Incidental Mutation 'R6891:Crybg2'
| ID |
537201 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Crybg2
|
| Ensembl Gene |
ENSMUSG00000012123 |
| Gene Name |
crystallin beta-gamma domain containing 2 |
| Synonyms |
Aim1l |
| MMRRC Submission |
044985-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.876)
|
| Stock # |
R6891 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
4 |
| Chromosomal Location |
133788126-133819815 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 133809148 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Glycine
at position 187
(S187G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000123349
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000121391]
[ENSMUST00000149956]
[ENSMUST00000227683]
|
| AlphaFold |
A0A2I3BQG2 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000121391
AA Change: S1149G
PolyPhen 2
Score 0.028 (Sensitivity: 0.95; Specificity: 0.81)
|
| SMART Domains |
Protein: ENSMUSP00000114099
Gene: ENSMUSG00000012123
AA Change: S1149G
| 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
AA Change: S187G
PolyPhen 2
Score 0.321 (Sensitivity: 0.90; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000123349
Gene: ENSMUSG00000012123
AA Change: S187G
| 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: ENSMUST00000227683
AA Change: S1458G
PolyPhen 2
Score 0.164 (Sensitivity: 0.92; Specificity: 0.87)
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.4%
- 20x: 98.0%
|
| Validation Efficiency |
97% (72/74) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 72 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Actl11 |
C |
T |
9: 107,806,346 (GRCm39) |
A223V |
probably benign |
Het |
| Agbl5 |
G |
T |
5: 31,052,522 (GRCm39) |
R61L |
probably damaging |
Het |
| Agmat |
A |
T |
4: 141,483,192 (GRCm39) |
T209S |
probably benign |
Het |
| Ankrd34a |
G |
A |
3: 96,505,335 (GRCm39) |
V180I |
probably benign |
Het |
| Anks1 |
C |
T |
17: 28,276,398 (GRCm39) |
T1047M |
probably damaging |
Het |
| Arhgap21 |
T |
A |
2: 20,855,142 (GRCm39) |
I1407F |
probably damaging |
Het |
| Armc1 |
C |
A |
3: 19,189,205 (GRCm39) |
C183F |
probably damaging |
Het |
| Atg13 |
A |
G |
2: 91,516,136 (GRCm39) |
M196T |
probably benign |
Het |
| AU040320 |
G |
T |
4: 126,740,231 (GRCm39) |
S864I |
possibly damaging |
Het |
| Btn2a2 |
T |
C |
13: 23,667,014 (GRCm39) |
D197G |
probably benign |
Het |
| Carmil1 |
A |
G |
13: 24,325,706 (GRCm39) |
I208T |
probably benign |
Het |
| Cbs |
T |
A |
17: 31,841,431 (GRCm39) |
R263S |
probably damaging |
Het |
| Ccdc7a |
C |
A |
8: 129,753,119 (GRCm39) |
R204L |
probably damaging |
Het |
| Cdhr1 |
A |
T |
14: 36,819,334 (GRCm39) |
|
probably null |
Het |
| Cers4 |
G |
A |
8: 4,573,731 (GRCm39) |
R378Q |
probably damaging |
Het |
| Chst1 |
T |
G |
2: 92,444,088 (GRCm39) |
L187V |
probably benign |
Het |
| Clec4e |
A |
T |
6: 123,260,565 (GRCm39) |
N164K |
probably damaging |
Het |
| Cln3 |
T |
A |
7: 126,181,975 (GRCm39) |
D29V |
possibly damaging |
Het |
| Ddx1 |
A |
T |
12: 13,286,096 (GRCm39) |
N285K |
probably benign |
Het |
| Dmxl2 |
A |
G |
9: 54,387,664 (GRCm39) |
I58T |
probably damaging |
Het |
| Dock4 |
A |
G |
12: 40,829,135 (GRCm39) |
Y1007C |
probably damaging |
Het |
| Eral1 |
C |
T |
11: 77,966,559 (GRCm39) |
V234I |
possibly damaging |
Het |
| Fads2b |
C |
A |
2: 85,319,149 (GRCm39) |
M384I |
possibly damaging |
Het |
| Fads2b |
T |
G |
2: 85,319,157 (GRCm39) |
T382P |
probably damaging |
Het |
| Fam161b |
A |
G |
12: 84,401,554 (GRCm39) |
F400S |
probably damaging |
Het |
| Fmnl3 |
T |
C |
15: 99,223,754 (GRCm39) |
D314G |
probably damaging |
Het |
| Foxred2 |
A |
T |
15: 77,839,909 (GRCm39) |
L127Q |
probably damaging |
Het |
| Gjd2 |
G |
A |
2: 113,843,575 (GRCm39) |
A14V |
possibly damaging |
Het |
| Gon4l |
A |
G |
3: 88,766,173 (GRCm39) |
|
probably null |
Het |
| Gpr151 |
T |
A |
18: 42,711,985 (GRCm39) |
D231V |
probably benign |
Het |
| Gzf1 |
A |
T |
2: 148,526,689 (GRCm39) |
K387* |
probably null |
Het |
| Hfm1 |
T |
A |
5: 107,065,240 (GRCm39) |
K146N |
possibly damaging |
Het |
| Hgf |
G |
A |
5: 16,809,920 (GRCm39) |
|
probably null |
Het |
| Isoc2b |
A |
G |
7: 4,854,487 (GRCm39) |
S15P |
probably damaging |
Het |
| Itga5 |
A |
G |
15: 103,265,970 (GRCm39) |
S126P |
probably damaging |
Het |
| Kat6b |
A |
G |
14: 21,719,104 (GRCm39) |
D1152G |
probably benign |
Het |
| Kcna4 |
C |
T |
2: 107,126,652 (GRCm39) |
S462F |
probably damaging |
Het |
| Kif24 |
A |
T |
4: 41,394,168 (GRCm39) |
C902S |
probably benign |
Het |
| Lama2 |
A |
T |
10: 27,204,068 (GRCm39) |
C523* |
probably null |
Het |
| Lama2 |
G |
C |
10: 27,204,078 (GRCm39) |
S520* |
probably null |
Het |
| Ltf |
T |
C |
9: 110,854,181 (GRCm39) |
V332A |
probably benign |
Het |
| Mapkap1 |
T |
C |
2: 34,453,153 (GRCm39) |
F349L |
probably damaging |
Het |
| Mdm1 |
A |
G |
10: 117,983,937 (GRCm39) |
N188D |
probably benign |
Het |
| Mfn1 |
T |
C |
3: 32,631,252 (GRCm39) |
S730P |
possibly damaging |
Het |
| Mrgprd |
T |
A |
7: 144,876,087 (GRCm39) |
D319E |
probably benign |
Het |
| Mrps9 |
C |
A |
1: 42,944,573 (GRCm39) |
L364I |
probably damaging |
Het |
| Myo1h |
C |
T |
5: 114,487,673 (GRCm39) |
R626C |
probably damaging |
Het |
| Nme3 |
T |
C |
17: 25,115,829 (GRCm39) |
S61P |
probably benign |
Het |
| Or2g1 |
A |
G |
17: 38,106,395 (GRCm39) |
Q20R |
probably benign |
Het |
| Or52e18 |
A |
G |
7: 104,609,192 (GRCm39) |
I249T |
probably damaging |
Het |
| Pald1 |
A |
G |
10: 61,184,311 (GRCm39) |
|
probably null |
Het |
| Papola |
A |
T |
12: 105,775,950 (GRCm39) |
|
probably benign |
Het |
| Peg10 |
GAT |
GATCAT |
6: 4,756,449 (GRCm39) |
|
probably benign |
Het |
| Plch1 |
T |
C |
3: 63,605,504 (GRCm39) |
T1458A |
probably benign |
Het |
| Polr3e |
A |
G |
7: 120,543,873 (GRCm39) |
Q659R |
probably damaging |
Het |
| Pramel38 |
C |
A |
5: 94,365,978 (GRCm39) |
P32Q |
probably damaging |
Het |
| Shoc2 |
T |
C |
19: 53,976,548 (GRCm39) |
V146A |
probably benign |
Het |
| Slc15a1 |
T |
C |
14: 121,713,442 (GRCm39) |
T362A |
probably benign |
Het |
| Smpd3 |
A |
G |
8: 106,991,300 (GRCm39) |
Y418H |
probably damaging |
Het |
| Sorcs1 |
A |
T |
19: 50,213,557 (GRCm39) |
C723* |
probably null |
Het |
| Supt7l |
T |
A |
5: 31,680,365 (GRCm39) |
N16Y |
probably damaging |
Het |
| Syngr2 |
T |
C |
11: 117,703,499 (GRCm39) |
V105A |
probably damaging |
Het |
| Thrb |
T |
A |
14: 17,981,899 (GRCm38) |
V8E |
probably benign |
Het |
| Tlx1 |
A |
T |
19: 45,139,757 (GRCm39) |
I135F |
probably damaging |
Het |
| Tnfaip3 |
A |
G |
10: 18,887,417 (GRCm39) |
I36T |
probably damaging |
Het |
| Troap |
A |
G |
15: 98,980,569 (GRCm39) |
Y583C |
possibly damaging |
Het |
| Usp17lb |
T |
C |
7: 104,490,307 (GRCm39) |
K207E |
probably benign |
Het |
| Vmn2r10 |
C |
T |
5: 109,149,845 (GRCm39) |
V400M |
probably damaging |
Het |
| Wdr49 |
A |
T |
3: 75,240,590 (GRCm39) |
|
probably null |
Het |
| Wdr64 |
G |
T |
1: 175,533,634 (GRCm39) |
W90L |
probably damaging |
Het |
| Yme1l1 |
A |
G |
2: 23,085,401 (GRCm39) |
E662G |
probably damaging |
Het |
| Zfp334 |
C |
T |
2: 165,224,644 (GRCm39) |
V68I |
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 |
|
|
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 |
|
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'- GGCTTTTCCCCAGCATATGC -3'
(R):5'- TCTCCAGGATGAACTGTTCGC -3'
Sequencing Primer
(F):5'- TCACACCTAATCCCGGGG -3'
(R):5'- ATGAACTGTTCGCCGGAG -3'
|
| Posted On |
2018-10-18 |
Incidental Mutation