Incidental Mutation 'R9099:Crybg1'
ID |
691555 |
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 # |
R9099 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
10 |
Chromosomal Location |
43826632-44024849 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to T
at 43874844 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Valine to Isoleucine
at position 755
(V755I)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000143429
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000020017]
[ENSMUST00000200401]
|
AlphaFold |
A0A0G2JG52 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000020017
AA Change: V381I
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
SMART Domains |
Protein: ENSMUSP00000020017 Gene: ENSMUSG00000019866 AA Change: V381I
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 |
probably benign
Transcript: ENSMUST00000200401
AA Change: V755I
PolyPhen 2
Score 0.007 (Sensitivity: 0.96; Specificity: 0.75)
|
SMART Domains |
Protein: ENSMUSP00000143429 Gene: ENSMUSG00000019866 AA Change: V755I
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 |
|
Meta Mutation Damage Score |
0.0846 |
Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 98.9%
|
Validation Efficiency |
94% (61/65) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 67 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abca8b |
A |
T |
11: 109,871,708 (GRCm39) |
M90K |
probably damaging |
Het |
Actn2 |
T |
C |
13: 12,303,516 (GRCm39) |
D428G |
probably damaging |
Het |
Arrb1 |
T |
C |
7: 99,243,836 (GRCm39) |
V262A |
probably damaging |
Het |
Bok |
A |
G |
1: 93,622,661 (GRCm39) |
I102V |
|
Het |
C87436 |
T |
A |
6: 86,439,567 (GRCm39) |
F419L |
probably damaging |
Het |
Capn15 |
A |
G |
17: 26,192,141 (GRCm39) |
C34R |
probably benign |
Het |
Ccdc8 |
T |
A |
7: 16,728,800 (GRCm39) |
Y96* |
probably null |
Het |
Cd274 |
T |
A |
19: 29,357,771 (GRCm39) |
C154* |
probably null |
Het |
Cfap251 |
A |
G |
5: 123,418,082 (GRCm39) |
|
probably benign |
Het |
Ckap4 |
A |
T |
10: 84,369,402 (GRCm39) |
L110Q |
probably damaging |
Het |
Col26a1 |
A |
T |
5: 136,777,202 (GRCm39) |
D335E |
probably benign |
Het |
Dhx38 |
A |
T |
8: 110,282,783 (GRCm39) |
Y628N |
probably damaging |
Het |
Dnah12 |
A |
T |
14: 26,492,325 (GRCm39) |
K1155M |
probably benign |
Het |
Ei24 |
A |
G |
9: 36,697,270 (GRCm39) |
F153L |
probably damaging |
Het |
Erg |
T |
A |
16: 95,178,188 (GRCm39) |
E246D |
probably benign |
Het |
Exoc6b |
T |
C |
6: 84,982,000 (GRCm39) |
N99D |
possibly damaging |
Het |
Fam222b |
G |
T |
11: 78,046,020 (GRCm39) |
R527L |
probably damaging |
Het |
Fam83h |
T |
C |
15: 75,875,135 (GRCm39) |
Y734C |
probably damaging |
Het |
Fbxo43 |
T |
C |
15: 36,162,619 (GRCm39) |
E196G |
possibly damaging |
Het |
Gata5 |
G |
A |
2: 179,976,131 (GRCm39) |
P11L |
possibly damaging |
Het |
Gbp3 |
A |
T |
3: 142,271,048 (GRCm39) |
S151C |
probably benign |
Het |
Gli3 |
T |
C |
13: 15,901,320 (GRCm39) |
L1569P |
probably damaging |
Het |
Helz |
G |
A |
11: 107,523,041 (GRCm39) |
V742M |
probably damaging |
Het |
Ifi27l2b |
A |
T |
12: 103,418,114 (GRCm39) |
N175K |
unknown |
Het |
Itga1 |
A |
T |
13: 115,185,856 (GRCm39) |
Y49N |
probably damaging |
Het |
Kcnk2 |
T |
C |
1: 188,991,072 (GRCm39) |
T167A |
probably damaging |
Het |
Kirrel2 |
T |
A |
7: 30,147,642 (GRCm39) |
T669S |
probably benign |
Het |
Krt9 |
TCCACTTCCTCCTCCATAGCTGCCCCCACTTCCTCCTCCATAGCTGCCCCCACTTCCTCCTCCATAGCTGCCCCCACTTCCTCCTCCATAGCTGCC |
TCCACTTCCTCCTCCATAGCTGCCCCCACTTCCTCCTCCATAGCTGCCCCCACTTCCTCCTCCATAGCTGCC |
11: 100,079,903 (GRCm39) |
|
probably benign |
Het |
Lrit2 |
A |
T |
14: 36,790,812 (GRCm39) |
T164S |
possibly damaging |
Het |
Lrriq1 |
A |
G |
10: 103,051,864 (GRCm39) |
V296A |
probably damaging |
Het |
Malsu1 |
C |
T |
6: 49,050,731 (GRCm39) |
|
probably benign |
Het |
Moxd1 |
G |
A |
10: 24,155,762 (GRCm39) |
V289I |
probably damaging |
Het |
Nfs1 |
C |
T |
2: 155,968,934 (GRCm39) |
G380E |
probably damaging |
Het |
Nol4l |
C |
A |
2: 153,312,630 (GRCm39) |
R226L |
probably damaging |
Het |
Nsmaf |
CAAACTTTTAAACTT |
CAAACTT |
4: 6,416,543 (GRCm39) |
|
probably null |
Het |
Nup98 |
T |
A |
7: 101,844,173 (GRCm39) |
N54I |
probably damaging |
Het |
Or7g21 |
C |
T |
9: 19,032,890 (GRCm39) |
P210L |
probably benign |
Het |
Or8g22 |
A |
T |
9: 38,958,026 (GRCm39) |
C230S |
probably benign |
Het |
Or8g53 |
A |
G |
9: 39,683,514 (GRCm39) |
I194T |
|
Het |
Otoa |
T |
A |
7: 120,739,055 (GRCm39) |
F755I |
probably benign |
Het |
P4htm |
A |
T |
9: 108,460,911 (GRCm39) |
M187K |
probably benign |
Het |
Phldb3 |
C |
T |
7: 24,323,727 (GRCm39) |
R453C |
probably benign |
Het |
Pkd1l1 |
C |
T |
11: 8,922,986 (GRCm39) |
A94T |
|
Het |
Pkp1 |
A |
G |
1: 135,805,429 (GRCm39) |
F669S |
probably benign |
Het |
Prl8a2 |
C |
G |
13: 27,536,793 (GRCm39) |
Y138* |
probably null |
Het |
Prl8a2 |
T |
A |
13: 27,536,794 (GRCm39) |
Y139N |
probably benign |
Het |
Rtn4r |
T |
A |
16: 17,969,068 (GRCm39) |
N165K |
probably benign |
Het |
Scaper |
G |
T |
9: 55,669,616 (GRCm39) |
D353E |
probably damaging |
Het |
Scn4a |
G |
T |
11: 106,211,000 (GRCm39) |
D1672E |
probably damaging |
Het |
She |
A |
G |
3: 89,739,078 (GRCm39) |
S90G |
probably benign |
Het |
Shmt2 |
A |
T |
10: 127,355,962 (GRCm39) |
D130E |
possibly damaging |
Het |
Slc2a12 |
T |
A |
10: 22,569,923 (GRCm39) |
I538K |
possibly damaging |
Het |
Snx29 |
T |
A |
16: 11,478,435 (GRCm39) |
W322R |
probably damaging |
Het |
Spp1 |
A |
G |
5: 104,588,387 (GRCm39) |
D263G |
probably benign |
Het |
Srek1ip1 |
T |
C |
13: 104,973,964 (GRCm39) |
S124P |
possibly damaging |
Het |
Tcp10b |
C |
T |
17: 13,280,656 (GRCm39) |
|
probably benign |
Het |
Thap12 |
T |
C |
7: 98,364,600 (GRCm39) |
F256S |
probably damaging |
Het |
Tpte |
T |
C |
8: 22,845,497 (GRCm39) |
Y516H |
|
Het |
Trem1 |
C |
A |
17: 48,544,271 (GRCm39) |
Q99K |
possibly damaging |
Het |
Umodl1 |
C |
T |
17: 31,178,147 (GRCm39) |
P41L |
probably benign |
Het |
Upp2 |
T |
C |
2: 58,457,542 (GRCm39) |
|
probably null |
Het |
Zfand1 |
A |
T |
3: 10,406,148 (GRCm39) |
M181K |
probably damaging |
Het |
Zfp292 |
T |
C |
4: 34,809,228 (GRCm39) |
E1277G |
possibly damaging |
Het |
Zfp458 |
G |
T |
13: 67,405,696 (GRCm39) |
P248T |
probably damaging |
Het |
Zfp667 |
T |
A |
7: 6,308,322 (GRCm39) |
M330K |
probably benign |
Het |
Zfp827 |
A |
G |
8: 79,917,107 (GRCm39) |
T561A |
|
Het |
Zfp947 |
C |
T |
17: 22,364,855 (GRCm39) |
G273D |
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 |
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 |
R9486:Crybg1
|
UTSW |
10 |
43,880,145 (GRCm39) |
start gained |
probably benign |
|
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'- TGGCTGTGAGTCAGAAAATGC -3'
(R):5'- CGAAAAGAAAGCTGTGTCAACC -3'
Sequencing Primer
(F):5'- TCAGAAAATGCATCCTGTGGC -3'
(R):5'- TGGTCAAAGAGCCATCTGC -3'
|
Posted On |
2021-12-30 |