Incidental Mutation 'R8894:Crybg3'
| ID |
677914 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Crybg3
|
| Ensembl Gene |
ENSMUSG00000022723 |
| Gene Name |
beta-gamma crystallin domain containing 3 |
| Synonyms |
Gm9581 |
| MMRRC Submission |
068697-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.138)
|
| Stock # |
R8894 (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 A
at 59342552 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Aspartic acid
at position 980
(E980D)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000037682
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000044604]
[ENSMUST00000172910]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000044604
AA Change: E980D
PolyPhen 2
Score 0.967 (Sensitivity: 0.77; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000037682
Gene: ENSMUSG00000022723
AA Change: E980D
| 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 |
possibly damaging
Transcript: ENSMUST00000172910
AA Change: E2694D
PolyPhen 2
Score 0.851 (Sensitivity: 0.83; Specificity: 0.93)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000232544
|
| Meta Mutation Damage Score |
0.1676 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 99.0%
|
| Validation Efficiency |
98% (63/64) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 68 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4931429L15Rik |
C |
T |
9: 46,216,397 (GRCm39) |
V291M |
probably benign |
Het |
| Abca14 |
A |
C |
7: 119,847,368 (GRCm39) |
Y744S |
probably damaging |
Het |
| Acly |
T |
C |
11: 100,407,639 (GRCm39) |
E237G |
probably benign |
Het |
| Adcy1 |
T |
A |
11: 7,087,375 (GRCm39) |
D416E |
probably damaging |
Het |
| Arid1b |
T |
A |
17: 5,377,668 (GRCm39) |
M1217K |
probably damaging |
Het |
| Atad2b |
T |
C |
12: 5,064,001 (GRCm39) |
|
probably null |
Het |
| Ccdc177 |
A |
G |
12: 80,806,077 (GRCm39) |
S66P |
probably damaging |
Het |
| Clpsl2 |
T |
C |
17: 28,769,645 (GRCm39) |
C36R |
possibly damaging |
Het |
| Cramp1 |
C |
T |
17: 25,202,114 (GRCm39) |
G456D |
probably damaging |
Het |
| Crb1 |
T |
A |
1: 139,175,750 (GRCm39) |
L744F |
possibly damaging |
Het |
| Cyp2d11 |
A |
T |
15: 82,274,671 (GRCm39) |
V302E |
probably benign |
Het |
| Cyp3a25 |
A |
C |
5: 145,931,670 (GRCm39) |
|
probably benign |
Het |
| Dhx35 |
G |
C |
2: 158,676,795 (GRCm39) |
A410P |
possibly damaging |
Het |
| Dlg2 |
A |
T |
7: 91,614,946 (GRCm39) |
H295L |
probably benign |
Het |
| Dnah2 |
T |
A |
11: 69,383,048 (GRCm39) |
M1172L |
probably benign |
Het |
| Dock9 |
T |
C |
14: 121,860,373 (GRCm39) |
S850G |
probably benign |
Het |
| Dst |
A |
T |
1: 34,213,214 (GRCm39) |
M1369L |
possibly damaging |
Het |
| Fcrl6 |
T |
C |
1: 172,426,856 (GRCm39) |
N30S |
probably benign |
Het |
| Fibp |
A |
T |
19: 5,513,309 (GRCm39) |
Q208L |
probably benign |
Het |
| Foxc1 |
T |
G |
13: 31,992,205 (GRCm39) |
S339A |
unknown |
Het |
| Fras1 |
T |
C |
5: 96,907,402 (GRCm39) |
C3196R |
probably damaging |
Het |
| Galnt7 |
C |
T |
8: 57,979,176 (GRCm39) |
W649* |
probably null |
Het |
| H2-M10.2 |
T |
C |
17: 36,595,555 (GRCm39) |
N245S |
possibly damaging |
Het |
| Hapln3 |
G |
A |
7: 78,767,239 (GRCm39) |
R267W |
probably benign |
Het |
| Hkdc1 |
T |
C |
10: 62,244,400 (GRCm39) |
I229V |
probably damaging |
Het |
| Kank1 |
G |
A |
19: 25,408,378 (GRCm39) |
G1286R |
probably damaging |
Het |
| Krba1 |
A |
G |
6: 48,388,629 (GRCm39) |
I543V |
probably damaging |
Het |
| Lipn |
A |
T |
19: 34,062,248 (GRCm39) |
*401L |
probably null |
Het |
| Lrrc37a |
T |
C |
11: 103,347,449 (GRCm39) |
N3082S |
unknown |
Het |
| Magi1 |
A |
T |
6: 93,663,586 (GRCm39) |
F1117Y |
probably benign |
Het |
| Man2a1 |
A |
G |
17: 65,020,596 (GRCm39) |
K791E |
probably benign |
Het |
| Mindy4 |
T |
C |
6: 55,255,223 (GRCm39) |
L567P |
probably benign |
Het |
| Mpp4 |
A |
G |
1: 59,197,743 (GRCm39) |
|
probably null |
Het |
| Muc2 |
T |
G |
7: 141,280,758 (GRCm39) |
C371W |
probably damaging |
Het |
| Nebl |
A |
T |
2: 17,380,036 (GRCm39) |
N779K |
probably benign |
Het |
| Nf1 |
T |
C |
11: 79,336,619 (GRCm39) |
L1066P |
probably damaging |
Het |
| Npat |
T |
C |
9: 53,467,951 (GRCm39) |
L302P |
probably damaging |
Het |
| Nudt21 |
C |
A |
8: 94,755,498 (GRCm39) |
G146W |
probably damaging |
Het |
| Or10al6 |
T |
A |
17: 38,082,940 (GRCm39) |
I132K |
probably damaging |
Het |
| Or10g1 |
A |
T |
14: 52,647,465 (GRCm39) |
L288Q |
probably damaging |
Het |
| Or4c11c |
T |
G |
2: 88,661,809 (GRCm39) |
M116R |
probably benign |
Het |
| Or8c13 |
A |
T |
9: 38,091,370 (GRCm39) |
F250I |
probably damaging |
Het |
| Pkd2l2 |
T |
C |
18: 34,571,273 (GRCm39) |
|
probably benign |
Het |
| Plcd3 |
T |
A |
11: 102,962,592 (GRCm39) |
N620Y |
probably damaging |
Het |
| Ppl |
T |
C |
16: 4,925,206 (GRCm39) |
|
probably benign |
Het |
| Pramel41 |
T |
G |
5: 94,596,399 (GRCm39) |
C479G |
probably damaging |
Het |
| Prep |
T |
C |
10: 45,034,620 (GRCm39) |
*711Q |
probably null |
Het |
| Psap |
T |
A |
10: 60,135,736 (GRCm39) |
V394E |
possibly damaging |
Het |
| Ptprr |
T |
A |
10: 115,884,250 (GRCm39) |
D102E |
probably benign |
Het |
| Rgsl1 |
T |
A |
1: 153,698,119 (GRCm39) |
|
probably null |
Het |
| Rimbp2 |
T |
A |
5: 128,850,454 (GRCm39) |
D943V |
possibly damaging |
Het |
| Rsrc2 |
G |
T |
5: 123,878,793 (GRCm39) |
R113S |
unknown |
Het |
| Sim1 |
T |
A |
10: 50,786,626 (GRCm39) |
V286E |
possibly damaging |
Het |
| Slc35d1 |
A |
T |
4: 103,068,529 (GRCm39) |
F124L |
|
Het |
| Sort1 |
T |
C |
3: 108,246,228 (GRCm39) |
F402L |
probably damaging |
Het |
| Spata31f1a |
A |
G |
4: 42,853,688 (GRCm39) |
C47R |
possibly damaging |
Het |
| Tlr2 |
T |
A |
3: 83,744,091 (GRCm39) |
E664V |
probably damaging |
Het |
| Tmppe |
A |
T |
9: 114,230,260 (GRCm39) |
|
probably benign |
Het |
| Tnfrsf8 |
T |
C |
4: 145,001,038 (GRCm39) |
D356G |
possibly damaging |
Het |
| Tnrc18 |
T |
C |
5: 142,725,212 (GRCm39) |
E1839G |
unknown |
Het |
| Trgv4 |
T |
C |
13: 19,369,627 (GRCm39) |
S124P |
probably damaging |
Het |
| Trim17 |
T |
A |
11: 58,859,536 (GRCm39) |
M250K |
probably benign |
Het |
| Trim33 |
C |
T |
3: 103,218,807 (GRCm39) |
L315F |
probably damaging |
Het |
| Vmn1r43 |
A |
G |
6: 89,846,746 (GRCm39) |
S247P |
probably benign |
Het |
| Vmn2r33 |
T |
A |
7: 7,566,809 (GRCm39) |
Y101F |
probably benign |
Het |
| Vmn2r40 |
T |
C |
7: 8,923,197 (GRCm39) |
D388G |
|
Het |
| Wdr36 |
C |
T |
18: 32,970,340 (GRCm39) |
|
probably benign |
Het |
| Zfp2 |
T |
A |
11: 50,791,843 (GRCm39) |
I67F |
possibly damaging |
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 |
|
R8871:Crybg3
|
UTSW |
16 |
59,378,519 (GRCm39) |
missense |
probably benign |
|
|
R8878:Crybg3
|
UTSW |
16 |
59,380,547 (GRCm39) |
missense |
probably benign |
0.09 |
|
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'- TTGAGAGACACGACCCAGTTTG -3'
(R):5'- TGACTCATACCCAGAGCAGAG -3'
Sequencing Primer
(F):5'- ACGACCCAGTTTGCGTAGAGTTAC -3'
(R):5'- TCATACCCAGAGCAGAGTAAGCAG -3'
|
| Posted On |
2021-08-02 |
Incidental Mutation