Incidental Mutation 'IGL02627:2610301B20Rik'
ID301127
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol 2610301B20Rik
Ensembl Gene ENSMUSG00000059482
Gene NameRIKEN cDNA 2610301B20 gene
Synonyms
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.110) question?
Stock #IGL02627
Quality Score
Status
Chromosome4
Chromosomal Location10874498-10899425 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) G to A at 10898039 bp
ZygosityHeterozygous
Amino Acid Change Cysteine to Tyrosine at position 207 (C207Y)
Ref Sequence ENSEMBL: ENSMUSP00000103966 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000080517] [ENSMUST00000101504]
Predicted Effect probably damaging
Transcript: ENSMUST00000080517
AA Change: C206Y

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000079361
Gene: ENSMUSG00000059482
AA Change: C206Y

DomainStartEndE-ValueType
low complexity region 32 42 N/A INTRINSIC
Pfam:RMP 64 209 4.2e-59 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000101504
AA Change: C207Y

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000103966
Gene: ENSMUSG00000059482
AA Change: C207Y

DomainStartEndE-ValueType
low complexity region 32 42 N/A INTRINSIC
Pfam:RMP 64 210 1.3e-59 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000131437
Predicted Effect noncoding transcript
Transcript: ENSMUST00000156124
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a ubiquitously expressed protein of unknown function. It has high levels of mRNA expression in the brain, heart, and retina and the protein co-localizes with polyglutamylated tubulin at the base of the primary cilium in human retinal pigment epithelial cells. Mutations in this gene have been associated with autosomal recessive cone-rod dystrophy (arCRD) and retinitis pigmentosa (arRP). [provided by RefSeq, Mar 2012]
Allele List at MGI
Other mutations in this stock
Total: 28 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700001O22Rik T A 2: 30,795,765 K353M probably damaging Het
Arhgap32 T C 9: 32,246,006 Y100H probably damaging Het
Cdc45 C T 16: 18,798,729 M200I probably benign Het
Ckap5 A T 2: 91,576,021 N752I probably damaging Het
Dgkz T A 2: 91,938,710 probably benign Het
Egfr T A 11: 16,869,346 V292E probably damaging Het
Gnb3 T C 6: 124,834,715 T329A probably damaging Het
Igkv3-2 A T 6: 70,698,826 T40S probably damaging Het
Kcnq2 T C 2: 181,082,327 probably benign Het
Mbip T C 12: 56,335,805 Q292R probably benign Het
Mgat5b T C 11: 116,983,616 Y625H probably damaging Het
Ms4a4d A T 19: 11,548,623 E40D probably damaging Het
Naip1 T C 13: 100,425,648 E1003G possibly damaging Het
Ncf2 G A 1: 152,811,008 probably benign Het
Nfkbiz A G 16: 55,816,351 V529A probably damaging Het
Osr2 A G 15: 35,300,454 N52S possibly damaging Het
Prag1 A G 8: 36,139,439 D778G possibly damaging Het
Rsl1d1 G T 16: 11,194,551 A337E possibly damaging Het
Sall3 A T 18: 80,972,361 L784Q possibly damaging Het
Spen A G 4: 141,473,015 I2744T probably damaging Het
Tfip11 A C 5: 112,329,813 S145R possibly damaging Het
Tonsl T C 15: 76,634,095 D559G probably damaging Het
Trmt5 A T 12: 73,281,455 S325T probably damaging Het
Ubr1 A T 2: 120,940,991 V472D probably damaging Het
Vmn1r30 T A 6: 58,435,761 T29S probably benign Het
Vps29 T C 5: 122,362,845 S158P probably benign Het
Wdr82 T C 9: 106,176,687 V79A possibly damaging Het
Wfdc16 T A 2: 164,638,463 E37D possibly damaging Het
Other mutations in 2610301B20Rik
AlleleSourceChrCoordTypePredicted EffectPPH Score
R0919:2610301B20Rik UTSW 4 10882462 missense probably benign 0.01
R1695:2610301B20Rik UTSW 4 10874644 missense probably damaging 1.00
R3804:2610301B20Rik UTSW 4 10898014 missense probably benign 0.02
R6721:2610301B20Rik UTSW 4 10874744 missense probably benign 0.19
R7033:2610301B20Rik UTSW 4 10898014 missense probably benign 0.02
R7409:2610301B20Rik UTSW 4 10881834 missense probably benign
R8278:2610301B20Rik UTSW 4 10882474 critical splice donor site probably null
X0064:2610301B20Rik UTSW 4 10881832 missense probably damaging 0.96
Posted On2015-04-16