Incidental Mutation 'R8695:Crybg2'
| ID |
668604 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Crybg2
|
| Ensembl Gene |
ENSMUSG00000012123 |
| Gene Name |
crystallin beta-gamma domain containing 2 |
| Synonyms |
Aim1l |
| MMRRC Submission |
068549-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.876)
|
| Stock # |
R8695 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
4 |
| Chromosomal Location |
133788126-133819815 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 133792766 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Cysteine
at position 134
(S134C)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000154159
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000121391]
[ENSMUST00000137053]
[ENSMUST00000219402]
[ENSMUST00000227683]
|
| AlphaFold |
A0A2I3BQG2 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000121391
|
| SMART Domains |
Protein: ENSMUSP00000114099
Gene: ENSMUSG00000012123
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
171 |
205 |
N/A |
INTRINSIC |
|
low complexity region
|
210 |
226 |
N/A |
INTRINSIC |
|
low complexity region
|
414 |
443 |
N/A |
INTRINSIC |
|
low complexity region
|
560 |
582 |
N/A |
INTRINSIC |
|
low complexity region
|
608 |
625 |
N/A |
INTRINSIC |
|
coiled coil region
|
683 |
703 |
N/A |
INTRINSIC |
|
low complexity region
|
812 |
824 |
N/A |
INTRINSIC |
|
XTALbg
|
842 |
921 |
2.56e-7 |
SMART |
|
XTALbg
|
929 |
1010 |
9.33e-10 |
SMART |
|
XTALbg
|
1024 |
1110 |
5.06e-29 |
SMART |
|
XTALbg
|
1118 |
1199 |
1.4e-22 |
SMART |
|
XTALbg
|
1212 |
1291 |
2.22e-16 |
SMART |
|
XTALbg
|
1299 |
1379 |
1.69e-16 |
SMART |
|
RICIN
|
1383 |
1514 |
7.89e-2 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000137053
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000219402
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000227683
AA Change: S134C
PolyPhen 2
Score 0.548 (Sensitivity: 0.88; Specificity: 0.91)
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.8%
- 20x: 99.5%
|
| Validation Efficiency |
100% (78/78) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 78 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4921524J17Rik |
A |
G |
8: 86,138,870 (GRCm39) |
I73T |
probably benign |
Het |
| 4930556J24Rik |
A |
G |
11: 3,926,192 (GRCm39) |
|
probably benign |
Het |
| Ace |
A |
G |
11: 105,875,971 (GRCm39) |
T1010A |
probably benign |
Het |
| Adam20 |
A |
T |
8: 41,248,865 (GRCm39) |
Y325F |
probably benign |
Het |
| Aff4 |
A |
C |
11: 53,259,509 (GRCm39) |
N7H |
probably damaging |
Het |
| Apob |
A |
T |
12: 8,057,830 (GRCm39) |
D2104V |
probably damaging |
Het |
| Asap3 |
T |
C |
4: 135,965,722 (GRCm39) |
S411P |
probably benign |
Het |
| Atxn1l |
C |
T |
8: 110,458,462 (GRCm39) |
G600D |
probably damaging |
Het |
| Brd3 |
A |
T |
2: 27,352,558 (GRCm39) |
M124K |
probably benign |
Het |
| Bsx |
A |
G |
9: 40,785,484 (GRCm39) |
N4S |
probably damaging |
Het |
| Ccdc125 |
T |
C |
13: 100,814,552 (GRCm39) |
I44T |
probably benign |
Het |
| Ccdc141 |
G |
A |
2: 76,879,963 (GRCm39) |
T620I |
probably benign |
Het |
| Ccdc178 |
T |
A |
18: 22,157,809 (GRCm39) |
I550F |
probably benign |
Het |
| Ccdc77 |
G |
T |
6: 120,318,962 (GRCm39) |
T163N |
probably damaging |
Het |
| Cd55 |
A |
T |
1: 130,380,273 (GRCm39) |
I235K |
probably benign |
Het |
| Cdc123 |
A |
T |
2: 5,826,174 (GRCm39) |
M118K |
possibly damaging |
Het |
| Cep192 |
A |
T |
18: 67,951,958 (GRCm39) |
K378* |
probably null |
Het |
| Chd7 |
C |
T |
4: 8,850,812 (GRCm39) |
R1733C |
probably damaging |
Het |
| Cyp2d26 |
A |
G |
15: 82,676,907 (GRCm39) |
|
probably benign |
Het |
| D430041D05Rik |
A |
G |
2: 104,085,299 (GRCm39) |
|
probably null |
Het |
| Dyrk2 |
A |
T |
10: 118,696,922 (GRCm39) |
V112E |
probably benign |
Het |
| Eppk1 |
A |
G |
15: 75,994,598 (GRCm39) |
L761P |
probably benign |
Het |
| Evpl |
T |
C |
11: 116,114,489 (GRCm39) |
K1067R |
probably benign |
Het |
| Fancm |
C |
A |
12: 65,171,947 (GRCm39) |
D1862E |
probably damaging |
Het |
| Fhl2 |
A |
G |
1: 43,167,571 (GRCm39) |
V174A |
probably damaging |
Het |
| Gemin4 |
A |
T |
11: 76,102,656 (GRCm39) |
C702S |
probably damaging |
Het |
| Ggnbp2 |
T |
A |
11: 84,760,767 (GRCm39) |
D10V |
possibly damaging |
Het |
| Glul |
T |
C |
1: 153,778,769 (GRCm39) |
V26A |
probably benign |
Het |
| Gml2 |
A |
G |
15: 74,696,089 (GRCm39) |
N161S |
probably benign |
Het |
| Gnao1 |
C |
A |
8: 94,682,795 (GRCm39) |
T327K |
probably damaging |
Het |
| Gpr179 |
A |
G |
11: 97,227,124 (GRCm39) |
V1677A |
possibly damaging |
Het |
| Greb1l |
A |
T |
18: 10,544,450 (GRCm39) |
H1348L |
probably benign |
Het |
| Grm8 |
T |
C |
6: 28,126,030 (GRCm39) |
H32R |
probably benign |
Het |
| Hk2 |
T |
A |
6: 82,716,627 (GRCm39) |
M302L |
probably benign |
Het |
| Hnrnpm |
C |
A |
17: 33,877,884 (GRCm39) |
M333I |
probably benign |
Het |
| Hsd3b1 |
A |
G |
3: 98,760,223 (GRCm39) |
I256T |
probably damaging |
Het |
| Irx5 |
G |
A |
8: 93,087,327 (GRCm39) |
G420R |
probably damaging |
Het |
| Krt87 |
A |
G |
15: 101,331,901 (GRCm39) |
V279A |
probably benign |
Het |
| Lamb2 |
G |
A |
9: 108,363,365 (GRCm39) |
S848N |
probably benign |
Het |
| Lypd10 |
A |
T |
7: 24,413,203 (GRCm39) |
H174L |
probably benign |
Het |
| Mc1r |
A |
T |
8: 124,135,116 (GRCm39) |
T290S |
probably benign |
Het |
| Or10d4 |
A |
T |
9: 39,580,376 (GRCm39) |
T8S |
probably benign |
Het |
| Or52n2c |
A |
T |
7: 104,574,146 (GRCm39) |
V275D |
probably benign |
Het |
| Or52z1 |
A |
T |
7: 103,436,729 (GRCm39) |
C252S |
possibly damaging |
Het |
| Or6c202 |
T |
A |
10: 128,996,233 (GRCm39) |
T207S |
probably damaging |
Het |
| Pex6 |
T |
C |
17: 47,022,975 (GRCm39) |
S184P |
probably damaging |
Het |
| Pglyrp3 |
A |
T |
3: 91,933,762 (GRCm39) |
S136C |
probably null |
Het |
| Pik3r1 |
A |
G |
13: 101,894,062 (GRCm39) |
S36P |
probably benign |
Het |
| Pomt2 |
G |
T |
12: 87,156,790 (GRCm39) |
T782K |
probably benign |
Het |
| Ppfibp2 |
A |
G |
7: 107,285,063 (GRCm39) |
|
probably benign |
Het |
| Prdm9 |
T |
C |
17: 15,765,019 (GRCm39) |
H587R |
probably damaging |
Het |
| Prp2 |
A |
G |
6: 132,576,932 (GRCm39) |
Q73R |
unknown |
Het |
| Psmb4 |
T |
C |
3: 94,793,435 (GRCm39) |
N149D |
probably benign |
Het |
| Ptprj |
A |
T |
2: 90,301,481 (GRCm39) |
I217N |
possibly damaging |
Het |
| Rasal3 |
A |
G |
17: 32,611,736 (GRCm39) |
F797S |
possibly damaging |
Het |
| Rsrp1 |
T |
A |
4: 134,652,610 (GRCm39) |
M188K |
probably damaging |
Het |
| Senp8 |
A |
G |
9: 59,644,499 (GRCm39) |
I219T |
probably damaging |
Het |
| Serpinb10 |
A |
T |
1: 107,468,630 (GRCm39) |
N91I |
probably damaging |
Het |
| Skint4 |
C |
T |
4: 111,975,264 (GRCm39) |
R75C |
probably damaging |
Het |
| Slc25a48 |
C |
A |
13: 56,612,825 (GRCm39) |
A241E |
probably damaging |
Het |
| Slc39a6 |
C |
A |
18: 24,736,811 (GRCm39) |
|
probably benign |
Het |
| Smarcc1 |
G |
A |
9: 110,002,972 (GRCm39) |
R354H |
probably damaging |
Het |
| Spata21 |
G |
C |
4: 140,838,755 (GRCm39) |
|
probably null |
Het |
| Sptbn2 |
A |
G |
19: 4,796,724 (GRCm39) |
E1774G |
possibly damaging |
Het |
| Tep1 |
A |
T |
14: 51,082,894 (GRCm39) |
F1038Y |
possibly damaging |
Het |
| Thbs2 |
T |
A |
17: 14,899,963 (GRCm39) |
D638V |
probably benign |
Het |
| Tmem161a |
G |
T |
8: 70,627,047 (GRCm39) |
C33F |
probably damaging |
Het |
| Trim47 |
T |
C |
11: 116,000,926 (GRCm39) |
S41G |
probably benign |
Het |
| Trim56 |
T |
A |
5: 137,143,429 (GRCm39) |
H29L |
probably benign |
Het |
| Ugt2b35 |
T |
A |
5: 87,156,064 (GRCm39) |
H385Q |
probably damaging |
Het |
| Ugt2b37 |
T |
A |
5: 87,390,243 (GRCm39) |
H401L |
probably benign |
Het |
| Usp44 |
A |
C |
10: 93,682,365 (GRCm39) |
T272P |
probably damaging |
Het |
| Usp46 |
C |
T |
5: 74,189,897 (GRCm39) |
E156K |
probably benign |
Het |
| Vmn1r232 |
T |
C |
17: 21,134,109 (GRCm39) |
K164E |
probably benign |
Het |
| Zan |
T |
A |
5: 137,385,217 (GRCm39) |
N5072I |
unknown |
Het |
| Zfp318 |
T |
C |
17: 46,723,576 (GRCm39) |
S1860P |
probably benign |
Het |
| Zfp616 |
C |
T |
11: 73,975,710 (GRCm39) |
R660W |
probably benign |
Het |
| Zfp870 |
C |
T |
17: 33,102,679 (GRCm39) |
V217I |
possibly damaging |
Het |
|
| Other mutations in Crybg2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01083:Crybg2
|
APN |
4 |
133,802,755 (GRCm39) |
missense |
possibly damaging |
0.57 |
|
IGL01147:Crybg2
|
APN |
4 |
133,816,575 (GRCm39) |
splice site |
probably null |
|
|
IGL02003:Crybg2
|
APN |
4 |
133,799,767 (GRCm39) |
missense |
probably benign |
|
|
IGL02468:Crybg2
|
APN |
4 |
133,809,898 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0089:Crybg2
|
UTSW |
4 |
133,808,505 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0414:Crybg2
|
UTSW |
4 |
133,799,947 (GRCm39) |
small deletion |
probably benign |
|
|
R0579:Crybg2
|
UTSW |
4 |
133,800,049 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R0634:Crybg2
|
UTSW |
4 |
133,802,615 (GRCm39) |
splice site |
probably benign |
|
|
R0638:Crybg2
|
UTSW |
4 |
133,801,765 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0686:Crybg2
|
UTSW |
4 |
133,801,837 (GRCm39) |
small deletion |
probably benign |
|
|
R1583:Crybg2
|
UTSW |
4 |
133,808,770 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1651:Crybg2
|
UTSW |
4 |
133,802,214 (GRCm39) |
missense |
probably benign |
0.07 |
|
R1651:Crybg2
|
UTSW |
4 |
133,802,136 (GRCm39) |
missense |
possibly damaging |
0.84 |
|
R1752:Crybg2
|
UTSW |
4 |
133,800,961 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R1883:Crybg2
|
UTSW |
4 |
133,801,594 (GRCm39) |
nonsense |
probably null |
|
|
R1903:Crybg2
|
UTSW |
4 |
133,806,167 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2042:Crybg2
|
UTSW |
4 |
133,814,844 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R2081:Crybg2
|
UTSW |
4 |
133,816,131 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
R2229:Crybg2
|
UTSW |
4 |
133,801,837 (GRCm39) |
small deletion |
probably benign |
|
|
R2321:Crybg2
|
UTSW |
4 |
133,801,822 (GRCm39) |
missense |
probably benign |
0.38 |
|
R2392:Crybg2
|
UTSW |
4 |
133,799,925 (GRCm39) |
missense |
probably benign |
0.01 |
|
R2939:Crybg2
|
UTSW |
4 |
133,809,745 (GRCm39) |
missense |
possibly damaging |
0.46 |
|
R2940:Crybg2
|
UTSW |
4 |
133,809,745 (GRCm39) |
missense |
possibly damaging |
0.46 |
|
R3028:Crybg2
|
UTSW |
4 |
133,801,095 (GRCm39) |
missense |
probably benign |
0.19 |
|
R4458:Crybg2
|
UTSW |
4 |
133,802,205 (GRCm39) |
missense |
probably benign |
0.32 |
|
R4487:Crybg2
|
UTSW |
4 |
133,801,512 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4680:Crybg2
|
UTSW |
4 |
133,800,029 (GRCm39) |
frame shift |
probably null |
|
|
R4681:Crybg2
|
UTSW |
4 |
133,800,029 (GRCm39) |
frame shift |
probably null |
|
|
R4682:Crybg2
|
UTSW |
4 |
133,800,029 (GRCm39) |
frame shift |
probably null |
|
|
R4766:Crybg2
|
UTSW |
4 |
133,816,663 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5079:Crybg2
|
UTSW |
4 |
133,801,564 (GRCm39) |
missense |
possibly damaging |
0.83 |
|
R5291:Crybg2
|
UTSW |
4 |
133,800,738 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5453:Crybg2
|
UTSW |
4 |
133,806,147 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R5711:Crybg2
|
UTSW |
4 |
133,809,938 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R5834:Crybg2
|
UTSW |
4 |
133,801,434 (GRCm39) |
missense |
probably benign |
0.12 |
|
R5969:Crybg2
|
UTSW |
4 |
133,803,003 (GRCm39) |
splice site |
probably null |
|
|
R5976:Crybg2
|
UTSW |
4 |
133,801,837 (GRCm39) |
small deletion |
probably benign |
|
|
R6022:Crybg2
|
UTSW |
4 |
133,801,584 (GRCm39) |
nonsense |
probably null |
|
|
R6046:Crybg2
|
UTSW |
4 |
133,819,388 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6088:Crybg2
|
UTSW |
4 |
133,803,101 (GRCm39) |
splice site |
probably null |
|
|
R6196:Crybg2
|
UTSW |
4 |
133,808,450 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6246:Crybg2
|
UTSW |
4 |
133,816,657 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R6303:Crybg2
|
UTSW |
4 |
133,814,898 (GRCm39) |
missense |
possibly damaging |
0.66 |
|
R6320:Crybg2
|
UTSW |
4 |
133,808,737 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6354:Crybg2
|
UTSW |
4 |
133,818,447 (GRCm39) |
missense |
probably benign |
0.39 |
|
R6737:Crybg2
|
UTSW |
4 |
133,800,001 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6744:Crybg2
|
UTSW |
4 |
133,816,207 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6847:Crybg2
|
UTSW |
4 |
133,792,857 (GRCm39) |
missense |
probably benign |
0.40 |
|
R6891:Crybg2
|
UTSW |
4 |
133,809,148 (GRCm39) |
missense |
probably benign |
0.32 |
|
R7043:Crybg2
|
UTSW |
4 |
133,818,447 (GRCm39) |
missense |
probably benign |
0.39 |
|
R7133:Crybg2
|
UTSW |
4 |
133,792,754 (GRCm39) |
missense |
probably benign |
0.09 |
|
R7166:Crybg2
|
UTSW |
4 |
133,788,193 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R7412:Crybg2
|
UTSW |
4 |
133,801,434 (GRCm39) |
missense |
probably benign |
0.12 |
|
R7711:Crybg2
|
UTSW |
4 |
133,792,844 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7745:Crybg2
|
UTSW |
4 |
133,816,156 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R7782:Crybg2
|
UTSW |
4 |
133,801,137 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7871:Crybg2
|
UTSW |
4 |
133,814,910 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7943:Crybg2
|
UTSW |
4 |
133,800,295 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R8008:Crybg2
|
UTSW |
4 |
133,818,415 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8017:Crybg2
|
UTSW |
4 |
133,800,484 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R8292:Crybg2
|
UTSW |
4 |
133,802,842 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8391:Crybg2
|
UTSW |
4 |
133,803,035 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R8510:Crybg2
|
UTSW |
4 |
133,800,670 (GRCm39) |
missense |
probably benign |
|
|
R8535:Crybg2
|
UTSW |
4 |
133,808,514 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8789:Crybg2
|
UTSW |
4 |
133,801,554 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8870:Crybg2
|
UTSW |
4 |
133,818,525 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
R9052:Crybg2
|
UTSW |
4 |
133,803,035 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R9071:Crybg2
|
UTSW |
4 |
133,818,542 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9088:Crybg2
|
UTSW |
4 |
133,799,890 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R9154:Crybg2
|
UTSW |
4 |
133,792,620 (GRCm39) |
missense |
probably benign |
0.02 |
|
R9440:Crybg2
|
UTSW |
4 |
133,801,602 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9540:Crybg2
|
UTSW |
4 |
133,816,225 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R9606:Crybg2
|
UTSW |
4 |
133,801,383 (GRCm39) |
nonsense |
probably null |
|
|
R9641:Crybg2
|
UTSW |
4 |
133,816,620 (GRCm39) |
nonsense |
probably null |
|
|
R9719:Crybg2
|
UTSW |
4 |
133,793,148 (GRCm39) |
missense |
probably benign |
0.01 |
|
R9734:Crybg2
|
UTSW |
4 |
133,801,962 (GRCm39) |
missense |
probably benign |
0.00 |
|
X0064:Crybg2
|
UTSW |
4 |
133,816,587 (GRCm39) |
missense |
probably damaging |
0.98 |
|
Z1176:Crybg2
|
UTSW |
4 |
133,809,971 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- CCACGGTGGTTTATGGAGTC -3'
(R):5'- TCCTTCTGACACAGAGACGAG -3'
Sequencing Primer
(F):5'- TTTATGGAGTCAGAAGCGACTCC -3'
(R):5'- AGACGAGTGTGTACGGGCTC -3'
|
| Posted On |
2021-04-30 |
Incidental Mutation