Incidental Mutation 'R7449:Crybg1'
ID |
577572 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Crybg1
|
Ensembl Gene |
ENSMUSG00000019866 |
Gene Name |
crystallin beta-gamma domain containing 1 |
Synonyms |
Aim1 |
MMRRC Submission |
045524-MU
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R7449 (G1)
|
Quality Score |
225.009 |
Status
|
Not validated
|
Chromosome |
10 |
Chromosomal Location |
43950636-44148853 bp(-) (GRCm38) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to A
at 44004519 bp (GRCm38)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Glutamic Acid to Aspartic acid
at position 224
(E224D)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000143429
(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 |
probably benign
Transcript: ENSMUST00000200401
AA Change: E224D
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000143429 Gene: ENSMUSG00000019866 AA Change: E224D
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: 99.0%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 73 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abca16 |
T |
A |
7: 120,435,908 (GRCm38) |
Y306N |
possibly damaging |
Het |
Adgrv1 |
A |
T |
13: 81,499,073 (GRCm38) |
V3116D |
probably damaging |
Het |
Adss1 |
A |
T |
12: 112,634,151 (GRCm38) |
T185S |
probably damaging |
Het |
Ago2 |
G |
A |
15: 73,146,499 (GRCm38) |
P30L |
probably damaging |
Het |
Arb2a |
A |
G |
13: 77,759,442 (GRCm38) |
I41V |
probably damaging |
Het |
Atp5pf |
C |
T |
16: 84,831,363 (GRCm38) |
V44M |
probably benign |
Het |
Atp7b |
T |
A |
8: 22,011,849 (GRCm38) |
I833F |
probably damaging |
Het |
Birc6 |
T |
A |
17: 74,702,341 (GRCm38) |
N4869K |
probably benign |
Het |
Cacna1c |
C |
T |
6: 118,602,349 (GRCm38) |
D1796N |
|
Het |
Ccng2 |
C |
G |
5: 93,273,343 (GRCm38) |
S237R |
probably benign |
Het |
Cnga1 |
A |
G |
5: 72,605,304 (GRCm38) |
I289T |
probably benign |
Het |
Dysf |
T |
C |
6: 84,137,380 (GRCm38) |
L1217P |
possibly damaging |
Het |
Ebf2 |
T |
A |
14: 67,410,020 (GRCm38) |
N339K |
probably damaging |
Het |
Eva1c |
T |
C |
16: 90,876,193 (GRCm38) |
|
probably null |
Het |
Fam184a |
T |
C |
10: 53,698,634 (GRCm38) |
E293G |
probably damaging |
Het |
Folh1 |
G |
A |
7: 86,731,748 (GRCm38) |
P506S |
probably benign |
Het |
Ftcd |
A |
T |
10: 76,580,163 (GRCm38) |
K210N |
probably benign |
Het |
Gdf6 |
T |
A |
4: 9,844,494 (GRCm38) |
V6D |
possibly damaging |
Het |
Ghitm |
C |
A |
14: 37,131,581 (GRCm38) |
G101C |
probably damaging |
Het |
Gimap5 |
T |
A |
6: 48,752,904 (GRCm38) |
V136D |
probably damaging |
Het |
Grm4 |
C |
T |
17: 27,435,371 (GRCm38) |
G535D |
probably damaging |
Het |
Gse1 |
T |
C |
8: 120,229,711 (GRCm38) |
S314P |
unknown |
Het |
Hnrnpdl |
A |
G |
5: 100,037,155 (GRCm38) |
I279T |
probably damaging |
Het |
Idi2l |
T |
A |
13: 8,943,304 (GRCm38) |
H51L |
probably damaging |
Het |
Itpr1 |
T |
C |
6: 108,389,384 (GRCm38) |
S923P |
probably damaging |
Het |
Krt39 |
C |
A |
11: 99,518,061 (GRCm38) |
C303F |
probably benign |
Het |
Lrrn1 |
T |
C |
6: 107,568,521 (GRCm38) |
S427P |
possibly damaging |
Het |
Lrrn3 |
T |
A |
12: 41,453,488 (GRCm38) |
R277W |
probably damaging |
Het |
Ltb4r1 |
T |
C |
14: 55,767,918 (GRCm38) |
L226P |
probably damaging |
Het |
Map1b |
C |
T |
13: 99,508,140 (GRCm38) |
R85Q |
probably damaging |
Het |
Mcoln1 |
T |
C |
8: 3,507,285 (GRCm38) |
L125P |
probably damaging |
Het |
Nid1 |
T |
G |
13: 13,482,051 (GRCm38) |
V589G |
probably damaging |
Het |
Nlrp5 |
T |
G |
7: 23,417,526 (GRCm38) |
F225C |
probably benign |
Het |
Notch3 |
C |
T |
17: 32,157,966 (GRCm38) |
A322T |
probably damaging |
Het |
Or14c43 |
A |
G |
7: 86,465,855 (GRCm38) |
H148R |
probably benign |
Het |
Or52a5b |
G |
T |
7: 103,767,819 (GRCm38) |
Q193K |
probably benign |
Het |
Or7g34 |
T |
A |
9: 19,566,866 (GRCm38) |
T173S |
probably benign |
Het |
Otogl |
A |
G |
10: 107,803,663 (GRCm38) |
C1363R |
probably damaging |
Het |
Ovol1 |
T |
A |
19: 5,553,597 (GRCm38) |
D92V |
probably benign |
Het |
Pigt |
T |
C |
2: 164,502,499 (GRCm38) |
L356P |
probably damaging |
Het |
Plekhg3 |
A |
G |
12: 76,566,222 (GRCm38) |
Q434R |
probably damaging |
Het |
Plekhh1 |
T |
C |
12: 79,079,552 (GRCm38) |
F1344L |
probably benign |
Het |
Polr1has |
A |
G |
17: 36,964,383 (GRCm38) |
D16G |
probably damaging |
Het |
Psmd3 |
T |
A |
11: 98,695,551 (GRCm38) |
L515Q |
probably damaging |
Het |
Pus1 |
A |
G |
5: 110,774,586 (GRCm38) |
L405P |
probably damaging |
Het |
Qtrt2 |
T |
A |
16: 43,881,032 (GRCm38) |
H55L |
probably benign |
Het |
Rasgrp1 |
T |
C |
2: 117,287,943 (GRCm38) |
I522V |
probably damaging |
Het |
Raver2 |
T |
A |
4: 101,102,663 (GRCm38) |
H113Q |
probably damaging |
Het |
Recql4 |
T |
C |
15: 76,705,565 (GRCm38) |
D760G |
unknown |
Het |
Rhobtb3 |
C |
T |
13: 75,910,741 (GRCm38) |
V313M |
probably benign |
Het |
Rhox4d |
G |
A |
X: 37,518,992 (GRCm38) |
G191E |
unknown |
Het |
Rictor |
C |
T |
15: 6,772,154 (GRCm38) |
S441L |
probably benign |
Het |
Rnf185 |
T |
C |
11: 3,426,578 (GRCm38) |
Q135R |
probably benign |
Het |
Sema3f |
T |
C |
9: 107,684,036 (GRCm38) |
S584G |
probably damaging |
Het |
Sh3pxd2a |
T |
A |
19: 47,267,652 (GRCm38) |
T904S |
probably benign |
Het |
Slc4a10 |
T |
C |
2: 62,303,946 (GRCm38) |
V1002A |
probably benign |
Het |
Taf1b |
T |
C |
12: 24,504,993 (GRCm38) |
I55T |
probably benign |
Het |
Tchh |
CTCCGCCGGGAGCAAGAGCTCCGCCGGGAGCAAGAGTTCCGCCGGGAGCAAGAGCTCCGCCGGGAGCAAGAGTTCCGCCGGGAGCAAGAGCTCCGCC |
CTCCGCCGGGAGCAAGAGCTCCGCCGGGAGCAAGAGTTCCGCCGGGAGCAAGAGCTCCGCC |
3: 93,446,708 (GRCm38) |
|
probably benign |
Het |
Tenm4 |
A |
T |
7: 96,874,213 (GRCm38) |
D1654V |
possibly damaging |
Het |
Tgfb1 |
G |
A |
7: 25,704,838 (GRCm38) |
V357M |
probably damaging |
Het |
Tnxb |
C |
T |
17: 34,703,361 (GRCm38) |
P2383S |
possibly damaging |
Het |
Trpm1 |
A |
T |
7: 64,208,975 (GRCm38) |
M382L |
probably benign |
Het |
Trrap |
A |
G |
5: 144,851,209 (GRCm38) |
Y3516C |
probably damaging |
Het |
Txnrd1 |
T |
A |
10: 82,885,233 (GRCm38) |
Y494* |
probably null |
Het |
Ubr2 |
C |
T |
17: 46,964,788 (GRCm38) |
E811K |
probably damaging |
Het |
Ubxn4 |
T |
A |
1: 128,244,543 (GRCm38) |
F25I |
possibly damaging |
Het |
Vmn2r117 |
A |
G |
17: 23,459,895 (GRCm38) |
M785T |
probably damaging |
Het |
Vmn2r99 |
G |
A |
17: 19,379,145 (GRCm38) |
D364N |
probably benign |
Het |
Vps45 |
C |
A |
3: 96,047,136 (GRCm38) |
|
probably null |
Het |
Wdr25 |
A |
C |
12: 109,026,441 (GRCm38) |
H426P |
probably damaging |
Het |
Wdr83 |
A |
T |
8: 85,079,681 (GRCm38) |
W136R |
probably damaging |
Het |
Xylt1 |
A |
C |
7: 117,592,005 (GRCm38) |
I343L |
possibly damaging |
Het |
Zscan4b |
T |
C |
7: 10,904,058 (GRCm38) |
Q53R |
possibly damaging |
Het |
|
Other mutations in Crybg1 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00155:Crybg1
|
APN |
10 |
43,992,509 (GRCm38) |
missense |
probably damaging |
1.00 |
IGL00502:Crybg1
|
APN |
10 |
43,958,313 (GRCm38) |
missense |
probably damaging |
1.00 |
IGL00848:Crybg1
|
APN |
10 |
43,967,818 (GRCm38) |
splice site |
probably null |
|
IGL01287:Crybg1
|
APN |
10 |
43,992,494 (GRCm38) |
missense |
possibly damaging |
0.53 |
IGL01310:Crybg1
|
APN |
10 |
44,003,600 (GRCm38) |
missense |
probably damaging |
0.99 |
IGL01310:Crybg1
|
APN |
10 |
43,975,058 (GRCm38) |
missense |
possibly damaging |
0.95 |
IGL02683:Crybg1
|
APN |
10 |
43,989,216 (GRCm38) |
missense |
possibly damaging |
0.64 |
IGL03095:Crybg1
|
APN |
10 |
43,989,249 (GRCm38) |
missense |
probably damaging |
1.00 |
R0062:Crybg1
|
UTSW |
10 |
43,997,906 (GRCm38) |
missense |
probably damaging |
0.98 |
R0142:Crybg1
|
UTSW |
10 |
43,999,063 (GRCm38) |
missense |
possibly damaging |
0.83 |
R0294:Crybg1
|
UTSW |
10 |
43,986,376 (GRCm38) |
missense |
probably damaging |
1.00 |
R0539:Crybg1
|
UTSW |
10 |
43,998,898 (GRCm38) |
missense |
probably benign |
0.03 |
R0781:Crybg1
|
UTSW |
10 |
43,999,093 (GRCm38) |
missense |
possibly damaging |
0.95 |
R1110:Crybg1
|
UTSW |
10 |
43,999,093 (GRCm38) |
missense |
possibly damaging |
0.95 |
R1189:Crybg1
|
UTSW |
10 |
43,998,794 (GRCm38) |
missense |
probably damaging |
1.00 |
R1428:Crybg1
|
UTSW |
10 |
43,975,078 (GRCm38) |
missense |
probably benign |
0.33 |
R1521:Crybg1
|
UTSW |
10 |
43,998,416 (GRCm38) |
missense |
probably damaging |
1.00 |
R1688:Crybg1
|
UTSW |
10 |
43,973,798 (GRCm38) |
missense |
probably damaging |
1.00 |
R1728:Crybg1
|
UTSW |
10 |
44,004,019 (GRCm38) |
missense |
probably damaging |
0.97 |
R1756:Crybg1
|
UTSW |
10 |
43,986,279 (GRCm38) |
missense |
probably damaging |
1.00 |
R1773:Crybg1
|
UTSW |
10 |
43,992,548 (GRCm38) |
missense |
possibly damaging |
0.91 |
R1784:Crybg1
|
UTSW |
10 |
44,004,019 (GRCm38) |
missense |
probably damaging |
0.97 |
R1850:Crybg1
|
UTSW |
10 |
43,997,674 (GRCm38) |
missense |
probably damaging |
1.00 |
R1911:Crybg1
|
UTSW |
10 |
43,997,677 (GRCm38) |
missense |
possibly damaging |
0.47 |
R1920:Crybg1
|
UTSW |
10 |
43,997,548 (GRCm38) |
missense |
probably damaging |
1.00 |
R1964:Crybg1
|
UTSW |
10 |
43,958,330 (GRCm38) |
missense |
probably damaging |
1.00 |
R2298:Crybg1
|
UTSW |
10 |
43,999,222 (GRCm38) |
missense |
probably damaging |
1.00 |
R3617:Crybg1
|
UTSW |
10 |
43,956,786 (GRCm38) |
missense |
possibly damaging |
0.82 |
R3913:Crybg1
|
UTSW |
10 |
43,998,763 (GRCm38) |
missense |
possibly damaging |
0.95 |
R4081:Crybg1
|
UTSW |
10 |
43,975,039 (GRCm38) |
missense |
probably damaging |
1.00 |
R4116:Crybg1
|
UTSW |
10 |
43,999,162 (GRCm38) |
missense |
possibly damaging |
0.91 |
R4409:Crybg1
|
UTSW |
10 |
43,998,758 (GRCm38) |
missense |
possibly damaging |
0.94 |
R4583:Crybg1
|
UTSW |
10 |
43,997,620 (GRCm38) |
missense |
probably damaging |
1.00 |
R4721:Crybg1
|
UTSW |
10 |
43,997,887 (GRCm38) |
missense |
probably damaging |
1.00 |
R4818:Crybg1
|
UTSW |
10 |
43,998,587 (GRCm38) |
missense |
probably benign |
0.00 |
R4859:Crybg1
|
UTSW |
10 |
43,992,569 (GRCm38) |
missense |
probably damaging |
1.00 |
R4933:Crybg1
|
UTSW |
10 |
43,999,213 (GRCm38) |
missense |
probably damaging |
1.00 |
R5028:Crybg1
|
UTSW |
10 |
43,998,212 (GRCm38) |
missense |
possibly damaging |
0.74 |
R5057:Crybg1
|
UTSW |
10 |
43,989,108 (GRCm38) |
nonsense |
probably null |
|
R5102:Crybg1
|
UTSW |
10 |
43,997,836 (GRCm38) |
missense |
probably damaging |
1.00 |
R5103:Crybg1
|
UTSW |
10 |
43,997,948 (GRCm38) |
missense |
probably damaging |
1.00 |
R5137:Crybg1
|
UTSW |
10 |
43,958,336 (GRCm38) |
missense |
probably damaging |
1.00 |
R5212:Crybg1
|
UTSW |
10 |
43,967,743 (GRCm38) |
missense |
possibly damaging |
0.95 |
R5307:Crybg1
|
UTSW |
10 |
44,003,714 (GRCm38) |
missense |
probably benign |
0.00 |
R5353:Crybg1
|
UTSW |
10 |
43,973,665 (GRCm38) |
missense |
probably damaging |
1.00 |
R5463:Crybg1
|
UTSW |
10 |
44,003,693 (GRCm38) |
nonsense |
probably null |
|
R5503:Crybg1
|
UTSW |
10 |
43,998,766 (GRCm38) |
missense |
probably benign |
0.00 |
R5583:Crybg1
|
UTSW |
10 |
44,003,510 (GRCm38) |
missense |
probably benign |
0.01 |
R5835:Crybg1
|
UTSW |
10 |
43,975,133 (GRCm38) |
missense |
probably benign |
0.28 |
R6021:Crybg1
|
UTSW |
10 |
43,997,538 (GRCm38) |
missense |
probably damaging |
1.00 |
R6032:Crybg1
|
UTSW |
10 |
43,956,760 (GRCm38) |
missense |
probably damaging |
1.00 |
R6032:Crybg1
|
UTSW |
10 |
43,956,760 (GRCm38) |
missense |
probably damaging |
1.00 |
R6277:Crybg1
|
UTSW |
10 |
43,997,259 (GRCm38) |
missense |
probably benign |
0.03 |
R6338:Crybg1
|
UTSW |
10 |
43,992,509 (GRCm38) |
missense |
probably damaging |
1.00 |
R6348:Crybg1
|
UTSW |
10 |
44,003,951 (GRCm38) |
missense |
probably damaging |
1.00 |
R6514:Crybg1
|
UTSW |
10 |
43,997,215 (GRCm38) |
missense |
probably damaging |
1.00 |
R6785:Crybg1
|
UTSW |
10 |
43,999,171 (GRCm38) |
missense |
probably benign |
0.00 |
R6804:Crybg1
|
UTSW |
10 |
43,966,341 (GRCm38) |
missense |
probably damaging |
1.00 |
R6938:Crybg1
|
UTSW |
10 |
43,997,383 (GRCm38) |
missense |
probably benign |
0.01 |
R6983:Crybg1
|
UTSW |
10 |
43,999,342 (GRCm38) |
missense |
probably damaging |
1.00 |
R7002:Crybg1
|
UTSW |
10 |
43,998,835 (GRCm38) |
missense |
probably damaging |
1.00 |
R7153:Crybg1
|
UTSW |
10 |
43,964,666 (GRCm38) |
missense |
possibly damaging |
0.64 |
R7271:Crybg1
|
UTSW |
10 |
43,997,623 (GRCm38) |
nonsense |
probably null |
|
R7293:Crybg1
|
UTSW |
10 |
44,003,432 (GRCm38) |
missense |
probably damaging |
1.00 |
R7304:Crybg1
|
UTSW |
10 |
43,997,258 (GRCm38) |
missense |
probably benign |
0.05 |
R7313:Crybg1
|
UTSW |
10 |
43,989,111 (GRCm38) |
missense |
probably damaging |
0.98 |
R7373:Crybg1
|
UTSW |
10 |
44,004,140 (GRCm38) |
missense |
probably benign |
0.00 |
R7530:Crybg1
|
UTSW |
10 |
43,999,073 (GRCm38) |
missense |
possibly damaging |
0.62 |
R7660:Crybg1
|
UTSW |
10 |
43,998,835 (GRCm38) |
missense |
probably damaging |
0.97 |
R7701:Crybg1
|
UTSW |
10 |
43,989,143 (GRCm38) |
missense |
probably benign |
0.06 |
R8181:Crybg1
|
UTSW |
10 |
43,986,326 (GRCm38) |
missense |
probably damaging |
0.98 |
R8237:Crybg1
|
UTSW |
10 |
43,966,380 (GRCm38) |
nonsense |
probably null |
|
R8359:Crybg1
|
UTSW |
10 |
43,992,542 (GRCm38) |
missense |
probably benign |
0.03 |
R8751:Crybg1
|
UTSW |
10 |
44,004,842 (GRCm38) |
missense |
probably benign |
0.04 |
R8809:Crybg1
|
UTSW |
10 |
44,003,432 (GRCm38) |
missense |
probably damaging |
1.00 |
R9017:Crybg1
|
UTSW |
10 |
44,004,481 (GRCm38) |
missense |
probably benign |
0.00 |
R9069:Crybg1
|
UTSW |
10 |
43,998,107 (GRCm38) |
missense |
probably benign |
0.30 |
R9099:Crybg1
|
UTSW |
10 |
43,998,848 (GRCm38) |
missense |
probably benign |
0.01 |
R9118:Crybg1
|
UTSW |
10 |
44,003,929 (GRCm38) |
missense |
possibly damaging |
0.56 |
R9185:Crybg1
|
UTSW |
10 |
44,004,095 (GRCm38) |
missense |
probably benign |
0.04 |
R9486:Crybg1
|
UTSW |
10 |
44,004,149 (GRCm38) |
start gained |
probably benign |
|
R9561:Crybg1
|
UTSW |
10 |
43,997,432 (GRCm38) |
missense |
probably benign |
0.00 |
RF005:Crybg1
|
UTSW |
10 |
44,004,745 (GRCm38) |
missense |
probably benign |
0.03 |
RF024:Crybg1
|
UTSW |
10 |
44,004,745 (GRCm38) |
missense |
probably benign |
0.03 |
X0065:Crybg1
|
UTSW |
10 |
43,992,526 (GRCm38) |
synonymous |
silent |
|
Z1088:Crybg1
|
UTSW |
10 |
43,997,311 (GRCm38) |
missense |
probably benign |
|
|
Predicted Primers |
PCR Primer
(F):5'- CAACGTTAGCACTTTGGTGGG -3'
(R):5'- ACTAAAGGCAACCGACGCTG -3'
Sequencing Primer
(F):5'- TCACCTGGAGGAACCGC -3'
(R):5'- AACCGACGCTGGCGAGG -3'
|
Posted On |
2019-10-07 |