Incidental Mutation 'R6242:Crybg3'
| ID |
505332 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Crybg3
|
| Ensembl Gene |
ENSMUSG00000022723 |
| Gene Name |
beta-gamma crystallin domain containing 3 |
| Synonyms |
Gm9581 |
| MMRRC Submission |
044434-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.143)
|
| Stock # |
R6242 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
16 |
| Chromosomal Location |
59312451-59421410 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 59376053 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Alanine
at position 1734
(T1734A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000156047
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000044604]
[ENSMUST00000139989]
[ENSMUST00000172910]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000044604
AA Change: T20A
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000037682
Gene: ENSMUSG00000022723
AA Change: T20A
| 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: ENSMUST00000139989
|
| SMART Domains |
Protein: ENSMUSP00000122663
Gene: ENSMUSG00000022723
| Domain | Start | End | E-Value | Type |
|---|
|
XTALbg
|
1 |
86 |
2.15e-3 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000172910
AA Change: T1734A
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.7%
- 10x: 98.5%
- 20x: 95.9%
|
| Validation Efficiency |
99% (75/76) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 76 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adcy6 |
G |
T |
15: 98,501,896 (GRCm39) |
C239* |
probably null |
Het |
| Akr1c6 |
A |
G |
13: 4,486,361 (GRCm39) |
Q56R |
probably benign |
Het |
| Apaf1 |
T |
A |
10: 90,898,025 (GRCm39) |
D244V |
probably damaging |
Het |
| Araf |
G |
T |
X: 20,726,339 (GRCm39) |
R601L |
probably damaging |
Homo |
| Arhgef11 |
C |
A |
3: 87,635,385 (GRCm39) |
A898E |
probably benign |
Het |
| Asxl3 |
A |
T |
18: 22,655,433 (GRCm39) |
N1148Y |
probably damaging |
Het |
| Atf6 |
T |
A |
1: 170,621,545 (GRCm39) |
Q492L |
possibly damaging |
Het |
| Atrnl1 |
G |
T |
19: 57,630,910 (GRCm39) |
V226F |
probably benign |
Het |
| Cfap68 |
C |
T |
9: 50,675,215 (GRCm39) |
E148K |
probably benign |
Het |
| Cntnap1 |
A |
T |
11: 101,073,364 (GRCm39) |
Y615F |
probably damaging |
Het |
| Ctdp1 |
A |
C |
18: 80,502,427 (GRCm39) |
V161G |
probably damaging |
Het |
| Cyp4a30b |
T |
A |
4: 115,311,587 (GRCm39) |
V85E |
possibly damaging |
Het |
| Dnase1l1 |
C |
T |
X: 73,320,644 (GRCm39) |
|
probably null |
Homo |
| Epha6 |
A |
T |
16: 59,503,025 (GRCm39) |
W961R |
probably damaging |
Het |
| Fam114a1 |
A |
G |
5: 65,188,695 (GRCm39) |
E475G |
probably damaging |
Het |
| Fam186a |
A |
G |
15: 99,837,788 (GRCm39) |
Y2819H |
unknown |
Het |
| Fancm |
A |
T |
12: 65,163,216 (GRCm39) |
Q1460L |
probably benign |
Het |
| Fancm |
C |
A |
12: 65,163,223 (GRCm39) |
N1462K |
probably benign |
Het |
| Fgf14 |
T |
C |
14: 124,913,940 (GRCm39) |
K64E |
probably benign |
Het |
| Fndc5 |
T |
C |
4: 129,033,688 (GRCm39) |
V152A |
probably benign |
Het |
| Garem1 |
C |
G |
18: 21,262,229 (GRCm39) |
V862L |
possibly damaging |
Het |
| Grin3b |
G |
A |
10: 79,812,013 (GRCm39) |
G814R |
probably damaging |
Het |
| Hacd4 |
A |
G |
4: 88,332,524 (GRCm39) |
S226P |
probably benign |
Het |
| Htt |
A |
G |
5: 35,003,356 (GRCm39) |
Y1277C |
probably damaging |
Het |
| Igkv1-131 |
T |
A |
6: 67,743,062 (GRCm39) |
D107V |
probably damaging |
Het |
| Iqcc |
T |
C |
4: 129,510,639 (GRCm39) |
D292G |
probably damaging |
Het |
| Krtap13 |
C |
T |
16: 88,548,384 (GRCm39) |
V35I |
probably damaging |
Het |
| Liat1 |
T |
C |
11: 75,890,981 (GRCm39) |
S32P |
probably damaging |
Het |
| Lrrc59 |
G |
T |
11: 94,525,809 (GRCm39) |
L132F |
possibly damaging |
Het |
| Mcub |
T |
C |
3: 129,709,444 (GRCm39) |
S290G |
probably benign |
Het |
| Mettl4 |
A |
G |
17: 95,042,802 (GRCm39) |
W345R |
probably damaging |
Het |
| Msgn1 |
G |
A |
12: 11,258,526 (GRCm39) |
R142W |
probably damaging |
Het |
| Myo5c |
A |
G |
9: 75,180,893 (GRCm39) |
I761V |
probably benign |
Het |
| Neb |
T |
A |
2: 52,066,824 (GRCm39) |
K5879M |
probably damaging |
Het |
| Nkd2 |
C |
T |
13: 73,970,905 (GRCm39) |
V226M |
probably damaging |
Het |
| Nt5el |
T |
A |
13: 105,246,048 (GRCm39) |
V203E |
probably benign |
Het |
| Or51a24 |
T |
G |
7: 103,733,771 (GRCm39) |
H172P |
possibly damaging |
Het |
| Or5b106 |
T |
A |
19: 13,123,450 (GRCm39) |
H191L |
probably benign |
Het |
| Parp4 |
T |
A |
14: 56,832,856 (GRCm39) |
L393* |
probably null |
Het |
| Pcdhgb6 |
G |
A |
18: 37,876,608 (GRCm39) |
V439I |
probably benign |
Het |
| Pde1a |
T |
A |
2: 79,959,136 (GRCm39) |
T15S |
probably benign |
Het |
| Pgr |
T |
A |
9: 8,900,980 (GRCm39) |
I171N |
probably benign |
Het |
| Podxl |
T |
A |
6: 31,503,180 (GRCm39) |
D296V |
probably benign |
Het |
| Polr3e |
A |
T |
7: 120,539,690 (GRCm39) |
E479V |
possibly damaging |
Het |
| Prdm10 |
A |
T |
9: 31,252,548 (GRCm39) |
H427L |
possibly damaging |
Het |
| Prl5a1 |
A |
T |
13: 28,326,538 (GRCm39) |
K5* |
probably null |
Het |
| Prph |
A |
G |
15: 98,955,004 (GRCm39) |
S325G |
probably damaging |
Het |
| Rabl2 |
C |
A |
15: 89,468,555 (GRCm39) |
W49L |
probably benign |
Het |
| Rbbp8nl |
T |
A |
2: 179,922,767 (GRCm39) |
I209F |
probably damaging |
Het |
| Rsf1 |
ATGGCG |
ATGGCGACGGTGGCG |
7: 97,229,111 (GRCm39) |
|
probably benign |
Homo |
| Scn7a |
T |
C |
2: 66,531,110 (GRCm39) |
D589G |
probably benign |
Het |
| Sdr42e1 |
A |
T |
8: 118,389,936 (GRCm39) |
L235Q |
possibly damaging |
Het |
| Serpina3a |
T |
C |
12: 104,082,260 (GRCm39) |
M11T |
probably benign |
Het |
| Slc6a4 |
A |
T |
11: 76,909,184 (GRCm39) |
K399* |
probably null |
Het |
| Slco4c1 |
T |
A |
1: 96,767,008 (GRCm39) |
T337S |
probably damaging |
Het |
| Spc25 |
A |
T |
2: 69,027,555 (GRCm39) |
F112L |
probably damaging |
Het |
| Swt1 |
A |
G |
1: 151,283,365 (GRCm39) |
S331P |
probably benign |
Het |
| Tab1 |
A |
T |
15: 80,039,971 (GRCm39) |
K264* |
probably null |
Het |
| Tagln3 |
T |
A |
16: 45,544,701 (GRCm39) |
|
probably benign |
Het |
| Tbc1d2 |
C |
T |
4: 46,629,912 (GRCm39) |
G252R |
probably benign |
Het |
| Tbck |
A |
G |
3: 132,400,189 (GRCm39) |
D80G |
probably benign |
Het |
| Tcim |
A |
T |
8: 24,928,911 (GRCm39) |
M1K |
probably null |
Het |
| Thap2 |
A |
G |
10: 115,208,831 (GRCm39) |
S37P |
unknown |
Het |
| Tjp2 |
A |
T |
19: 24,076,967 (GRCm39) |
|
probably null |
Het |
| Tln1 |
G |
A |
4: 43,533,145 (GRCm39) |
S2390L |
probably damaging |
Het |
| Trpm5 |
T |
G |
7: 142,626,919 (GRCm39) |
I1101L |
probably benign |
Het |
| Ttc3 |
T |
G |
16: 94,243,554 (GRCm39) |
M831R |
probably benign |
Het |
| Tulp3 |
A |
G |
6: 128,300,050 (GRCm39) |
C459R |
probably damaging |
Het |
| Uaca |
G |
A |
9: 60,777,326 (GRCm39) |
R571Q |
probably damaging |
Het |
| Unc13b |
A |
T |
4: 43,165,800 (GRCm39) |
T195S |
possibly damaging |
Het |
| Urgcp |
A |
G |
11: 5,666,691 (GRCm39) |
L549P |
probably benign |
Het |
| Usp10 |
G |
T |
8: 120,668,577 (GRCm39) |
A293S |
probably benign |
Het |
| Vmn2r23 |
A |
G |
6: 123,681,359 (GRCm39) |
E89G |
possibly damaging |
Het |
| Vmn2r75 |
A |
C |
7: 85,814,592 (GRCm39) |
D300E |
probably damaging |
Het |
| Wif1 |
T |
C |
10: 120,870,366 (GRCm39) |
I40T |
possibly damaging |
Het |
| Zmynd8 |
G |
A |
2: 165,740,867 (GRCm39) |
R6C |
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 |
|
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 |
|
| Posted On |
2018-02-28 |
Incidental Mutation