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 |
43826632-44024849 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to A
at 43880515 bp (GRCm39)
|
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: 120,035,131 (GRCm39) |
Y306N |
possibly damaging |
Het |
Adgrv1 |
A |
T |
13: 81,647,192 (GRCm39) |
V3116D |
probably damaging |
Het |
Adss1 |
A |
T |
12: 112,600,585 (GRCm39) |
T185S |
probably damaging |
Het |
Ago2 |
G |
A |
15: 73,018,348 (GRCm39) |
P30L |
probably damaging |
Het |
Arb2a |
A |
G |
13: 77,907,561 (GRCm39) |
I41V |
probably damaging |
Het |
Atp5pf |
C |
T |
16: 84,628,251 (GRCm39) |
V44M |
probably benign |
Het |
Atp7b |
T |
A |
8: 22,501,865 (GRCm39) |
I833F |
probably damaging |
Het |
Birc6 |
T |
A |
17: 75,009,336 (GRCm39) |
N4869K |
probably benign |
Het |
Cacna1c |
C |
T |
6: 118,579,310 (GRCm39) |
D1796N |
|
Het |
Ccng2 |
C |
G |
5: 93,421,202 (GRCm39) |
S237R |
probably benign |
Het |
Cnga1 |
A |
G |
5: 72,762,647 (GRCm39) |
I289T |
probably benign |
Het |
Dysf |
T |
C |
6: 84,114,362 (GRCm39) |
L1217P |
possibly damaging |
Het |
Ebf2 |
T |
A |
14: 67,647,469 (GRCm39) |
N339K |
probably damaging |
Het |
Eva1c |
T |
C |
16: 90,673,081 (GRCm39) |
|
probably null |
Het |
Fam184a |
T |
C |
10: 53,574,730 (GRCm39) |
E293G |
probably damaging |
Het |
Folh1 |
G |
A |
7: 86,380,956 (GRCm39) |
P506S |
probably benign |
Het |
Ftcd |
A |
T |
10: 76,415,997 (GRCm39) |
K210N |
probably benign |
Het |
Gdf6 |
T |
A |
4: 9,844,494 (GRCm39) |
V6D |
possibly damaging |
Het |
Ghitm |
C |
A |
14: 36,853,538 (GRCm39) |
G101C |
probably damaging |
Het |
Gimap5 |
T |
A |
6: 48,729,838 (GRCm39) |
V136D |
probably damaging |
Het |
Grm4 |
C |
T |
17: 27,654,345 (GRCm39) |
G535D |
probably damaging |
Het |
Gse1 |
T |
C |
8: 120,956,450 (GRCm39) |
S314P |
unknown |
Het |
Hnrnpdl |
A |
G |
5: 100,185,014 (GRCm39) |
I279T |
probably damaging |
Het |
Idi2l |
T |
A |
13: 8,993,340 (GRCm39) |
H51L |
probably damaging |
Het |
Itpr1 |
T |
C |
6: 108,366,345 (GRCm39) |
S923P |
probably damaging |
Het |
Krt39 |
C |
A |
11: 99,408,887 (GRCm39) |
C303F |
probably benign |
Het |
Lrrn1 |
T |
C |
6: 107,545,482 (GRCm39) |
S427P |
possibly damaging |
Het |
Lrrn3 |
T |
A |
12: 41,503,487 (GRCm39) |
R277W |
probably damaging |
Het |
Ltb4r1 |
T |
C |
14: 56,005,375 (GRCm39) |
L226P |
probably damaging |
Het |
Map1b |
C |
T |
13: 99,644,648 (GRCm39) |
R85Q |
probably damaging |
Het |
Mcoln1 |
T |
C |
8: 3,557,285 (GRCm39) |
L125P |
probably damaging |
Het |
Nid1 |
T |
G |
13: 13,656,636 (GRCm39) |
V589G |
probably damaging |
Het |
Nlrp5 |
T |
G |
7: 23,116,951 (GRCm39) |
F225C |
probably benign |
Het |
Notch3 |
C |
T |
17: 32,376,940 (GRCm39) |
A322T |
probably damaging |
Het |
Or14c43 |
A |
G |
7: 86,115,063 (GRCm39) |
H148R |
probably benign |
Het |
Or52a5b |
G |
T |
7: 103,417,026 (GRCm39) |
Q193K |
probably benign |
Het |
Or7g34 |
T |
A |
9: 19,478,162 (GRCm39) |
T173S |
probably benign |
Het |
Otogl |
A |
G |
10: 107,639,524 (GRCm39) |
C1363R |
probably damaging |
Het |
Ovol1 |
T |
A |
19: 5,603,625 (GRCm39) |
D92V |
probably benign |
Het |
Pigt |
T |
C |
2: 164,344,419 (GRCm39) |
L356P |
probably damaging |
Het |
Plekhg3 |
A |
G |
12: 76,612,996 (GRCm39) |
Q434R |
probably damaging |
Het |
Plekhh1 |
T |
C |
12: 79,126,326 (GRCm39) |
F1344L |
probably benign |
Het |
Polr1has |
A |
G |
17: 37,275,275 (GRCm39) |
D16G |
probably damaging |
Het |
Psmd3 |
T |
A |
11: 98,586,377 (GRCm39) |
L515Q |
probably damaging |
Het |
Pus1 |
A |
G |
5: 110,922,452 (GRCm39) |
L405P |
probably damaging |
Het |
Qtrt2 |
T |
A |
16: 43,701,395 (GRCm39) |
H55L |
probably benign |
Het |
Rasgrp1 |
T |
C |
2: 117,118,424 (GRCm39) |
I522V |
probably damaging |
Het |
Raver2 |
T |
A |
4: 100,959,860 (GRCm39) |
H113Q |
probably damaging |
Het |
Recql4 |
T |
C |
15: 76,589,765 (GRCm39) |
D760G |
unknown |
Het |
Rhobtb3 |
C |
T |
13: 76,058,860 (GRCm39) |
V313M |
probably benign |
Het |
Rhox4d |
G |
A |
X: 36,700,645 (GRCm39) |
G191E |
unknown |
Het |
Rictor |
C |
T |
15: 6,801,635 (GRCm39) |
S441L |
probably benign |
Het |
Rnf185 |
T |
C |
11: 3,376,578 (GRCm39) |
Q135R |
probably benign |
Het |
Sema3f |
T |
C |
9: 107,561,235 (GRCm39) |
S584G |
probably damaging |
Het |
Sh3pxd2a |
T |
A |
19: 47,256,091 (GRCm39) |
T904S |
probably benign |
Het |
Slc4a10 |
T |
C |
2: 62,134,290 (GRCm39) |
V1002A |
probably benign |
Het |
Taf1b |
T |
C |
12: 24,554,992 (GRCm39) |
I55T |
probably benign |
Het |
Tchh |
CTCCGCCGGGAGCAAGAGCTCCGCCGGGAGCAAGAGTTCCGCCGGGAGCAAGAGCTCCGCCGGGAGCAAGAGTTCCGCCGGGAGCAAGAGCTCCGCC |
CTCCGCCGGGAGCAAGAGCTCCGCCGGGAGCAAGAGTTCCGCCGGGAGCAAGAGCTCCGCC |
3: 93,354,015 (GRCm39) |
|
probably benign |
Het |
Tenm4 |
A |
T |
7: 96,523,420 (GRCm39) |
D1654V |
possibly damaging |
Het |
Tgfb1 |
G |
A |
7: 25,404,263 (GRCm39) |
V357M |
probably damaging |
Het |
Tnxb |
C |
T |
17: 34,922,335 (GRCm39) |
P2383S |
possibly damaging |
Het |
Trpm1 |
A |
T |
7: 63,858,723 (GRCm39) |
M382L |
probably benign |
Het |
Trrap |
A |
G |
5: 144,788,019 (GRCm39) |
Y3516C |
probably damaging |
Het |
Txnrd1 |
T |
A |
10: 82,721,067 (GRCm39) |
Y494* |
probably null |
Het |
Ubr2 |
C |
T |
17: 47,275,714 (GRCm39) |
E811K |
probably damaging |
Het |
Ubxn4 |
T |
A |
1: 128,172,280 (GRCm39) |
F25I |
possibly damaging |
Het |
Vmn2r117 |
A |
G |
17: 23,678,869 (GRCm39) |
M785T |
probably damaging |
Het |
Vmn2r99 |
G |
A |
17: 19,599,407 (GRCm39) |
D364N |
probably benign |
Het |
Vps45 |
C |
A |
3: 95,954,448 (GRCm39) |
|
probably null |
Het |
Wdr25 |
A |
C |
12: 108,992,367 (GRCm39) |
H426P |
probably damaging |
Het |
Wdr83 |
A |
T |
8: 85,806,310 (GRCm39) |
W136R |
probably damaging |
Het |
Xylt1 |
A |
C |
7: 117,191,232 (GRCm39) |
I343L |
possibly damaging |
Het |
Zscan4b |
T |
C |
7: 10,637,985 (GRCm39) |
Q53R |
possibly 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 |
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 |
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'- CAACGTTAGCACTTTGGTGGG -3'
(R):5'- ACTAAAGGCAACCGACGCTG -3'
Sequencing Primer
(F):5'- TCACCTGGAGGAACCGC -3'
(R):5'- AACCGACGCTGGCGAGG -3'
|
Posted On |
2019-10-07 |