Incidental Mutation 'R5976:Crybg2'
ID |
471749 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Crybg2
|
Ensembl Gene |
ENSMUSG00000012123 |
Gene Name |
crystallin beta-gamma domain containing 2 |
Synonyms |
Aim1l |
MMRRC Submission |
044158-MU
|
Accession Numbers |
|
Essential gene? |
Probably essential
(E-score: 0.876)
|
Stock # |
R5976 (G1)
|
Quality Score |
116 |
Status
|
Not validated
|
Chromosome |
4 |
Chromosomal Location |
133788126-133819815 bp(+) (GRCm39) |
Type of Mutation |
small deletion (1 aa in frame mutation) |
DNA Base Change (assembly) |
TGGAGGAGGAGGAGGAGGAG to TGGAGGAGGAGGAGGAG
at 133801837 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
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
|
SMART Domains |
Protein: ENSMUSP00000114099 Gene: ENSMUSG00000012123
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
|
Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 98.0%
- 20x: 94.2%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 67 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Ankar |
T |
C |
1: 72,682,450 (GRCm39) |
T1154A |
probably benign |
Het |
Ankrd26 |
A |
T |
6: 118,494,855 (GRCm39) |
|
probably null |
Het |
Arih2 |
A |
T |
9: 108,485,172 (GRCm39) |
*54R |
probably null |
Het |
AW146154 |
T |
G |
7: 41,129,721 (GRCm39) |
K465T |
probably damaging |
Het |
Bend3 |
A |
G |
10: 43,386,540 (GRCm39) |
Y311C |
probably benign |
Het |
Bltp2 |
G |
A |
11: 78,174,955 (GRCm39) |
A1697T |
probably benign |
Het |
Ccdc110 |
A |
T |
8: 46,396,536 (GRCm39) |
Y809F |
possibly damaging |
Het |
Ccnh |
C |
T |
13: 85,338,982 (GRCm39) |
P76L |
probably damaging |
Het |
Chaf1a |
T |
A |
17: 56,371,115 (GRCm39) |
C667S |
probably damaging |
Het |
Clca3a1 |
A |
T |
3: 144,452,636 (GRCm39) |
Y616N |
probably damaging |
Het |
Cldn4 |
A |
G |
5: 134,975,410 (GRCm39) |
C64R |
probably damaging |
Het |
Dclk2 |
C |
A |
3: 86,694,532 (GRCm39) |
R752L |
possibly damaging |
Het |
Dzank1 |
C |
A |
2: 144,343,409 (GRCm39) |
G318W |
probably damaging |
Het |
Edem1 |
T |
A |
6: 108,819,923 (GRCm39) |
I236K |
probably damaging |
Het |
Eif4e1b |
T |
C |
13: 54,932,635 (GRCm39) |
F75L |
probably damaging |
Het |
Elmo3 |
A |
G |
8: 106,034,279 (GRCm39) |
Y266C |
probably damaging |
Het |
Enpep |
A |
G |
3: 129,092,773 (GRCm39) |
S509P |
probably damaging |
Het |
Exoc8 |
A |
G |
8: 125,623,392 (GRCm39) |
M325T |
probably benign |
Het |
Fah |
A |
G |
7: 84,243,949 (GRCm39) |
M270T |
probably benign |
Het |
Gabbr1 |
T |
C |
17: 37,378,754 (GRCm39) |
L532P |
probably damaging |
Het |
Gm10770 |
T |
A |
2: 150,021,320 (GRCm39) |
K66* |
probably null |
Het |
Gprc5c |
A |
T |
11: 114,755,313 (GRCm39) |
Q330L |
possibly damaging |
Het |
Grin3a |
T |
A |
4: 49,792,602 (GRCm39) |
H377L |
probably damaging |
Het |
Hipk3 |
T |
C |
2: 104,301,529 (GRCm39) |
E221G |
probably damaging |
Het |
Hsd17b6 |
T |
A |
10: 127,827,308 (GRCm39) |
M255L |
probably benign |
Het |
Ighv1-7 |
T |
A |
12: 114,502,379 (GRCm39) |
E29D |
probably benign |
Het |
Ing3 |
T |
A |
6: 21,971,173 (GRCm39) |
S326T |
probably benign |
Het |
Ipo7 |
T |
C |
7: 109,648,014 (GRCm39) |
L632P |
probably damaging |
Het |
Kdm6b |
A |
G |
11: 69,294,614 (GRCm39) |
|
probably null |
Het |
Kif21a |
T |
G |
15: 90,820,015 (GRCm39) |
D1583A |
probably damaging |
Het |
Lama2 |
C |
T |
10: 27,066,672 (GRCm39) |
V1070I |
probably benign |
Het |
Lrp1 |
A |
T |
10: 127,419,770 (GRCm39) |
S946R |
probably damaging |
Het |
Lrrc37a |
A |
G |
11: 103,389,897 (GRCm39) |
S1843P |
possibly damaging |
Het |
Ltbp1 |
T |
C |
17: 75,597,078 (GRCm39) |
Y517H |
probably damaging |
Het |
Map2k4 |
T |
A |
11: 65,600,778 (GRCm39) |
N51I |
probably benign |
Het |
Mfsd2b |
G |
T |
12: 4,916,522 (GRCm39) |
A216D |
probably damaging |
Het |
Nbea |
T |
C |
3: 55,761,268 (GRCm39) |
T2025A |
probably benign |
Het |
Neb |
A |
G |
2: 52,106,928 (GRCm39) |
V4162A |
possibly damaging |
Het |
Nr3c1 |
A |
T |
18: 39,554,602 (GRCm39) |
F599I |
probably damaging |
Het |
Nsun2 |
T |
G |
13: 69,771,271 (GRCm39) |
|
probably null |
Het |
Or10ab4 |
T |
A |
7: 107,655,005 (GRCm39) |
M272K |
possibly damaging |
Het |
Or8b37 |
G |
T |
9: 37,958,997 (GRCm39) |
V160F |
possibly damaging |
Het |
Otoa |
T |
A |
7: 120,726,936 (GRCm39) |
W524R |
probably benign |
Het |
Paip1 |
T |
A |
13: 119,593,533 (GRCm39) |
D182E |
probably damaging |
Het |
Pde1a |
G |
A |
2: 79,698,586 (GRCm39) |
Q415* |
probably null |
Het |
Pfkfb2 |
T |
A |
1: 130,635,816 (GRCm39) |
K72* |
probably null |
Het |
Pigg |
A |
G |
5: 108,480,057 (GRCm39) |
E444G |
probably null |
Het |
Plec |
T |
C |
15: 76,073,237 (GRCm39) |
Y669C |
probably damaging |
Het |
Ptp4a3 |
T |
C |
15: 73,627,885 (GRCm39) |
V94A |
possibly damaging |
Het |
Ptprg |
A |
G |
14: 12,211,625 (GRCm38) |
E969G |
probably damaging |
Het |
R3hcc1l |
T |
A |
19: 42,551,789 (GRCm39) |
V262E |
probably benign |
Het |
Ranbp3l |
T |
G |
15: 9,030,916 (GRCm39) |
F65C |
possibly damaging |
Het |
Rbm19 |
T |
A |
5: 120,278,372 (GRCm39) |
S718R |
probably benign |
Het |
Recql4 |
C |
A |
15: 76,593,624 (GRCm39) |
R162L |
probably benign |
Het |
Rest |
T |
C |
5: 77,416,119 (GRCm39) |
L111P |
probably benign |
Het |
Rgma |
T |
C |
7: 73,059,216 (GRCm39) |
S13P |
probably damaging |
Het |
Rogdi |
T |
A |
16: 4,831,175 (GRCm39) |
I31F |
probably benign |
Het |
Serpinb9e |
T |
A |
13: 33,439,112 (GRCm39) |
D179E |
probably benign |
Het |
Slc1a5 |
T |
C |
7: 16,529,807 (GRCm39) |
C409R |
probably damaging |
Het |
Slc25a38 |
A |
G |
9: 119,945,613 (GRCm39) |
T38A |
probably damaging |
Het |
Spag17 |
C |
T |
3: 100,003,107 (GRCm39) |
Q1897* |
probably null |
Het |
St7 |
C |
A |
6: 17,694,221 (GRCm39) |
A4E |
possibly damaging |
Het |
Tbcel |
T |
A |
9: 42,350,499 (GRCm39) |
I263F |
possibly damaging |
Het |
Tmtc3 |
A |
G |
10: 100,312,534 (GRCm39) |
V103A |
probably benign |
Het |
Tnc |
G |
A |
4: 63,936,403 (GRCm39) |
P178S |
probably benign |
Het |
Vwf |
A |
G |
6: 125,580,426 (GRCm39) |
D558G |
|
Het |
Zfp541 |
A |
G |
7: 15,810,344 (GRCm39) |
K127R |
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 |
133,802,214 (GRCm39) |
missense |
probably benign |
0.07 |
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 |
|
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'- TGCAGACCTGGAGATTTTCCTG -3'
(R):5'- AAGTAGGTCGGTTACTGGGC -3'
Sequencing Primer
(F):5'- CCTGGATACTCTGAGGAGCATG -3'
(R):5'- ACTGGGCTGAGGTTCCG -3'
|
Posted On |
2017-03-31 |