Incidental Mutation 'R7033:Crybg3'
ID |
546483 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Crybg3
|
Ensembl Gene |
ENSMUSG00000022723 |
Gene Name |
beta-gamma crystallin domain containing 3 |
Synonyms |
Gm9581 |
MMRRC Submission |
045134-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.138)
|
Stock # |
R7033 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
16 |
Chromosomal Location |
59312451-59421410 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
G to A
at 59374528 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Proline to Leucine
at position 2242
(P2242L)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000156047
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000044604]
[ENSMUST00000172910]
|
AlphaFold |
no structure available at present |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000044604
AA Change: P528L
PolyPhen 2
Score 0.934 (Sensitivity: 0.80; Specificity: 0.94)
|
SMART Domains |
Protein: ENSMUSP00000037682 Gene: ENSMUSG00000022723 AA Change: P528L
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 damaging
Transcript: ENSMUST00000172910
AA Change: P2242L
PolyPhen 2
Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
|
Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 98.8%
|
Validation Efficiency |
96% (70/73) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 76 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
1700024B05Rik |
A |
G |
14: 41,819,374 (GRCm39) |
Y105C |
probably damaging |
Het |
Acr |
T |
C |
15: 89,453,703 (GRCm39) |
S81P |
probably benign |
Het |
Akr1c14 |
T |
C |
13: 4,129,178 (GRCm39) |
|
probably null |
Het |
Ank2 |
C |
A |
3: 126,738,499 (GRCm39) |
E2375* |
probably null |
Het |
Avpi1 |
A |
G |
19: 42,113,416 (GRCm39) |
W14R |
probably damaging |
Het |
Brd4 |
A |
G |
17: 32,417,989 (GRCm39) |
V55A |
probably benign |
Het |
Casp8ap2 |
A |
G |
4: 32,639,392 (GRCm39) |
N149D |
probably damaging |
Het |
Ccl25 |
A |
T |
8: 4,399,641 (GRCm39) |
|
probably benign |
Het |
Celf5 |
A |
G |
10: 81,298,548 (GRCm39) |
L299P |
probably damaging |
Het |
Cfap418 |
A |
G |
4: 10,898,014 (GRCm39) |
T199A |
probably benign |
Het |
Cfap57 |
T |
G |
4: 118,470,323 (GRCm39) |
T186P |
possibly damaging |
Het |
Chrm4 |
A |
G |
2: 91,758,692 (GRCm39) |
M367V |
probably benign |
Het |
Col1a2 |
A |
T |
6: 4,516,904 (GRCm39) |
|
probably benign |
Het |
Cspg4 |
T |
C |
9: 56,795,358 (GRCm39) |
V1031A |
probably damaging |
Het |
Dbnl |
C |
A |
11: 5,748,102 (GRCm39) |
P313T |
probably benign |
Het |
Dnah1 |
A |
G |
14: 30,986,882 (GRCm39) |
F3637L |
probably damaging |
Het |
Dnah7a |
A |
T |
1: 53,518,820 (GRCm39) |
I2979N |
probably damaging |
Het |
Dusp10 |
T |
C |
1: 183,769,802 (GRCm39) |
V256A |
possibly damaging |
Het |
Dync2i1 |
T |
C |
12: 116,175,511 (GRCm39) |
M889V |
probably benign |
Het |
Erlin2 |
T |
C |
8: 27,521,792 (GRCm39) |
V164A |
probably benign |
Het |
Fam110a |
T |
C |
2: 151,812,131 (GRCm39) |
D213G |
probably damaging |
Het |
Fkbp1a |
T |
C |
2: 151,399,420 (GRCm39) |
|
probably null |
Het |
Foxg1 |
G |
A |
12: 49,431,503 (GRCm39) |
|
probably benign |
Het |
Gm12185 |
T |
C |
11: 48,806,826 (GRCm39) |
S122G |
probably benign |
Het |
Gm2042 |
A |
T |
12: 87,927,051 (GRCm39) |
D456V |
probably damaging |
Het |
Grin2b |
A |
G |
6: 135,900,036 (GRCm39) |
Y282H |
probably damaging |
Het |
Gys2 |
T |
C |
6: 142,418,448 (GRCm39) |
D27G |
probably benign |
Het |
H2-DMa |
T |
A |
17: 34,355,971 (GRCm39) |
|
probably null |
Het |
Hectd4 |
T |
A |
5: 121,502,631 (GRCm39) |
I4245N |
possibly damaging |
Het |
Incenp |
A |
G |
19: 9,870,736 (GRCm39) |
Y298H |
unknown |
Het |
Ints2 |
C |
T |
11: 86,123,911 (GRCm39) |
G626R |
probably damaging |
Het |
Kifc1 |
A |
T |
17: 34,102,671 (GRCm39) |
V314E |
probably damaging |
Het |
Lurap1l |
C |
T |
4: 80,829,604 (GRCm39) |
P5S |
probably benign |
Het |
Mtmr11 |
A |
G |
3: 96,077,262 (GRCm39) |
Y540C |
probably damaging |
Het |
Muc4 |
C |
A |
16: 32,576,698 (GRCm39) |
|
probably benign |
Het |
Myh13 |
A |
G |
11: 67,260,142 (GRCm39) |
E1860G |
possibly damaging |
Het |
Myl10 |
G |
C |
5: 136,726,825 (GRCm39) |
V70L |
probably benign |
Het |
Nbeal1 |
G |
A |
1: 60,350,106 (GRCm39) |
G2385D |
probably damaging |
Het |
Ncaph2 |
G |
A |
15: 89,255,559 (GRCm39) |
A578T |
probably benign |
Het |
Ncr1 |
T |
C |
7: 4,341,144 (GRCm39) |
V8A |
possibly damaging |
Het |
Nutm1 |
T |
C |
2: 112,086,513 (GRCm39) |
T73A |
probably damaging |
Het |
Olfm1 |
G |
A |
2: 28,119,348 (GRCm39) |
D313N |
probably damaging |
Het |
Or11h4 |
A |
G |
14: 50,974,164 (GRCm39) |
F152L |
possibly damaging |
Het |
Or13f5 |
A |
G |
4: 52,826,089 (GRCm39) |
M231V |
probably benign |
Het |
Or4a66 |
T |
A |
2: 88,531,164 (GRCm39) |
N170Y |
probably damaging |
Het |
Otog |
T |
A |
7: 45,916,822 (GRCm39) |
|
probably null |
Het |
Peak1 |
G |
T |
9: 56,166,991 (GRCm39) |
D312E |
probably damaging |
Het |
Plekhg1 |
T |
C |
10: 3,890,251 (GRCm39) |
I331T |
probably damaging |
Het |
Polr1b |
T |
C |
2: 128,957,562 (GRCm39) |
V539A |
possibly damaging |
Het |
Polr2a |
A |
T |
11: 69,638,039 (GRCm39) |
H143Q |
possibly damaging |
Het |
Ppargc1b |
G |
T |
18: 61,440,785 (GRCm39) |
A711D |
probably damaging |
Het |
Prnd |
T |
A |
2: 131,795,362 (GRCm39) |
C161S |
possibly damaging |
Het |
Prrt4 |
A |
G |
6: 29,171,147 (GRCm39) |
L435P |
possibly damaging |
Het |
Psen2 |
C |
T |
1: 180,055,085 (GRCm39) |
|
probably null |
Het |
Psg23 |
T |
C |
7: 18,348,669 (GRCm39) |
E46G |
possibly damaging |
Het |
Rasgef1b |
C |
T |
5: 99,380,195 (GRCm39) |
R350H |
probably damaging |
Het |
Rfxank |
G |
C |
8: 70,590,820 (GRCm39) |
P16A |
probably benign |
Het |
Sema6a |
A |
G |
18: 47,381,637 (GRCm39) |
I944T |
probably damaging |
Het |
Serpinc1 |
A |
G |
1: 160,825,091 (GRCm39) |
T313A |
probably benign |
Het |
Slc27a4 |
T |
C |
2: 29,694,283 (GRCm39) |
S36P |
possibly damaging |
Het |
Slc36a1 |
C |
A |
11: 55,114,563 (GRCm39) |
R214S |
probably benign |
Het |
Sorl1 |
C |
T |
9: 41,942,279 (GRCm39) |
S982N |
possibly damaging |
Het |
Speer1k |
G |
T |
5: 11,000,518 (GRCm39) |
|
probably null |
Het |
Syt1 |
A |
C |
10: 108,526,797 (GRCm39) |
D37E |
probably benign |
Het |
Tcl1b5 |
A |
T |
12: 105,142,750 (GRCm39) |
D26V |
probably damaging |
Het |
Tenm4 |
A |
T |
7: 96,544,430 (GRCm39) |
K2149* |
probably null |
Het |
Ubc |
T |
A |
5: 125,465,238 (GRCm39) |
I30F |
probably damaging |
Het |
Ugt1a7c |
A |
T |
1: 88,023,250 (GRCm39) |
E136D |
possibly damaging |
Het |
Utp20 |
A |
G |
10: 88,590,337 (GRCm39) |
|
probably null |
Het |
Vmn1r159 |
C |
T |
7: 22,542,289 (GRCm39) |
V248I |
probably damaging |
Het |
Vmn2r105 |
T |
C |
17: 20,428,874 (GRCm39) |
H734R |
probably damaging |
Het |
Xrcc2 |
T |
G |
5: 25,897,707 (GRCm39) |
I81L |
possibly damaging |
Het |
Zfat |
A |
C |
15: 68,052,864 (GRCm39) |
I310S |
probably damaging |
Het |
Zfp119a |
A |
G |
17: 56,173,009 (GRCm39) |
V278A |
probably benign |
Het |
Zfp53 |
A |
G |
17: 21,720,508 (GRCm39) |
K33E |
probably benign |
Het |
Zfp866 |
G |
T |
8: 70,218,491 (GRCm39) |
H376Q |
probably 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 |
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 |
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'- CAGTGCACCACTAAGTTGCC -3'
(R):5'- ACACGCTGGAATTTTCAAGTC -3'
Sequencing Primer
(F):5'- ACTAAGTTGCCAGGCTAGCCTTAG -3'
(R):5'- TGTAGAGTTCAGTGAACCAACGACC -3'
|
Posted On |
2019-05-13 |