Incidental Mutation 'R8699:Crybg3'
ID |
668958 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Crybg3
|
Ensembl Gene |
ENSMUSG00000022723 |
Gene Name |
beta-gamma crystallin domain containing 3 |
Synonyms |
Gm9581 |
MMRRC Submission |
068553-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.138)
|
Stock # |
R8699 (G1)
|
Quality Score |
225.009 |
Status
|
Not validated
|
Chromosome |
16 |
Chromosomal Location |
59312451-59421410 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 59375291 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Tyrosine to Histidine
at position 274
(Y274H)
|
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: Y274H
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000037682 Gene: ENSMUSG00000022723 AA Change: Y274H
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: Y1988H
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.7%
- 20x: 99.1%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 79 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4933430I17Rik |
T |
C |
4: 62,450,515 (GRCm39) |
W30R |
probably damaging |
Het |
Abca3 |
A |
G |
17: 24,627,199 (GRCm39) |
D1555G |
probably benign |
Het |
Anapc1 |
T |
C |
2: 128,483,373 (GRCm39) |
T1241A |
probably damaging |
Het |
Ano5 |
G |
A |
7: 51,243,519 (GRCm39) |
V881I |
probably benign |
Het |
Appl1 |
G |
A |
14: 26,662,212 (GRCm39) |
S490L |
probably benign |
Het |
Asxl3 |
A |
G |
18: 22,567,664 (GRCm39) |
T81A |
probably benign |
Het |
Bclaf1 |
T |
C |
10: 20,209,184 (GRCm39) |
S754P |
possibly damaging |
Het |
Bicra |
G |
T |
7: 15,723,113 (GRCm39) |
Q135K |
probably benign |
Het |
Cad |
T |
C |
5: 31,233,605 (GRCm39) |
V1951A |
possibly damaging |
Het |
Cadm3 |
T |
A |
1: 173,168,683 (GRCm39) |
Y295F |
probably damaging |
Het |
Ccnt1 |
A |
G |
15: 98,462,995 (GRCm39) |
I59T |
probably damaging |
Het |
Ccr6 |
C |
T |
17: 8,475,398 (GRCm39) |
T201M |
probably benign |
Het |
Cd5 |
A |
G |
19: 10,702,556 (GRCm39) |
F209S |
possibly damaging |
Het |
Cep126 |
A |
C |
9: 8,087,362 (GRCm39) |
D1017E |
probably damaging |
Het |
Cfap298 |
T |
C |
16: 90,727,945 (GRCm39) |
K82E |
probably benign |
Het |
Cntnap4 |
A |
T |
8: 113,484,228 (GRCm39) |
D427V |
probably damaging |
Het |
Col4a4 |
T |
A |
1: 82,433,455 (GRCm39) |
N1496I |
unknown |
Het |
Cubn |
C |
A |
2: 13,388,770 (GRCm39) |
S1479I |
probably damaging |
Het |
Diras2 |
A |
T |
13: 52,662,143 (GRCm39) |
C55S |
probably damaging |
Het |
Dleu7 |
G |
A |
14: 62,530,279 (GRCm39) |
R41C |
probably benign |
Het |
Dync2i1 |
T |
C |
12: 116,171,321 (GRCm39) |
T972A |
probably benign |
Het |
Efcab3 |
A |
G |
11: 104,672,072 (GRCm39) |
T1464A |
probably benign |
Het |
Exo5 |
A |
G |
4: 120,779,193 (GRCm39) |
I224T |
probably damaging |
Het |
Fcho1 |
T |
C |
8: 72,162,277 (GRCm39) |
I774V |
possibly damaging |
Het |
Gclm |
T |
G |
3: 122,059,972 (GRCm39) |
S251A |
possibly damaging |
Het |
Gm13889 |
T |
C |
2: 93,787,327 (GRCm39) |
Q49R |
unknown |
Het |
Gm35315 |
T |
A |
5: 110,228,392 (GRCm39) |
H18L |
probably benign |
Het |
Gm9949 |
G |
A |
18: 62,317,043 (GRCm39) |
G65R |
unknown |
Het |
Gpr153 |
C |
T |
4: 152,363,558 (GRCm39) |
|
probably benign |
Het |
Gria4 |
C |
A |
9: 4,424,347 (GRCm39) |
K839N |
probably damaging |
Het |
Gria4 |
T |
G |
9: 4,424,351 (GRCm39) |
Y838S |
probably damaging |
Het |
Hrh3 |
A |
G |
2: 179,743,149 (GRCm39) |
W160R |
probably damaging |
Het |
Htr4 |
G |
A |
18: 62,570,763 (GRCm39) |
A273T |
probably damaging |
Het |
Lig3 |
G |
T |
11: 82,685,376 (GRCm39) |
C599F |
probably damaging |
Het |
Lrp1b |
A |
T |
2: 41,172,207 (GRCm39) |
V1594E |
|
Het |
Map3k10 |
A |
T |
7: 27,367,780 (GRCm39) |
V286D |
probably damaging |
Het |
Map4k4 |
T |
A |
1: 40,015,910 (GRCm39) |
V117E |
unknown |
Het |
Mdga1 |
C |
T |
17: 30,061,348 (GRCm39) |
V548M |
possibly damaging |
Het |
Mms22l |
A |
T |
4: 24,507,363 (GRCm39) |
L248F |
possibly damaging |
Het |
Ncaph |
T |
C |
2: 126,963,096 (GRCm39) |
D379G |
possibly damaging |
Het |
Neb |
A |
G |
2: 52,037,246 (GRCm39) |
V7064A |
probably benign |
Het |
Neb |
G |
A |
2: 52,102,563 (GRCm39) |
T4570M |
probably benign |
Het |
Npy5r |
G |
T |
8: 67,134,274 (GRCm39) |
T173K |
probably damaging |
Het |
Or52a33 |
A |
T |
7: 103,288,822 (GRCm39) |
I175N |
probably damaging |
Het |
Or5b94 |
A |
G |
19: 12,652,246 (GRCm39) |
M226V |
probably benign |
Het |
Or5b97 |
A |
T |
19: 12,878,828 (GRCm39) |
F105L |
possibly damaging |
Het |
Or5g25 |
A |
T |
2: 85,478,330 (GRCm39) |
C112S |
possibly damaging |
Het |
Or8u10 |
A |
T |
2: 85,915,518 (GRCm39) |
I201N |
probably damaging |
Het |
Oxsm |
A |
G |
14: 16,242,631 (GRCm38) |
I46T |
possibly damaging |
Het |
Pcdha1 |
A |
T |
18: 37,064,076 (GRCm39) |
I247F |
probably benign |
Het |
Pcdhgb6 |
A |
T |
18: 37,875,975 (GRCm39) |
I228L |
probably benign |
Het |
Peg10 |
T |
TCCA |
6: 4,756,451 (GRCm39) |
|
probably benign |
Het |
Ppp1r9a |
A |
G |
6: 5,115,474 (GRCm39) |
S866G |
probably benign |
Het |
Ppp6r3 |
T |
A |
19: 3,546,587 (GRCm39) |
S304C |
probably damaging |
Het |
Pramel11 |
A |
T |
4: 143,623,762 (GRCm39) |
N137K |
probably benign |
Het |
Ptprd |
A |
T |
4: 75,959,629 (GRCm39) |
F279I |
probably benign |
Het |
Repin1 |
G |
T |
6: 48,574,279 (GRCm39) |
E403* |
probably null |
Het |
Rest |
G |
A |
5: 77,429,389 (GRCm39) |
G603R |
probably benign |
Het |
Rgs17 |
A |
T |
10: 5,868,194 (GRCm39) |
L9M |
probably benign |
Het |
Rtp1 |
A |
G |
16: 23,250,133 (GRCm39) |
Y166C |
probably damaging |
Het |
Sec24b |
C |
A |
3: 129,798,653 (GRCm39) |
R572I |
probably damaging |
Het |
Setd1a |
G |
T |
7: 127,385,774 (GRCm39) |
R827L |
possibly damaging |
Het |
Sh3tc1 |
T |
C |
5: 35,859,235 (GRCm39) |
Y1091C |
probably damaging |
Het |
Sorbs1 |
G |
C |
19: 40,365,244 (GRCm39) |
R180G |
probably benign |
Het |
Stat4 |
T |
A |
1: 52,111,096 (GRCm39) |
M181K |
probably benign |
Het |
Stk16 |
A |
G |
1: 75,188,682 (GRCm39) |
E67G |
probably benign |
Het |
Supv3l1 |
A |
G |
10: 62,268,234 (GRCm39) |
V537A |
possibly damaging |
Het |
Tmc8 |
A |
G |
11: 117,674,361 (GRCm39) |
E101G |
possibly damaging |
Het |
Tmem106a |
A |
T |
11: 101,473,120 (GRCm39) |
|
probably benign |
Het |
Tpr |
T |
A |
1: 150,293,772 (GRCm39) |
I922N |
probably damaging |
Het |
Uaca |
G |
T |
9: 60,778,347 (GRCm39) |
L911F |
probably damaging |
Het |
Ubn1 |
A |
T |
16: 4,881,567 (GRCm39) |
I200L |
possibly damaging |
Het |
Ush2a |
A |
G |
1: 188,643,574 (GRCm39) |
D4312G |
probably damaging |
Het |
Virma |
A |
T |
4: 11,528,678 (GRCm39) |
Y1255F |
probably benign |
Het |
Vmn1r170 |
C |
T |
7: 23,306,080 (GRCm39) |
Q161* |
probably null |
Het |
Vmn1r175 |
G |
T |
7: 23,508,234 (GRCm39) |
A131D |
probably benign |
Het |
Vmn1r52 |
T |
A |
6: 90,155,742 (GRCm39) |
N15K |
probably benign |
Het |
Wdr46 |
T |
A |
17: 34,167,826 (GRCm39) |
I513N |
probably damaging |
Het |
Zfp788 |
A |
G |
7: 41,297,840 (GRCm39) |
N159D |
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 |
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'- AATGCCTCACCCAGTTTACC -3'
(R):5'- CTTGCTTCGCATTTCAGGGG -3'
Sequencing Primer
(F):5'- CTTCTTTTTCAAAATGATGGACCAGG -3'
(R):5'- GGCTATGAGTCGCCTACATTAAG -3'
|
Posted On |
2021-04-30 |