Incidental Mutation 'R7002:Crybg1'
ID |
544609 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Crybg1
|
Ensembl Gene |
ENSMUSG00000019866 |
Gene Name |
crystallin beta-gamma domain containing 1 |
Synonyms |
Aim1 |
MMRRC Submission |
045107-MU
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R7002 (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 43874831 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Aspartic acid to Valine
at position 759
(D759V)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000143429
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000020017]
[ENSMUST00000200401]
|
AlphaFold |
A0A0G2JG52 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000020017
AA Change: D385V
PolyPhen 2
Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000020017 Gene: ENSMUSG00000019866 AA Change: D385V
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 damaging
Transcript: ENSMUST00000200401
AA Change: D759V
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000143429 Gene: ENSMUSG00000019866 AA Change: D759V
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: 100.0%
- 10x: 99.7%
- 20x: 99.1%
|
Validation Efficiency |
100% (73/73) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 73 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abca8b |
A |
G |
11: 109,832,390 (GRCm39) |
S1308P |
probably damaging |
Het |
Abl2 |
A |
T |
1: 156,386,703 (GRCm39) |
R29W |
probably damaging |
Het |
Adam6b |
C |
A |
12: 113,453,327 (GRCm39) |
S48* |
probably null |
Het |
Adamts18 |
T |
A |
8: 114,501,922 (GRCm39) |
D313V |
possibly damaging |
Het |
Aoc1 |
A |
G |
6: 48,882,810 (GRCm39) |
S229G |
probably benign |
Het |
Apol10a |
G |
A |
15: 77,369,046 (GRCm39) |
R15H |
possibly damaging |
Het |
Bend4 |
T |
A |
5: 67,555,602 (GRCm39) |
T535S |
probably benign |
Het |
Blm |
T |
C |
7: 80,119,501 (GRCm39) |
K1024R |
probably benign |
Het |
Brca2 |
T |
C |
5: 150,463,383 (GRCm39) |
V1049A |
probably benign |
Het |
Cerk |
T |
C |
15: 86,040,795 (GRCm39) |
Y188C |
possibly damaging |
Het |
Cic |
C |
T |
7: 24,971,621 (GRCm39) |
R451C |
probably damaging |
Het |
Col18a1 |
A |
T |
10: 77,002,177 (GRCm39) |
V10E |
unknown |
Het |
Cplx1 |
T |
A |
5: 108,668,182 (GRCm39) |
K58M |
probably damaging |
Het |
Cwc25 |
A |
T |
11: 97,638,897 (GRCm39) |
N342K |
probably damaging |
Het |
Dab2 |
A |
T |
15: 6,464,846 (GRCm39) |
T566S |
probably benign |
Het |
Depdc5 |
G |
A |
5: 33,034,502 (GRCm39) |
|
probably null |
Het |
Dip2b |
T |
A |
15: 100,058,346 (GRCm39) |
N408K |
probably benign |
Het |
Dnah12 |
T |
C |
14: 26,598,955 (GRCm39) |
I3631T |
probably damaging |
Het |
Dnase1 |
A |
G |
16: 3,857,410 (GRCm39) |
I236V |
possibly damaging |
Het |
Duox1 |
C |
T |
2: 122,150,358 (GRCm39) |
Q196* |
probably null |
Het |
Eef2k |
G |
A |
7: 120,491,155 (GRCm39) |
R547Q |
probably benign |
Het |
Erich5 |
C |
T |
15: 34,471,508 (GRCm39) |
L246F |
probably damaging |
Het |
Frmpd1 |
C |
T |
4: 45,284,200 (GRCm39) |
A1007V |
probably benign |
Het |
Fsip2 |
T |
A |
2: 82,819,687 (GRCm39) |
I5140N |
possibly damaging |
Het |
Gan |
T |
C |
8: 117,922,586 (GRCm39) |
C440R |
possibly damaging |
Het |
Garnl3 |
T |
A |
2: 32,944,205 (GRCm39) |
H73L |
possibly damaging |
Het |
Gid8 |
T |
G |
2: 180,355,096 (GRCm39) |
M34R |
possibly damaging |
Het |
Gjd4 |
C |
A |
18: 9,280,960 (GRCm39) |
L39F |
possibly damaging |
Het |
Gpatch2l |
G |
A |
12: 86,290,958 (GRCm39) |
R47H |
probably damaging |
Het |
Grhpr |
T |
C |
4: 44,990,427 (GRCm39) |
S306P |
probably damaging |
Het |
H2bc21 |
A |
G |
3: 96,128,689 (GRCm39) |
I70V |
probably benign |
Het |
Hdac4 |
T |
G |
1: 91,896,083 (GRCm39) |
K729T |
possibly damaging |
Het |
Igfbp2 |
C |
T |
1: 72,888,804 (GRCm39) |
H85Y |
probably damaging |
Het |
Igkv4-61 |
T |
G |
6: 69,394,373 (GRCm39) |
I13L |
probably benign |
Het |
Il18r1 |
G |
A |
1: 40,514,013 (GRCm39) |
S73N |
probably benign |
Het |
Immt |
T |
C |
6: 71,838,024 (GRCm39) |
V244A |
probably damaging |
Het |
Irs1 |
T |
C |
1: 82,265,981 (GRCm39) |
Y745C |
probably benign |
Het |
Itpr3 |
T |
C |
17: 27,329,554 (GRCm39) |
V1526A |
probably benign |
Het |
Jrkl |
A |
T |
9: 13,245,526 (GRCm39) |
I45K |
probably damaging |
Het |
Lamp3 |
G |
T |
16: 19,474,172 (GRCm39) |
Q401K |
possibly damaging |
Het |
Lrrfip1 |
T |
A |
1: 91,043,180 (GRCm39) |
H528Q |
probably benign |
Het |
Ltn1 |
A |
T |
16: 87,220,361 (GRCm39) |
D245E |
probably benign |
Het |
Mmut |
T |
A |
17: 41,252,274 (GRCm39) |
I272N |
possibly damaging |
Het |
Mnat1 |
T |
C |
12: 73,277,479 (GRCm39) |
|
probably benign |
Het |
Mprip |
A |
C |
11: 59,652,016 (GRCm39) |
M1907L |
probably benign |
Het |
Nfu1 |
C |
A |
6: 86,993,254 (GRCm39) |
H131Q |
probably benign |
Het |
Nup188 |
T |
A |
2: 30,213,580 (GRCm39) |
S670R |
probably damaging |
Het |
Or5b120 |
A |
G |
19: 13,480,039 (GRCm39) |
N111D |
probably benign |
Het |
Or8k40 |
T |
C |
2: 86,585,025 (GRCm39) |
D19G |
probably benign |
Het |
Pals2 |
C |
T |
6: 50,139,642 (GRCm39) |
P116L |
probably benign |
Het |
Parp4 |
T |
A |
14: 56,839,861 (GRCm39) |
V523E |
probably damaging |
Het |
Pbrm1 |
T |
A |
14: 30,786,777 (GRCm39) |
D631E |
probably benign |
Het |
Prss40 |
A |
T |
1: 34,591,481 (GRCm39) |
|
probably null |
Het |
Rnf13 |
A |
G |
3: 57,741,033 (GRCm39) |
N274S |
probably damaging |
Het |
Rtl1 |
T |
A |
12: 109,560,381 (GRCm39) |
Y486F |
probably damaging |
Het |
Sec14l3 |
A |
T |
11: 4,025,263 (GRCm39) |
H291L |
possibly damaging |
Het |
Senp5 |
A |
G |
16: 31,802,593 (GRCm39) |
S532P |
probably damaging |
Het |
Sepsecs |
T |
C |
5: 52,804,550 (GRCm39) |
|
probably null |
Het |
Serpina1e |
T |
C |
12: 103,914,338 (GRCm39) |
I329V |
probably benign |
Het |
Slc10a4-ps |
T |
A |
5: 72,743,763 (GRCm39) |
|
probably null |
Het |
Slc35f3 |
CTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTC |
CTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTC |
8: 127,115,773 (GRCm39) |
|
unknown |
Het |
Smc5 |
A |
G |
19: 23,209,247 (GRCm39) |
V639A |
probably benign |
Het |
Speg |
T |
A |
1: 75,399,912 (GRCm39) |
V2453E |
probably damaging |
Het |
Syt2 |
T |
A |
1: 134,671,842 (GRCm39) |
F207I |
probably damaging |
Het |
Tchp |
C |
T |
5: 114,846,857 (GRCm39) |
S48L |
probably benign |
Het |
Trim12a |
A |
G |
7: 103,953,383 (GRCm39) |
S243P |
possibly damaging |
Het |
Ttn |
T |
C |
2: 76,628,561 (GRCm39) |
E14533G |
probably damaging |
Het |
Vmn1r50 |
T |
A |
6: 90,084,819 (GRCm39) |
M188K |
probably benign |
Het |
Vps11 |
G |
A |
9: 44,266,376 (GRCm39) |
T437I |
probably damaging |
Het |
Xrn1 |
C |
T |
9: 95,929,843 (GRCm39) |
T1498I |
probably benign |
Het |
Zfp236 |
A |
G |
18: 82,709,701 (GRCm39) |
|
probably null |
Het |
Zfp316 |
T |
C |
5: 143,249,110 (GRCm39) |
D175G |
unknown |
Het |
Zmynd11 |
A |
G |
13: 9,744,366 (GRCm39) |
L256P |
probably damaging |
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 |
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'- GAGATGACTCCCTAGCTGACTC -3'
(R):5'- CTGGTGGTCAAAGAGCCATC -3'
Sequencing Primer
(F):5'- TGACTCAGCCGCTGAAGC -3'
(R):5'- TGGTCAAAGAGCCATCTGCAG -3'
|
Posted On |
2019-05-13 |