Incidental Mutation 'IGL03202:Crybg3'
ID 413029
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Crybg3
Ensembl Gene ENSMUSG00000022723
Gene Name beta-gamma crystallin domain containing 3
Synonyms Gm9581
Accession Numbers
Essential gene? Probably non essential (E-score: 0.138) question?
Stock # IGL03202
Quality Score
Status
Chromosome 16
Chromosomal Location 59312451-59421410 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 59315072 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Phenylalanine at position 2910 (I2910F)
Ref Sequence ENSEMBL: ENSMUSP00000156047 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000023407] [ENSMUST00000044604] [ENSMUST00000120674] [ENSMUST00000160571] [ENSMUST00000172910]
AlphaFold no structure available at present
Predicted Effect probably benign
Transcript: ENSMUST00000023407
SMART Domains Protein: ENSMUSP00000023407
Gene: ENSMUSG00000022724

DomainStartEndE-ValueType
JmjC 127 273 1.33e-2 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000044604
AA Change: I1196F

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000037682
Gene: ENSMUSG00000022723
AA Change: I1196F

DomainStartEndE-ValueType
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 probably benign
Transcript: ENSMUST00000120674
SMART Domains Protein: ENSMUSP00000112899
Gene: ENSMUSG00000022724

DomainStartEndE-ValueType
JmjC 127 273 1.33e-2 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000129762
Predicted Effect noncoding transcript
Transcript: ENSMUST00000131272
Predicted Effect probably benign
Transcript: ENSMUST00000160571
SMART Domains Protein: ENSMUSP00000125297
Gene: ENSMUSG00000022724

DomainStartEndE-ValueType
JmjC 127 273 1.33e-2 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000172910
AA Change: I2910F

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Predicted Effect unknown
Transcript: ENSMUST00000232544
AA Change: I221F
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 35 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700113H08Rik T C 10: 86,909,911 (GRCm39) M1T probably null Het
Ace T A 11: 105,867,788 (GRCm39) I168N probably damaging Het
Actr10 T G 12: 70,987,605 (GRCm39) C37W probably damaging Het
Atp10b T C 11: 43,125,268 (GRCm39) probably null Het
Bend5 A G 4: 111,290,441 (GRCm39) N146D possibly damaging Het
Cacna1b A G 2: 24,541,124 (GRCm39) F1347L probably damaging Het
Cspg4 T C 9: 56,805,023 (GRCm39) S1945P possibly damaging Het
Cxcr4 T G 1: 128,516,641 (GRCm39) K340T probably damaging Het
Dnah6 T A 6: 73,121,683 (GRCm39) Y1433F probably damaging Het
Eif2ak4 T C 2: 118,231,101 (GRCm39) V77A probably damaging Het
Fscn3 A T 6: 28,434,451 (GRCm39) H342L probably benign Het
Gm9843 T C 16: 76,200,234 (GRCm39) noncoding transcript Het
Hdac9 T C 12: 34,423,950 (GRCm39) E520G probably damaging Het
Itm2b G A 14: 73,603,229 (GRCm39) P120L probably damaging Het
Itpa T A 2: 130,509,859 (GRCm39) probably benign Het
Lce1l A T 3: 92,757,631 (GRCm39) C76S unknown Het
Lin54 A G 5: 100,623,673 (GRCm39) S55P possibly damaging Het
Lrrc37 T A 11: 103,506,199 (GRCm39) E1923V probably benign Het
Mtfmt C A 9: 65,356,008 (GRCm39) P303Q probably damaging Het
Nae1 A T 8: 105,244,811 (GRCm39) probably benign Het
Ncapd3 T A 9: 26,983,011 (GRCm39) probably benign Het
Or13a19 A G 7: 139,903,019 (GRCm39) M136V possibly damaging Het
Or1e22 G A 11: 73,377,351 (GRCm39) Q100* probably null Het
Pcnx2 A C 8: 126,498,783 (GRCm39) I1572S probably damaging Het
Piezo2 A T 18: 63,144,669 (GRCm39) Y2809N probably damaging Het
Pygl G T 12: 70,246,420 (GRCm39) Q376K probably benign Het
Resf1 G A 6: 149,227,937 (GRCm39) V328I probably benign Het
Rrp12 T C 19: 41,857,205 (GRCm39) probably null Het
Sephs1 A T 2: 4,894,074 (GRCm39) I92F possibly damaging Het
Taar4 T C 10: 23,836,692 (GRCm39) F101L probably damaging Het
Tenm2 A G 11: 35,915,375 (GRCm39) I2053T probably damaging Het
Tgfbr3 T G 5: 107,257,630 (GRCm39) probably benign Het
Vmn2r108 A T 17: 20,691,319 (GRCm39) Y401* probably null Het
Vmn2r87 A G 10: 130,333,091 (GRCm39) M53T probably benign Het
Zfp941 A G 7: 140,392,966 (GRCm39) V131A probably benign Het
Other mutations in Crybg3
AlleleSourceChrCoordTypePredicted EffectPPH 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
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
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
Posted On 2016-08-02