Incidental Mutation 'R9486:Crybg1'
| ID |
716594 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Crybg1
|
| Ensembl Gene |
ENSMUSG00000019866 |
| Gene Name |
crystallin beta-gamma domain containing 1 |
| Synonyms |
Aim1 |
| MMRRC Submission |
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R9486 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
10 |
| Chromosomal Location |
43826632-44024849 bp(-) (GRCm39) |
| Type of Mutation |
start gained |
| DNA Base Change (assembly) |
A to G
at 43880145 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000020017
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000020017]
[ENSMUST00000200401]
|
| AlphaFold |
A0A0G2JG52 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000020017
|
| SMART Domains |
Protein: ENSMUSP00000020017
Gene: ENSMUSG00000019866
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
3 |
16 |
N/A |
INTRINSIC |
|
low complexity region
|
114 |
121 |
N/A |
INTRINSIC |
|
low complexity region
|
176 |
192 |
N/A |
INTRINSIC |
|
low complexity region
|
436 |
453 |
N/A |
INTRINSIC |
|
low complexity region
|
507 |
518 |
N/A |
INTRINSIC |
|
low complexity region
|
544 |
557 |
N/A |
INTRINSIC |
|
low complexity region
|
837 |
857 |
N/A |
INTRINSIC |
|
XTALbg
|
995 |
1078 |
8.57e-9 |
SMART |
|
XTALbg
|
1094 |
1175 |
4.73e-20 |
SMART |
|
XTALbg
|
1189 |
1282 |
1.23e-32 |
SMART |
|
XTALbg
|
1290 |
1373 |
9.3e-28 |
SMART |
|
XTALbg
|
1386 |
1465 |
1.66e-24 |
SMART |
|
XTALbg
|
1473 |
1553 |
5.29e-32 |
SMART |
|
RICIN
|
1556 |
1689 |
5.86e-15 |
SMART |
|
| Predicted Effect |
silent
Transcript: ENSMUST00000200401
|
| SMART Domains |
Protein: ENSMUSP00000143429
Gene: ENSMUSG00000019866
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
377 |
390 |
N/A |
INTRINSIC |
|
low complexity region
|
488 |
495 |
N/A |
INTRINSIC |
|
low complexity region
|
550 |
566 |
N/A |
INTRINSIC |
|
low complexity region
|
810 |
827 |
N/A |
INTRINSIC |
|
low complexity region
|
881 |
892 |
N/A |
INTRINSIC |
|
low complexity region
|
918 |
931 |
N/A |
INTRINSIC |
|
low complexity region
|
1211 |
1231 |
N/A |
INTRINSIC |
|
XTALbg
|
1369 |
1452 |
5.4e-11 |
SMART |
|
XTALbg
|
1468 |
1549 |
2.9e-22 |
SMART |
|
XTALbg
|
1563 |
1656 |
7.9e-35 |
SMART |
|
XTALbg
|
1664 |
1747 |
6e-30 |
SMART |
|
XTALbg
|
1760 |
1839 |
1.1e-26 |
SMART |
|
XTALbg
|
1847 |
1927 |
3.3e-34 |
SMART |
|
RICIN
|
1930 |
2063 |
3.3e-17 |
SMART |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.6%
- 20x: 98.8%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 70 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| A2ml1 |
A |
G |
6: 128,546,942 (GRCm39) |
F396L |
probably damaging |
Het |
| Abca13 |
T |
C |
11: 9,240,621 (GRCm39) |
I828T |
possibly damaging |
Het |
| Ace3 |
A |
T |
11: 105,896,219 (GRCm39) |
T722S |
probably benign |
Het |
| Acot2 |
A |
G |
12: 84,039,426 (GRCm39) |
T312A |
probably benign |
Het |
| Adra2a |
A |
G |
19: 54,035,963 (GRCm39) |
I440V |
probably damaging |
Het |
| Arhgap22 |
T |
A |
14: 33,073,303 (GRCm39) |
M4K |
probably benign |
Het |
| Atp8b3 |
C |
T |
10: 80,366,821 (GRCm39) |
C259Y |
probably damaging |
Het |
| Bcl2 |
T |
A |
1: 106,471,109 (GRCm39) |
Y199F |
probably benign |
Het |
| Brca1 |
A |
T |
11: 101,414,520 (GRCm39) |
C1205S |
probably benign |
Het |
| Col7a1 |
T |
C |
9: 108,811,396 (GRCm39) |
V2743A |
unknown |
Het |
| Cyp2c40 |
T |
A |
19: 39,755,808 (GRCm39) |
H502L |
probably benign |
Het |
| Cyp2c40 |
A |
T |
19: 39,796,050 (GRCm39) |
Y109* |
probably null |
Het |
| Cyp4a29 |
T |
C |
4: 115,106,916 (GRCm39) |
M191T |
probably damaging |
Het |
| Dcaf1 |
A |
G |
9: 106,735,916 (GRCm39) |
R955G |
possibly damaging |
Het |
| Dcaf4 |
G |
T |
12: 83,582,726 (GRCm39) |
A274S |
probably damaging |
Het |
| Dlx1 |
A |
G |
2: 71,362,828 (GRCm39) |
H245R |
probably damaging |
Het |
| Dnah14 |
A |
G |
1: 181,508,494 (GRCm39) |
N1891D |
possibly damaging |
Het |
| Dock10 |
A |
T |
1: 80,479,452 (GRCm39) |
V2167D |
unknown |
Het |
| Epyc |
A |
G |
10: 97,511,697 (GRCm39) |
Q230R |
probably benign |
Het |
| Etnk1 |
G |
A |
6: 143,130,310 (GRCm39) |
R143H |
probably damaging |
Het |
| Fhip2b |
T |
C |
14: 70,826,479 (GRCm39) |
D203G |
probably benign |
Het |
| Fmo2 |
T |
C |
1: 162,708,292 (GRCm39) |
E281G |
probably damaging |
Het |
| Gm2042 |
T |
A |
12: 87,925,963 (GRCm39) |
Y304N |
possibly damaging |
Het |
| Hecw2 |
T |
C |
1: 53,852,466 (GRCm39) |
D1551G |
probably damaging |
Het |
| Hgd |
A |
T |
16: 37,413,811 (GRCm39) |
D91V |
probably benign |
Het |
| Hspa12a |
A |
G |
19: 58,797,891 (GRCm39) |
F276L |
probably benign |
Het |
| Ifitm10 |
C |
T |
7: 141,909,812 (GRCm39) |
V95M |
probably damaging |
Het |
| Ints3 |
G |
A |
3: 90,313,579 (GRCm39) |
R350* |
probably null |
Het |
| Kdm4c |
T |
A |
4: 74,252,966 (GRCm39) |
I511K |
probably benign |
Het |
| Kif27 |
A |
G |
13: 58,492,348 (GRCm39) |
S264P |
probably damaging |
Het |
| L1td1 |
A |
G |
4: 98,624,899 (GRCm39) |
T365A |
probably benign |
Het |
| Ltbp2 |
T |
A |
12: 84,878,648 (GRCm39) |
T304S |
possibly damaging |
Het |
| Mamdc4 |
T |
A |
2: 25,455,164 (GRCm39) |
Y962F |
probably benign |
Het |
| Map3k4 |
C |
T |
17: 12,489,860 (GRCm39) |
A524T |
probably damaging |
Het |
| Mfsd8 |
C |
T |
3: 40,789,627 (GRCm39) |
R140H |
probably damaging |
Het |
| Mmp3 |
A |
G |
9: 7,451,256 (GRCm39) |
I331V |
possibly damaging |
Het |
| Mpdz |
T |
A |
4: 81,254,043 (GRCm39) |
I1030F |
probably damaging |
Het |
| Mtx1 |
A |
T |
3: 89,120,163 (GRCm39) |
C62S |
|
Het |
| Muc20 |
A |
T |
16: 32,615,248 (GRCm39) |
V43E |
possibly damaging |
Het |
| Naa25 |
A |
G |
5: 121,577,958 (GRCm39) |
E955G |
probably damaging |
Het |
| Nelfcd |
A |
G |
2: 174,268,635 (GRCm39) |
Y562C |
probably damaging |
Het |
| Nsd2 |
T |
A |
5: 34,018,493 (GRCm39) |
M509K |
probably benign |
Het |
| Obscn |
T |
C |
11: 58,918,272 (GRCm39) |
T207A |
|
Het |
| Or1ad1 |
T |
A |
11: 50,875,691 (GRCm39) |
H54Q |
possibly damaging |
Het |
| Or4a39 |
C |
T |
2: 89,236,959 (GRCm39) |
V155M |
possibly damaging |
Het |
| Or4k5 |
T |
A |
14: 50,385,672 (GRCm39) |
I220L |
probably benign |
Het |
| Osbpl11 |
A |
T |
16: 33,006,283 (GRCm39) |
N37I |
possibly damaging |
Het |
| Pcdh9 |
A |
G |
14: 93,797,956 (GRCm39) |
S1032P |
possibly damaging |
Het |
| Pde6b |
T |
A |
5: 108,551,241 (GRCm39) |
I175N |
probably damaging |
Het |
| Pfkl |
T |
A |
10: 77,824,184 (GRCm39) |
M735L |
probably benign |
Het |
| Pkp4 |
T |
C |
2: 59,138,722 (GRCm39) |
V324A |
probably benign |
Het |
| Ptprb |
T |
A |
10: 116,155,494 (GRCm39) |
C462* |
probably null |
Het |
| Rasal3 |
T |
C |
17: 32,617,910 (GRCm39) |
N221S |
probably benign |
Het |
| Reep1 |
A |
T |
6: 71,684,969 (GRCm39) |
I6F |
probably benign |
Het |
| Rhobtb1 |
T |
A |
10: 69,106,621 (GRCm39) |
F457L |
probably damaging |
Het |
| Ryr1 |
T |
C |
7: 28,777,965 (GRCm39) |
N2184S |
probably benign |
Het |
| Scn11a |
T |
G |
9: 119,624,774 (GRCm39) |
H516P |
possibly damaging |
Het |
| Sipa1l1 |
T |
C |
12: 82,404,139 (GRCm39) |
|
probably null |
Het |
| Slc17a7 |
A |
G |
7: 44,821,606 (GRCm39) |
N381S |
possibly damaging |
Het |
| Slc38a3 |
C |
T |
9: 107,536,322 (GRCm39) |
V25M |
probably benign |
Het |
| Spag1 |
T |
G |
15: 36,181,954 (GRCm39) |
D37E |
probably damaging |
Het |
| Spib |
G |
T |
7: 44,178,815 (GRCm39) |
D114E |
possibly damaging |
Het |
| Tpx2 |
A |
T |
2: 152,726,933 (GRCm39) |
Y400F |
probably damaging |
Het |
| Trhde |
A |
G |
10: 114,532,014 (GRCm39) |
I362T |
possibly damaging |
Het |
| Usp17ld |
C |
T |
7: 102,899,381 (GRCm39) |
G517E |
probably benign |
Het |
| Vmn1r22 |
A |
T |
6: 57,877,404 (GRCm39) |
M191K |
probably damaging |
Het |
| Wdr6 |
G |
A |
9: 108,453,182 (GRCm39) |
R234C |
probably damaging |
Het |
| Zdhhc22 |
C |
T |
12: 87,030,398 (GRCm39) |
M183I |
probably benign |
Het |
| Zfp1007 |
C |
A |
5: 109,824,062 (GRCm39) |
G463* |
probably null |
Het |
| Zfp949 |
C |
A |
9: 88,452,182 (GRCm39) |
T584N |
probably benign |
Het |
|
| Other mutations in Crybg1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00155:Crybg1
|
APN |
10 |
43,868,505 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL00502:Crybg1
|
APN |
10 |
43,834,309 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL00848:Crybg1
|
APN |
10 |
43,843,814 (GRCm39) |
splice site |
probably null |
|
|
IGL01287:Crybg1
|
APN |
10 |
43,868,490 (GRCm39) |
missense |
possibly damaging |
0.53 |
|
IGL01310:Crybg1
|
APN |
10 |
43,879,596 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL01310:Crybg1
|
APN |
10 |
43,851,054 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
IGL02683:Crybg1
|
APN |
10 |
43,865,212 (GRCm39) |
missense |
possibly damaging |
0.64 |
|
IGL03095:Crybg1
|
APN |
10 |
43,865,245 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0062:Crybg1
|
UTSW |
10 |
43,873,902 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R0142:Crybg1
|
UTSW |
10 |
43,875,059 (GRCm39) |
missense |
possibly damaging |
0.83 |
|
R0294:Crybg1
|
UTSW |
10 |
43,862,372 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0539:Crybg1
|
UTSW |
10 |
43,874,894 (GRCm39) |
missense |
probably benign |
0.03 |
|
R0781:Crybg1
|
UTSW |
10 |
43,875,089 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R1110:Crybg1
|
UTSW |
10 |
43,875,089 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R1189:Crybg1
|
UTSW |
10 |
43,874,790 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1428:Crybg1
|
UTSW |
10 |
43,851,074 (GRCm39) |
missense |
probably benign |
0.33 |
|
R1521:Crybg1
|
UTSW |
10 |
43,874,412 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1688:Crybg1
|
UTSW |
10 |
43,849,794 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1728:Crybg1
|
UTSW |
10 |
43,880,015 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R1756:Crybg1
|
UTSW |
10 |
43,862,275 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1773:Crybg1
|
UTSW |
10 |
43,868,544 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R1784:Crybg1
|
UTSW |
10 |
43,880,015 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R1850:Crybg1
|
UTSW |
10 |
43,873,670 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1911:Crybg1
|
UTSW |
10 |
43,873,673 (GRCm39) |
missense |
possibly damaging |
0.47 |
|
R1920:Crybg1
|
UTSW |
10 |
43,873,544 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1964:Crybg1
|
UTSW |
10 |
43,834,326 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2298:Crybg1
|
UTSW |
10 |
43,875,218 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3617:Crybg1
|
UTSW |
10 |
43,832,782 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
R3913:Crybg1
|
UTSW |
10 |
43,874,759 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R4081:Crybg1
|
UTSW |
10 |
43,851,035 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4116:Crybg1
|
UTSW |
10 |
43,875,158 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R4409:Crybg1
|
UTSW |
10 |
43,874,754 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R4583:Crybg1
|
UTSW |
10 |
43,873,616 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4721:Crybg1
|
UTSW |
10 |
43,873,883 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4818:Crybg1
|
UTSW |
10 |
43,874,583 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4859:Crybg1
|
UTSW |
10 |
43,868,565 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4933:Crybg1
|
UTSW |
10 |
43,875,209 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5028:Crybg1
|
UTSW |
10 |
43,874,208 (GRCm39) |
missense |
possibly damaging |
0.74 |
|
R5057:Crybg1
|
UTSW |
10 |
43,865,104 (GRCm39) |
nonsense |
probably null |
|
|
R5102:Crybg1
|
UTSW |
10 |
43,873,832 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5103:Crybg1
|
UTSW |
10 |
43,873,944 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5137:Crybg1
|
UTSW |
10 |
43,834,332 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5212:Crybg1
|
UTSW |
10 |
43,843,739 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R5307:Crybg1
|
UTSW |
10 |
43,879,710 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5353:Crybg1
|
UTSW |
10 |
43,849,661 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5463:Crybg1
|
UTSW |
10 |
43,879,689 (GRCm39) |
nonsense |
probably null |
|
|
R5503:Crybg1
|
UTSW |
10 |
43,874,762 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5583:Crybg1
|
UTSW |
10 |
43,879,506 (GRCm39) |
missense |
probably benign |
0.01 |
|
R5835:Crybg1
|
UTSW |
10 |
43,851,129 (GRCm39) |
missense |
probably benign |
0.28 |
|
R6021:Crybg1
|
UTSW |
10 |
43,873,534 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6032:Crybg1
|
UTSW |
10 |
43,832,756 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6032:Crybg1
|
UTSW |
10 |
43,832,756 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6277:Crybg1
|
UTSW |
10 |
43,873,255 (GRCm39) |
missense |
probably benign |
0.03 |
|
R6338:Crybg1
|
UTSW |
10 |
43,868,505 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6348:Crybg1
|
UTSW |
10 |
43,879,947 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6514:Crybg1
|
UTSW |
10 |
43,873,211 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6785:Crybg1
|
UTSW |
10 |
43,875,167 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6804:Crybg1
|
UTSW |
10 |
43,842,337 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6938:Crybg1
|
UTSW |
10 |
43,873,379 (GRCm39) |
missense |
probably benign |
0.01 |
|
R6983:Crybg1
|
UTSW |
10 |
43,875,338 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7002:Crybg1
|
UTSW |
10 |
43,874,831 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7153:Crybg1
|
UTSW |
10 |
43,840,662 (GRCm39) |
missense |
possibly damaging |
0.64 |
|
R7271:Crybg1
|
UTSW |
10 |
43,873,619 (GRCm39) |
nonsense |
probably null |
|
|
R7293:Crybg1
|
UTSW |
10 |
43,879,428 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7304:Crybg1
|
UTSW |
10 |
43,873,254 (GRCm39) |
missense |
probably benign |
0.05 |
|
R7313:Crybg1
|
UTSW |
10 |
43,865,107 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R7373:Crybg1
|
UTSW |
10 |
43,880,136 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7449:Crybg1
|
UTSW |
10 |
43,880,515 (GRCm39) |
missense |
probably benign |
|
|
R7530:Crybg1
|
UTSW |
10 |
43,875,069 (GRCm39) |
missense |
possibly damaging |
0.62 |
|
R7660:Crybg1
|
UTSW |
10 |
43,874,831 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R7701:Crybg1
|
UTSW |
10 |
43,865,139 (GRCm39) |
missense |
probably benign |
0.06 |
|
R8181:Crybg1
|
UTSW |
10 |
43,862,322 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R8237:Crybg1
|
UTSW |
10 |
43,842,376 (GRCm39) |
nonsense |
probably null |
|
|
R8359:Crybg1
|
UTSW |
10 |
43,868,538 (GRCm39) |
missense |
probably benign |
0.03 |
|
R8751:Crybg1
|
UTSW |
10 |
43,880,838 (GRCm39) |
missense |
probably benign |
0.04 |
|
R8809:Crybg1
|
UTSW |
10 |
43,879,428 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9017:Crybg1
|
UTSW |
10 |
43,880,477 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9069:Crybg1
|
UTSW |
10 |
43,874,103 (GRCm39) |
missense |
probably benign |
0.30 |
|
R9099:Crybg1
|
UTSW |
10 |
43,874,844 (GRCm39) |
missense |
probably benign |
0.01 |
|
R9118:Crybg1
|
UTSW |
10 |
43,879,925 (GRCm39) |
missense |
possibly damaging |
0.56 |
|
R9185:Crybg1
|
UTSW |
10 |
43,880,091 (GRCm39) |
missense |
probably benign |
0.04 |
|
R9561:Crybg1
|
UTSW |
10 |
43,873,428 (GRCm39) |
missense |
probably benign |
0.00 |
|
RF005:Crybg1
|
UTSW |
10 |
43,880,741 (GRCm39) |
missense |
probably benign |
0.03 |
|
RF024:Crybg1
|
UTSW |
10 |
43,880,741 (GRCm39) |
missense |
probably benign |
0.03 |
|
X0065:Crybg1
|
UTSW |
10 |
43,868,522 (GRCm39) |
synonymous |
silent |
|
|
Z1088:Crybg1
|
UTSW |
10 |
43,873,307 (GRCm39) |
missense |
probably benign |
|
|
| Predicted Primers |
PCR Primer
(F):5'- TTTCCGCCAAGCAGTTCTCAG -3'
(R):5'- CATTCCTCACCAGGGAATCG -3'
Sequencing Primer
(F):5'- AAGCAGTTCTCAGCCGCAG -3'
(R):5'- AGGAAGCGTTGCCTGGC -3'
|
| Posted On |
2022-07-18 |
Incidental Mutation