Incidental Mutation 'R1651:Crybg2'
ID |
186376 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Crybg2
|
Ensembl Gene |
ENSMUSG00000012123 |
Gene Name |
crystallin beta-gamma domain containing 2 |
Synonyms |
Aim1l |
MMRRC Submission |
039687-MU
|
Accession Numbers |
|
Essential gene? |
Probably essential
(E-score: 0.862)
|
Stock # |
R1651 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
4 |
Chromosomal Location |
133788126-133819815 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 133802214 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Lysine to Glutamic Acid
at position 1125
(K1125E)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000154159
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000121391]
[ENSMUST00000137053]
[ENSMUST00000149956]
[ENSMUST00000219402]
[ENSMUST00000227683]
|
AlphaFold |
A0A2I3BQG2 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000121391
AA Change: K816E
PolyPhen 2
Score 0.015 (Sensitivity: 0.96; Specificity: 0.79)
|
SMART Domains |
Protein: ENSMUSP00000114099 Gene: ENSMUSG00000012123 AA Change: K816E
Domain | Start | End | E-Value | Type |
low complexity region
|
171 |
205 |
N/A |
INTRINSIC |
low complexity region
|
210 |
226 |
N/A |
INTRINSIC |
low complexity region
|
414 |
443 |
N/A |
INTRINSIC |
low complexity region
|
560 |
582 |
N/A |
INTRINSIC |
low complexity region
|
608 |
625 |
N/A |
INTRINSIC |
coiled coil region
|
683 |
703 |
N/A |
INTRINSIC |
low complexity region
|
812 |
824 |
N/A |
INTRINSIC |
XTALbg
|
842 |
921 |
2.56e-7 |
SMART |
XTALbg
|
929 |
1010 |
9.33e-10 |
SMART |
XTALbg
|
1024 |
1110 |
5.06e-29 |
SMART |
XTALbg
|
1118 |
1199 |
1.4e-22 |
SMART |
XTALbg
|
1212 |
1291 |
2.22e-16 |
SMART |
XTALbg
|
1299 |
1379 |
1.69e-16 |
SMART |
RICIN
|
1383 |
1514 |
7.89e-2 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000137053
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000149504
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000149956
|
SMART Domains |
Protein: ENSMUSP00000123349 Gene: ENSMUSG00000012123
Domain | Start | End | E-Value | Type |
XTALbg
|
1 |
60 |
1.39e-2 |
SMART |
XTALbg
|
62 |
148 |
3.99e-27 |
SMART |
XTALbg
|
156 |
237 |
1.4e-22 |
SMART |
XTALbg
|
250 |
293 |
7.78e-2 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000219402
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000227683
AA Change: K1125E
PolyPhen 2
Score 0.068 (Sensitivity: 0.94; Specificity: 0.84)
|
Meta Mutation Damage Score |
0.0861 |
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.4%
- 10x: 96.5%
- 20x: 93.0%
|
Validation Efficiency |
97% (66/68) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 64 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abhd12 |
T |
A |
2: 150,690,341 (GRCm39) |
Q118L |
probably benign |
Het |
Acss1 |
A |
T |
2: 150,480,357 (GRCm39) |
V238D |
possibly damaging |
Het |
Adgrv1 |
T |
C |
13: 81,635,972 (GRCm39) |
I3512M |
probably benign |
Het |
Arhgap32 |
A |
G |
9: 32,171,096 (GRCm39) |
Q1292R |
probably damaging |
Het |
Bpnt2 |
A |
G |
4: 4,792,737 (GRCm39) |
F123L |
probably damaging |
Het |
Caskin1 |
C |
T |
17: 24,721,186 (GRCm39) |
R509C |
possibly damaging |
Het |
Cd47 |
T |
C |
16: 49,714,591 (GRCm39) |
V147A |
possibly damaging |
Het |
Cdc20b |
T |
A |
13: 113,215,258 (GRCm39) |
Y275* |
probably null |
Het |
Chd4 |
A |
G |
6: 125,100,547 (GRCm39) |
D1745G |
possibly damaging |
Het |
Crmp1 |
T |
A |
5: 37,430,783 (GRCm39) |
S250T |
probably damaging |
Het |
Csf1r |
T |
A |
18: 61,243,473 (GRCm39) |
I163N |
possibly damaging |
Het |
Dicer1 |
T |
C |
12: 104,675,064 (GRCm39) |
T733A |
probably damaging |
Het |
Edar |
A |
G |
10: 58,441,875 (GRCm39) |
V339A |
possibly damaging |
Het |
Efcab3 |
A |
G |
11: 104,611,492 (GRCm39) |
R445G |
probably benign |
Het |
Efcab6 |
A |
G |
15: 83,755,194 (GRCm39) |
I1374T |
possibly damaging |
Het |
Erbb2 |
G |
A |
11: 98,324,283 (GRCm39) |
R757K |
probably damaging |
Het |
Fam98a |
A |
G |
17: 75,854,710 (GRCm39) |
V33A |
probably benign |
Het |
Farp2 |
T |
C |
1: 93,531,191 (GRCm39) |
|
probably null |
Het |
Fcmr |
A |
G |
1: 130,805,988 (GRCm39) |
T315A |
probably benign |
Het |
Gdf9 |
G |
A |
11: 53,324,576 (GRCm39) |
R115Q |
probably damaging |
Het |
Gm22697+Rbm27 |
AGGTCCAGGCCCAGGCCCTGGTCCTGGCCCTGGCCCTGGTCCCGGCCCAGGCCC |
AGGTCCCGGCCCAGGCCC |
18: 42,434,948 (GRCm39) |
|
probably benign |
Het |
H2-M10.1 |
A |
G |
17: 36,636,648 (GRCm39) |
V52A |
probably damaging |
Het |
Hspg2 |
T |
A |
4: 137,260,748 (GRCm39) |
C1582* |
probably null |
Het |
Icam2 |
C |
T |
11: 106,268,782 (GRCm39) |
V229M |
probably damaging |
Het |
Itga7 |
C |
T |
10: 128,784,693 (GRCm39) |
P735L |
probably benign |
Het |
Kbtbd3 |
C |
A |
9: 4,330,589 (GRCm39) |
P321Q |
possibly damaging |
Het |
Kcnma1 |
T |
A |
14: 23,364,262 (GRCm39) |
T997S |
probably damaging |
Het |
Kifc5b |
T |
C |
17: 27,144,504 (GRCm39) |
F541S |
probably damaging |
Het |
Klhdc9 |
C |
A |
1: 171,188,016 (GRCm39) |
V72L |
probably benign |
Het |
Krt84 |
G |
A |
15: 101,434,398 (GRCm39) |
S523F |
possibly damaging |
Het |
Lrrtm4 |
A |
G |
6: 79,999,511 (GRCm39) |
T308A |
probably benign |
Het |
Map1b |
T |
C |
13: 99,569,091 (GRCm39) |
E1210G |
unknown |
Het |
Mocs3 |
A |
G |
2: 168,073,489 (GRCm39) |
Y312C |
probably damaging |
Het |
Mrps7 |
G |
T |
11: 115,495,581 (GRCm39) |
E40* |
probably null |
Het |
Msantd5f1 |
A |
T |
4: 73,605,621 (GRCm39) |
N344I |
possibly damaging |
Het |
Msln |
T |
C |
17: 25,972,382 (GRCm39) |
H50R |
probably benign |
Het |
Myb |
A |
G |
10: 21,002,097 (GRCm39) |
F748S |
probably damaging |
Het |
Myo10 |
C |
A |
15: 25,742,455 (GRCm39) |
H590N |
probably damaging |
Het |
Naip5 |
T |
C |
13: 100,358,419 (GRCm39) |
E939G |
probably benign |
Het |
Nbeal1 |
T |
A |
1: 60,239,278 (GRCm39) |
V107E |
probably damaging |
Het |
Nrcam |
A |
T |
12: 44,623,462 (GRCm39) |
N1011I |
probably damaging |
Het |
Or14c44 |
A |
G |
7: 86,057,078 (GRCm39) |
|
probably benign |
Het |
Or1ak2 |
T |
C |
2: 36,827,335 (GRCm39) |
L68P |
probably damaging |
Het |
Or4c118 |
A |
C |
2: 88,975,346 (GRCm39) |
V7G |
probably damaging |
Het |
Pcgf6 |
A |
T |
19: 47,037,441 (GRCm39) |
C153S |
probably damaging |
Het |
Phrf1 |
T |
C |
7: 140,817,434 (GRCm39) |
V81A |
probably benign |
Het |
Ppp4r4 |
A |
G |
12: 103,550,331 (GRCm39) |
N36D |
probably benign |
Het |
Prkch |
A |
G |
12: 73,805,775 (GRCm39) |
T517A |
possibly damaging |
Het |
Rasal1 |
A |
T |
5: 120,790,910 (GRCm39) |
K33* |
probably null |
Het |
Rp1l1 |
G |
A |
14: 64,268,442 (GRCm39) |
E1343K |
probably damaging |
Het |
Serpinb6e |
T |
C |
13: 34,020,406 (GRCm39) |
D234G |
probably benign |
Het |
Setd2 |
A |
G |
9: 110,378,932 (GRCm39) |
S632G |
probably benign |
Het |
Smyd3 |
T |
G |
1: 178,871,441 (GRCm39) |
I313L |
probably benign |
Het |
Tdrd9 |
C |
A |
12: 111,991,140 (GRCm39) |
D543E |
probably damaging |
Het |
Tet1 |
A |
G |
10: 62,715,453 (GRCm39) |
L114P |
probably damaging |
Het |
Tmprss11c |
G |
A |
5: 86,387,283 (GRCm39) |
P212S |
probably damaging |
Het |
Tmx2 |
A |
T |
2: 84,506,461 (GRCm39) |
M77K |
probably damaging |
Het |
Traf3 |
T |
G |
12: 111,228,470 (GRCm39) |
D560E |
probably damaging |
Het |
Trappc12 |
C |
T |
12: 28,741,776 (GRCm39) |
M711I |
probably benign |
Het |
Trim2 |
A |
G |
3: 84,074,957 (GRCm39) |
|
probably null |
Het |
Vmn2r18 |
A |
G |
5: 151,485,464 (GRCm39) |
S677P |
probably damaging |
Het |
Wdr7 |
T |
A |
18: 63,853,847 (GRCm39) |
L60* |
probably null |
Het |
Wdr93 |
T |
C |
7: 79,399,830 (GRCm39) |
F140L |
probably benign |
Het |
Zfp638 |
A |
G |
6: 83,931,719 (GRCm39) |
T802A |
probably benign |
Het |
|
Other mutations in Crybg2 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01083:Crybg2
|
APN |
4 |
133,802,755 (GRCm39) |
missense |
possibly damaging |
0.57 |
IGL01147:Crybg2
|
APN |
4 |
133,816,575 (GRCm39) |
splice site |
probably null |
|
IGL02003:Crybg2
|
APN |
4 |
133,799,767 (GRCm39) |
missense |
probably benign |
|
IGL02468:Crybg2
|
APN |
4 |
133,809,898 (GRCm39) |
missense |
probably damaging |
1.00 |
R0089:Crybg2
|
UTSW |
4 |
133,808,505 (GRCm39) |
missense |
probably damaging |
1.00 |
R0414:Crybg2
|
UTSW |
4 |
133,799,947 (GRCm39) |
small deletion |
probably benign |
|
R0579:Crybg2
|
UTSW |
4 |
133,800,049 (GRCm39) |
missense |
probably damaging |
0.97 |
R0634:Crybg2
|
UTSW |
4 |
133,802,615 (GRCm39) |
splice site |
probably benign |
|
R0638:Crybg2
|
UTSW |
4 |
133,801,765 (GRCm39) |
missense |
probably damaging |
1.00 |
R0686:Crybg2
|
UTSW |
4 |
133,801,837 (GRCm39) |
small deletion |
probably benign |
|
R1583:Crybg2
|
UTSW |
4 |
133,808,770 (GRCm39) |
missense |
probably damaging |
1.00 |
R1651:Crybg2
|
UTSW |
4 |
133,802,136 (GRCm39) |
missense |
possibly damaging |
0.84 |
R1752:Crybg2
|
UTSW |
4 |
133,800,961 (GRCm39) |
missense |
probably damaging |
0.96 |
R1883:Crybg2
|
UTSW |
4 |
133,801,594 (GRCm39) |
nonsense |
probably null |
|
R1903:Crybg2
|
UTSW |
4 |
133,806,167 (GRCm39) |
missense |
probably damaging |
1.00 |
R2042:Crybg2
|
UTSW |
4 |
133,814,844 (GRCm39) |
missense |
possibly damaging |
0.89 |
R2081:Crybg2
|
UTSW |
4 |
133,816,131 (GRCm39) |
missense |
possibly damaging |
0.82 |
R2229:Crybg2
|
UTSW |
4 |
133,801,837 (GRCm39) |
small deletion |
probably benign |
|
R2321:Crybg2
|
UTSW |
4 |
133,801,822 (GRCm39) |
missense |
probably benign |
0.38 |
R2392:Crybg2
|
UTSW |
4 |
133,799,925 (GRCm39) |
missense |
probably benign |
0.01 |
R2939:Crybg2
|
UTSW |
4 |
133,809,745 (GRCm39) |
missense |
possibly damaging |
0.46 |
R2940:Crybg2
|
UTSW |
4 |
133,809,745 (GRCm39) |
missense |
possibly damaging |
0.46 |
R3028:Crybg2
|
UTSW |
4 |
133,801,095 (GRCm39) |
missense |
probably benign |
0.19 |
R4458:Crybg2
|
UTSW |
4 |
133,802,205 (GRCm39) |
missense |
probably benign |
0.32 |
R4487:Crybg2
|
UTSW |
4 |
133,801,512 (GRCm39) |
missense |
probably benign |
0.00 |
R4680:Crybg2
|
UTSW |
4 |
133,800,029 (GRCm39) |
frame shift |
probably null |
|
R4681:Crybg2
|
UTSW |
4 |
133,800,029 (GRCm39) |
frame shift |
probably null |
|
R4682:Crybg2
|
UTSW |
4 |
133,800,029 (GRCm39) |
frame shift |
probably null |
|
R4766:Crybg2
|
UTSW |
4 |
133,816,663 (GRCm39) |
missense |
probably damaging |
1.00 |
R5079:Crybg2
|
UTSW |
4 |
133,801,564 (GRCm39) |
missense |
possibly damaging |
0.83 |
R5291:Crybg2
|
UTSW |
4 |
133,800,738 (GRCm39) |
missense |
probably benign |
0.00 |
R5453:Crybg2
|
UTSW |
4 |
133,806,147 (GRCm39) |
critical splice acceptor site |
probably null |
|
R5711:Crybg2
|
UTSW |
4 |
133,809,938 (GRCm39) |
missense |
probably damaging |
0.97 |
R5834:Crybg2
|
UTSW |
4 |
133,801,434 (GRCm39) |
missense |
probably benign |
0.12 |
R5969:Crybg2
|
UTSW |
4 |
133,803,003 (GRCm39) |
splice site |
probably null |
|
R5976:Crybg2
|
UTSW |
4 |
133,801,837 (GRCm39) |
small deletion |
probably benign |
|
R6022:Crybg2
|
UTSW |
4 |
133,801,584 (GRCm39) |
nonsense |
probably null |
|
R6046:Crybg2
|
UTSW |
4 |
133,819,388 (GRCm39) |
missense |
probably damaging |
1.00 |
R6088:Crybg2
|
UTSW |
4 |
133,803,101 (GRCm39) |
splice site |
probably null |
|
R6196:Crybg2
|
UTSW |
4 |
133,808,450 (GRCm39) |
missense |
probably damaging |
0.99 |
R6246:Crybg2
|
UTSW |
4 |
133,816,657 (GRCm39) |
missense |
probably damaging |
0.96 |
R6303:Crybg2
|
UTSW |
4 |
133,814,898 (GRCm39) |
missense |
possibly damaging |
0.66 |
R6320:Crybg2
|
UTSW |
4 |
133,808,737 (GRCm39) |
missense |
probably damaging |
1.00 |
R6354:Crybg2
|
UTSW |
4 |
133,818,447 (GRCm39) |
missense |
probably benign |
0.39 |
R6737:Crybg2
|
UTSW |
4 |
133,800,001 (GRCm39) |
missense |
probably damaging |
0.99 |
R6744:Crybg2
|
UTSW |
4 |
133,816,207 (GRCm39) |
missense |
probably damaging |
1.00 |
R6847:Crybg2
|
UTSW |
4 |
133,792,857 (GRCm39) |
missense |
probably benign |
0.40 |
R6891:Crybg2
|
UTSW |
4 |
133,809,148 (GRCm39) |
missense |
probably benign |
0.32 |
R7043:Crybg2
|
UTSW |
4 |
133,818,447 (GRCm39) |
missense |
probably benign |
0.39 |
R7133:Crybg2
|
UTSW |
4 |
133,792,754 (GRCm39) |
missense |
probably benign |
0.09 |
R7166:Crybg2
|
UTSW |
4 |
133,788,193 (GRCm39) |
missense |
probably damaging |
0.96 |
R7412:Crybg2
|
UTSW |
4 |
133,801,434 (GRCm39) |
missense |
probably benign |
0.12 |
R7711:Crybg2
|
UTSW |
4 |
133,792,844 (GRCm39) |
missense |
probably benign |
0.00 |
R7745:Crybg2
|
UTSW |
4 |
133,816,156 (GRCm39) |
missense |
possibly damaging |
0.92 |
R7782:Crybg2
|
UTSW |
4 |
133,801,137 (GRCm39) |
missense |
probably benign |
0.00 |
R7871:Crybg2
|
UTSW |
4 |
133,814,910 (GRCm39) |
missense |
probably damaging |
1.00 |
R7943:Crybg2
|
UTSW |
4 |
133,800,295 (GRCm39) |
missense |
probably damaging |
0.97 |
R8008:Crybg2
|
UTSW |
4 |
133,818,415 (GRCm39) |
missense |
probably damaging |
1.00 |
R8017:Crybg2
|
UTSW |
4 |
133,800,484 (GRCm39) |
missense |
possibly damaging |
0.95 |
R8292:Crybg2
|
UTSW |
4 |
133,802,842 (GRCm39) |
missense |
probably damaging |
1.00 |
R8391:Crybg2
|
UTSW |
4 |
133,803,035 (GRCm39) |
missense |
probably damaging |
0.97 |
R8510:Crybg2
|
UTSW |
4 |
133,800,670 (GRCm39) |
missense |
probably benign |
|
R8535:Crybg2
|
UTSW |
4 |
133,808,514 (GRCm39) |
missense |
probably damaging |
1.00 |
R8695:Crybg2
|
UTSW |
4 |
133,792,766 (GRCm39) |
missense |
possibly damaging |
0.55 |
R8789:Crybg2
|
UTSW |
4 |
133,801,554 (GRCm39) |
missense |
probably benign |
0.00 |
R8870:Crybg2
|
UTSW |
4 |
133,818,525 (GRCm39) |
missense |
possibly damaging |
0.88 |
R9052:Crybg2
|
UTSW |
4 |
133,803,035 (GRCm39) |
missense |
probably damaging |
0.97 |
R9071:Crybg2
|
UTSW |
4 |
133,818,542 (GRCm39) |
missense |
probably damaging |
1.00 |
R9088:Crybg2
|
UTSW |
4 |
133,799,890 (GRCm39) |
missense |
probably damaging |
0.99 |
R9154:Crybg2
|
UTSW |
4 |
133,792,620 (GRCm39) |
missense |
probably benign |
0.02 |
R9440:Crybg2
|
UTSW |
4 |
133,801,602 (GRCm39) |
missense |
probably benign |
0.00 |
R9540:Crybg2
|
UTSW |
4 |
133,816,225 (GRCm39) |
missense |
probably damaging |
0.98 |
R9606:Crybg2
|
UTSW |
4 |
133,801,383 (GRCm39) |
nonsense |
probably null |
|
R9641:Crybg2
|
UTSW |
4 |
133,816,620 (GRCm39) |
nonsense |
probably null |
|
R9719:Crybg2
|
UTSW |
4 |
133,793,148 (GRCm39) |
missense |
probably benign |
0.01 |
R9734:Crybg2
|
UTSW |
4 |
133,801,962 (GRCm39) |
missense |
probably benign |
0.00 |
X0064:Crybg2
|
UTSW |
4 |
133,816,587 (GRCm39) |
missense |
probably damaging |
0.98 |
Z1176:Crybg2
|
UTSW |
4 |
133,809,971 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Predicted Primers |
PCR Primer
(F):5'- AGCCTTCTCTTTGGCAATCTGGTG -3'
(R):5'- CCTGAGAAAGCATAGCAGGTGTCC -3'
Sequencing Primer
(F):5'- TGCCAGCCAACAAGGATG -3'
(R):5'- AAATGTATGGGGTCACCACTTCC -3'
|
Posted On |
2014-05-09 |