Incidental Mutation 'R4578:Crybg3'
ID 343447
Institutional Source Beutler Lab
Gene Symbol Crybg3
Ensembl Gene ENSMUSG00000022723
Gene Name beta-gamma crystallin domain containing 3
Synonyms Gm9581
MMRRC Submission 041800-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.138) question?
Stock # R4578 (G1)
Quality Score 225
Status Not validated
Chromosome 16
Chromosomal Location 59312451-59421410 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 59350564 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Cysteine to Tyrosine at position 892 (C892Y)
Ref Sequence ENSEMBL: ENSMUSP00000037682 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000044604] [ENSMUST00000172910]
AlphaFold no structure available at present
Predicted Effect probably damaging
Transcript: ENSMUST00000044604
AA Change: C892Y

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000037682
Gene: ENSMUSG00000022723
AA Change: C892Y

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 noncoding transcript
Transcript: ENSMUST00000129350
Predicted Effect noncoding transcript
Transcript: ENSMUST00000129762
Predicted Effect probably damaging
Transcript: ENSMUST00000172910
AA Change: C2606Y

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
Predicted Effect probably benign
Transcript: ENSMUST00000232544
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.2%
  • 20x: 95.2%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 70 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930522L14Rik A T 5: 109,884,537 (GRCm39) Y440* probably null Het
Aldh3b3 A T 19: 4,014,832 (GRCm39) T110S probably benign Het
Atp2b2 T C 6: 113,737,672 (GRCm39) T901A probably damaging Het
Auts2 C T 5: 132,287,773 (GRCm39) G70E probably benign Het
Bfar A T 16: 13,505,307 (GRCm39) I106F probably benign Het
Btbd10 T G 7: 112,921,959 (GRCm39) I301L possibly damaging Het
Card14 G A 11: 119,217,567 (GRCm39) R400H probably benign Het
Ccdc80 A G 16: 44,915,849 (GRCm39) R202G probably damaging Het
Cimip2a T C 2: 25,110,300 (GRCm39) S71P probably benign Het
Cmtm7 A C 9: 114,592,351 (GRCm39) I82S probably benign Het
Cngb3 T A 4: 19,425,613 (GRCm39) W474R probably damaging Het
Coq9 T C 8: 95,580,234 (GRCm39) V285A probably benign Het
Cp A G 3: 20,028,052 (GRCm39) E486G probably damaging Het
Cttn A T 7: 144,008,453 (GRCm39) F176L probably damaging Het
Cytip T A 2: 58,050,024 (GRCm39) N15I possibly damaging Het
Dgkb A G 12: 38,477,492 (GRCm39) E634G possibly damaging Het
Duox1 A G 2: 122,164,258 (GRCm39) E906G probably benign Het
Efcab6 A T 15: 83,817,369 (GRCm39) S735T probably benign Het
Elfn1 T C 5: 139,957,808 (GRCm39) S271P probably benign Het
Ep300 T C 15: 81,533,210 (GRCm39) S1756P unknown Het
Ep300 T A 15: 81,495,611 (GRCm39) probably benign Het
Ercc5 T A 1: 44,187,308 (GRCm39) V29E probably benign Het
Frmd4a C A 2: 4,608,490 (GRCm39) A786E possibly damaging Het
Ftcd A C 10: 76,425,092 (GRCm39) E524D probably benign Het
Gfod2 T C 8: 106,454,878 (GRCm39) M1V probably null Het
Gm12790 T C 4: 101,825,324 (GRCm39) D30G probably benign Het
Gsta4 A T 9: 78,113,302 (GRCm39) R127S probably benign Het
Hcn2 G A 10: 79,560,282 (GRCm39) probably null Het
Hectd1 A G 12: 51,798,715 (GRCm39) V2135A probably damaging Het
Hoxc6 A G 15: 102,918,093 (GRCm39) D19G probably benign Het
Hydin A T 8: 110,993,971 (GRCm39) T2S unknown Het
Ifna14 A T 4: 88,489,747 (GRCm39) S97T possibly damaging Het
Igkv17-127 T C 6: 67,838,183 (GRCm39) L14P unknown Het
Il17rb A G 14: 29,724,356 (GRCm39) V166A probably damaging Het
Iqca1 T A 1: 90,001,472 (GRCm39) I520F probably damaging Het
Kcnv2 G T 19: 27,300,994 (GRCm39) V282L probably benign Het
Klk12 A G 7: 43,422,667 (GRCm39) D198G probably damaging Het
Kntc1 T G 5: 123,904,018 (GRCm39) L345R probably damaging Het
Lrfn5 A G 12: 61,890,763 (GRCm39) D684G probably benign Het
Mef2a T C 7: 66,890,187 (GRCm39) N131S probably benign Het
Mis18bp1 T C 12: 65,200,655 (GRCm39) Y124C probably damaging Het
Mplkipl1 C T 19: 61,164,364 (GRCm39) G24R unknown Het
Myh2 T A 11: 67,064,084 (GRCm39) V48D possibly damaging Het
Nat10 A G 2: 103,584,417 (GRCm39) M120T probably damaging Het
Nf1 T C 11: 79,336,585 (GRCm39) S1065P probably damaging Het
Nfib A T 4: 82,215,048 (GRCm39) S518R probably damaging Het
Pced1a A C 2: 130,264,596 (GRCm39) L78R probably damaging Het
Peli3 T C 19: 4,984,486 (GRCm39) D192G probably benign Het
Plb1 C T 5: 32,404,901 (GRCm39) Q20* probably null Het
Pomgnt2 G A 9: 121,812,131 (GRCm39) R217C probably damaging Het
Ptprd C T 4: 76,162,023 (GRCm39) V78I possibly damaging Het
Rngtt A G 4: 33,339,050 (GRCm39) E285G probably benign Het
Sclt1 G A 3: 41,625,900 (GRCm39) Q356* probably null Het
Scn2b T C 9: 45,037,460 (GRCm39) F169S possibly damaging Het
Sfta2 C T 17: 35,960,775 (GRCm39) probably benign Het
Srpra T C 9: 35,125,904 (GRCm39) I394T possibly damaging Het
Sspo A C 6: 48,440,307 (GRCm39) D1541A possibly damaging Het
Strc G A 2: 121,208,484 (GRCm39) L296F possibly damaging Het
Svop C T 5: 114,203,743 (GRCm39) V13M probably damaging Het
Taf6l C A 19: 8,761,335 (GRCm39) R10L possibly damaging Het
Tbx3 G T 5: 119,820,841 (GRCm39) R617L probably damaging Het
Tnrc6a A G 7: 122,783,444 (GRCm39) R1471G possibly damaging Het
Togaram1 T C 12: 65,067,100 (GRCm39) L1714P probably damaging Het
Traf3ip2 A G 10: 39,510,650 (GRCm39) N308D probably damaging Het
Trim30b T C 7: 104,006,538 (GRCm39) Y106C possibly damaging Het
Vcp A T 4: 42,984,565 (GRCm39) M442K probably benign Het
Vmn2r16 A T 5: 109,511,665 (GRCm39) Y624F possibly damaging Het
Vmn2r52 A T 7: 9,904,617 (GRCm39) H407Q probably damaging Het
Vps13a A T 19: 16,659,474 (GRCm39) D1684E probably damaging Het
Wdr49 T C 3: 75,242,550 (GRCm39) M380V 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
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
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
Predicted Primers PCR Primer
(F):5'- TGATTCATCAGGAGCACCAAGC -3'
(R):5'- TTGGCAGCGAGACAAGATC -3'

Sequencing Primer
(F):5'- ACAACATGAGGCGCTGTTTTC -3'
(R):5'- TCCATTCACGTGAAGAGTGG -3'
Posted On 2015-09-24