Incidental Mutation 'IGL02584:Cryga'
ID 299484
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Cryga
Ensembl Gene ENSMUSG00000044429
Gene Name crystallin, gamma A
Synonyms DGcry-4, Cryg-4, Secc
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # IGL02584
Quality Score
Status
Chromosome 1
Chromosomal Location 65139552-65142532 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 65142175 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Cysteine at position 73 (S73C)
Ref Sequence ENSEMBL: ENSMUSP00000058548 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000050047] [ENSMUST00000061497] [ENSMUST00000144760] [ENSMUST00000148020]
AlphaFold P04345
Predicted Effect probably benign
Transcript: ENSMUST00000050047
SMART Domains Protein: ENSMUSP00000056196
Gene: ENSMUSG00000044816

DomainStartEndE-ValueType
low complexity region 165 179 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000061497
AA Change: S73C

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
SMART Domains Protein: ENSMUSP00000058548
Gene: ENSMUSG00000044429
AA Change: S73C

DomainStartEndE-ValueType
XTALbg 3 82 2.52e-47 SMART
XTALbg 89 170 3.59e-43 SMART
Predicted Effect silent
Transcript: ENSMUST00000144760
SMART Domains Protein: ENSMUSP00000140504
Gene: ENSMUSG00000100846

DomainStartEndE-ValueType
low complexity region 97 111 N/A INTRINSIC
low complexity region 124 150 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000148020
SMART Domains Protein: ENSMUSP00000120090
Gene: ENSMUSG00000044816

DomainStartEndE-ValueType
low complexity region 159 173 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000154012
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: Three main families of major soluble proteins, the alpha, beta and gamma crystallins, are ubiquitously expressed in vertebrate lenses. This gene encodes a member of the gamma-crystallin family of proteins which may function as a structural component of the eye lens. Gamma-crystallins are a homogeneous group of highly symmetrical, monomeric proteins typically lacking connecting peptides and terminal extensions. They are differentially regulated after early development. Five gamma-crystallin genes (gamma-A through gamma-E) are tandemly organized in a genomic segment as a gene cluster in the mouse. Another gamma-crystallin gene (gamma-F) is found some distance upstream of the cluster on the same chromosome. Whether due to aging or mutations in specific genes, gamma-crystallins have been involved in cataract formation. [provided by RefSeq, Jul 2008]
PHENOTYPE: Heterozygotes for an ethylnitrosourea-induced replacement mutation exhibit a diffuse nuclear opacity of the lens. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 37 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1110057P08Rik A T 16: 88,971,744 (GRCm39) Y22F unknown Het
Adgrb3 A G 1: 25,544,065 (GRCm39) L312P probably damaging Het
Anpep T C 7: 79,475,141 (GRCm39) probably benign Het
Arhgef6 T G X: 56,291,738 (GRCm39) probably benign Het
Catsperg1 T C 7: 28,884,146 (GRCm39) D989G probably damaging Het
Ccnj T A 19: 40,833,185 (GRCm39) V121E probably benign Het
Cdyl T C 13: 35,867,769 (GRCm39) L15P probably benign Het
Cnrip1 T A 11: 17,028,536 (GRCm39) M156K probably damaging Het
Dennd4a A G 9: 64,758,580 (GRCm39) T240A probably damaging Het
Eml6 A G 11: 29,699,387 (GRCm39) S1789P probably damaging Het
Esr2 A T 12: 76,192,036 (GRCm39) W331R probably damaging Het
Fbh1 A T 2: 11,764,769 (GRCm39) L455H probably benign Het
Gm21698 T A 5: 26,192,391 (GRCm39) E65V probably damaging Het
Grm8 G T 6: 27,762,438 (GRCm39) F262L probably benign Het
Haus3 A T 5: 34,323,602 (GRCm39) L336* probably null Het
Hfm1 A C 5: 107,026,528 (GRCm39) probably null Het
Hgfac T C 5: 35,201,305 (GRCm39) probably benign Het
Ighv1-22 T C 12: 114,709,942 (GRCm39) E101G probably benign Het
Impg2 A G 16: 56,085,374 (GRCm39) E1027G probably damaging Het
Lypd5 A T 7: 24,052,993 (GRCm39) T217S possibly damaging Het
Myrf A G 19: 10,189,587 (GRCm39) probably benign Het
Mzf1 A G 7: 12,786,744 (GRCm39) W109R probably damaging Het
Ndufb4 A T 16: 37,469,532 (GRCm39) probably benign Het
Ntn1 A G 11: 68,168,356 (GRCm39) V367A probably damaging Het
Oprk1 A G 1: 5,668,827 (GRCm39) K91R probably damaging Het
Or5m11b C T 2: 85,806,219 (GRCm39) L211F probably damaging Het
Pdlim1 A G 19: 40,231,844 (GRCm39) probably null Het
Ppp1r11 G A 17: 37,260,781 (GRCm39) R61C probably damaging Het
Racgap1 T C 15: 99,521,515 (GRCm39) D547G probably benign Het
Sema4b A G 7: 79,874,736 (GRCm39) T709A probably benign Het
Srrm1 G A 4: 135,052,415 (GRCm39) P658L unknown Het
Supt5 T C 7: 28,025,592 (GRCm39) H218R probably benign Het
Tmem132c T A 5: 127,582,063 (GRCm39) I426N probably damaging Het
Tpcn1 T C 5: 120,677,097 (GRCm39) N696S probably damaging Het
Ttn T C 2: 76,566,506 (GRCm39) N26383S possibly damaging Het
Vax2 A G 6: 83,688,495 (GRCm39) T73A probably benign Het
Zfp518a G A 19: 40,903,061 (GRCm39) G997R probably damaging Het
Other mutations in Cryga
AlleleSourceChrCoordTypePredicted EffectPPH Score
R0022:Cryga UTSW 1 65,142,382 (GRCm39) missense probably damaging 0.97
R0448:Cryga UTSW 1 65,142,318 (GRCm39) missense probably benign 0.16
R0457:Cryga UTSW 1 65,142,204 (GRCm39) missense probably damaging 1.00
R1742:Cryga UTSW 1 65,142,280 (GRCm39) missense probably benign 0.38
R4427:Cryga UTSW 1 65,139,775 (GRCm39) missense probably damaging 1.00
R5860:Cryga UTSW 1 65,142,527 (GRCm39) unclassified probably benign
R6267:Cryga UTSW 1 65,142,169 (GRCm39) missense probably benign
R6372:Cryga UTSW 1 65,142,204 (GRCm39) missense probably damaging 1.00
R7272:Cryga UTSW 1 65,142,381 (GRCm39) missense probably damaging 1.00
R8909:Cryga UTSW 1 65,142,173 (GRCm39) missense probably benign 0.42
R9158:Cryga UTSW 1 65,142,198 (GRCm39) missense probably benign 0.02
Posted On 2015-04-16