Incidental Mutation 'R8809:Crybg1'
| ID |
672287 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Crybg1
|
| Ensembl Gene |
ENSMUSG00000019866 |
| Gene Name |
crystallin beta-gamma domain containing 1 |
| Synonyms |
Aim1 |
| MMRRC Submission |
068645-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R8809 (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 C
at 43879428 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Alanine
at position 587
(T587A)
|
| 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: T213A
PolyPhen 2
Score 0.972 (Sensitivity: 0.77; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000020017
Gene: ENSMUSG00000019866
AA Change: T213A
| 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: T587A
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000143429
Gene: ENSMUSG00000019866
AA Change: T587A
| 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 |
0.0708 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.8%
- 20x: 99.3%
|
| Validation Efficiency |
97% (63/65) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 67 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Actr6 |
C |
T |
10: 89,550,841 (GRCm39) |
V318I |
probably benign |
Het |
| Adam29 |
A |
G |
8: 56,325,659 (GRCm39) |
I265T |
probably benign |
Het |
| Ankdd1a |
A |
T |
9: 65,415,422 (GRCm39) |
|
probably benign |
Het |
| Arcn1 |
T |
C |
9: 44,655,259 (GRCm39) |
T501A |
possibly damaging |
Het |
| B3gntl1 |
A |
T |
11: 121,521,690 (GRCm39) |
F166I |
possibly damaging |
Het |
| Brap |
T |
C |
5: 121,822,524 (GRCm39) |
S467P |
possibly damaging |
Het |
| Cenpb |
A |
G |
2: 131,020,322 (GRCm39) |
V492A |
unknown |
Het |
| Ces1b |
C |
A |
8: 93,786,948 (GRCm39) |
G477V |
probably damaging |
Het |
| Ces1b |
C |
T |
8: 93,786,949 (GRCm39) |
G477R |
probably damaging |
Het |
| Cfap65 |
T |
C |
1: 74,942,382 (GRCm39) |
K1724R |
probably benign |
Het |
| Chrd |
A |
T |
16: 20,553,270 (GRCm39) |
Q182L |
probably benign |
Het |
| Chrnb2 |
T |
C |
3: 89,664,457 (GRCm39) |
T486A |
probably benign |
Het |
| Col25a1 |
A |
T |
3: 130,354,466 (GRCm39) |
|
probably null |
Het |
| Col4a1 |
A |
G |
8: 11,295,916 (GRCm39) |
Y101H |
unknown |
Het |
| Ctnnal1 |
T |
A |
4: 56,835,374 (GRCm39) |
N301I |
possibly damaging |
Het |
| Cyp2f2 |
A |
T |
7: 26,831,995 (GRCm39) |
N417Y |
probably damaging |
Het |
| Dnah6 |
T |
A |
6: 73,009,546 (GRCm39) |
E3800D |
possibly damaging |
Het |
| Dync2i1 |
A |
G |
12: 116,193,234 (GRCm39) |
S573P |
probably damaging |
Het |
| Ehmt2 |
C |
A |
17: 35,127,489 (GRCm39) |
T906K |
probably damaging |
Het |
| Fbxo15 |
A |
G |
18: 84,978,200 (GRCm39) |
H183R |
possibly damaging |
Het |
| Fgl1 |
T |
A |
8: 41,650,368 (GRCm39) |
K194* |
probably null |
Het |
| Fxr1 |
G |
A |
3: 34,108,430 (GRCm39) |
V314I |
possibly damaging |
Het |
| Hrnr |
A |
G |
3: 93,239,443 (GRCm39) |
Q3227R |
unknown |
Het |
| Ier5 |
G |
A |
1: 154,974,716 (GRCm39) |
A154V |
probably benign |
Het |
| Igkc |
T |
G |
6: 70,703,502 (GRCm39) |
L28V |
|
Het |
| Kcnh1 |
G |
A |
1: 191,903,722 (GRCm39) |
G54D |
probably damaging |
Het |
| Kcnn1 |
C |
T |
8: 71,305,297 (GRCm39) |
|
probably null |
Het |
| Kifbp |
C |
T |
10: 62,395,491 (GRCm39) |
D384N |
possibly damaging |
Het |
| Klra2 |
T |
A |
6: 131,197,198 (GRCm39) |
N234I |
possibly damaging |
Het |
| Krtap4-9 |
T |
C |
11: 99,676,454 (GRCm39) |
I125T |
unknown |
Het |
| Lrig2 |
T |
C |
3: 104,368,993 (GRCm39) |
T897A |
probably benign |
Het |
| Lyve1 |
G |
T |
7: 110,452,999 (GRCm39) |
T199K |
probably damaging |
Het |
| Myorg |
T |
C |
4: 41,498,812 (GRCm39) |
T273A |
probably benign |
Het |
| Napa |
A |
G |
7: 15,846,551 (GRCm39) |
D113G |
possibly damaging |
Het |
| Neurog1 |
GGTG |
GGTGTG |
13: 56,399,098 (GRCm39) |
|
probably null |
Het |
| Nf1 |
T |
A |
11: 79,437,964 (GRCm39) |
H91Q |
probably damaging |
Het |
| Or4c11c |
T |
C |
2: 88,662,256 (GRCm39) |
M265T |
probably benign |
Het |
| Or4n4 |
A |
G |
14: 50,519,236 (GRCm39) |
I158T |
probably benign |
Het |
| Or52e3 |
A |
T |
7: 102,869,446 (GRCm39) |
N174Y |
probably benign |
Het |
| Or5k16 |
T |
A |
16: 58,736,248 (GRCm39) |
Y252F |
probably damaging |
Het |
| Or7g16 |
A |
G |
9: 18,726,919 (GRCm39) |
S224P |
probably damaging |
Het |
| Pccb |
A |
T |
9: 100,867,220 (GRCm39) |
Y455* |
probably null |
Het |
| Pdk2 |
A |
T |
11: 94,923,339 (GRCm39) |
I95N |
probably damaging |
Het |
| Pik3c2g |
G |
A |
6: 139,714,436 (GRCm39) |
R196H |
|
Het |
| Pkd1l2 |
A |
G |
8: 117,726,660 (GRCm39) |
L2282P |
probably damaging |
Het |
| Plppr2 |
TCGCC |
TC |
9: 21,855,727 (GRCm39) |
|
probably benign |
Het |
| Prdm1 |
A |
T |
10: 44,315,749 (GRCm39) |
S796T |
probably benign |
Het |
| Rb1 |
A |
G |
14: 73,503,000 (GRCm39) |
F424L |
probably damaging |
Het |
| Retreg3 |
A |
G |
11: 100,992,852 (GRCm39) |
L190P |
probably damaging |
Het |
| Rffl |
A |
G |
11: 82,700,864 (GRCm39) |
Y321H |
probably damaging |
Het |
| Rlbp1 |
A |
G |
7: 79,025,704 (GRCm39) |
Y246H |
probably damaging |
Het |
| Rock2 |
T |
A |
12: 17,015,655 (GRCm39) |
|
probably benign |
Het |
| Slc17a3 |
C |
A |
13: 24,039,575 (GRCm39) |
C244* |
probably null |
Het |
| Snapc1 |
T |
C |
12: 74,021,812 (GRCm39) |
S304P |
probably benign |
Het |
| Sp9 |
T |
C |
2: 73,104,019 (GRCm39) |
L191P |
probably damaging |
Het |
| Spag17 |
A |
T |
3: 99,889,738 (GRCm39) |
E202D |
probably benign |
Het |
| Ss18 |
A |
G |
18: 14,760,344 (GRCm39) |
*419R |
probably null |
Het |
| Tacc2 |
A |
G |
7: 130,276,421 (GRCm39) |
E1824G |
possibly damaging |
Het |
| Tacc3 |
T |
A |
5: 33,824,029 (GRCm39) |
|
probably benign |
Het |
| Tfap2a |
A |
T |
13: 40,870,829 (GRCm39) |
L353Q |
probably damaging |
Het |
| Ugt3a1 |
A |
G |
15: 9,367,345 (GRCm39) |
I363V |
possibly damaging |
Het |
| Vmn1r158 |
A |
G |
7: 22,489,775 (GRCm39) |
C145R |
probably damaging |
Het |
| Vmn1r23 |
A |
T |
6: 57,903,352 (GRCm39) |
I142K |
probably damaging |
Het |
| Vmn2r15 |
A |
T |
5: 109,434,874 (GRCm39) |
I610N |
probably benign |
Het |
| Yy1 |
CGGCGACCACGGCGGCGGCGGGGGCG |
CGGCG |
12: 108,759,506 (GRCm39) |
|
probably benign |
Het |
| Zbtb7c |
T |
C |
18: 76,270,190 (GRCm39) |
Y93H |
probably damaging |
Het |
| Zfp62 |
A |
G |
11: 49,107,238 (GRCm39) |
N443S |
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 |
|
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 |
|
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'- GGGATAGATCCTATTTTCGCATTC -3'
(R):5'- CCGTCAAAAGCAGCTCGTTG -3'
Sequencing Primer
(F):5'- TTCTTAAAGCAGGAATTAGCGGC -3'
(R):5'- TTGCTGCCCGAGATCAAG -3'
|
| Posted On |
2021-04-30 |
Incidental Mutation