Incidental Mutation 'R8008:Crybg2'
| ID |
616736 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Crybg2
|
| Ensembl Gene |
ENSMUSG00000012123 |
| Gene Name |
crystallin beta-gamma domain containing 2 |
| Synonyms |
Aim1l |
| MMRRC Submission |
046048-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.876)
|
| Stock # |
R8008 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
4 |
| Chromosomal Location |
133788126-133819815 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 133818415 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Asparagine to Lysine
at position 1390
(N1390K)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000114099
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000000696]
[ENSMUST00000121391]
[ENSMUST00000149956]
[ENSMUST00000227683]
|
| AlphaFold |
A0A2I3BQG2 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000000696
|
| SMART Domains |
Protein: ENSMUSP00000000696
Gene: ENSMUSG00000000682
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
20 |
N/A |
INTRINSIC |
|
Pfam:CD52
|
23 |
74 |
1.4e-24 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000121391
AA Change: N1390K
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000114099
Gene: ENSMUSG00000012123
AA Change: N1390K
| 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: 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 damaging
Transcript: ENSMUST00000227683
AA Change: N1699K
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.7%
- 20x: 99.1%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 59 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2210408I21Rik |
A |
T |
13: 77,429,234 (GRCm39) |
I774F |
probably benign |
Het |
| Alpi |
A |
G |
1: 87,026,384 (GRCm39) |
S536P |
unknown |
Het |
| Ankar |
A |
G |
1: 72,705,643 (GRCm39) |
V789A |
possibly damaging |
Het |
| Atp5f1b |
C |
A |
10: 127,919,277 (GRCm39) |
Q28K |
unknown |
Het |
| Brpf1 |
T |
C |
6: 113,296,050 (GRCm39) |
V781A |
probably benign |
Het |
| Cd177 |
G |
A |
7: 24,451,774 (GRCm39) |
S414L |
not run |
Het |
| Cimip3 |
T |
A |
17: 47,747,661 (GRCm39) |
E28V |
probably damaging |
Het |
| Clca3b |
T |
A |
3: 144,550,370 (GRCm39) |
T192S |
probably benign |
Het |
| Coro2a |
A |
T |
4: 46,551,349 (GRCm39) |
S119T |
probably damaging |
Het |
| Cpped1 |
T |
C |
16: 11,646,260 (GRCm39) |
N164S |
probably damaging |
Het |
| Epn2 |
C |
T |
11: 61,437,492 (GRCm39) |
A27T |
probably damaging |
Het |
| Esp34 |
T |
C |
17: 38,870,490 (GRCm39) |
F128S |
possibly damaging |
Het |
| Evpl |
T |
A |
11: 116,121,298 (GRCm39) |
N410Y |
probably null |
Het |
| Flnb |
A |
G |
14: 7,892,155 (GRCm38) |
Y608C |
probably damaging |
Het |
| Fpr3 |
T |
C |
17: 18,191,715 (GRCm39) |
S329P |
probably benign |
Het |
| Frem2 |
T |
A |
3: 53,560,331 (GRCm39) |
N1392I |
probably damaging |
Het |
| Garin2 |
T |
A |
12: 78,761,817 (GRCm39) |
D160E |
probably benign |
Het |
| Gpi1 |
G |
T |
7: 33,917,726 (GRCm39) |
N249K |
probably damaging |
Het |
| Gpr87 |
T |
C |
3: 59,087,466 (GRCm39) |
N13S |
probably benign |
Het |
| Gys2 |
T |
C |
6: 142,400,243 (GRCm39) |
T323A |
probably damaging |
Het |
| Iqgap3 |
T |
C |
3: 88,016,770 (GRCm39) |
I1084T |
probably damaging |
Het |
| Lrfn4 |
C |
G |
19: 4,663,565 (GRCm39) |
G323A |
probably benign |
Het |
| Lrrc4c |
A |
T |
2: 97,460,594 (GRCm39) |
S407C |
possibly damaging |
Het |
| Map3k20 |
A |
T |
2: 72,268,613 (GRCm39) |
Q540L |
probably benign |
Het |
| Myom1 |
T |
C |
17: 71,407,057 (GRCm39) |
V1158A |
probably benign |
Het |
| Ncor2 |
T |
C |
5: 125,144,983 (GRCm39) |
D378G |
unknown |
Het |
| Nhsl1 |
T |
A |
10: 18,284,186 (GRCm39) |
D42E |
probably damaging |
Het |
| Nr0b2 |
C |
A |
4: 133,283,339 (GRCm39) |
A192E |
probably benign |
Het |
| Nt5c1b |
A |
G |
12: 10,425,000 (GRCm39) |
D182G |
possibly damaging |
Het |
| Or12d14-ps1 |
T |
C |
17: 37,673,265 (GRCm39) |
S86P |
probably damaging |
Het |
| Or4c115 |
A |
T |
2: 88,928,059 (GRCm39) |
C71S |
probably benign |
Het |
| Or5b119 |
T |
C |
19: 13,457,170 (GRCm39) |
T131A |
probably benign |
Het |
| Or5k15 |
T |
C |
16: 58,710,251 (GRCm39) |
T111A |
probably benign |
Het |
| Or8b12 |
A |
T |
9: 37,658,089 (GRCm39) |
I220F |
probably damaging |
Het |
| Pepd |
A |
G |
7: 34,721,126 (GRCm39) |
N250S |
probably benign |
Het |
| Plscr4 |
C |
T |
9: 92,372,843 (GRCm39) |
R322* |
probably null |
Het |
| Pmp22 |
C |
T |
11: 63,049,233 (GRCm39) |
R159C |
probably damaging |
Het |
| Pou3f1 |
C |
T |
4: 124,552,764 (GRCm39) |
A422V |
unknown |
Het |
| Rab11fip3 |
A |
G |
17: 26,286,956 (GRCm39) |
L399P |
probably damaging |
Het |
| Rragc |
A |
G |
4: 123,829,340 (GRCm39) |
D352G |
probably damaging |
Het |
| Ryr2 |
A |
G |
13: 11,671,980 (GRCm39) |
V3420A |
probably benign |
Het |
| Sez6 |
T |
A |
11: 77,864,082 (GRCm39) |
Y521* |
probably null |
Het |
| Smc4 |
T |
C |
3: 68,914,645 (GRCm39) |
V86A |
probably damaging |
Het |
| Stap2 |
T |
A |
17: 56,304,790 (GRCm39) |
M331L |
probably benign |
Het |
| Syt8 |
G |
A |
7: 141,992,259 (GRCm39) |
R89H |
probably benign |
Het |
| Tcof1 |
G |
C |
18: 60,962,123 (GRCm39) |
A702G |
possibly damaging |
Het |
| Trim21 |
G |
T |
7: 102,209,183 (GRCm39) |
T280K |
probably benign |
Het |
| Trim36 |
C |
A |
18: 46,305,556 (GRCm39) |
V476F |
probably benign |
Het |
| Troap |
G |
T |
15: 98,973,511 (GRCm39) |
R56L |
probably benign |
Het |
| Ttn |
A |
T |
2: 76,667,130 (GRCm39) |
I11492K |
unknown |
Het |
| Tuft1 |
T |
C |
3: 94,521,440 (GRCm39) |
T390A |
probably damaging |
Het |
| Ucp1 |
T |
C |
8: 84,020,640 (GRCm39) |
I150T |
probably benign |
Het |
| Usp17lb |
A |
T |
7: 104,490,481 (GRCm39) |
C149S |
possibly damaging |
Het |
| Vmn1r159 |
A |
T |
7: 22,542,665 (GRCm39) |
N122K |
possibly damaging |
Het |
| Vmn1r237 |
T |
C |
17: 21,534,456 (GRCm39) |
C60R |
probably damaging |
Het |
| Wdr12 |
A |
T |
1: 60,128,494 (GRCm39) |
Y85* |
probably null |
Het |
| Wdr3 |
T |
C |
3: 100,062,252 (GRCm39) |
D221G |
probably benign |
Het |
| Wdr97 |
G |
A |
15: 76,244,832 (GRCm39) |
E1125K |
|
Het |
| Zan |
T |
C |
5: 137,403,624 (GRCm39) |
E3974G |
unknown |
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 |
|
|
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 |
|
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'- AGGGTCCCTTAACACAGGTG -3'
(R):5'- GTTGGCAAACCTGGTCTCAG -3'
Sequencing Primer
(F):5'- TCCCTTAACACAGGTGCAGGTATC -3'
(R):5'- TGGTCTCAGCAAAACAAGCTCTG -3'
|
| Posted On |
2020-01-23 |
Incidental Mutation