Incidental Mutation 'R6046:Crybg2'
| ID |
483276 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Crybg2
|
| Ensembl Gene |
ENSMUSG00000012123 |
| Gene Name |
crystallin beta-gamma domain containing 2 |
| Synonyms |
Aim1l |
| MMRRC Submission |
044214-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.862)
|
| Stock # |
R6046 (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 T
at 133819388 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Phenylalanine
at position 1753
(I1753F)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000154159
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000000696]
[ENSMUST00000121391]
[ENSMUST00000227683]
[ENSMUST00000149956]
|
| 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: I1444F
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000114099
Gene: ENSMUSG00000012123
AA Change: I1444F
| 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: ENSMUST00000137445
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000140125
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000143295
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000145122
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000146102
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000153392
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000149080
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000227683
AA Change: I1753F
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| 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 |
|
| Meta Mutation Damage Score |
0.1570 |
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.5%
- 10x: 97.7%
- 20x: 92.8%
|
| Validation Efficiency |
100% (78/78) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 74 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abtb3 |
T |
C |
10: 85,223,947 (GRCm39) |
V252A |
unknown |
Het |
| Actn4 |
T |
C |
7: 28,604,044 (GRCm39) |
I406V |
probably benign |
Het |
| Acyp2 |
C |
T |
11: 30,456,354 (GRCm39) |
E98K |
possibly damaging |
Het |
| Ank1 |
T |
A |
8: 23,606,114 (GRCm39) |
F1124I |
probably damaging |
Het |
| Arhgap44 |
CTGCT |
CTGCTTGCT |
11: 64,922,910 (GRCm39) |
|
probably null |
Het |
| Atp9a |
C |
A |
2: 168,476,790 (GRCm39) |
V1000L |
probably benign |
Het |
| Bnip3 |
A |
G |
7: 138,511,033 (GRCm39) |
|
probably benign |
Het |
| Btnl6 |
T |
A |
17: 34,727,371 (GRCm39) |
R386S |
probably damaging |
Het |
| Calcrl |
A |
G |
2: 84,205,658 (GRCm39) |
V11A |
probably benign |
Het |
| Cc2d1a |
G |
T |
8: 84,863,571 (GRCm39) |
A597D |
possibly damaging |
Het |
| Celsr3 |
A |
G |
9: 108,714,350 (GRCm39) |
T1960A |
probably benign |
Het |
| Cfb |
T |
A |
17: 35,081,078 (GRCm39) |
|
probably null |
Het |
| Chd8 |
A |
G |
14: 52,458,528 (GRCm39) |
I860T |
possibly damaging |
Het |
| Col28a1 |
A |
G |
6: 8,168,102 (GRCm39) |
|
probably null |
Het |
| Crhr2 |
T |
A |
6: 55,068,277 (GRCm39) |
T428S |
probably damaging |
Het |
| Ctsq |
A |
T |
13: 61,186,955 (GRCm39) |
V46E |
probably benign |
Het |
| Cxcr1 |
T |
C |
1: 74,231,440 (GRCm39) |
E194G |
probably damaging |
Het |
| Dop1a |
A |
T |
9: 86,397,396 (GRCm39) |
H900L |
probably damaging |
Het |
| Dpyd |
T |
A |
3: 119,225,224 (GRCm39) |
M999K |
probably benign |
Het |
| Gbp3 |
A |
C |
3: 142,273,560 (GRCm39) |
D369A |
possibly damaging |
Het |
| Glmp |
A |
G |
3: 88,232,495 (GRCm39) |
E36G |
probably damaging |
Het |
| Gm10113 |
T |
C |
13: 46,330,919 (GRCm39) |
|
noncoding transcript |
Het |
| Gm6486 |
T |
A |
5: 3,120,846 (GRCm39) |
|
noncoding transcript |
Het |
| Gm973 |
T |
G |
1: 59,671,509 (GRCm39) |
L891R |
unknown |
Het |
| Heatr3 |
C |
T |
8: 88,866,582 (GRCm39) |
T8M |
probably damaging |
Het |
| Herc1 |
A |
G |
9: 66,352,831 (GRCm39) |
M2106V |
probably damaging |
Het |
| Hfm1 |
A |
T |
5: 107,046,509 (GRCm39) |
|
probably null |
Het |
| Hspa14 |
A |
G |
2: 3,490,801 (GRCm39) |
V462A |
possibly damaging |
Het |
| Hspa5 |
C |
A |
2: 34,665,761 (GRCm39) |
T535K |
possibly damaging |
Het |
| Ift140 |
A |
G |
17: 25,274,563 (GRCm39) |
D745G |
probably benign |
Het |
| Ift27 |
A |
T |
15: 78,057,981 (GRCm39) |
C8S |
possibly damaging |
Het |
| Irak1bp1 |
G |
A |
9: 82,728,616 (GRCm39) |
W182* |
probably null |
Het |
| Itga3 |
A |
G |
11: 94,953,541 (GRCm39) |
I236T |
probably benign |
Het |
| Kctd15 |
T |
A |
7: 34,349,547 (GRCm39) |
N26Y |
possibly damaging |
Het |
| Kdm1b |
T |
C |
13: 47,232,729 (GRCm39) |
V733A |
possibly damaging |
Het |
| Lhx8 |
A |
T |
3: 154,027,340 (GRCm39) |
L234H |
probably damaging |
Het |
| Lrp2 |
T |
A |
2: 69,337,098 (GRCm39) |
T1225S |
probably damaging |
Het |
| Lrrn1 |
G |
A |
6: 107,545,488 (GRCm39) |
D429N |
probably benign |
Het |
| Mettl3 |
A |
T |
14: 52,536,243 (GRCm39) |
N200K |
possibly damaging |
Het |
| Mixl1 |
G |
T |
1: 180,524,336 (GRCm39) |
A81D |
possibly damaging |
Het |
| Mroh2b |
T |
C |
15: 4,980,763 (GRCm39) |
I1444T |
probably benign |
Het |
| Muc15 |
T |
A |
2: 110,561,786 (GRCm39) |
L74* |
probably null |
Het |
| Olfm2 |
T |
A |
9: 20,579,824 (GRCm39) |
Y317F |
probably damaging |
Het |
| Or52a33 |
C |
T |
7: 103,288,886 (GRCm39) |
V154M |
probably benign |
Het |
| Or5b114-ps1 |
G |
A |
19: 13,352,698 (GRCm39) |
S124N |
probably benign |
Het |
| Or5p54 |
T |
A |
7: 107,554,001 (GRCm39) |
I51N |
probably benign |
Het |
| Pclo |
A |
T |
5: 14,763,302 (GRCm39) |
Y3925F |
unknown |
Het |
| Pik3c2g |
A |
T |
6: 139,599,137 (GRCm39) |
R84S |
probably damaging |
Het |
| Pik3c2g |
A |
G |
6: 139,842,518 (GRCm39) |
Q449R |
probably damaging |
Het |
| Psg28 |
T |
C |
7: 18,160,305 (GRCm39) |
E297G |
probably damaging |
Het |
| Qrich2 |
A |
T |
11: 116,337,832 (GRCm39) |
|
probably benign |
Het |
| Rgs9 |
A |
G |
11: 109,130,386 (GRCm39) |
I363T |
probably damaging |
Het |
| Rnpepl1 |
A |
G |
1: 92,844,543 (GRCm39) |
D345G |
probably damaging |
Het |
| Rtn4 |
T |
A |
11: 29,658,023 (GRCm39) |
F726I |
probably damaging |
Het |
| Sart3 |
A |
T |
5: 113,893,507 (GRCm39) |
I330N |
probably damaging |
Het |
| Scn5a |
T |
C |
9: 119,391,440 (GRCm39) |
D84G |
probably damaging |
Het |
| Sema4a |
T |
C |
3: 88,348,008 (GRCm39) |
T438A |
probably damaging |
Het |
| Sfxn1 |
A |
C |
13: 54,242,961 (GRCm39) |
Y73S |
probably benign |
Het |
| Slc24a2 |
A |
G |
4: 86,914,882 (GRCm39) |
M585T |
probably damaging |
Het |
| Slc26a7 |
A |
G |
4: 14,505,471 (GRCm39) |
V656A |
probably benign |
Het |
| Smok2a |
T |
G |
17: 13,445,021 (GRCm39) |
D199E |
probably benign |
Het |
| Tbc1d10c |
T |
C |
19: 4,235,030 (GRCm39) |
I344V |
probably benign |
Het |
| Tll1 |
A |
T |
8: 64,506,925 (GRCm39) |
Y605* |
probably null |
Het |
| Trim75 |
G |
A |
8: 65,435,535 (GRCm39) |
P305L |
probably damaging |
Het |
| Unc13c |
T |
C |
9: 73,838,166 (GRCm39) |
N895S |
probably benign |
Het |
| Vmn2r25 |
A |
T |
6: 123,799,876 (GRCm39) |
I822N |
probably damaging |
Het |
| Wasf3 |
T |
G |
5: 146,407,166 (GRCm39) |
D495E |
unknown |
Het |
| Wdhd1 |
T |
A |
14: 47,510,667 (GRCm39) |
K119* |
probably null |
Het |
| Wnt2b |
T |
A |
3: 104,858,339 (GRCm39) |
D310V |
probably damaging |
Het |
| Zfat |
G |
T |
15: 68,052,626 (GRCm39) |
D389E |
probably damaging |
Het |
| Zfp282 |
G |
A |
6: 47,857,102 (GRCm39) |
V112M |
probably damaging |
Het |
| Zfp617 |
A |
T |
8: 72,687,257 (GRCm39) |
K529I |
probably damaging |
Het |
| Zfp866 |
A |
T |
8: 70,218,373 (GRCm39) |
C416S |
probably damaging |
Het |
| Zfp991 |
G |
A |
4: 147,264,222 (GRCm39) |
G533D |
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 |
|
|
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'- TGAAGAGACTTACCTAGGGCTAG -3'
(R):5'- ACATGGTCACGGTCATACCC -3'
Sequencing Primer
(F):5'- AGCCTGGTCTACATAGCAAGTTCTG -3'
(R):5'- GGATGCAGCCCAGTTTTTAC -3'
|
| Posted On |
2017-07-14 |
Incidental Mutation