Incidental Mutation 'R6277:Crybg1'
ID |
507724 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Crybg1
|
Ensembl Gene |
ENSMUSG00000019866 |
Gene Name |
crystallin beta-gamma domain containing 1 |
Synonyms |
Aim1 |
MMRRC Submission |
044447-MU
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R6277 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
10 |
Chromosomal Location |
43826632-44024849 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to A
at 43873255 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Glutamic Acid to Aspartic acid
at position 1284
(E1284D)
|
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: E910D
PolyPhen 2
Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)
|
SMART Domains |
Protein: ENSMUSP00000020017 Gene: ENSMUSG00000019866 AA Change: E910D
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: E1284D
PolyPhen 2
Score 0.027 (Sensitivity: 0.95; Specificity: 0.81)
|
SMART Domains |
Protein: ENSMUSP00000143429 Gene: ENSMUSG00000019866 AA Change: E1284D
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 |
0.0836 |
Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 98.2%
- 20x: 95.2%
|
Validation Efficiency |
96% (70/73) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 70 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
3425401B19Rik |
A |
G |
14: 32,385,651 (GRCm39) |
Y105H |
possibly damaging |
Het |
4921539E11Rik |
A |
T |
4: 103,088,668 (GRCm39) |
Y179* |
probably null |
Het |
Abca7 |
G |
C |
10: 79,841,992 (GRCm39) |
V1042L |
probably benign |
Het |
Adck5 |
C |
A |
15: 76,477,463 (GRCm39) |
T99K |
possibly damaging |
Het |
Adcy5 |
A |
G |
16: 35,109,896 (GRCm39) |
T823A |
probably benign |
Het |
Adra1d |
G |
T |
2: 131,403,083 (GRCm39) |
R336S |
probably damaging |
Het |
Arhgap39 |
A |
T |
15: 76,619,337 (GRCm39) |
M749K |
probably damaging |
Het |
Arid4a |
A |
G |
12: 71,086,665 (GRCm39) |
R168G |
possibly damaging |
Het |
Atxn10 |
A |
G |
15: 85,275,893 (GRCm39) |
T317A |
probably benign |
Het |
Bicc1 |
T |
C |
10: 70,863,731 (GRCm39) |
K22E |
possibly damaging |
Het |
Cacna1b |
T |
G |
2: 24,620,808 (GRCm39) |
T281P |
probably damaging |
Het |
Ccdc174 |
A |
T |
6: 91,857,272 (GRCm39) |
Q26L |
probably damaging |
Het |
Celf3 |
T |
C |
3: 94,392,672 (GRCm39) |
C124R |
probably damaging |
Het |
Cfap44 |
A |
G |
16: 44,257,669 (GRCm39) |
E1068G |
probably benign |
Het |
Dcbld2 |
T |
A |
16: 58,272,119 (GRCm39) |
Y392N |
probably damaging |
Het |
Dcbld2 |
C |
T |
16: 58,285,866 (GRCm39) |
P675L |
probably damaging |
Het |
Dnah12 |
A |
T |
14: 26,492,439 (GRCm39) |
H1193L |
probably damaging |
Het |
Efcab3 |
G |
C |
11: 104,901,148 (GRCm39) |
E4422D |
possibly damaging |
Het |
Ern2 |
A |
G |
7: 121,785,330 (GRCm39) |
F16L |
probably benign |
Het |
Fam163b |
G |
T |
2: 27,002,763 (GRCm39) |
T78N |
probably benign |
Het |
Fbxw21 |
A |
T |
9: 108,974,623 (GRCm39) |
I299K |
possibly damaging |
Het |
Foxg1 |
A |
G |
12: 49,432,299 (GRCm39) |
N344S |
probably benign |
Het |
Git2 |
A |
G |
5: 114,871,308 (GRCm39) |
I202T |
probably damaging |
Het |
Gm11595 |
G |
T |
11: 99,663,510 (GRCm39) |
P57T |
unknown |
Het |
Gm12258 |
G |
A |
11: 58,745,113 (GRCm39) |
V15M |
probably damaging |
Het |
Gm15056 |
C |
T |
8: 21,390,914 (GRCm39) |
G40S |
probably damaging |
Het |
Gnal |
C |
A |
18: 67,346,143 (GRCm39) |
H274Q |
probably damaging |
Het |
Hormad2 |
A |
T |
11: 4,371,583 (GRCm39) |
|
probably null |
Het |
Ighv7-2 |
A |
G |
12: 113,876,087 (GRCm39) |
I6T |
probably benign |
Het |
Irf9 |
A |
G |
14: 55,845,109 (GRCm39) |
D323G |
probably benign |
Het |
Klhl23 |
G |
T |
2: 69,664,096 (GRCm39) |
D482Y |
probably damaging |
Het |
Lama4 |
A |
G |
10: 38,982,006 (GRCm39) |
N1745S |
probably damaging |
Het |
Lct |
T |
A |
1: 128,231,974 (GRCm39) |
Y625F |
probably benign |
Het |
Lrrc26 |
T |
C |
2: 25,180,116 (GRCm39) |
V39A |
probably benign |
Het |
Mllt6 |
G |
A |
11: 97,564,774 (GRCm39) |
A527T |
probably damaging |
Het |
Mrgprb4 |
T |
A |
7: 47,848,649 (GRCm39) |
D93V |
probably benign |
Het |
Nlrp5 |
A |
G |
7: 23,120,880 (GRCm39) |
D698G |
probably damaging |
Het |
Or13p10 |
T |
A |
4: 118,523,520 (GRCm39) |
S269T |
probably benign |
Het |
Pacsin1 |
T |
A |
17: 27,924,969 (GRCm39) |
|
probably null |
Het |
Padi3 |
A |
T |
4: 140,518,472 (GRCm39) |
|
probably null |
Het |
Pcdha8 |
T |
C |
18: 37,127,411 (GRCm39) |
I631T |
probably damaging |
Het |
Pkn3 |
G |
A |
2: 29,972,957 (GRCm39) |
G315D |
possibly damaging |
Het |
Ppfibp1 |
T |
A |
6: 146,907,422 (GRCm39) |
D228E |
probably benign |
Het |
Prag1 |
G |
T |
8: 36,613,745 (GRCm39) |
R1099L |
probably damaging |
Het |
Pramel31 |
A |
G |
4: 144,090,223 (GRCm39) |
E421G |
probably damaging |
Het |
Prr36 |
A |
G |
8: 4,264,746 (GRCm39) |
|
probably benign |
Het |
Prrc2c |
A |
G |
1: 162,541,883 (GRCm39) |
S369P |
probably benign |
Het |
Ptprn2 |
A |
G |
12: 116,839,800 (GRCm39) |
D441G |
probably benign |
Het |
Slc9c1 |
G |
A |
16: 45,427,204 (GRCm39) |
|
probably benign |
Het |
Slit1 |
G |
A |
19: 41,588,948 (GRCm39) |
T1513I |
possibly damaging |
Het |
Smcr8 |
C |
T |
11: 60,669,635 (GRCm39) |
T261M |
probably benign |
Het |
Spata17 |
G |
A |
1: 186,926,151 (GRCm39) |
R60* |
probably null |
Het |
Speer4f1 |
A |
G |
5: 17,681,241 (GRCm39) |
R40G |
probably damaging |
Het |
Spns3 |
A |
G |
11: 72,420,466 (GRCm39) |
V340A |
possibly damaging |
Het |
Srgap3 |
T |
C |
6: 112,716,344 (GRCm39) |
I595V |
probably benign |
Het |
Srms |
G |
A |
2: 180,848,038 (GRCm39) |
A489V |
possibly damaging |
Het |
St3gal4 |
T |
C |
9: 34,964,558 (GRCm39) |
N169S |
probably damaging |
Het |
Taar5 |
T |
A |
10: 23,847,169 (GRCm39) |
V189E |
probably damaging |
Het |
Tbc1d32 |
G |
A |
10: 56,071,525 (GRCm39) |
P333L |
probably benign |
Het |
Tet3 |
G |
T |
6: 83,345,066 (GRCm39) |
Y1790* |
probably null |
Het |
Ticrr |
T |
A |
7: 79,344,444 (GRCm39) |
H1436Q |
probably benign |
Het |
Top6bl |
G |
T |
19: 4,677,250 (GRCm39) |
S466* |
probably null |
Het |
Ubl7 |
C |
T |
9: 57,830,555 (GRCm39) |
L334F |
possibly damaging |
Het |
Unc13a |
A |
G |
8: 72,119,283 (GRCm39) |
|
probably null |
Het |
Unc13c |
T |
C |
9: 73,606,451 (GRCm39) |
D1303G |
probably damaging |
Het |
Vmn2r114 |
A |
G |
17: 23,509,954 (GRCm39) |
L842P |
possibly damaging |
Het |
Vps35 |
G |
T |
8: 85,987,857 (GRCm39) |
Q765K |
possibly damaging |
Het |
Zfp87 |
G |
T |
13: 74,520,643 (GRCm39) |
S145* |
probably null |
Het |
Zgrf1 |
C |
T |
3: 127,392,461 (GRCm39) |
A1327V |
possibly damaging |
Het |
Zkscan6 |
T |
A |
11: 65,718,983 (GRCm39) |
S334R |
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 |
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 |
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'- GTCATACCGGCTTGCTTTG -3'
(R):5'- GACGTCAGTCAACACAATGAGC -3'
Sequencing Primer
(F):5'- CTTGCTTTGAAAAGGCCCAG -3'
(R):5'- CGTATCTCAGTCATCAGTGGTACAG -3'
|
Posted On |
2018-03-15 |