Incidental Mutation 'R6196:Crybg2'
| ID |
502911 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Crybg2
|
| Ensembl Gene |
ENSMUSG00000012123 |
| Gene Name |
crystallin beta-gamma domain containing 2 |
| Synonyms |
Aim1l |
| MMRRC Submission |
044336-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.876)
|
| Stock # |
R6196 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
4 |
| Chromosomal Location |
133788126-133819815 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to A
at 133808450 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Arginine
at position 1350
(S1350R)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000154159
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000121391]
[ENSMUST00000149956]
[ENSMUST00000227683]
|
| AlphaFold |
A0A2I3BQG2 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000121391
AA Change: S1041R
PolyPhen 2
Score 0.941 (Sensitivity: 0.80; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000114099
Gene: ENSMUSG00000012123
AA Change: S1041R
| 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 |
noncoding transcript
Transcript: ENSMUST00000132872
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000137529
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000140125
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000145122
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000149080
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000149504
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000149956
AA Change: S79R
PolyPhen 2
Score 0.900 (Sensitivity: 0.82; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000123349
Gene: ENSMUSG00000012123
AA Change: S79R
| 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 damaging
Transcript: ENSMUST00000227683
AA Change: S1350R
PolyPhen 2
Score 0.987 (Sensitivity: 0.73; Specificity: 0.96)
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000153392
|
| Meta Mutation Damage Score |
0.2160 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.6%
- 20x: 98.8%
|
| Validation Efficiency |
96% (55/57) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 55 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4933405L10Rik |
A |
T |
8: 106,436,554 (GRCm39) |
H241L |
possibly damaging |
Het |
| Acap1 |
T |
C |
11: 69,777,893 (GRCm39) |
D115G |
probably damaging |
Het |
| Acvr2b |
T |
C |
9: 119,262,469 (GRCm39) |
V510A |
possibly damaging |
Het |
| Acyp2 |
C |
T |
11: 30,456,354 (GRCm39) |
E98K |
possibly damaging |
Het |
| Agr2 |
A |
T |
12: 36,045,591 (GRCm39) |
K26* |
probably null |
Het |
| Aox4 |
T |
A |
1: 58,256,685 (GRCm39) |
I69N |
probably damaging |
Het |
| Asb4 |
G |
A |
6: 5,390,699 (GRCm39) |
G31R |
probably benign |
Het |
| Atp6v1c2 |
C |
A |
12: 17,351,187 (GRCm39) |
E105* |
probably null |
Het |
| Bend6 |
A |
G |
1: 33,917,509 (GRCm39) |
Y44H |
probably damaging |
Het |
| Bltp3b |
T |
G |
10: 89,641,195 (GRCm39) |
S789A |
probably benign |
Het |
| Btn2a2 |
C |
T |
13: 23,672,015 (GRCm39) |
V25M |
possibly damaging |
Het |
| Cab39l |
T |
A |
14: 59,737,039 (GRCm39) |
L53Q |
probably damaging |
Het |
| Cc2d1b |
C |
T |
4: 108,490,422 (GRCm39) |
R825W |
probably damaging |
Het |
| Cdc14b |
C |
T |
13: 64,353,338 (GRCm39) |
|
probably benign |
Het |
| Cenpu |
A |
G |
8: 47,015,615 (GRCm39) |
R177G |
probably benign |
Het |
| Chit1 |
C |
A |
1: 134,074,381 (GRCm39) |
Y229* |
probably null |
Het |
| Ctdspl2 |
A |
G |
2: 121,809,373 (GRCm39) |
|
probably null |
Het |
| Ctsr |
A |
T |
13: 61,308,345 (GRCm39) |
H266Q |
probably benign |
Het |
| Dynlt5 |
A |
G |
4: 102,849,766 (GRCm39) |
E63G |
possibly damaging |
Het |
| Efcab3 |
T |
G |
11: 104,746,386 (GRCm39) |
I2279S |
probably benign |
Het |
| Extl3 |
T |
A |
14: 65,313,584 (GRCm39) |
M533L |
probably benign |
Het |
| Fam162b |
C |
A |
10: 51,463,506 (GRCm39) |
|
probably null |
Het |
| Fbxo28 |
T |
C |
1: 182,157,454 (GRCm39) |
K121R |
probably damaging |
Het |
| Fsip2 |
A |
C |
2: 82,820,227 (GRCm39) |
E5320A |
possibly damaging |
Het |
| Galc |
A |
T |
12: 98,225,421 (GRCm39) |
D56E |
probably damaging |
Het |
| Gm5468 |
A |
G |
15: 25,414,481 (GRCm39) |
|
probably benign |
Het |
| Hk1 |
T |
A |
10: 62,135,038 (GRCm39) |
H24L |
probably damaging |
Het |
| Igkv5-43 |
A |
G |
6: 69,752,965 (GRCm39) |
V39A |
possibly damaging |
Het |
| Lemd2 |
G |
A |
17: 27,411,976 (GRCm39) |
Q439* |
probably null |
Het |
| Lgi1 |
A |
G |
19: 38,294,257 (GRCm39) |
N295S |
probably benign |
Het |
| Macc1 |
T |
G |
12: 119,409,785 (GRCm39) |
S184R |
probably damaging |
Het |
| Msmo1 |
A |
G |
8: 65,180,918 (GRCm39) |
|
probably benign |
Het |
| Muc5b |
C |
A |
7: 141,405,333 (GRCm39) |
R914S |
unknown |
Het |
| Or10d1 |
G |
A |
9: 39,483,776 (GRCm39) |
P260S |
possibly damaging |
Het |
| Or1e16 |
G |
A |
11: 73,286,299 (GRCm39) |
A183V |
probably benign |
Het |
| Or1e17 |
G |
A |
11: 73,831,635 (GRCm39) |
A188T |
possibly damaging |
Het |
| Or4k2 |
C |
A |
14: 50,424,135 (GRCm39) |
D180Y |
probably damaging |
Het |
| Or5b110-ps1 |
A |
G |
19: 13,260,290 (GRCm39) |
I44T |
probably benign |
Het |
| Plekha5 |
T |
C |
6: 140,525,179 (GRCm39) |
S14P |
probably benign |
Het |
| Pus10 |
A |
G |
11: 23,622,638 (GRCm39) |
K86R |
probably benign |
Het |
| Rab37 |
T |
C |
11: 115,051,132 (GRCm39) |
V147A |
probably benign |
Het |
| Sin3a |
T |
A |
9: 57,011,213 (GRCm39) |
I490N |
probably damaging |
Het |
| Slc27a4 |
A |
G |
2: 29,695,762 (GRCm39) |
D99G |
probably benign |
Het |
| Slc43a2 |
C |
T |
11: 75,459,206 (GRCm39) |
R413* |
probably null |
Het |
| Syna |
G |
T |
5: 134,588,466 (GRCm39) |
T161N |
probably benign |
Het |
| T |
A |
G |
17: 8,655,996 (GRCm39) |
D86G |
possibly damaging |
Het |
| Tanc1 |
G |
A |
2: 59,674,366 (GRCm39) |
E1817K |
possibly damaging |
Het |
| Tap2 |
C |
A |
17: 34,433,384 (GRCm39) |
Q516K |
possibly damaging |
Het |
| Tcaf1 |
A |
T |
6: 42,653,741 (GRCm39) |
D717E |
probably damaging |
Het |
| Tcf20 |
G |
T |
15: 82,736,187 (GRCm39) |
Q1755K |
possibly damaging |
Het |
| Top2b |
T |
G |
14: 16,409,189 (GRCm38) |
I777M |
probably damaging |
Het |
| Trpm7 |
G |
A |
2: 126,667,559 (GRCm39) |
P811S |
possibly damaging |
Het |
| Vmn2r59 |
A |
G |
7: 41,661,679 (GRCm39) |
V712A |
probably benign |
Het |
| Vwc2l |
T |
A |
1: 70,768,180 (GRCm39) |
D34E |
probably damaging |
Het |
| Wdr35 |
A |
G |
12: 9,077,632 (GRCm39) |
K1091E |
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 |
|
|
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 |
|
|
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'- TGGGCTCATCAGTTTATGGC -3'
(R):5'- GACACCGGTGAATCTACCAGAC -3'
Sequencing Primer
(F):5'- ATCTGGCTAGAGGTCGGAGC -3'
(R):5'- GGTGAATCTACCAGACAGCCC -3'
|
| Posted On |
2018-02-27 |
Incidental Mutation