Incidental Mutation 'R7304:Crybg1'
| ID |
567176 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Crybg1
|
| Ensembl Gene |
ENSMUSG00000019866 |
| Gene Name |
crystallin beta-gamma domain containing 1 |
| Synonyms |
Aim1 |
| MMRRC Submission |
045365-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R7304 (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 43873254 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Asparagine
at position 1285
(D1285N)
|
| 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: D911N
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
| SMART Domains |
Protein: ENSMUSP00000020017
Gene: ENSMUSG00000019866
AA Change: D911N
| 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: D1285N
PolyPhen 2
Score 0.048 (Sensitivity: 0.94; Specificity: 0.83)
|
| SMART Domains |
Protein: ENSMUSP00000143429
Gene: ENSMUSG00000019866
AA Change: D1285N
| 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: 99.9%
- 10x: 99.7%
- 20x: 98.9%
|
| Validation Efficiency |
100% (66/66) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 67 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca13 |
A |
G |
11: 9,247,203 (GRCm39) |
S2317G |
probably benign |
Het |
| Acap2 |
A |
C |
16: 30,926,934 (GRCm39) |
L502R |
probably benign |
Het |
| Amotl2 |
A |
G |
9: 102,605,549 (GRCm39) |
E467G |
probably damaging |
Het |
| Apbb1ip |
A |
T |
2: 22,743,147 (GRCm39) |
|
probably null |
Het |
| Armc9 |
C |
G |
1: 86,090,437 (GRCm39) |
D77E |
probably benign |
Het |
| Art1 |
T |
A |
7: 101,755,531 (GRCm39) |
S8T |
possibly damaging |
Het |
| Asic5 |
G |
A |
3: 81,916,872 (GRCm39) |
A321T |
possibly damaging |
Het |
| Astn2 |
A |
G |
4: 66,103,612 (GRCm39) |
I267T |
unknown |
Het |
| Bmp8a |
T |
C |
4: 123,236,182 (GRCm39) |
N107S |
probably benign |
Het |
| Card14 |
T |
A |
11: 119,228,573 (GRCm39) |
L633Q |
probably damaging |
Het |
| Chpf |
C |
T |
1: 75,455,698 (GRCm39) |
V18M |
possibly damaging |
Het |
| Cog7 |
T |
C |
7: 121,536,362 (GRCm39) |
I493V |
probably benign |
Het |
| Col3a1 |
A |
T |
1: 45,386,971 (GRCm39) |
N1394I |
unknown |
Het |
| Depdc7 |
A |
G |
2: 104,553,463 (GRCm39) |
V395A |
possibly damaging |
Het |
| Dido1 |
G |
A |
2: 180,329,286 (GRCm39) |
L379F |
probably damaging |
Het |
| Dnajc13 |
G |
T |
9: 104,115,713 (GRCm39) |
T32N |
probably benign |
Het |
| Dok2 |
T |
A |
14: 71,013,468 (GRCm39) |
S133R |
probably benign |
Het |
| Ehbp1l1 |
C |
T |
19: 5,766,410 (GRCm39) |
R1311H |
probably damaging |
Het |
| Gm3099 |
A |
T |
14: 15,346,488 (GRCm39) |
N118I |
probably damaging |
Het |
| Gtse1 |
A |
G |
15: 85,755,748 (GRCm39) |
T471A |
probably benign |
Het |
| Heg1 |
G |
A |
16: 33,581,160 (GRCm39) |
A13T |
possibly damaging |
Het |
| Ifi209 |
A |
T |
1: 173,470,156 (GRCm39) |
Y248F |
possibly damaging |
Het |
| Irag1 |
T |
C |
7: 110,498,931 (GRCm39) |
T367A |
possibly damaging |
Het |
| Itgb3bp |
C |
G |
4: 99,657,758 (GRCm39) |
E169Q |
probably damaging |
Het |
| Kcna2 |
A |
G |
3: 107,012,066 (GRCm39) |
T216A |
probably benign |
Het |
| Kcnj6 |
A |
T |
16: 94,742,042 (GRCm39) |
M10K |
probably benign |
Het |
| Krt17 |
T |
G |
11: 100,148,163 (GRCm39) |
Q397P |
probably benign |
Het |
| Lrtm1 |
T |
A |
14: 28,744,075 (GRCm39) |
M181K |
probably damaging |
Het |
| Map3k5 |
A |
G |
10: 19,975,301 (GRCm39) |
H741R |
probably damaging |
Het |
| Mier1 |
T |
A |
4: 102,996,599 (GRCm39) |
Y120* |
probably null |
Het |
| Myh14 |
T |
A |
7: 44,279,415 (GRCm39) |
T922S |
probably benign |
Het |
| Nfkbie |
A |
T |
17: 45,871,067 (GRCm39) |
I240F |
possibly damaging |
Het |
| Npas3 |
C |
A |
12: 54,115,824 (GRCm39) |
H915Q |
probably damaging |
Het |
| Nrg2 |
A |
T |
18: 36,178,994 (GRCm39) |
V314E |
probably benign |
Het |
| Or2z9 |
T |
A |
8: 72,854,190 (GRCm39) |
Y195* |
probably null |
Het |
| Pds5a |
T |
C |
5: 65,777,077 (GRCm39) |
N28S |
probably damaging |
Het |
| Pira1 |
T |
C |
7: 3,740,493 (GRCm39) |
T243A |
probably damaging |
Het |
| Pkhd1l1 |
A |
T |
15: 44,361,878 (GRCm39) |
N517I |
possibly damaging |
Het |
| Plekhb1 |
T |
C |
7: 100,294,874 (GRCm39) |
Y99C |
probably benign |
Het |
| Plpp6 |
T |
C |
19: 28,941,617 (GRCm39) |
S73P |
probably benign |
Het |
| Polb |
T |
C |
8: 23,129,975 (GRCm39) |
N199S |
probably benign |
Het |
| Ppp1r13b |
T |
C |
12: 111,838,840 (GRCm39) |
N13D |
possibly damaging |
Het |
| Prorp |
A |
G |
12: 55,351,429 (GRCm39) |
D246G |
probably damaging |
Het |
| Ptprn2 |
T |
A |
12: 117,212,164 (GRCm39) |
V862D |
probably damaging |
Het |
| Rassf4 |
T |
C |
6: 116,617,278 (GRCm39) |
I242M |
probably damaging |
Het |
| Rnf19a |
G |
A |
15: 36,254,598 (GRCm39) |
T320I |
probably damaging |
Het |
| Sctr |
A |
T |
1: 119,949,970 (GRCm39) |
E53V |
probably damaging |
Het |
| Srcin1 |
T |
C |
11: 97,442,519 (GRCm39) |
D103G |
probably benign |
Het |
| St3gal3 |
T |
C |
4: 117,814,633 (GRCm39) |
Q220R |
|
Het |
| Stk40 |
G |
A |
4: 126,019,483 (GRCm39) |
E86K |
probably benign |
Het |
| Tas2r104 |
T |
A |
6: 131,662,005 (GRCm39) |
I235F |
possibly damaging |
Het |
| Terf2ip |
T |
C |
8: 112,738,280 (GRCm39) |
V56A |
possibly damaging |
Het |
| Thsd7b |
A |
G |
1: 130,030,890 (GRCm39) |
N1075S |
probably benign |
Het |
| Trak1 |
A |
G |
9: 121,245,278 (GRCm39) |
Y51C |
probably benign |
Het |
| Trav16n |
T |
A |
14: 53,588,859 (GRCm39) |
V45E |
probably benign |
Het |
| Ttc6 |
T |
C |
12: 57,622,837 (GRCm39) |
S79P |
probably damaging |
Het |
| Unc79 |
C |
T |
12: 103,029,449 (GRCm39) |
T484M |
probably damaging |
Het |
| Usp49 |
T |
C |
17: 47,983,796 (GRCm39) |
V267A |
possibly damaging |
Het |
| Vldlr |
T |
A |
19: 27,216,004 (GRCm39) |
D305E |
possibly damaging |
Het |
| Vmn1r226 |
G |
T |
17: 20,908,011 (GRCm39) |
C81F |
probably damaging |
Het |
| Vmn1r73 |
T |
C |
7: 11,490,824 (GRCm39) |
V214A |
probably damaging |
Het |
| Vmn2r5 |
T |
C |
3: 64,411,671 (GRCm39) |
N299S |
probably damaging |
Het |
| Vwa3b |
T |
C |
1: 37,203,586 (GRCm39) |
L55S |
probably damaging |
Het |
| Wdr90 |
T |
C |
17: 26,070,480 (GRCm39) |
D1105G |
probably benign |
Het |
| Zbtb38 |
A |
G |
9: 96,569,480 (GRCm39) |
S535P |
probably damaging |
Het |
| Zfp329 |
T |
C |
7: 12,544,826 (GRCm39) |
I233V |
probably damaging |
Het |
| Zfp579 |
T |
A |
7: 4,997,582 (GRCm39) |
T110S |
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 |
|
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'- ACCATAGAGTCTGATAAGGACATTCC -3'
(R):5'- TCAGAACAGCTCCGTATCTCAG -3'
Sequencing Primer
(F):5'- TCTGATAAGGACATTCCAGAAAAGG -3'
(R):5'- CGTATCTCAGTCATCAGTGGTACAG -3'
|
| Posted On |
2019-06-26 |
Incidental Mutation