Incidental Mutation 'R1579:Crybg3'
| ID |
171323 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Crybg3
|
| Ensembl Gene |
ENSMUSG00000022723 |
| Gene Name |
beta-gamma crystallin domain containing 3 |
| Synonyms |
Gm9581 |
| MMRRC Submission |
039616-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.138)
|
| Stock # |
R1579 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
16 |
| Chromosomal Location |
59312451-59421410 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to A
at 59350561 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glycine to Valine
at position 2607
(G2607V)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000156047
(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: G893V
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000037682
Gene: ENSMUSG00000022723
AA Change: G893V
| 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 |
noncoding transcript
Transcript: ENSMUST00000129350
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000129762
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000172910
AA Change: G2607V
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000179383
AA Change: G893V
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000137452
Gene: ENSMUSG00000022723
AA Change: G893V
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
390 |
405 |
N/A |
INTRINSIC |
|
low complexity region
|
414 |
422 |
N/A |
INTRINSIC |
|
XTALbg
|
562 |
648 |
2.78e-4 |
SMART |
|
Pfam:Crystall
|
668 |
731 |
1e-6 |
PFAM |
|
XTALbg
|
746 |
831 |
1.2e-21 |
SMART |
|
XTALbg
|
839 |
922 |
5.73e-19 |
SMART |
|
XTALbg
|
935 |
1013 |
6.87e-5 |
SMART |
|
XTALbg
|
1021 |
1101 |
1.28e-7 |
SMART |
|
RICIN
|
1104 |
1236 |
8.16e-14 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000232544
|
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.2%
- 10x: 96.0%
- 20x: 91.8%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 63 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700037C18Rik |
T |
C |
16: 3,724,039 (GRCm39) |
R162G |
probably benign |
Het |
| Adamtsl4 |
T |
A |
3: 95,592,807 (GRCm39) |
|
probably benign |
Het |
| Adgrv1 |
A |
T |
13: 81,711,898 (GRCm39) |
L306H |
probably damaging |
Het |
| Aknad1 |
T |
A |
3: 108,659,452 (GRCm39) |
Y155* |
probably null |
Het |
| Aldh6a1 |
C |
T |
12: 84,488,622 (GRCm39) |
R88H |
possibly damaging |
Het |
| Apc2 |
G |
C |
10: 80,147,179 (GRCm39) |
K715N |
probably damaging |
Het |
| Arhgap45 |
G |
A |
10: 79,864,811 (GRCm39) |
V798M |
probably damaging |
Het |
| Calcrl |
T |
C |
2: 84,163,881 (GRCm39) |
T437A |
probably benign |
Het |
| Cdan1 |
A |
G |
2: 120,561,220 (GRCm39) |
F183L |
probably damaging |
Het |
| Chmp7 |
C |
T |
14: 69,956,899 (GRCm39) |
M336I |
probably benign |
Het |
| Cntnap4 |
A |
G |
8: 113,608,462 (GRCm39) |
E1294G |
possibly damaging |
Het |
| Dhx29 |
G |
T |
13: 113,072,132 (GRCm39) |
|
probably null |
Het |
| Dmrtb1 |
T |
A |
4: 107,541,322 (GRCm39) |
H13L |
probably damaging |
Het |
| Echdc2 |
A |
G |
4: 108,031,006 (GRCm39) |
M162V |
probably benign |
Het |
| Entpd8 |
A |
G |
2: 24,974,986 (GRCm39) |
D439G |
possibly damaging |
Het |
| Fastkd2 |
C |
G |
1: 63,785,046 (GRCm39) |
H477Q |
probably null |
Het |
| Fbrs |
A |
G |
7: 127,084,529 (GRCm39) |
E517G |
probably damaging |
Het |
| Gchfr |
A |
G |
2: 119,002,502 (GRCm39) |
T71A |
possibly damaging |
Het |
| Hecw1 |
A |
T |
13: 14,552,492 (GRCm39) |
C35S |
probably damaging |
Het |
| Izumo1r |
C |
T |
9: 14,813,098 (GRCm39) |
R58H |
probably benign |
Het |
| Kif13a |
T |
C |
13: 46,906,332 (GRCm39) |
E537G |
possibly damaging |
Het |
| Kif13b |
G |
A |
14: 65,019,790 (GRCm39) |
|
probably null |
Het |
| Kremen1 |
CGGG |
CGGGGGG |
11: 5,151,791 (GRCm39) |
|
probably benign |
Het |
| Lnpk |
A |
T |
2: 74,378,340 (GRCm39) |
D140E |
probably damaging |
Het |
| Ltbp1 |
A |
G |
17: 75,559,362 (GRCm39) |
M284V |
probably benign |
Het |
| Me3 |
A |
T |
7: 89,495,050 (GRCm39) |
T323S |
possibly damaging |
Het |
| Mtus1 |
A |
G |
8: 41,535,895 (GRCm39) |
V607A |
probably damaging |
Het |
| Myh14 |
A |
T |
7: 44,305,118 (GRCm39) |
|
probably null |
Het |
| Myo1h |
T |
A |
5: 114,485,496 (GRCm39) |
C545* |
probably null |
Het |
| Nbn |
T |
A |
4: 15,964,289 (GRCm39) |
D121E |
probably damaging |
Het |
| Nox4 |
A |
G |
7: 87,019,231 (GRCm39) |
Y408C |
probably damaging |
Het |
| Nup214 |
C |
T |
2: 31,924,478 (GRCm39) |
S1669F |
probably damaging |
Het |
| Or10q1b |
A |
G |
19: 13,682,566 (GRCm39) |
D125G |
probably damaging |
Het |
| Or52d3 |
T |
A |
7: 104,229,268 (GRCm39) |
Y138* |
probably null |
Het |
| Or5w20 |
G |
A |
2: 87,727,286 (GRCm39) |
A248T |
probably benign |
Het |
| Osbpl5 |
T |
C |
7: 143,262,939 (GRCm39) |
T150A |
possibly damaging |
Het |
| Pgap3 |
C |
A |
11: 98,280,879 (GRCm39) |
M265I |
probably benign |
Het |
| Pirb |
A |
T |
7: 3,720,637 (GRCm39) |
L287Q |
probably benign |
Het |
| Pkd2l2 |
A |
T |
18: 34,560,446 (GRCm39) |
N351I |
possibly damaging |
Het |
| Prkdc |
T |
A |
16: 15,493,192 (GRCm39) |
Y700N |
probably benign |
Het |
| Pzp |
A |
G |
6: 128,500,931 (GRCm39) |
|
probably null |
Het |
| Rfwd3 |
C |
T |
8: 112,014,874 (GRCm39) |
R326Q |
probably damaging |
Het |
| Rptor |
A |
T |
11: 119,786,827 (GRCm39) |
Q1264L |
probably benign |
Het |
| Scnn1a |
T |
C |
6: 125,299,103 (GRCm39) |
F61S |
probably damaging |
Het |
| Tenm2 |
C |
A |
11: 35,997,610 (GRCm39) |
W825C |
probably damaging |
Het |
| Tex264 |
A |
T |
9: 106,559,116 (GRCm39) |
I70N |
possibly damaging |
Het |
| Tns2 |
G |
T |
15: 102,019,645 (GRCm39) |
D504Y |
probably damaging |
Het |
| Trappc14 |
T |
C |
5: 138,260,128 (GRCm39) |
I338V |
probably benign |
Het |
| Trpc2 |
T |
A |
7: 101,733,447 (GRCm39) |
F132Y |
probably damaging |
Het |
| Trpm4 |
A |
G |
7: 44,958,021 (GRCm39) |
F816S |
probably damaging |
Het |
| Uqcc1 |
G |
A |
2: 155,763,641 (GRCm39) |
Q5* |
probably null |
Het |
| Usp36 |
G |
T |
11: 118,175,771 (GRCm39) |
T130N |
probably damaging |
Het |
| Vav1 |
A |
G |
17: 57,604,252 (GRCm39) |
M165V |
probably benign |
Het |
| Vmn1r64 |
A |
T |
7: 5,886,803 (GRCm39) |
F247I |
probably damaging |
Het |
| Vmn2r26 |
G |
C |
6: 124,016,706 (GRCm39) |
R390P |
probably benign |
Het |
| Vmn2r57 |
G |
T |
7: 41,049,548 (GRCm39) |
H734N |
probably benign |
Het |
| Wfdc16 |
G |
T |
2: 164,477,843 (GRCm39) |
H69N |
possibly damaging |
Het |
| Zfp316 |
C |
T |
5: 143,239,317 (GRCm39) |
E901K |
probably damaging |
Het |
| Zfp334 |
T |
C |
2: 165,223,719 (GRCm39) |
E108G |
probably damaging |
Het |
| Zfp407 |
T |
C |
18: 84,227,763 (GRCm39) |
S1949G |
probably benign |
Het |
| Zfp408 |
A |
G |
2: 91,476,473 (GRCm39) |
L227P |
probably benign |
Het |
| Zfp560 |
T |
C |
9: 20,259,287 (GRCm39) |
H525R |
possibly damaging |
Het |
| Zfp609 |
G |
A |
9: 65,611,754 (GRCm39) |
A403V |
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 |
|
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 |
|
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'- TGATTCATCAGGAGCACCAAGCAAC -3'
(R):5'- GGCAGCGAGACAAGATCCATTCAC -3'
Sequencing Primer
(F):5'- agcaaaagcacagtaatgatgg -3'
(R):5'- CGTGAAGAGTGGAGTGTAAGTAG -3'
|
| Posted On |
2014-04-13 |
Incidental Mutation