Incidental Mutation 'R9393:Cryba4'
ID 710662
Institutional Source Beutler Lab
Gene Symbol Cryba4
Ensembl Gene ENSMUSG00000066975
Gene Name crystallin, beta A4
Synonyms
MMRRC Submission
Accession Numbers
Essential gene? Probably non essential (E-score: 0.092) question?
Stock # R9393 (G1)
Quality Score 225.009
Status Not validated
Chromosome 5
Chromosomal Location 112394359-112400384 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 112394632 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Glycine at position 166 (S166G)
Ref Sequence ENSEMBL: ENSMUSP00000083826 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000086629] [ENSMUST00000112383] [ENSMUST00000112385]
AlphaFold Q9JJV0
Predicted Effect probably benign
Transcript: ENSMUST00000086629
AA Change: S166G

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000083826
Gene: ENSMUSG00000066975
AA Change: S166G

DomainStartEndE-ValueType
XTALbg 13 97 1.08e-37 SMART
XTALbg 106 194 2.59e-35 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000112383
AA Change: S153G

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000108002
Gene: ENSMUSG00000066975
AA Change: S153G

DomainStartEndE-ValueType
XTALbg 1 84 1.71e-35 SMART
XTALbg 93 181 2.59e-35 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000112385
AA Change: S166G

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000108004
Gene: ENSMUSG00000066975
AA Change: S166G

DomainStartEndE-ValueType
XTALbg 13 97 1.08e-37 SMART
XTALbg 106 194 2.59e-35 SMART
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.6%
  • 20x: 98.7%
Validation Efficiency
MGI Phenotype FUNCTION: This gene encodes a member of the crystallin family of proteins that contribute to the transparency and refractive properties of the ocular lens. Certain mutations in the human ortholog of this gene are associated with cataract and bilateral microphthalmia. This gene is located adjacent to a related crystallin gene on chromosome 5. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Aug 2015]
Allele List at MGI
Other mutations in this stock
Total: 74 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A2m A G 6: 121,616,270 (GRCm39) S133G possibly damaging Het
Agps A G 2: 75,735,256 (GRCm39) E567G possibly damaging Het
Ak9 T C 10: 41,285,068 (GRCm39) I1381T unknown Het
Apcdd1 C T 18: 63,055,731 (GRCm39) probably benign Het
Arrb1 T A 7: 99,238,891 (GRCm39) C150S probably damaging Het
Asz1 T C 6: 18,051,330 (GRCm39) I450V probably benign Het
Atp10b A G 11: 43,063,608 (GRCm39) N181S probably damaging Het
Bptf A C 11: 106,965,134 (GRCm39) D1353E probably benign Het
Cacna2d1 T C 5: 16,140,013 (GRCm39) M1T probably null Het
Ccdc106 T A 7: 5,059,200 (GRCm39) I6N possibly damaging Het
Celf6 A T 9: 59,510,525 (GRCm39) Q252L probably benign Het
Colgalt2 A T 1: 152,360,598 (GRCm39) K212* probably null Het
Cyp2w1 A G 5: 139,342,035 (GRCm39) E123G probably benign Het
Cyp4a10 G C 4: 115,382,566 (GRCm39) K285N probably damaging Het
Cyth1 G T 11: 118,074,710 (GRCm39) T197K probably benign Het
Ddhd1 A G 14: 45,894,685 (GRCm39) W262R probably damaging Het
Dnah8 T A 17: 30,872,361 (GRCm39) V450D possibly damaging Het
Eml5 C T 12: 98,842,433 (GRCm39) V222I probably benign Het
Fbxw19 A G 9: 109,324,873 (GRCm39) S15P probably damaging Het
Fhip2b G A 14: 70,831,463 (GRCm39) Q24* probably null Het
Fignl2 C A 15: 100,951,466 (GRCm39) R272L unknown Het
Gm10842 A T 11: 105,037,885 (GRCm39) D56V unknown Het
Gmps T A 3: 63,900,640 (GRCm39) N305K probably benign Het
Gnai1 A T 5: 18,565,055 (GRCm39) L38Q Het
Golim4 A T 3: 75,785,464 (GRCm39) D642E probably benign Het
Gp1ba A T 11: 70,531,293 (GRCm39) Q353L unknown Het
Gpnmb T C 6: 49,024,996 (GRCm39) S343P possibly damaging Het
Hexb G A 13: 97,313,336 (GRCm39) R507* probably null Het
Ifitm10 A T 7: 141,924,704 (GRCm39) V45D probably damaging Het
Khsrp T C 17: 57,330,350 (GRCm39) Y585C probably damaging Het
Kif21a A T 15: 90,853,981 (GRCm39) D795E probably benign Het
Klkb1 A T 8: 45,729,392 (GRCm39) V309E probably benign Het
Krtap9-1 C A 11: 99,764,664 (GRCm39) C133* probably null Het
Krtcap2 T C 3: 89,153,578 (GRCm39) probably benign Het
Lilra5 T C 7: 4,240,758 (GRCm39) M1T probably null Het
Magi1 G A 6: 93,659,890 (GRCm39) T1019I probably benign Het
Mdn1 T A 4: 32,713,825 (GRCm39) H1967Q Het
Mgat4f A G 1: 134,318,596 (GRCm39) D456G probably benign Het
Mroh2b A T 15: 4,980,666 (GRCm39) T1412S probably benign Het
Myh13 A T 11: 67,242,894 (GRCm39) M936L probably benign Het
Nalf2 C T X: 98,889,097 (GRCm39) R321W probably damaging Het
Ncapd3 A G 9: 26,962,682 (GRCm39) T373A possibly damaging Het
Noc2l T C 4: 156,320,784 (GRCm39) probably null Het
Nrg4 C T 9: 55,149,420 (GRCm39) S59N probably benign Het
Nrip1 A G 16: 76,091,353 (GRCm39) V68A probably benign Het
Or11g24 T C 14: 50,662,255 (GRCm39) V93A probably benign Het
Or9k2 T C 10: 129,999,016 (GRCm39) T60A probably benign Het
Pcdhga6 G T 18: 37,840,212 (GRCm39) probably benign Het
Phf20l1 A G 15: 66,475,955 (GRCm39) N196S probably damaging Het
Ppp4r4 T A 12: 103,571,296 (GRCm39) Y787* probably null Het
Psma8 G A 18: 14,839,298 (GRCm39) R4Q probably null Het
Reg4 A G 3: 98,137,168 (GRCm39) K46E probably benign Het
Rnf14 T A 18: 38,442,680 (GRCm39) M327K possibly damaging Het
Rtn1 A T 12: 72,263,586 (GRCm39) Y753* probably null Het
Slc26a11 A G 11: 119,259,627 (GRCm39) R275G probably benign Het
Stard9 A G 2: 120,518,656 (GRCm39) T527A possibly damaging Het
Stk26 C T X: 49,930,618 (GRCm39) probably benign Het
Tas1r1 C T 4: 152,116,413 (GRCm39) C407Y probably damaging Het
Tcstv1b A T 13: 120,634,958 (GRCm39) Y80F probably benign Het
Tenm3 A G 8: 49,127,559 (GRCm39) S40P probably damaging Het
Tespa1 T A 10: 130,183,066 (GRCm39) S4T probably damaging Het
Tlr11 A G 14: 50,599,547 (GRCm39) N511S probably benign Het
Tmprss15 A G 16: 78,754,211 (GRCm39) I1014T probably benign Het
Tpte T A 8: 22,774,990 (GRCm39) M20K probably benign Het
Ttn A G 2: 76,612,390 (GRCm39) V17199A possibly damaging Het
Tubgcp3 A G 8: 12,703,411 (GRCm39) Y305H probably damaging Het
Ubr4 T A 4: 139,212,613 (GRCm39) V5081E unknown Het
Unkl T C 17: 25,448,392 (GRCm39) S322P probably damaging Het
Uqcc6 A G 10: 82,458,475 (GRCm39) S59P unknown Het
Vav3 T A 3: 109,485,682 (GRCm39) probably null Het
Vmn1r76 A G 7: 11,664,765 (GRCm39) S150P probably benign Het
Xpot A G 10: 121,445,600 (GRCm39) probably null Het
Xylt1 A G 7: 117,242,906 (GRCm39) I650V probably benign Het
Zan C A 5: 137,403,682 (GRCm39) A3955S unknown Het
Other mutations in Cryba4
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02088:Cryba4 APN 5 112,398,875 (GRCm39) unclassified probably benign
R0741:Cryba4 UTSW 5 112,394,554 (GRCm39) missense probably damaging 1.00
R5622:Cryba4 UTSW 5 112,398,990 (GRCm39) missense probably damaging 1.00
R5811:Cryba4 UTSW 5 112,398,937 (GRCm39) missense probably benign
R6644:Cryba4 UTSW 5 112,394,628 (GRCm39) missense probably damaging 1.00
R7008:Cryba4 UTSW 5 112,399,648 (GRCm39) missense probably benign
R7554:Cryba4 UTSW 5 112,398,969 (GRCm39) missense probably damaging 0.99
R7556:Cryba4 UTSW 5 112,398,969 (GRCm39) missense probably damaging 0.99
R7671:Cryba4 UTSW 5 112,396,039 (GRCm39) critical splice donor site probably null
R7888:Cryba4 UTSW 5 112,398,918 (GRCm39) missense probably benign 0.01
R9161:Cryba4 UTSW 5 112,396,039 (GRCm39) critical splice donor site probably null
Predicted Primers PCR Primer
(F):5'- TTCCCAGAGGACACAAGGGTAG -3'
(R):5'- AAGAACAGCCTTGGGTGTG -3'

Sequencing Primer
(F):5'- GACACAAGGGTAGCCAGAACC -3'
(R):5'- GTGGGTGTGGAGCTTCC -3'
Posted On 2022-04-18