
C |
A |
8: 41,453,838 (GRCm39) |
K998N |
probably damaging |
Het |
| Ncdn |
G |
A |
4: 126,643,731 (GRCm39) |
L364F |
possibly damaging |
Het |
| Ndufb7 |
T |
C |
8: 84,297,534 (GRCm39) |
L63P |
probably damaging |
Het |
| Nfix |
T |
C |
8: 85,498,458 (GRCm39) |
I172V |
probably benign |
Het |
| Nos1 |
T |
C |
5: 118,085,635 (GRCm39) |
|
probably null |
Het |
| Nrp1 |
C |
A |
8: 129,229,285 (GRCm39) |
S921* |
probably null |
Het |
| Oma1 |
T |
C |
4: 103,176,727 (GRCm39) |
|
probably null |
Het |
| Or3a1b |
A |
T |
11: 74,012,705 (GRCm39) |
I197F |
probably benign |
Het |
| Or5b106 |
T |
A |
19: 13,123,355 (GRCm39) |
I223L |
possibly damaging |
Het |
| Pcp2 |
T |
A |
8: 3,675,534 (GRCm39) |
|
probably benign |
Het |
| Pdk4 |
T |
A |
6: 5,489,157 (GRCm39) |
H250L |
possibly damaging |
Het |
| Phldb3 |
A |
G |
7: 24,323,716 (GRCm39) |
H449R |
probably benign |
Het |
| Pip4k2c |
T |
C |
10: 127,035,196 (GRCm39) |
T391A |
possibly damaging |
Het |
| Polrmt |
A |
G |
10: 79,582,385 (GRCm39) |
M1T |
probably null |
Het |
| Ppfia2 |
G |
C |
10: 106,597,978 (GRCm39) |
L180F |
probably damaging |
Het |
| Prkcg |
T |
G |
7: 3,378,781 (GRCm39) |
Y624* |
probably null |
Het |
| Psmg2 |
A |
G |
18: 67,781,926 (GRCm39) |
E164G |
probably damaging |
Het |
| Rb1 |
A |
T |
14: 73,454,131 (GRCm39) |
L589H |
probably damaging |
Het |
| Rcvrn |
A |
T |
11: 67,586,591 (GRCm39) |
I117F |
probably damaging |
Het |
| Rere |
T |
A |
4: 150,703,601 (GRCm39) |
W1528R |
probably damaging |
Het |
| Robo2 |
A |
G |
16: 73,695,803 (GRCm39) |
S1447P |
possibly damaging |
Het |
| Scfd2 |
C |
A |
5: 74,623,319 (GRCm39) |
G405W |
probably damaging |
Het |
| Scin |
T |
A |
12: 40,119,373 (GRCm39) |
I552F |
possibly damaging |
Het |
| Serpina3k |
G |
A |
12: 104,309,269 (GRCm39) |
V238M |
probably damaging |
Het |
| Slc1a6 |
G |
A |
10: 78,632,085 (GRCm39) |
V304M |
probably damaging |
Het |
| Slc20a2 |
C |
T |
8: 23,051,020 (GRCm39) |
S351L |
probably damaging |
Het |
| Slc31a2 |
T |
C |
4: 62,215,325 (GRCm39) |
V124A |
probably damaging |
Het |
| Slc38a3 |
T |
C |
9: 107,533,426 (GRCm39) |
N244S |
probably benign |
Het |
| Slc4a1 |
A |
G |
11: 102,243,279 (GRCm39) |
V784A |
probably damaging |
Het |
| Slc6a5 |
T |
C |
7: 49,598,004 (GRCm39) |
F623L |
probably benign |
Het |
| Slf2 |
T |
G |
19: 44,960,100 (GRCm39) |
D1022E |
probably damaging |
Het |
| Slfn8 |
G |
A |
11: 82,907,704 (GRCm39) |
H280Y |
probably damaging |
Het |
| Smpdl3a |
A |
T |
10: 57,677,127 (GRCm39) |
D45V |
probably damaging |
Het |
| Ssh3 |
T |
C |
19: 4,315,170 (GRCm39) |
E342G |
probably damaging |
Het |
| Tacr1 |
A |
T |
6: 82,531,922 (GRCm39) |
I273F |
probably benign |
Het |
| Tfg |
T |
A |
16: 56,514,759 (GRCm39) |
|
probably null |
Het |
| Tmem179 |
A |
G |
12: 112,468,268 (GRCm39) |
L71P |
probably damaging |
Het |
| Tmem63a |
T |
A |
1: 180,794,086 (GRCm39) |
I541N |
probably benign |
Het |
| Traj20 |
G |
A |
14: 54,436,924 (GRCm39) |
|
probably benign |
Het |
| Trappc13 |
A |
T |
13: 104,290,802 (GRCm39) |
|
probably null |
Het |
| Ttn |
A |
T |
2: 76,641,587 (GRCm39) |
L5176Q |
possibly damaging |
Het |
| Tulp1 |
A |
G |
17: 28,578,109 (GRCm39) |
L310P |
probably damaging |
Het |
| Ube3d |
A |
G |
9: 86,304,925 (GRCm39) |
Y306H |
probably damaging |
Het |
| Urb1 |
A |
T |
16: 90,580,216 (GRCm39) |
V649E |
probably damaging |
Het |
| Vps13d |
A |
G |
4: 144,709,963 (GRCm39) |
L4211P |
probably damaging |
Het |
| Vwa5b1 |
T |
A |
4: 138,321,573 (GRCm39) |
I407F |
possibly damaging |
Het |
| Vwce |
G |
T |
19: 10,624,243 (GRCm39) |
C378F |
probably damaging |
Het |
| Zfp791 |
T |
A |
8: 85,837,580 (GRCm39) |
I95L |
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 |
|
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'- CAAACCCTGACCCTGTTTTG -3'
(R):5'- CGTGGGAAGACTTCTTTTCCC -3'
Sequencing Primer
(F):5'- CAAGGTCTGAAGCTCCAGCATG -3'
(R):5'- GGGAAGACTTCTTTTCCCAGCTC -3'
|
| Posted On |
2016-04-15 |
Incidental Mutation