Incidental Mutation 'IGL02584:Cryga'
ID299484
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Cryga
Ensembl Gene ENSMUSG00000044429
Gene Namecrystallin, gamma A
SynonymsCryg-4, DGcry-4
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL02584
Quality Score
Status
Chromosome1
Chromosomal Location65100389-65103373 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to A at 65103016 bp
ZygosityHeterozygous
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]
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: 89,174,856 Y22F unknown Het
Adgrb3 A G 1: 25,504,984 L312P probably damaging Het
Anpep T C 7: 79,825,393 probably benign Het
Arhgef6 T G X: 57,246,378 probably benign Het
Catsperg1 T C 7: 29,184,721 D989G probably damaging Het
Ccnj T A 19: 40,844,741 V121E probably benign Het
Cdyl T C 13: 35,683,786 L15P probably benign Het
Cnrip1 T A 11: 17,078,536 M156K probably damaging Het
Dennd4a A G 9: 64,851,298 T240A probably damaging Het
Eml6 A G 11: 29,749,387 S1789P probably damaging Het
Esr2 A T 12: 76,145,262 W331R probably damaging Het
Fbxo18 A T 2: 11,759,958 L455H probably benign Het
Gm21698 T A 5: 25,987,393 E65V probably damaging Het
Grm8 G T 6: 27,762,439 F262L probably benign Het
Haus3 A T 5: 34,166,258 L336* probably null Het
Hfm1 A C 5: 106,878,662 probably null Het
Hgfac T C 5: 35,043,961 probably benign Het
Ighv1-22 T C 12: 114,746,322 E101G probably benign Het
Impg2 A G 16: 56,265,011 E1027G probably damaging Het
Lypd5 A T 7: 24,353,568 T217S possibly damaging Het
Myrf A G 19: 10,212,223 probably benign Het
Mzf1 A G 7: 13,052,817 W109R probably damaging Het
Ndufb4 A T 16: 37,649,170 probably benign Het
Ntn1 A G 11: 68,277,530 V367A probably damaging Het
Olfr1029 C T 2: 85,975,875 L211F probably damaging Het
Oprk1 A G 1: 5,598,604 K91R probably damaging Het
Pdlim1 A G 19: 40,243,400 probably null Het
Ppp1r11 G A 17: 36,949,889 R61C probably damaging Het
Racgap1 T C 15: 99,623,634 D547G probably benign Het
Sema4b A G 7: 80,224,988 T709A probably benign Het
Srrm1 G A 4: 135,325,104 P658L unknown Het
Supt5 T C 7: 28,326,167 H218R probably benign Het
Tmem132c T A 5: 127,504,999 I426N probably damaging Het
Tpcn1 T C 5: 120,539,032 N696S probably damaging Het
Ttn T C 2: 76,736,162 N26383S possibly damaging Het
Vax2 A G 6: 83,711,513 T73A probably benign Het
Zfp518a G A 19: 40,914,617 G997R probably damaging Het
Other mutations in Cryga
AlleleSourceChrCoordTypePredicted EffectPPH Score
R0022:Cryga UTSW 1 65103223 missense probably damaging 0.97
R0448:Cryga UTSW 1 65103159 missense probably benign 0.16
R0457:Cryga UTSW 1 65103045 missense probably damaging 1.00
R1742:Cryga UTSW 1 65103121 missense probably benign 0.38
R4427:Cryga UTSW 1 65100616 missense probably damaging 1.00
R5860:Cryga UTSW 1 65103368 unclassified probably benign
R6267:Cryga UTSW 1 65103010 missense probably benign
R6372:Cryga UTSW 1 65103045 missense probably damaging 1.00
R7272:Cryga UTSW 1 65103222 missense probably damaging 1.00
Posted On2015-04-16