Incidental Mutation 'R9010:Crybg3'
| ID |
685599 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Crybg3
|
| Ensembl Gene |
ENSMUSG00000022723 |
| Gene Name |
beta-gamma crystallin domain containing 3 |
| Synonyms |
Gm9581 |
| MMRRC Submission |
068840-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.138)
|
| Stock # |
R9010 (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 59374702 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Methionine
at position 470
(T470M)
|
| 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: T470M
PolyPhen 2
Score 0.975 (Sensitivity: 0.76; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000037682
Gene: ENSMUSG00000022723
AA Change: T470M
| 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: T2184M
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.5%
- 20x: 98.1%
|
| Validation Efficiency |
100% (71/71) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 71 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2310003L06Rik |
T |
A |
5: 88,119,504 (GRCm39) |
M87K |
possibly damaging |
Het |
| Angel1 |
T |
C |
12: 86,770,153 (GRCm39) |
S36G |
possibly damaging |
Het |
| Apol6 |
A |
G |
15: 76,935,697 (GRCm39) |
H322R |
unknown |
Het |
| Arfgef2 |
G |
A |
2: 166,701,284 (GRCm39) |
R694Q |
probably damaging |
Het |
| Bank1 |
A |
T |
3: 135,761,559 (GRCm39) |
N748K |
probably benign |
Het |
| Bptf |
A |
T |
11: 106,964,576 (GRCm39) |
D1539E |
probably damaging |
Het |
| Bst1 |
T |
C |
5: 43,982,695 (GRCm39) |
I180T |
possibly damaging |
Het |
| Cabin1 |
C |
A |
10: 75,570,892 (GRCm39) |
E795* |
probably null |
Het |
| Ccdc168 |
A |
G |
1: 44,100,633 (GRCm39) |
V155A |
possibly damaging |
Het |
| Cckar |
T |
A |
5: 53,857,163 (GRCm39) |
T416S |
probably damaging |
Het |
| Ccng2 |
G |
T |
5: 93,416,616 (GRCm39) |
E46* |
probably null |
Het |
| Ceacam9 |
T |
C |
7: 16,455,916 (GRCm39) |
S8P |
probably benign |
Het |
| Cercam |
G |
A |
2: 29,766,071 (GRCm39) |
D317N |
possibly damaging |
Het |
| Cfap54 |
T |
A |
10: 92,734,921 (GRCm39) |
M2377L |
unknown |
Het |
| Cgnl1 |
A |
T |
9: 71,558,631 (GRCm39) |
L914H |
probably damaging |
Het |
| Chst13 |
G |
A |
6: 90,286,506 (GRCm39) |
P152L |
probably damaging |
Het |
| Clec2g |
T |
A |
6: 128,925,688 (GRCm39) |
F32L |
unknown |
Het |
| Cntnap5c |
A |
T |
17: 58,671,159 (GRCm39) |
M1116L |
probably benign |
Het |
| Col11a2 |
C |
A |
17: 34,283,760 (GRCm39) |
F1516L |
unknown |
Het |
| Crb2 |
A |
G |
2: 37,680,698 (GRCm39) |
E542G |
probably benign |
Het |
| Crisp1 |
A |
T |
17: 40,616,101 (GRCm39) |
|
probably benign |
Het |
| Dusp9 |
TAAAGCGGAGGCCAAAGCGGAGGCCAAAGCGGAGGCTAAAGCGGAGGCCAAAGCGGAGGCCAAAGCGGAGGCCAAAGCGGAGGCTAAAGCGGAGGCCAAAGCGGAGGCCAAAG |
TAAAGCGGAGGCCAAAGCGGAGGCCAAAGCGGAGGCTAAAGCGGAGGCCAAAGCGGAGGCCAAAG |
X: 72,684,217 (GRCm39) |
|
probably benign |
Het |
| Eif1ad |
T |
A |
19: 5,418,726 (GRCm39) |
V93D |
possibly damaging |
Het |
| Entpd3 |
T |
C |
9: 120,384,825 (GRCm39) |
I134T |
probably benign |
Het |
| Garre1 |
A |
T |
7: 33,938,491 (GRCm39) |
C1015S |
probably benign |
Het |
| Gm19410 |
A |
G |
8: 36,282,011 (GRCm39) |
M1865V |
probably benign |
Het |
| Gpat2 |
A |
G |
2: 127,277,146 (GRCm39) |
E728G |
probably benign |
Het |
| Heatr5b |
C |
A |
17: 79,081,139 (GRCm39) |
S1371I |
probably damaging |
Het |
| Ighv1-4 |
A |
T |
12: 114,450,949 (GRCm39) |
M53K |
possibly damaging |
Het |
| Itch |
A |
T |
2: 155,020,991 (GRCm39) |
T169S |
probably benign |
Het |
| Kifc2 |
A |
G |
15: 76,550,885 (GRCm39) |
N587S |
possibly damaging |
Het |
| Klk1b16 |
A |
T |
7: 43,790,177 (GRCm39) |
D149V |
probably benign |
Het |
| Kndc1 |
C |
T |
7: 139,507,708 (GRCm39) |
S1222F |
possibly damaging |
Het |
| Lefty2 |
T |
A |
1: 180,722,172 (GRCm39) |
I170N |
probably damaging |
Het |
| Lrrc14b |
A |
G |
13: 74,509,151 (GRCm39) |
F419L |
possibly damaging |
Het |
| Mkrn2 |
T |
A |
6: 115,591,583 (GRCm39) |
V302E |
possibly damaging |
Het |
| Msh4 |
T |
C |
3: 153,595,819 (GRCm39) |
K271R |
probably benign |
Het |
| Muc6 |
T |
C |
7: 141,226,351 (GRCm39) |
T1559A |
unknown |
Het |
| Naa16 |
T |
G |
14: 79,607,482 (GRCm39) |
R289S |
probably benign |
Het |
| Nab1 |
T |
A |
1: 52,529,610 (GRCm39) |
I96F |
possibly damaging |
Het |
| Ntn4 |
T |
C |
10: 93,480,506 (GRCm39) |
C77R |
|
Het |
| Nusap1 |
A |
G |
2: 119,479,456 (GRCm39) |
T424A |
possibly damaging |
Het |
| Or1p1 |
G |
T |
11: 74,180,305 (GRCm39) |
V278F |
probably damaging |
Het |
| Or2w6 |
A |
G |
13: 21,842,681 (GRCm39) |
Y271H |
probably damaging |
Het |
| Or4e2 |
T |
A |
14: 52,688,556 (GRCm39) |
S229T |
possibly damaging |
Het |
| Otog |
A |
G |
7: 45,949,894 (GRCm39) |
D267G |
probably benign |
Het |
| P2ry2 |
A |
C |
7: 100,647,358 (GRCm39) |
F316V |
probably benign |
Het |
| Padi2 |
A |
G |
4: 140,663,924 (GRCm39) |
T426A |
probably damaging |
Het |
| Pakap |
A |
T |
4: 57,883,192 (GRCm39) |
D845V |
probably damaging |
Het |
| Plxna2 |
T |
C |
1: 194,471,217 (GRCm39) |
F996S |
possibly damaging |
Het |
| Ppp4r3a |
T |
C |
12: 101,024,591 (GRCm39) |
M303V |
possibly damaging |
Het |
| Prelid2 |
A |
T |
18: 42,065,781 (GRCm39) |
W85R |
probably damaging |
Het |
| Rabep1 |
G |
A |
11: 70,810,034 (GRCm39) |
R532H |
probably damaging |
Het |
| Rabgap1l |
G |
A |
1: 160,528,443 (GRCm39) |
R388W |
possibly damaging |
Het |
| Rad51ap2 |
G |
T |
12: 11,508,675 (GRCm39) |
V866L |
probably benign |
Het |
| Rassf3 |
C |
A |
10: 121,311,991 (GRCm39) |
E9* |
probably null |
Het |
| Rbbp4 |
A |
C |
4: 129,216,180 (GRCm39) |
L189R |
probably benign |
Het |
| Rims2 |
T |
A |
15: 39,315,786 (GRCm39) |
C597* |
probably null |
Het |
| Rrp12 |
T |
A |
19: 41,871,929 (GRCm39) |
I452F |
probably benign |
Het |
| Snx29 |
G |
A |
16: 11,449,391 (GRCm39) |
A279T |
probably benign |
Het |
| Tdh |
C |
T |
14: 63,737,704 (GRCm39) |
S17N |
probably benign |
Het |
| Tgm5 |
T |
C |
2: 120,879,371 (GRCm39) |
D555G |
possibly damaging |
Het |
| Thbs1 |
A |
C |
2: 117,953,045 (GRCm39) |
D885A |
probably damaging |
Het |
| Tmprss9 |
C |
A |
10: 80,733,701 (GRCm39) |
A921E |
unknown |
Het |
| Trrap |
T |
A |
5: 144,783,226 (GRCm39) |
F3340I |
probably damaging |
Het |
| Vmn1r72 |
A |
T |
7: 11,404,145 (GRCm39) |
M101K |
possibly damaging |
Het |
| Vmn2r117 |
A |
G |
17: 23,679,445 (GRCm39) |
L593P |
probably benign |
Het |
| Washc2 |
G |
A |
6: 116,198,823 (GRCm39) |
G295E |
probably damaging |
Het |
| Zfp273 |
A |
T |
13: 67,974,177 (GRCm39) |
H435L |
probably damaging |
Het |
| Zfp395 |
A |
G |
14: 65,623,948 (GRCm39) |
E139G |
possibly damaging |
Het |
| Zfp512b |
G |
A |
2: 181,230,011 (GRCm39) |
A552V |
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 |
|
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 |
|
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'- TGGACACTGGTTCCTGAAGG -3'
(R):5'- TCAGTGTCAGAGCGCTTACAG -3'
Sequencing Primer
(F):5'- CTGAAGGGTGCCACCAAATCTG -3'
(R):5'- CGCTTACAGAGAAACTTCGATG -3'
|
| Posted On |
2021-10-11 |
Incidental Mutation