Incidental Mutation 'R5860:Crybg3'
ID |
453871 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Crybg3
|
Ensembl Gene |
ENSMUSG00000022723 |
Gene Name |
beta-gamma crystallin domain containing 3 |
Synonyms |
Gm9581 |
MMRRC Submission |
044072-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.138)
|
Stock # |
R5860 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
16 |
Chromosomal Location |
59312451-59421410 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to C
at 59385632 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Aspartic acid to Glutamic Acid
at position 197
(D197E)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000156047
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000172910]
|
AlphaFold |
no structure available at present |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000172910
AA Change: D197E
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
Meta Mutation Damage Score |
0.0999 |
Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.4%
- 10x: 97.1%
- 20x: 90.8%
|
Validation Efficiency |
97% (75/77) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 69 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4930568A12Rik |
A |
G |
1: 34,524,661 (GRCm39) |
|
noncoding transcript |
Het |
A2ml1 |
T |
C |
6: 128,518,024 (GRCm39) |
T1421A |
probably benign |
Het |
Actr8 |
T |
A |
14: 29,708,242 (GRCm39) |
Y150* |
probably null |
Het |
Adamts1 |
A |
G |
16: 85,595,432 (GRCm39) |
C249R |
probably damaging |
Het |
Adgre1 |
T |
A |
17: 57,752,034 (GRCm39) |
I594N |
probably damaging |
Het |
Atf6 |
A |
T |
1: 170,669,344 (GRCm39) |
L119H |
probably damaging |
Het |
Atf6 |
G |
A |
1: 170,669,345 (GRCm39) |
L119F |
possibly damaging |
Het |
B3gat2 |
G |
A |
1: 23,854,400 (GRCm39) |
W33* |
probably null |
Het |
Bach2 |
A |
G |
4: 32,580,268 (GRCm39) |
D831G |
probably damaging |
Het |
Ccnk |
A |
T |
12: 108,153,466 (GRCm39) |
I76F |
probably damaging |
Het |
Cdyl |
A |
C |
13: 36,042,066 (GRCm39) |
K368T |
possibly damaging |
Het |
Chi3l1 |
A |
G |
1: 134,112,909 (GRCm39) |
T114A |
probably benign |
Het |
Cnppd1 |
A |
G |
1: 75,113,131 (GRCm39) |
V379A |
probably benign |
Het |
Col11a2 |
C |
A |
17: 34,283,159 (GRCm39) |
|
probably benign |
Het |
Creb3l1 |
T |
C |
2: 91,854,399 (GRCm39) |
S18G |
probably benign |
Het |
Cryga |
T |
C |
1: 65,142,527 (GRCm39) |
|
probably benign |
Het |
Cthrc1 |
T |
C |
15: 38,950,080 (GRCm39) |
C146R |
probably damaging |
Het |
Cyp2c39 |
A |
T |
19: 39,525,270 (GRCm39) |
D191V |
probably damaging |
Het |
Dchs1 |
C |
T |
7: 105,421,242 (GRCm39) |
A393T |
probably damaging |
Het |
Dhx30 |
G |
A |
9: 109,913,645 (GRCm39) |
T1126I |
probably damaging |
Het |
Dock2 |
C |
T |
11: 34,206,562 (GRCm39) |
G1345R |
probably damaging |
Het |
Dsc1 |
T |
C |
18: 20,228,081 (GRCm39) |
E425G |
probably damaging |
Het |
Dynlt2b |
A |
G |
16: 32,247,614 (GRCm39) |
Y143C |
probably damaging |
Het |
Exosc8 |
C |
T |
3: 54,642,463 (GRCm39) |
|
probably benign |
Het |
Fat1 |
C |
T |
8: 45,504,166 (GRCm39) |
A4553V |
probably benign |
Het |
Flnb |
T |
A |
14: 7,931,135 (GRCm38) |
L2119Q |
probably damaging |
Het |
Fnbp4 |
T |
A |
2: 90,587,826 (GRCm39) |
D401E |
probably benign |
Het |
Glyctk |
T |
C |
9: 106,032,906 (GRCm39) |
E369G |
possibly damaging |
Het |
Gm14149 |
C |
A |
2: 151,066,225 (GRCm39) |
|
noncoding transcript |
Het |
Golga4 |
T |
C |
9: 118,387,174 (GRCm39) |
L1432P |
probably damaging |
Het |
Gtpbp4 |
A |
T |
13: 9,023,196 (GRCm39) |
S623T |
probably benign |
Het |
Insc |
A |
C |
7: 114,390,383 (GRCm39) |
S85R |
probably damaging |
Het |
Lgr4 |
G |
A |
2: 109,821,496 (GRCm39) |
R126H |
probably damaging |
Het |
M1ap |
T |
A |
6: 82,980,795 (GRCm39) |
L227Q |
probably damaging |
Het |
Marchf7 |
T |
C |
2: 60,067,187 (GRCm39) |
I569T |
probably damaging |
Het |
Mbd1 |
C |
A |
18: 74,409,768 (GRCm39) |
C339* |
probably null |
Het |
Moxd2 |
T |
A |
6: 40,857,341 (GRCm39) |
Y473F |
probably damaging |
Het |
Mrgpra6 |
T |
C |
7: 46,839,099 (GRCm39) |
H2R |
probably benign |
Het |
Mtus1 |
T |
G |
8: 41,529,303 (GRCm39) |
L742F |
probably damaging |
Het |
Nek11 |
A |
G |
9: 105,270,160 (GRCm39) |
Y21H |
probably benign |
Het |
Notch4 |
G |
T |
17: 34,801,392 (GRCm39) |
C1080F |
probably damaging |
Het |
Nsd3 |
C |
A |
8: 26,156,107 (GRCm39) |
P558Q |
probably damaging |
Het |
Oas1e |
A |
T |
5: 120,930,015 (GRCm39) |
S168T |
probably benign |
Het |
Ogfr |
T |
C |
2: 180,234,285 (GRCm39) |
S119P |
probably damaging |
Het |
Or2y15 |
A |
G |
11: 49,350,563 (GRCm39) |
D19G |
probably damaging |
Het |
Or8g20 |
T |
A |
9: 39,395,767 (GRCm39) |
M261L |
probably benign |
Het |
Pde4dip |
A |
G |
3: 97,631,504 (GRCm39) |
I1135T |
possibly damaging |
Het |
Prex1 |
G |
A |
2: 166,486,604 (GRCm39) |
|
probably benign |
Het |
Ptprf |
T |
C |
4: 118,068,486 (GRCm39) |
|
probably benign |
Het |
Rapsn |
T |
C |
2: 90,875,859 (GRCm39) |
V359A |
probably damaging |
Het |
Ric1 |
A |
G |
19: 29,577,245 (GRCm39) |
S1050G |
possibly damaging |
Het |
Rnft2 |
A |
G |
5: 118,366,868 (GRCm39) |
I290T |
possibly damaging |
Het |
Senp7 |
C |
A |
16: 55,975,722 (GRCm39) |
A476E |
possibly damaging |
Het |
Serpinh1 |
G |
A |
7: 98,995,571 (GRCm39) |
S337L |
probably damaging |
Het |
Slc5a12 |
C |
A |
2: 110,427,969 (GRCm39) |
A8D |
probably benign |
Het |
Smg5 |
T |
A |
3: 88,250,214 (GRCm39) |
C109S |
probably damaging |
Het |
Speer4b |
T |
C |
5: 27,705,226 (GRCm39) |
H49R |
possibly damaging |
Het |
Tas2r109 |
T |
C |
6: 132,957,664 (GRCm39) |
I89V |
probably benign |
Het |
Tet1 |
A |
G |
10: 62,648,399 (GRCm39) |
|
probably null |
Het |
Tmed6 |
G |
T |
8: 107,790,786 (GRCm39) |
T87K |
probably damaging |
Het |
Tpgs1 |
G |
A |
10: 79,505,545 (GRCm39) |
G101D |
probably damaging |
Het |
Trim13 |
T |
G |
14: 61,842,188 (GRCm39) |
S68R |
probably damaging |
Het |
Vwf |
A |
G |
6: 125,620,053 (GRCm39) |
N1577S |
|
Het |
Vwf |
G |
T |
6: 125,656,228 (GRCm39) |
|
probably benign |
Het |
Xpr1 |
T |
C |
1: 155,207,868 (GRCm39) |
|
probably benign |
Het |
Ylpm1 |
C |
T |
12: 85,087,660 (GRCm39) |
P1148L |
probably damaging |
Het |
Zftraf1 |
A |
T |
15: 76,532,391 (GRCm39) |
I239N |
probably damaging |
Het |
Zftraf1 |
T |
C |
15: 76,540,615 (GRCm39) |
Y101C |
probably damaging |
Het |
Zscan29 |
G |
T |
2: 120,994,518 (GRCm39) |
T489N |
probably damaging |
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 |
R5763:Crybg3
|
UTSW |
16 |
59,374,973 (GRCm39) |
missense |
possibly damaging |
0.74 |
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'- GCAGTGGCACTAGACTATTACAG -3'
(R):5'- TCGGGAAAGTCGTCTCTTGG -3'
Sequencing Primer
(F):5'- GTGGCACTAGACTATTACAGACTAC -3'
(R):5'- GAGAGGTTAAGCAGTCTTCCTTC -3'
|
Posted On |
2017-02-10 |