Incidental Mutation 'IGL02627:2610301B20Rik'
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Institutional Source Australian Phenomics Network (link to record)
Gene Symbol 2610301B20Rik
Ensembl Gene ENSMUSG00000059482
Gene NameRIKEN cDNA 2610301B20 gene
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.084) question?
Stock #IGL02627
Quality Score
Chromosomal Location10874498-10899425 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) G to A at 10898039 bp
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

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

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