Incidental Mutation 'R2229:Crybg2'
| ID |
239589 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Crybg2
|
| Ensembl Gene |
ENSMUSG00000012123 |
| Gene Name |
crystallin beta-gamma domain containing 2 |
| Synonyms |
Aim1l |
| MMRRC Submission |
040230-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.862)
|
| Stock # |
R2229 (G1)
|
| Quality Score |
114 |
|
Status
|
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: 99.2%
- 3x: 98.6%
- 10x: 97.3%
- 20x: 95.1%
|
| Validation Efficiency |
99% (78/79) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 74 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adam24 |
A |
T |
8: 41,133,404 (GRCm39) |
I291L |
probably benign |
Het |
| Adcy8 |
C |
A |
15: 64,694,056 (GRCm39) |
R407L |
possibly damaging |
Het |
| Adgb |
A |
T |
10: 10,311,795 (GRCm39) |
V212E |
probably damaging |
Het |
| Adgrg7 |
C |
T |
16: 56,572,766 (GRCm39) |
S350N |
probably benign |
Het |
| Agbl1 |
A |
G |
7: 76,083,126 (GRCm39) |
T448A |
probably benign |
Het |
| Aldh1l1 |
C |
G |
6: 90,560,168 (GRCm39) |
T605R |
probably damaging |
Het |
| Arfip1 |
A |
T |
3: 84,455,280 (GRCm39) |
N18K |
probably damaging |
Het |
| Atp6v1b2 |
C |
A |
8: 69,555,411 (GRCm39) |
|
probably null |
Het |
| Banp |
G |
A |
8: 122,705,424 (GRCm39) |
S98N |
probably damaging |
Het |
| Btnl9 |
T |
C |
11: 49,059,945 (GRCm39) |
D601G |
probably damaging |
Het |
| C9 |
T |
C |
15: 6,474,901 (GRCm39) |
I20T |
possibly damaging |
Het |
| Cacna1b |
A |
G |
2: 24,575,816 (GRCm39) |
V744A |
probably damaging |
Het |
| Catsper3 |
A |
G |
13: 55,955,867 (GRCm39) |
E311G |
probably damaging |
Het |
| Ccdc180 |
G |
T |
4: 45,948,856 (GRCm39) |
|
probably null |
Het |
| Cdc5l |
A |
G |
17: 45,718,772 (GRCm39) |
Y615H |
probably benign |
Het |
| Eml4 |
C |
T |
17: 83,758,485 (GRCm39) |
P502S |
probably benign |
Het |
| Fsip1 |
T |
C |
2: 118,052,925 (GRCm39) |
E367G |
probably benign |
Het |
| Gja3 |
T |
C |
14: 57,274,171 (GRCm39) |
D67G |
probably damaging |
Het |
| Gm4894 |
T |
C |
9: 49,185,490 (GRCm39) |
|
probably benign |
Het |
| Gm7853 |
A |
G |
14: 35,811,484 (GRCm39) |
|
noncoding transcript |
Het |
| Gmps |
T |
G |
3: 63,921,684 (GRCm39) |
Y562* |
probably null |
Het |
| Golga2 |
C |
A |
2: 32,196,477 (GRCm39) |
P976T |
probably benign |
Het |
| Gpr182 |
T |
A |
10: 127,586,010 (GRCm39) |
I314F |
possibly damaging |
Het |
| Gprc6a |
A |
G |
10: 51,502,891 (GRCm39) |
V324A |
possibly damaging |
Het |
| Gykl1 |
A |
G |
18: 52,828,339 (GRCm39) |
T516A |
probably benign |
Het |
| H2ac21 |
T |
C |
3: 96,127,422 (GRCm39) |
L64P |
possibly damaging |
Het |
| Ifit1bl2 |
G |
T |
19: 34,596,630 (GRCm39) |
L329M |
possibly damaging |
Het |
| Igsf9b |
T |
C |
9: 27,244,792 (GRCm39) |
S920P |
probably damaging |
Het |
| Kif3c |
T |
A |
12: 3,416,671 (GRCm39) |
S231T |
probably benign |
Het |
| Kpna7 |
A |
T |
5: 144,926,507 (GRCm39) |
Y482N |
probably damaging |
Het |
| Lmnb2 |
T |
C |
10: 80,740,226 (GRCm39) |
|
probably benign |
Het |
| Lrrc69 |
T |
C |
4: 14,773,694 (GRCm39) |
S121G |
probably benign |
Het |
| Mppe1 |
A |
G |
18: 67,361,082 (GRCm39) |
|
probably null |
Het |
| Muc5b |
T |
A |
7: 141,415,381 (GRCm39) |
C2776S |
possibly damaging |
Het |
| Myh8 |
T |
G |
11: 67,199,174 (GRCm39) |
N1893K |
probably damaging |
Het |
| Myo7a |
T |
C |
7: 97,704,117 (GRCm39) |
T1932A |
probably benign |
Het |
| Nbn |
A |
G |
4: 15,970,904 (GRCm39) |
T296A |
probably benign |
Het |
| Nckap1l |
T |
C |
15: 103,364,361 (GRCm39) |
|
probably null |
Het |
| Nek5 |
A |
T |
8: 22,603,648 (GRCm39) |
N151K |
possibly damaging |
Het |
| Nup93 |
C |
T |
8: 95,030,819 (GRCm39) |
T305I |
probably benign |
Het |
| Oca2 |
T |
A |
7: 56,006,903 (GRCm39) |
H663Q |
probably benign |
Het |
| Optn |
T |
A |
2: 5,028,928 (GRCm39) |
H525L |
probably damaging |
Het |
| Pdzph1 |
A |
G |
17: 59,239,407 (GRCm39) |
|
probably benign |
Het |
| Pikfyve |
A |
G |
1: 65,307,014 (GRCm39) |
K1801E |
probably damaging |
Het |
| Pkd2l2 |
G |
A |
18: 34,563,382 (GRCm39) |
V478M |
probably damaging |
Het |
| Pmepa1 |
G |
A |
2: 173,069,926 (GRCm39) |
R210W |
probably damaging |
Het |
| Ppp1r3c |
C |
A |
19: 36,711,098 (GRCm39) |
R224L |
probably benign |
Het |
| Prpf19 |
A |
G |
19: 10,874,962 (GRCm39) |
T39A |
probably benign |
Het |
| Pwwp2b |
T |
C |
7: 138,835,104 (GRCm39) |
C182R |
probably damaging |
Het |
| Rcan3 |
T |
C |
4: 135,152,688 (GRCm39) |
D11G |
probably benign |
Het |
| Rgsl1 |
C |
A |
1: 153,698,104 (GRCm39) |
W482L |
possibly damaging |
Het |
| Sfxn4 |
C |
T |
19: 60,839,458 (GRCm39) |
G200E |
probably damaging |
Het |
| Slc4a8 |
T |
C |
15: 100,707,180 (GRCm39) |
I848T |
probably damaging |
Het |
| Slc7a13 |
T |
C |
4: 19,839,399 (GRCm39) |
V334A |
probably benign |
Het |
| Smarcc2 |
A |
G |
10: 128,324,210 (GRCm39) |
|
probably benign |
Het |
| Spata18 |
A |
T |
5: 73,824,244 (GRCm39) |
I156L |
possibly damaging |
Het |
| Spats2 |
T |
C |
15: 99,072,334 (GRCm39) |
|
probably null |
Het |
| Tas2r104 |
G |
A |
6: 131,662,095 (GRCm39) |
H205Y |
probably damaging |
Het |
| Tcof1 |
A |
G |
18: 60,965,249 (GRCm39) |
|
probably benign |
Het |
| Tex15 |
C |
A |
8: 34,061,265 (GRCm39) |
H232N |
probably benign |
Het |
| Tg |
A |
T |
15: 66,545,860 (GRCm39) |
Q194L |
probably damaging |
Het |
| Tnfrsf22 |
C |
T |
7: 143,198,513 (GRCm39) |
|
probably null |
Het |
| Trim25 |
T |
A |
11: 88,907,447 (GRCm39) |
V602E |
probably damaging |
Het |
| Ttll9 |
A |
G |
2: 152,824,983 (GRCm39) |
E54G |
probably damaging |
Het |
| Ttn |
T |
C |
2: 76,559,668 (GRCm39) |
T29578A |
probably damaging |
Het |
| Tubgcp5 |
A |
G |
7: 55,480,629 (GRCm39) |
Q960R |
probably damaging |
Het |
| Ugcg |
C |
T |
4: 59,207,798 (GRCm39) |
P46S |
probably benign |
Het |
| Usp13 |
A |
G |
3: 32,971,700 (GRCm39) |
I727V |
probably benign |
Het |
| Vmn2r67 |
T |
A |
7: 84,801,250 (GRCm39) |
I229F |
probably benign |
Het |
| Vmn2r92 |
A |
C |
17: 18,387,654 (GRCm39) |
I220L |
probably benign |
Het |
| Wnk4 |
T |
A |
11: 101,166,467 (GRCm39) |
|
probably benign |
Het |
| Wwp1 |
A |
T |
4: 19,641,745 (GRCm39) |
Y437N |
probably damaging |
Het |
| Zdhhc5 |
A |
G |
2: 84,520,557 (GRCm39) |
I540T |
probably damaging |
Het |
| Zfp729b |
T |
C |
13: 67,743,384 (GRCm39) |
I60M |
probably damaging |
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 |
|
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'- GATACTCTGAGGAGCATGGAGC -3'
(R):5'- TGTTGGCTGGCACCAGATTG -3'
Sequencing Primer
(F):5'- ATGGAGCCCCCTGAGATC -3'
(R):5'- AAGAGAAGGCTGCCTCCCAG -3'
|
| Posted On |
2014-10-15 |
Incidental Mutation