Incidental Mutation 'R5763:Crybg3'
| ID |
446148 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Crybg3
|
| Ensembl Gene |
ENSMUSG00000022723 |
| Gene Name |
beta-gamma crystallin domain containing 3 |
| Synonyms |
Gm9581 |
| MMRRC Submission |
043364-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.143)
|
| Stock # |
R5763 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
16 |
| Chromosomal Location |
59312451-59421410 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 59374973 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Proline
at position 2094
(S2094P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000156047
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000044604]
[ENSMUST00000139989]
[ENSMUST00000172910]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000044604
AA Change: S380P
PolyPhen 2
Score 0.254 (Sensitivity: 0.91; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000037682
Gene: ENSMUSG00000022723
AA Change: S380P
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
258 |
273 |
N/A |
INTRINSIC |
|
low complexity region
|
282 |
290 |
N/A |
INTRINSIC |
|
XTALbg
|
430 |
516 |
2.78e-4 |
SMART |
|
Pfam:Crystall
|
536 |
599 |
3.3e-7 |
PFAM |
|
XTALbg
|
614 |
699 |
1.2e-21 |
SMART |
|
XTALbg
|
707 |
790 |
5.73e-19 |
SMART |
|
XTALbg
|
803 |
881 |
6.87e-5 |
SMART |
|
XTALbg
|
889 |
969 |
1.28e-7 |
SMART |
|
RICIN
|
972 |
1104 |
8.16e-14 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000139989
|
| SMART Domains |
Protein: ENSMUSP00000122663
Gene: ENSMUSG00000022723
| Domain | Start | End | E-Value | Type |
|---|
|
XTALbg
|
1 |
86 |
2.15e-3 |
SMART |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000172910
AA Change: S2094P
PolyPhen 2
Score 0.742 (Sensitivity: 0.85; Specificity: 0.92)
|
| Meta Mutation Damage Score |
0.1795 |
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.8%
- 10x: 97.5%
- 20x: 95.9%
|
| Validation Efficiency |
97% (70/72) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 65 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| AA986860 |
A |
G |
1: 130,670,768 (GRCm39) |
H330R |
possibly damaging |
Het |
| Acot11 |
C |
T |
4: 106,617,327 (GRCm39) |
G240R |
probably damaging |
Het |
| Actl6b |
T |
A |
5: 137,565,063 (GRCm39) |
L314Q |
possibly damaging |
Het |
| Adam22 |
A |
T |
5: 8,184,544 (GRCm39) |
C483S |
probably damaging |
Het |
| Adamts7 |
T |
A |
9: 90,070,462 (GRCm39) |
L601H |
probably damaging |
Het |
| Agl |
A |
T |
3: 116,547,009 (GRCm39) |
D1280E |
probably damaging |
Het |
| Ankrd60 |
TGGCCACGCGG |
TGG |
2: 173,419,882 (GRCm39) |
|
probably null |
Het |
| Astn2 |
T |
A |
4: 65,647,568 (GRCm39) |
M757L |
probably benign |
Het |
| Atr |
A |
G |
9: 95,827,176 (GRCm39) |
M2407V |
probably benign |
Het |
| Brca2 |
T |
C |
5: 150,471,471 (GRCm39) |
F2283L |
possibly damaging |
Het |
| Brwd1 |
A |
T |
16: 95,835,043 (GRCm39) |
Y940* |
probably null |
Het |
| Camk2g |
A |
T |
14: 20,789,415 (GRCm39) |
N218K |
probably damaging |
Het |
| Ces2a |
C |
T |
8: 105,462,756 (GRCm39) |
P115L |
probably benign |
Het |
| Col11a1 |
T |
C |
3: 113,888,245 (GRCm39) |
|
probably benign |
Het |
| Col1a2 |
T |
A |
6: 4,515,682 (GRCm39) |
D150E |
unknown |
Het |
| Cttnbp2 |
T |
C |
6: 18,414,298 (GRCm39) |
N916D |
probably benign |
Het |
| Ddx24 |
A |
G |
12: 103,383,673 (GRCm39) |
F593L |
probably damaging |
Het |
| Dhx16 |
G |
A |
17: 36,192,580 (GRCm39) |
E171K |
possibly damaging |
Het |
| Dnah5 |
T |
C |
15: 28,311,298 (GRCm39) |
I1759T |
probably damaging |
Het |
| Dnah9 |
C |
A |
11: 65,846,065 (GRCm39) |
S2991I |
probably damaging |
Het |
| Entpd7 |
G |
T |
19: 43,692,705 (GRCm39) |
V87L |
probably damaging |
Het |
| Fam221a |
T |
G |
6: 49,355,518 (GRCm39) |
L207V |
probably damaging |
Het |
| Foxm1 |
T |
A |
6: 128,343,071 (GRCm39) |
I135N |
probably benign |
Het |
| Gabpa |
C |
A |
16: 84,657,297 (GRCm39) |
Q391K |
possibly damaging |
Het |
| Gipr |
T |
A |
7: 18,897,475 (GRCm39) |
H111L |
probably damaging |
Het |
| Gmip |
A |
G |
8: 70,270,501 (GRCm39) |
D737G |
probably damaging |
Het |
| Herc6 |
T |
A |
6: 57,639,872 (GRCm39) |
N995K |
probably damaging |
Het |
| Ldha |
G |
A |
7: 46,497,213 (GRCm39) |
|
probably benign |
Het |
| Lrrc37 |
G |
A |
11: 103,504,469 (GRCm39) |
P324S |
probably damaging |
Het |
| Masp1 |
T |
C |
16: 23,314,997 (GRCm39) |
E88G |
probably damaging |
Het |
| Mical2 |
G |
A |
7: 111,973,861 (GRCm39) |
|
probably null |
Het |
| Mill1 |
T |
A |
7: 17,979,587 (GRCm39) |
V18E |
probably benign |
Het |
| Mrgpra3 |
A |
T |
7: 47,239,355 (GRCm39) |
C190* |
probably null |
Het |
| Nog |
C |
T |
11: 89,192,291 (GRCm39) |
V186M |
probably damaging |
Het |
| Nrxn2 |
T |
C |
19: 6,581,369 (GRCm39) |
F392L |
probably benign |
Het |
| Or11h7 |
T |
C |
14: 50,891,525 (GRCm39) |
I277T |
possibly damaging |
Het |
| Or12j3 |
T |
A |
7: 139,953,568 (GRCm39) |
|
probably null |
Het |
| Or1e33 |
T |
A |
11: 73,738,693 (GRCm39) |
Q86L |
probably benign |
Het |
| Or4a79 |
T |
A |
2: 89,552,372 (GRCm39) |
M28L |
probably benign |
Het |
| Or7c74 |
T |
C |
2: 37,161,025 (GRCm39) |
|
noncoding transcript |
Het |
| Phyhd1 |
T |
A |
2: 30,169,983 (GRCm39) |
D158E |
probably damaging |
Het |
| Pik3r4 |
G |
T |
9: 105,546,974 (GRCm39) |
K917N |
probably benign |
Het |
| Pnma1 |
A |
G |
12: 84,194,124 (GRCm39) |
V193A |
possibly damaging |
Het |
| Podxl2 |
T |
C |
6: 88,826,805 (GRCm39) |
E167G |
probably damaging |
Het |
| Prss50 |
A |
T |
9: 110,691,517 (GRCm39) |
K82* |
probably null |
Het |
| Qsox1 |
A |
G |
1: 155,655,625 (GRCm39) |
S513P |
probably benign |
Het |
| Rheb |
A |
G |
5: 25,012,785 (GRCm39) |
V98A |
probably benign |
Het |
| Rhoj |
A |
G |
12: 75,438,606 (GRCm39) |
I131V |
probably benign |
Het |
| Rsph4a |
A |
T |
10: 33,781,684 (GRCm39) |
D178V |
probably damaging |
Het |
| Setd2 |
T |
G |
9: 110,385,343 (GRCm39) |
|
probably null |
Het |
| Siglecf |
A |
T |
7: 43,005,744 (GRCm39) |
K434* |
probably null |
Het |
| Slc14a1 |
T |
C |
18: 78,159,629 (GRCm39) |
Y88C |
probably benign |
Het |
| Snx15 |
T |
C |
19: 6,172,140 (GRCm39) |
E89G |
probably damaging |
Het |
| Son |
C |
T |
16: 91,454,378 (GRCm39) |
R1042C |
probably damaging |
Het |
| Srsf11 |
C |
T |
3: 157,728,981 (GRCm39) |
|
probably benign |
Het |
| Suz12 |
C |
A |
11: 79,916,134 (GRCm39) |
Y457* |
probably null |
Het |
| Tet1 |
T |
A |
10: 62,675,847 (GRCm39) |
N743I |
probably damaging |
Het |
| Tmc6 |
A |
G |
11: 117,660,259 (GRCm39) |
F660L |
possibly damaging |
Het |
| Tnpo1 |
A |
C |
13: 98,996,445 (GRCm39) |
I452S |
possibly damaging |
Het |
| Trav4-3 |
G |
T |
14: 53,836,844 (GRCm39) |
G103V |
probably damaging |
Het |
| Ubap2 |
T |
C |
4: 41,195,809 (GRCm39) |
K994E |
probably damaging |
Het |
| Vmn2r14 |
T |
C |
5: 109,363,724 (GRCm39) |
T731A |
possibly damaging |
Het |
| Vmn2r52 |
T |
A |
7: 9,905,231 (GRCm39) |
I203L |
probably benign |
Het |
| Zfp663 |
G |
T |
2: 165,200,355 (GRCm39) |
S75* |
probably null |
Het |
| Zik1 |
G |
T |
7: 10,226,293 (GRCm39) |
H25N |
probably benign |
Het |
|
| Other mutations in Crybg3 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00516:Crybg3
|
APN |
16 |
59,350,803 (GRCm39) |
missense |
probably benign |
0.15 |
|
IGL01305:Crybg3
|
APN |
16 |
59,349,590 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01809:Crybg3
|
APN |
16 |
59,345,216 (GRCm39) |
critical splice donor site |
probably benign |
0.00 |
|
IGL02247:Crybg3
|
APN |
16 |
59,323,513 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02252:Crybg3
|
APN |
16 |
59,372,887 (GRCm39) |
splice site |
probably benign |
|
|
IGL03036:Crybg3
|
APN |
16 |
59,375,542 (GRCm39) |
missense |
possibly damaging |
0.68 |
|
IGL03202:Crybg3
|
APN |
16 |
59,315,072 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03232:Crybg3
|
APN |
16 |
59,350,731 (GRCm39) |
missense |
probably damaging |
1.00 |
|
ANU22:Crybg3
|
UTSW |
16 |
59,349,590 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0052:Crybg3
|
UTSW |
16 |
59,386,019 (GRCm39) |
splice site |
probably benign |
|
|
R0335:Crybg3
|
UTSW |
16 |
59,364,503 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0691:Crybg3
|
UTSW |
16 |
59,385,574 (GRCm39) |
critical splice donor site |
probably null |
|
|
R1511:Crybg3
|
UTSW |
16 |
59,374,475 (GRCm39) |
missense |
probably benign |
0.01 |
|
R1579:Crybg3
|
UTSW |
16 |
59,350,561 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1965:Crybg3
|
UTSW |
16 |
59,323,600 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1982:Crybg3
|
UTSW |
16 |
59,364,488 (GRCm39) |
missense |
possibly damaging |
0.85 |
|
R2225:Crybg3
|
UTSW |
16 |
59,375,041 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4074:Crybg3
|
UTSW |
16 |
59,376,120 (GRCm39) |
unclassified |
probably benign |
|
|
R4210:Crybg3
|
UTSW |
16 |
59,364,414 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4393:Crybg3
|
UTSW |
16 |
59,380,458 (GRCm39) |
unclassified |
probably benign |
|
|
R4394:Crybg3
|
UTSW |
16 |
59,380,458 (GRCm39) |
unclassified |
probably benign |
|
|
R4397:Crybg3
|
UTSW |
16 |
59,380,458 (GRCm39) |
unclassified |
probably benign |
|
|
R4427:Crybg3
|
UTSW |
16 |
59,363,562 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4578:Crybg3
|
UTSW |
16 |
59,350,564 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4720:Crybg3
|
UTSW |
16 |
59,360,180 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4917:Crybg3
|
UTSW |
16 |
59,350,782 (GRCm39) |
missense |
probably benign |
0.14 |
|
R5007:Crybg3
|
UTSW |
16 |
59,378,463 (GRCm39) |
unclassified |
probably benign |
|
|
R5020:Crybg3
|
UTSW |
16 |
59,375,159 (GRCm39) |
missense |
possibly damaging |
0.55 |
|
R5155:Crybg3
|
UTSW |
16 |
59,345,264 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R5306:Crybg3
|
UTSW |
16 |
59,380,356 (GRCm39) |
unclassified |
probably benign |
|
|
R5342:Crybg3
|
UTSW |
16 |
59,342,512 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5687:Crybg3
|
UTSW |
16 |
59,379,529 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5860:Crybg3
|
UTSW |
16 |
59,385,632 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5950:Crybg3
|
UTSW |
16 |
59,313,934 (GRCm39) |
unclassified |
probably benign |
|
|
R6007:Crybg3
|
UTSW |
16 |
59,374,837 (GRCm39) |
nonsense |
probably null |
|
|
R6042:Crybg3
|
UTSW |
16 |
59,370,838 (GRCm39) |
missense |
possibly damaging |
0.70 |
|
R6049:Crybg3
|
UTSW |
16 |
59,364,417 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6242:Crybg3
|
UTSW |
16 |
59,376,053 (GRCm39) |
missense |
probably benign |
|
|
R6301:Crybg3
|
UTSW |
16 |
59,350,701 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6408:Crybg3
|
UTSW |
16 |
59,316,053 (GRCm39) |
missense |
possibly damaging |
0.71 |
|
R6724:Crybg3
|
UTSW |
16 |
59,364,501 (GRCm39) |
missense |
probably benign |
0.13 |
|
R6745:Crybg3
|
UTSW |
16 |
59,372,607 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R6777:Crybg3
|
UTSW |
16 |
59,378,678 (GRCm39) |
unclassified |
probably benign |
|
|
R6843:Crybg3
|
UTSW |
16 |
59,380,159 (GRCm39) |
missense |
probably benign |
0.22 |
|
R6914:Crybg3
|
UTSW |
16 |
59,360,183 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R6942:Crybg3
|
UTSW |
16 |
59,360,183 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R7033:Crybg3
|
UTSW |
16 |
59,374,528 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7091:Crybg3
|
UTSW |
16 |
59,377,531 (GRCm39) |
missense |
possibly damaging |
0.77 |
|
R7133:Crybg3
|
UTSW |
16 |
59,357,167 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7193:Crybg3
|
UTSW |
16 |
59,379,956 (GRCm39) |
missense |
possibly damaging |
0.87 |
|
R7204:Crybg3
|
UTSW |
16 |
59,379,253 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7398:Crybg3
|
UTSW |
16 |
59,377,688 (GRCm39) |
missense |
probably benign |
0.38 |
|
R7666:Crybg3
|
UTSW |
16 |
59,379,700 (GRCm39) |
nonsense |
probably null |
|
|
R7691:Crybg3
|
UTSW |
16 |
59,376,497 (GRCm39) |
missense |
not run |
|
|
R7714:Crybg3
|
UTSW |
16 |
59,379,236 (GRCm39) |
missense |
probably benign |
0.19 |
|
R7860:Crybg3
|
UTSW |
16 |
59,375,605 (GRCm39) |
missense |
probably benign |
0.04 |
|
R7901:Crybg3
|
UTSW |
16 |
59,377,907 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R8371:Crybg3
|
UTSW |
16 |
59,377,414 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8394:Crybg3
|
UTSW |
16 |
59,378,651 (GRCm39) |
missense |
probably benign |
0.06 |
|
R8438:Crybg3
|
UTSW |
16 |
59,385,655 (GRCm39) |
missense |
probably benign |
0.02 |
|
R8529:Crybg3
|
UTSW |
16 |
59,376,984 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R8699:Crybg3
|
UTSW |
16 |
59,375,291 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8766:Crybg3
|
UTSW |
16 |
59,375,696 (GRCm39) |
missense |
probably benign |
0.05 |
|
R8767:Crybg3
|
UTSW |
16 |
59,376,500 (GRCm39) |
missense |
probably benign |
|
|
R8789:Crybg3
|
UTSW |
16 |
59,375,359 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8871:Crybg3
|
UTSW |
16 |
59,378,519 (GRCm39) |
missense |
probably benign |
|
|
R8878:Crybg3
|
UTSW |
16 |
59,380,547 (GRCm39) |
missense |
probably benign |
0.09 |
|
R8894:Crybg3
|
UTSW |
16 |
59,342,552 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R8928:Crybg3
|
UTSW |
16 |
59,376,715 (GRCm39) |
missense |
probably benign |
0.40 |
|
R8928:Crybg3
|
UTSW |
16 |
59,315,123 (GRCm39) |
missense |
probably benign |
0.31 |
|
R8939:Crybg3
|
UTSW |
16 |
59,376,512 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9010:Crybg3
|
UTSW |
16 |
59,374,702 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R9266:Crybg3
|
UTSW |
16 |
59,372,544 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R9348:Crybg3
|
UTSW |
16 |
59,421,256 (GRCm39) |
start codon destroyed |
probably null |
0.66 |
|
R9353:Crybg3
|
UTSW |
16 |
59,421,107 (GRCm39) |
critical splice donor site |
probably null |
|
|
R9406:Crybg3
|
UTSW |
16 |
59,378,839 (GRCm39) |
missense |
probably benign |
0.42 |
|
R9429:Crybg3
|
UTSW |
16 |
59,375,556 (GRCm39) |
missense |
probably benign |
0.08 |
|
R9464:Crybg3
|
UTSW |
16 |
59,376,120 (GRCm39) |
unclassified |
probably benign |
|
|
R9621:Crybg3
|
UTSW |
16 |
59,326,613 (GRCm39) |
missense |
possibly damaging |
0.73 |
|
R9703:Crybg3
|
UTSW |
16 |
59,375,939 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R9751:Crybg3
|
UTSW |
16 |
59,377,887 (GRCm39) |
missense |
possibly damaging |
0.55 |
|
R9766:Crybg3
|
UTSW |
16 |
59,376,207 (GRCm39) |
missense |
probably benign |
0.03 |
|
RF007:Crybg3
|
UTSW |
16 |
59,377,067 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
Z1177:Crybg3
|
UTSW |
16 |
59,376,841 (GRCm39) |
missense |
probably benign |
0.09 |
|
Z1177:Crybg3
|
UTSW |
16 |
59,375,756 (GRCm39) |
nonsense |
probably null |
|
|
Z1187:Crybg3
|
UTSW |
16 |
59,326,608 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- AAATTCCAGCGTGTTCCTGG -3'
(R):5'- TGAGAGCAGAACTGACCTGG -3'
Sequencing Primer
(F):5'- AGTGGAAGGTAACATGCTCCCTC -3'
(R):5'- AGAACTGACCTGGTCCATCATTTTG -3'
|
| Posted On |
2016-11-21 |
Incidental Mutation