Incidental Mutation 'R8871:Crybg3'
ID |
676322 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Crybg3
|
Ensembl Gene |
ENSMUSG00000022723 |
Gene Name |
beta-gamma crystallin domain containing 3 |
Synonyms |
Gm9581 |
MMRRC Submission |
068685-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.138)
|
Stock # |
R8871 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
16 |
Chromosomal Location |
59312451-59421410 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 59378519 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Asparagine to Aspartic acid
at position 912
(N912D)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000156047
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000044604]
[ENSMUST00000172910]
|
AlphaFold |
no structure available at present |
Predicted Effect |
probably benign
Transcript: ENSMUST00000044604
|
SMART Domains |
Protein: ENSMUSP00000037682 Gene: ENSMUSG00000022723
Domain | Start | End | E-Value | Type |
low complexity region
|
258 |
273 |
N/A |
INTRINSIC |
low complexity region
|
282 |
290 |
N/A |
INTRINSIC |
XTALbg
|
430 |
516 |
2.78e-4 |
SMART |
Pfam:Crystall
|
536 |
599 |
3.3e-7 |
PFAM |
XTALbg
|
614 |
699 |
1.2e-21 |
SMART |
XTALbg
|
707 |
790 |
5.73e-19 |
SMART |
XTALbg
|
803 |
881 |
6.87e-5 |
SMART |
XTALbg
|
889 |
969 |
1.28e-7 |
SMART |
RICIN
|
972 |
1104 |
8.16e-14 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000172910
AA Change: N912D
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.3%
- 20x: 97.3%
|
Validation Efficiency |
99% (76/77) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 81 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abca13 |
T |
G |
11: 9,248,071 (GRCm39) |
M2606R |
probably benign |
Het |
Abcg5 |
C |
T |
17: 84,990,295 (GRCm39) |
E3K |
probably benign |
Het |
Adam20 |
A |
C |
8: 41,248,601 (GRCm39) |
H237P |
probably damaging |
Het |
Alg3 |
T |
C |
16: 20,424,684 (GRCm39) |
Y361C |
probably damaging |
Het |
Ano8 |
A |
T |
8: 71,931,944 (GRCm39) |
Y752N |
probably benign |
Het |
AW551984 |
A |
T |
9: 39,500,998 (GRCm39) |
L759* |
probably null |
Het |
Bdp1 |
A |
C |
13: 100,186,175 (GRCm39) |
V1759G |
probably damaging |
Het |
Bicdl2 |
C |
A |
17: 23,885,777 (GRCm39) |
Q273K |
probably damaging |
Het |
Cc2d2a |
A |
T |
5: 43,857,285 (GRCm39) |
T491S |
possibly damaging |
Het |
Cdkl2 |
A |
G |
5: 92,164,989 (GRCm39) |
S545P |
possibly damaging |
Het |
Ceacam5 |
T |
A |
7: 17,494,827 (GRCm39) |
I945K |
probably benign |
Het |
Celf1 |
A |
G |
2: 90,840,840 (GRCm39) |
Y369C |
probably damaging |
Het |
Cmtm1 |
TCCGGGTACTGAAGGTCCCTGGCTGGCTGGTGTCCCGGGTACTGAAGGTCCCTGGCTGGCTGGTGTCCCGGGTACTGAAGGTCCCTGGCTGGCTGGTGTCCCGGGTACTGAAGGTCCCTGGCTGGCTGGTGTCCCGGGTACTGAAGGTCCCTGG |
TCCGGGTACTGAAGGTCCCTGGCTGGCTGGTGTCCCGGGTACTGAAGGTCCCTGGCTGGCTGGTGTCCCGGGTACTGAAGGTCCCTGGCTGGCTGGTGTCCCGGGTACTGAAGGTCCCTGG |
8: 105,036,334 (GRCm39) |
|
probably null |
Het |
Col14a1 |
T |
G |
15: 55,245,958 (GRCm39) |
D487E |
unknown |
Het |
Cstl1 |
A |
G |
2: 148,596,554 (GRCm39) |
T86A |
probably damaging |
Het |
Dixdc1 |
C |
T |
9: 50,595,096 (GRCm39) |
V482M |
possibly damaging |
Het |
Dmbt1 |
T |
C |
7: 130,718,597 (GRCm39) |
Y1773H |
unknown |
Het |
Dock4 |
T |
C |
12: 40,795,730 (GRCm39) |
I849T |
probably benign |
Het |
Fbln2 |
A |
T |
6: 91,233,215 (GRCm39) |
|
probably null |
Het |
Fbxo16 |
A |
G |
14: 65,531,348 (GRCm39) |
E84G |
probably damaging |
Het |
Fras1 |
T |
A |
5: 96,855,257 (GRCm39) |
V1922D |
probably benign |
Het |
G6pc3 |
A |
G |
11: 102,082,896 (GRCm39) |
H85R |
probably damaging |
Het |
Galc |
A |
T |
12: 98,212,543 (GRCm39) |
N197K |
probably damaging |
Het |
Galnt12 |
T |
G |
4: 47,108,582 (GRCm39) |
|
probably null |
Het |
Gm10220 |
T |
A |
5: 26,322,863 (GRCm39) |
Q183L |
probably benign |
Het |
Gxylt2 |
A |
G |
6: 100,760,109 (GRCm39) |
T215A |
probably damaging |
Het |
Hnrnpf |
T |
G |
6: 117,900,811 (GRCm39) |
S32A |
probably benign |
Het |
Hspa1l |
T |
C |
17: 35,197,799 (GRCm39) |
Y613H |
probably benign |
Het |
Il1r2 |
T |
A |
1: 40,144,424 (GRCm39) |
V37D |
probably benign |
Het |
Itga11 |
C |
A |
9: 62,668,823 (GRCm39) |
Y693* |
probably null |
Het |
Itgax |
T |
A |
7: 127,735,223 (GRCm39) |
F459L |
probably damaging |
Het |
Jph1 |
A |
G |
1: 17,067,719 (GRCm39) |
V656A |
possibly damaging |
Het |
Kcnn4 |
A |
T |
7: 24,083,500 (GRCm39) |
I394F |
possibly damaging |
Het |
Kdelr3 |
T |
A |
15: 79,410,044 (GRCm39) |
Y176* |
probably null |
Het |
Kif13a |
T |
C |
13: 46,984,279 (GRCm39) |
D162G |
probably damaging |
Het |
Klhdc8b |
G |
A |
9: 108,326,871 (GRCm39) |
P164S |
probably damaging |
Het |
Lmbrd1 |
A |
T |
1: 24,783,435 (GRCm39) |
Q357L |
probably damaging |
Het |
Lrrc37a |
T |
C |
11: 103,347,375 (GRCm39) |
M3107V |
unknown |
Het |
Mllt3 |
ACTGCTGCTGCTGCTGCTGCTGCTACTGCTGCTGCTGCTGCTGCT |
ACTGCTGCTGCTGCTGCTGCTACTGCTGCTGCTGCTGCTGCT |
4: 87,759,552 (GRCm39) |
|
probably benign |
Het |
Muc16 |
C |
A |
9: 18,567,344 (GRCm39) |
G1725V |
unknown |
Het |
Myo5c |
T |
C |
9: 75,185,585 (GRCm39) |
S983P |
probably benign |
Het |
Naip1 |
G |
A |
13: 100,580,146 (GRCm39) |
H217Y |
probably damaging |
Het |
Nlrc3 |
T |
C |
16: 3,781,968 (GRCm39) |
|
probably benign |
Het |
Nrl |
A |
T |
14: 55,758,184 (GRCm39) |
L181Q |
probably damaging |
Het |
Olig1 |
T |
C |
16: 91,067,545 (GRCm39) |
*261R |
probably null |
Het |
Or12k5 |
T |
C |
2: 36,895,060 (GRCm39) |
T189A |
probably benign |
Het |
Or2l13b |
T |
C |
16: 19,349,536 (GRCm39) |
I45V |
|
Het |
Or8j3c |
T |
C |
2: 86,253,697 (GRCm39) |
M108V |
probably benign |
Het |
Oscp1 |
T |
A |
4: 125,952,535 (GRCm39) |
L21Q |
probably damaging |
Het |
Oxct1 |
G |
A |
15: 4,064,763 (GRCm39) |
V34I |
probably benign |
Het |
Pdzph1 |
A |
G |
17: 59,195,033 (GRCm39) |
L1074P |
probably damaging |
Het |
Pkd1l1 |
T |
A |
11: 8,900,503 (GRCm39) |
S463C |
|
Het |
Pnpla3 |
G |
A |
15: 84,063,509 (GRCm39) |
E296K |
probably benign |
Het |
Prss35 |
T |
G |
9: 86,637,244 (GRCm39) |
L5V |
possibly damaging |
Het |
Rbck1 |
T |
C |
2: 152,164,096 (GRCm39) |
E336G |
possibly damaging |
Het |
Rgl2 |
G |
A |
17: 34,153,974 (GRCm39) |
R460Q |
probably damaging |
Het |
Rmi1 |
T |
A |
13: 58,557,156 (GRCm39) |
N468K |
probably benign |
Het |
Rptor |
T |
A |
11: 119,494,751 (GRCm39) |
I39N |
probably benign |
Het |
S1pr1 |
A |
G |
3: 115,505,628 (GRCm39) |
F322S |
probably damaging |
Het |
Scgb1b10 |
T |
A |
7: 31,800,544 (GRCm39) |
Y44* |
probably null |
Het |
Setx |
A |
G |
2: 29,038,114 (GRCm39) |
D1533G |
probably benign |
Het |
Sf3b1 |
A |
G |
1: 55,029,508 (GRCm39) |
Y1165H |
probably damaging |
Het |
Sgcz |
A |
T |
8: 38,420,103 (GRCm39) |
Y50N |
probably damaging |
Het |
Sh3gl2 |
C |
A |
4: 85,305,817 (GRCm39) |
P227Q |
|
Het |
She |
T |
C |
3: 89,759,795 (GRCm39) |
|
probably null |
Het |
Slc9a4 |
T |
C |
1: 40,642,015 (GRCm39) |
I328T |
probably damaging |
Het |
Sort1 |
G |
A |
3: 108,262,887 (GRCm39) |
|
probably null |
Het |
Srebf1 |
A |
G |
11: 60,091,595 (GRCm39) |
S977P |
probably benign |
Het |
Srsf9 |
T |
C |
5: 115,468,712 (GRCm39) |
V116A |
probably damaging |
Het |
Tex15 |
G |
A |
8: 34,066,992 (GRCm39) |
V2141I |
possibly damaging |
Het |
Tmprss13 |
A |
T |
9: 45,249,704 (GRCm39) |
H347L |
probably damaging |
Het |
Trpv4 |
A |
G |
5: 114,768,511 (GRCm39) |
F519S |
probably benign |
Het |
Trrap |
A |
G |
5: 144,758,649 (GRCm39) |
T2159A |
probably benign |
Het |
Vmn1r36 |
A |
T |
6: 66,693,442 (GRCm39) |
Y144* |
probably null |
Het |
Vmn2r10 |
A |
G |
5: 109,146,899 (GRCm39) |
I463T |
possibly damaging |
Het |
Vps13a |
T |
A |
19: 16,641,186 (GRCm39) |
N2312I |
probably damaging |
Het |
Wdr81 |
A |
T |
11: 75,343,919 (GRCm39) |
Y449* |
probably null |
Het |
Zfhx3 |
A |
G |
8: 109,676,867 (GRCm39) |
D2639G |
possibly damaging |
Het |
Zfp120 |
A |
G |
2: 149,959,995 (GRCm39) |
V131A |
probably benign |
Het |
Zfp574 |
G |
T |
7: 24,780,562 (GRCm39) |
C528F |
probably damaging |
Het |
Zfp947 |
A |
T |
17: 22,364,695 (GRCm39) |
N326K |
probably benign |
Het |
|
Other mutations in Crybg3 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00516:Crybg3
|
APN |
16 |
59,350,803 (GRCm39) |
missense |
probably benign |
0.15 |
IGL01305:Crybg3
|
APN |
16 |
59,349,590 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01809:Crybg3
|
APN |
16 |
59,345,216 (GRCm39) |
critical splice donor site |
probably benign |
0.00 |
IGL02247:Crybg3
|
APN |
16 |
59,323,513 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02252:Crybg3
|
APN |
16 |
59,372,887 (GRCm39) |
splice site |
probably benign |
|
IGL03036:Crybg3
|
APN |
16 |
59,375,542 (GRCm39) |
missense |
possibly damaging |
0.68 |
IGL03202:Crybg3
|
APN |
16 |
59,315,072 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL03232:Crybg3
|
APN |
16 |
59,350,731 (GRCm39) |
missense |
probably damaging |
1.00 |
ANU22:Crybg3
|
UTSW |
16 |
59,349,590 (GRCm39) |
missense |
probably damaging |
1.00 |
R0052:Crybg3
|
UTSW |
16 |
59,386,019 (GRCm39) |
splice site |
probably benign |
|
R0335:Crybg3
|
UTSW |
16 |
59,364,503 (GRCm39) |
missense |
probably damaging |
1.00 |
R0691:Crybg3
|
UTSW |
16 |
59,385,574 (GRCm39) |
critical splice donor site |
probably null |
|
R1511:Crybg3
|
UTSW |
16 |
59,374,475 (GRCm39) |
missense |
probably benign |
0.01 |
R1579:Crybg3
|
UTSW |
16 |
59,350,561 (GRCm39) |
missense |
probably damaging |
1.00 |
R1965:Crybg3
|
UTSW |
16 |
59,323,600 (GRCm39) |
missense |
probably damaging |
1.00 |
R1982:Crybg3
|
UTSW |
16 |
59,364,488 (GRCm39) |
missense |
possibly damaging |
0.85 |
R2225:Crybg3
|
UTSW |
16 |
59,375,041 (GRCm39) |
missense |
probably damaging |
1.00 |
R4074:Crybg3
|
UTSW |
16 |
59,376,120 (GRCm39) |
unclassified |
probably benign |
|
R4210:Crybg3
|
UTSW |
16 |
59,364,414 (GRCm39) |
missense |
probably damaging |
1.00 |
R4393:Crybg3
|
UTSW |
16 |
59,380,458 (GRCm39) |
unclassified |
probably benign |
|
R4394:Crybg3
|
UTSW |
16 |
59,380,458 (GRCm39) |
unclassified |
probably benign |
|
R4397:Crybg3
|
UTSW |
16 |
59,380,458 (GRCm39) |
unclassified |
probably benign |
|
R4427:Crybg3
|
UTSW |
16 |
59,363,562 (GRCm39) |
missense |
probably damaging |
1.00 |
R4578:Crybg3
|
UTSW |
16 |
59,350,564 (GRCm39) |
missense |
probably damaging |
1.00 |
R4720:Crybg3
|
UTSW |
16 |
59,360,180 (GRCm39) |
missense |
probably damaging |
1.00 |
R4917:Crybg3
|
UTSW |
16 |
59,350,782 (GRCm39) |
missense |
probably benign |
0.14 |
R5007:Crybg3
|
UTSW |
16 |
59,378,463 (GRCm39) |
unclassified |
probably benign |
|
R5020:Crybg3
|
UTSW |
16 |
59,375,159 (GRCm39) |
missense |
possibly damaging |
0.55 |
R5155:Crybg3
|
UTSW |
16 |
59,345,264 (GRCm39) |
missense |
possibly damaging |
0.91 |
R5306:Crybg3
|
UTSW |
16 |
59,380,356 (GRCm39) |
unclassified |
probably benign |
|
R5342:Crybg3
|
UTSW |
16 |
59,342,512 (GRCm39) |
missense |
probably damaging |
1.00 |
R5687:Crybg3
|
UTSW |
16 |
59,379,529 (GRCm39) |
missense |
probably benign |
0.00 |
R5763:Crybg3
|
UTSW |
16 |
59,374,973 (GRCm39) |
missense |
possibly damaging |
0.74 |
R5860:Crybg3
|
UTSW |
16 |
59,385,632 (GRCm39) |
missense |
probably damaging |
1.00 |
R5950:Crybg3
|
UTSW |
16 |
59,313,934 (GRCm39) |
unclassified |
probably benign |
|
R6007:Crybg3
|
UTSW |
16 |
59,374,837 (GRCm39) |
nonsense |
probably null |
|
R6042:Crybg3
|
UTSW |
16 |
59,370,838 (GRCm39) |
missense |
possibly damaging |
0.70 |
R6049:Crybg3
|
UTSW |
16 |
59,364,417 (GRCm39) |
missense |
probably benign |
0.00 |
R6242:Crybg3
|
UTSW |
16 |
59,376,053 (GRCm39) |
missense |
probably benign |
|
R6301:Crybg3
|
UTSW |
16 |
59,350,701 (GRCm39) |
missense |
probably damaging |
1.00 |
R6408:Crybg3
|
UTSW |
16 |
59,316,053 (GRCm39) |
missense |
possibly damaging |
0.71 |
R6724:Crybg3
|
UTSW |
16 |
59,364,501 (GRCm39) |
missense |
probably benign |
0.13 |
R6745:Crybg3
|
UTSW |
16 |
59,372,607 (GRCm39) |
missense |
possibly damaging |
0.93 |
R6777:Crybg3
|
UTSW |
16 |
59,378,678 (GRCm39) |
unclassified |
probably benign |
|
R6843:Crybg3
|
UTSW |
16 |
59,380,159 (GRCm39) |
missense |
probably benign |
0.22 |
R6914:Crybg3
|
UTSW |
16 |
59,360,183 (GRCm39) |
missense |
possibly damaging |
0.89 |
R6942:Crybg3
|
UTSW |
16 |
59,360,183 (GRCm39) |
missense |
possibly damaging |
0.89 |
R7033:Crybg3
|
UTSW |
16 |
59,374,528 (GRCm39) |
missense |
probably damaging |
1.00 |
R7091:Crybg3
|
UTSW |
16 |
59,377,531 (GRCm39) |
missense |
possibly damaging |
0.77 |
R7133:Crybg3
|
UTSW |
16 |
59,357,167 (GRCm39) |
missense |
probably damaging |
1.00 |
R7193:Crybg3
|
UTSW |
16 |
59,379,956 (GRCm39) |
missense |
possibly damaging |
0.87 |
R7204:Crybg3
|
UTSW |
16 |
59,379,253 (GRCm39) |
missense |
probably benign |
0.00 |
R7398:Crybg3
|
UTSW |
16 |
59,377,688 (GRCm39) |
missense |
probably benign |
0.38 |
R7666:Crybg3
|
UTSW |
16 |
59,379,700 (GRCm39) |
nonsense |
probably null |
|
R7691:Crybg3
|
UTSW |
16 |
59,376,497 (GRCm39) |
missense |
not run |
|
R7714:Crybg3
|
UTSW |
16 |
59,379,236 (GRCm39) |
missense |
probably benign |
0.19 |
R7860:Crybg3
|
UTSW |
16 |
59,375,605 (GRCm39) |
missense |
probably benign |
0.04 |
R7901:Crybg3
|
UTSW |
16 |
59,377,907 (GRCm39) |
missense |
probably damaging |
0.98 |
R8371:Crybg3
|
UTSW |
16 |
59,377,414 (GRCm39) |
missense |
probably benign |
0.00 |
R8394:Crybg3
|
UTSW |
16 |
59,378,651 (GRCm39) |
missense |
probably benign |
0.06 |
R8438:Crybg3
|
UTSW |
16 |
59,385,655 (GRCm39) |
missense |
probably benign |
0.02 |
R8529:Crybg3
|
UTSW |
16 |
59,376,984 (GRCm39) |
missense |
probably damaging |
0.98 |
R8699:Crybg3
|
UTSW |
16 |
59,375,291 (GRCm39) |
missense |
probably damaging |
1.00 |
R8766:Crybg3
|
UTSW |
16 |
59,375,696 (GRCm39) |
missense |
probably benign |
0.05 |
R8767:Crybg3
|
UTSW |
16 |
59,376,500 (GRCm39) |
missense |
probably benign |
|
R8789:Crybg3
|
UTSW |
16 |
59,375,359 (GRCm39) |
missense |
probably benign |
0.00 |
R8878:Crybg3
|
UTSW |
16 |
59,380,547 (GRCm39) |
missense |
probably benign |
0.09 |
R8894:Crybg3
|
UTSW |
16 |
59,342,552 (GRCm39) |
missense |
probably damaging |
0.97 |
R8928:Crybg3
|
UTSW |
16 |
59,376,715 (GRCm39) |
missense |
probably benign |
0.40 |
R8928:Crybg3
|
UTSW |
16 |
59,315,123 (GRCm39) |
missense |
probably benign |
0.31 |
R8939:Crybg3
|
UTSW |
16 |
59,376,512 (GRCm39) |
missense |
probably benign |
0.00 |
R9010:Crybg3
|
UTSW |
16 |
59,374,702 (GRCm39) |
missense |
probably damaging |
0.98 |
R9266:Crybg3
|
UTSW |
16 |
59,372,544 (GRCm39) |
missense |
probably damaging |
0.99 |
R9348:Crybg3
|
UTSW |
16 |
59,421,256 (GRCm39) |
start codon destroyed |
probably null |
0.66 |
R9353:Crybg3
|
UTSW |
16 |
59,421,107 (GRCm39) |
critical splice donor site |
probably null |
|
R9406:Crybg3
|
UTSW |
16 |
59,378,839 (GRCm39) |
missense |
probably benign |
0.42 |
R9429:Crybg3
|
UTSW |
16 |
59,375,556 (GRCm39) |
missense |
probably benign |
0.08 |
R9464:Crybg3
|
UTSW |
16 |
59,376,120 (GRCm39) |
unclassified |
probably benign |
|
R9621:Crybg3
|
UTSW |
16 |
59,326,613 (GRCm39) |
missense |
possibly damaging |
0.73 |
R9703:Crybg3
|
UTSW |
16 |
59,375,939 (GRCm39) |
missense |
probably damaging |
0.96 |
R9751:Crybg3
|
UTSW |
16 |
59,377,887 (GRCm39) |
missense |
possibly damaging |
0.55 |
R9766:Crybg3
|
UTSW |
16 |
59,376,207 (GRCm39) |
missense |
probably benign |
0.03 |
RF007:Crybg3
|
UTSW |
16 |
59,377,067 (GRCm39) |
missense |
possibly damaging |
0.94 |
Z1177:Crybg3
|
UTSW |
16 |
59,376,841 (GRCm39) |
missense |
probably benign |
0.09 |
Z1177:Crybg3
|
UTSW |
16 |
59,375,756 (GRCm39) |
nonsense |
probably null |
|
Z1187:Crybg3
|
UTSW |
16 |
59,326,608 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Predicted Primers |
PCR Primer
(F):5'- AGCCCTTCCGTTTCAGAGATG -3'
(R):5'- AGTGCAACATTTCCTCTTCTCAAG -3'
Sequencing Primer
(F):5'- CCGTTTCAGAGATGCTAGAACTC -3'
(R):5'- CTTCTCAAGTAACAGTTGCGG -3'
|
Posted On |
2021-07-15 |