Incidental Mutation 'R9185:Crybg1'
ID |
697325 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Crybg1
|
Ensembl Gene |
ENSMUSG00000019866 |
Gene Name |
crystallin beta-gamma domain containing 1 |
Synonyms |
Aim1 |
MMRRC Submission |
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R9185 (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 43880091 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Threonine to Serine
at position 366
(T366S)
|
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: T366S
PolyPhen 2
Score 0.036 (Sensitivity: 0.94; Specificity: 0.82)
|
SMART Domains |
Protein: ENSMUSP00000143429 Gene: ENSMUSG00000019866 AA Change: T366S
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 |
0.0846 |
Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.6%
- 20x: 98.6%
|
Validation Efficiency |
100% (71/71) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 69 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Acsm2 |
A |
G |
7: 119,177,421 (GRCm39) |
H312R |
possibly damaging |
Het |
Aloxe3 |
T |
C |
11: 69,025,114 (GRCm39) |
F409S |
probably damaging |
Het |
Arfgef1 |
T |
A |
1: 10,215,004 (GRCm39) |
N1630I |
probably damaging |
Het |
Catsperd |
G |
A |
17: 56,968,252 (GRCm39) |
D546N |
probably benign |
Het |
Cbl |
A |
G |
9: 44,064,137 (GRCm39) |
S800P |
probably damaging |
Het |
Ccne1 |
A |
T |
7: 37,799,255 (GRCm39) |
S220T |
probably benign |
Het |
Cd177 |
T |
C |
7: 24,443,668 (GRCm39) |
Y810C |
probably benign |
Het |
Cercam |
T |
C |
2: 29,766,033 (GRCm39) |
V304A |
possibly damaging |
Het |
Cfap100 |
T |
C |
6: 90,390,416 (GRCm39) |
T75A |
|
Het |
Clcn4 |
T |
A |
7: 7,287,197 (GRCm39) |
I744F |
possibly damaging |
Het |
Col15a1 |
G |
C |
4: 47,288,200 (GRCm39) |
|
probably benign |
Het |
Col27a1 |
A |
G |
4: 63,246,887 (GRCm39) |
N1670S |
unknown |
Het |
Cps1 |
G |
A |
1: 67,248,831 (GRCm39) |
R1186Q |
probably benign |
Het |
Cr1l |
C |
A |
1: 194,797,053 (GRCm39) |
C328F |
probably damaging |
Het |
Ctbp2 |
A |
T |
7: 132,615,712 (GRCm39) |
S408T |
probably damaging |
Het |
Dync1h1 |
T |
C |
12: 110,601,937 (GRCm39) |
S1992P |
probably benign |
Het |
Glyatl3 |
A |
T |
17: 41,225,234 (GRCm39) |
V3E |
probably damaging |
Het |
Gse1 |
T |
C |
8: 121,294,908 (GRCm39) |
M343T |
possibly damaging |
Het |
Gys2 |
T |
C |
6: 142,405,112 (GRCm39) |
D225G |
probably damaging |
Het |
Hecw1 |
T |
C |
13: 14,491,628 (GRCm39) |
S42G |
probably damaging |
Het |
Helz2 |
A |
G |
2: 180,871,883 (GRCm39) |
C2673R |
probably benign |
Het |
Hivep1 |
G |
A |
13: 42,337,975 (GRCm39) |
V2685I |
possibly damaging |
Het |
Icam5 |
A |
G |
9: 20,950,165 (GRCm39) |
E908G |
probably damaging |
Het |
Kcne1 |
A |
T |
16: 92,145,796 (GRCm39) |
L16Q |
possibly damaging |
Het |
Kcnk5 |
G |
T |
14: 20,195,135 (GRCm39) |
Y118* |
probably null |
Het |
Kctd11 |
T |
C |
11: 69,770,676 (GRCm39) |
T121A |
possibly damaging |
Het |
Mier3 |
T |
C |
13: 111,851,260 (GRCm39) |
V414A |
probably benign |
Het |
Mindy4 |
T |
C |
6: 55,295,261 (GRCm39) |
S734P |
possibly damaging |
Het |
Mrps26 |
T |
C |
2: 130,405,769 (GRCm39) |
V24A |
probably benign |
Het |
Mug2 |
C |
G |
6: 122,054,442 (GRCm39) |
Q1074E |
probably benign |
Het |
Myo15b |
T |
C |
11: 115,771,255 (GRCm39) |
S1P |
unknown |
Het |
Ninj1 |
A |
T |
13: 49,344,726 (GRCm39) |
T81S |
probably benign |
Het |
Nod2 |
A |
T |
8: 89,391,880 (GRCm39) |
H729L |
probably damaging |
Het |
Nr1i3 |
G |
A |
1: 171,043,955 (GRCm39) |
V49I |
possibly damaging |
Het |
Olfm5 |
G |
A |
7: 103,810,095 (GRCm39) |
Q89* |
probably null |
Het |
Or10ag52 |
A |
T |
2: 87,044,174 (GRCm39) |
T313S |
probably benign |
Het |
Or2n1b |
A |
T |
17: 38,459,754 (GRCm39) |
I92F |
probably damaging |
Het |
Or2y12 |
T |
C |
11: 49,426,501 (GRCm39) |
V163A |
probably benign |
Het |
Or4e1 |
A |
G |
14: 52,700,984 (GRCm39) |
S161P |
probably benign |
Het |
Or51a25 |
C |
T |
7: 102,373,409 (GRCm39) |
R96H |
possibly damaging |
Het |
Or5aq6 |
A |
C |
2: 86,923,200 (GRCm39) |
D180E |
possibly damaging |
Het |
Or5b124 |
A |
T |
19: 13,610,765 (GRCm39) |
T97S |
probably benign |
Het |
Or8g53 |
T |
A |
9: 39,683,404 (GRCm39) |
T231S |
probably benign |
Het |
Pde4dip |
T |
A |
3: 97,666,132 (GRCm39) |
T371S |
probably benign |
Het |
Pkhd1l1 |
T |
A |
15: 44,453,019 (GRCm39) |
S3981R |
probably benign |
Het |
Plxnd1 |
G |
T |
6: 115,934,526 (GRCm39) |
F1802L |
probably damaging |
Het |
Pramel22 |
T |
C |
4: 143,381,898 (GRCm39) |
N266S |
probably benign |
Het |
Prcp |
A |
G |
7: 92,582,257 (GRCm39) |
H449R |
probably benign |
Het |
Prrc2c |
A |
G |
1: 162,532,212 (GRCm39) |
W1468R |
unknown |
Het |
Rcvrn |
A |
G |
11: 67,586,480 (GRCm39) |
T80A |
possibly damaging |
Het |
Rhou |
T |
C |
8: 124,387,793 (GRCm39) |
L175P |
probably damaging |
Het |
Sacs |
T |
C |
14: 61,444,115 (GRCm39) |
S2054P |
probably damaging |
Het |
Slc22a30 |
A |
G |
19: 8,321,917 (GRCm39) |
S414P |
probably benign |
Het |
Slc2a13 |
T |
A |
15: 91,227,906 (GRCm39) |
S429C |
probably damaging |
Het |
Slc35b3 |
A |
G |
13: 39,123,958 (GRCm39) |
|
probably benign |
Het |
Smyd3 |
A |
G |
1: 178,877,854 (GRCm39) |
|
probably null |
Het |
Strip1 |
T |
A |
3: 107,535,530 (GRCm39) |
E64D |
probably damaging |
Het |
Sumf2 |
T |
G |
5: 129,875,909 (GRCm39) |
C25G |
possibly damaging |
Het |
Syngap1 |
A |
C |
17: 27,182,057 (GRCm39) |
D1190A |
possibly damaging |
Het |
Tas2r139 |
C |
T |
6: 42,118,099 (GRCm39) |
T77I |
probably benign |
Het |
Tbce |
A |
T |
13: 14,173,027 (GRCm39) |
V468D |
probably damaging |
Het |
Tmem191 |
G |
A |
16: 17,094,302 (GRCm39) |
R42H |
probably damaging |
Het |
Tmem200c |
T |
C |
17: 69,147,633 (GRCm39) |
V72A |
probably damaging |
Het |
Ttc28 |
T |
G |
5: 111,371,342 (GRCm39) |
F628C |
probably benign |
Het |
Wsb2 |
G |
A |
5: 117,501,736 (GRCm39) |
V34M |
possibly damaging |
Het |
Zfand6 |
A |
G |
7: 84,283,558 (GRCm39) |
S15P |
probably damaging |
Het |
Zfp964 |
A |
G |
8: 70,115,873 (GRCm39) |
N158D |
possibly damaging |
Het |
Zic1 |
G |
T |
9: 91,246,542 (GRCm39) |
Q177K |
probably benign |
Het |
Zswim4 |
T |
C |
8: 84,963,633 (GRCm39) |
M1V |
probably null |
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 |
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 |
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'- TTTCCGCCAAGCAGTTCTCAG -3'
(R):5'- ATTCCTCACCAGGGAATCGC -3'
Sequencing Primer
(F):5'- AAGCAGTTCTCAGCCGCAG -3'
(R):5'- AGGAAGCGTTGCCTGGC -3'
|
Posted On |
2022-02-07 |