Incidental Mutation 'IGL01735:Rsph14'
ID105668
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Rsph14
Ensembl Gene ENSMUSG00000009070
Gene Nameradial spoke head homolog 14 (Chlamydomonas)
Synonyms4933431K05Rik, Rtdr1
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.117) question?
Stock #IGL01735
Quality Score
Status
Chromosome10
Chromosomal Location74957477-75032586 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) C to A at 75025160 bp
ZygosityHeterozygous
Amino Acid Change Glycine to Cysteine at position 103 (G103C)
Ref Sequence ENSEMBL: ENSMUSP00000125669 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000009214] [ENSMUST00000159994] [ENSMUST00000160072] [ENSMUST00000160450] [ENSMUST00000166088] [ENSMUST00000179546]
Predicted Effect probably damaging
Transcript: ENSMUST00000009214
AA Change: G103C

PolyPhen 2 Score 0.987 (Sensitivity: 0.73; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000009214
Gene: ENSMUSG00000009070
AA Change: G103C

DomainStartEndE-ValueType
Pfam:HEAT_2 28 133 9.9e-8 PFAM
ARM 138 178 3.18e1 SMART
ARM 218 258 1.88e0 SMART
ARM 259 300 3.32e-1 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000159761
Predicted Effect probably damaging
Transcript: ENSMUST00000159994
AA Change: G103C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000125669
Gene: ENSMUSG00000009070
AA Change: G103C

DomainStartEndE-ValueType
Pfam:HEAT_2 28 133 2.8e-8 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000160072
AA Change: G103C

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000123760
Gene: ENSMUSG00000009070
AA Change: G103C

DomainStartEndE-ValueType
Pfam:HEAT_2 28 133 1.6e-8 PFAM
Blast:ARM 138 161 2e-7 BLAST
Predicted Effect probably damaging
Transcript: ENSMUST00000160450
AA Change: G103C

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000125289
Gene: ENSMUSG00000009070
AA Change: G103C

DomainStartEndE-ValueType
Pfam:HEAT_2 28 133 4.1e-8 PFAM
Blast:ARM 138 178 3e-19 BLAST
Predicted Effect probably damaging
Transcript: ENSMUST00000166088
AA Change: G136C

PolyPhen 2 Score 0.987 (Sensitivity: 0.73; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000131632
Gene: ENSMUSG00000009070
AA Change: G136C

DomainStartEndE-ValueType
Blast:ARM 48 88 1e-7 BLAST
Blast:ARM 89 129 3e-16 BLAST
ARM 171 211 3.18e1 SMART
ARM 251 291 1.88e0 SMART
ARM 292 333 3.32e-1 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000179546
AA Change: G103C

PolyPhen 2 Score 0.987 (Sensitivity: 0.73; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000136715
Gene: ENSMUSG00000009070
AA Change: G103C

DomainStartEndE-ValueType
Pfam:HEAT_2 28 133 9.9e-8 PFAM
ARM 138 178 3.18e1 SMART
ARM 218 258 1.88e0 SMART
ARM 259 300 3.32e-1 SMART
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 protein with no known function but with slight similarity to a yeast vacuolar protein. The gene is located in a region deleted in pediatric rhabdoid tumors of the brain, kidney and soft tissues, but mutations in this gene have not been associated with the disease. [provided by RefSeq, Jul 2008]
Allele List at MGI
Other mutations in this stock
Total: 32 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adcy3 A T 12: 4,201,213 M612L probably benign Het
Adhfe1 C A 1: 9,548,148 T19K possibly damaging Het
Atxn1 C T 13: 45,566,722 V566M probably damaging Het
Bag6 T C 17: 35,145,761 probably benign Het
Cdkl1 T G 12: 69,750,740 Y258S probably benign Het
Chil6 A T 3: 106,388,688 probably null Het
Clcn7 T C 17: 25,151,116 F326L probably benign Het
Cngb3 A G 4: 19,415,648 Y386C probably damaging Het
Dnah6 C A 6: 73,076,660 E2916* probably null Het
Dnhd1 A G 7: 105,713,754 E3841G probably benign Het
Fat1 G T 8: 45,036,239 V3493L probably benign Het
Gm13103 A G 4: 143,851,831 I220M probably damaging Het
Irx5 A T 8: 92,360,703 H421L probably damaging Het
Kbtbd6 T C 14: 79,453,449 V465A probably damaging Het
Kcp T A 6: 29,498,879 N340I probably damaging Het
Klhdc2 A G 12: 69,300,279 M73V probably benign Het
Lpar1 A G 4: 58,437,407 S341P probably damaging Het
Lrba G A 3: 86,327,661 V838I probably benign Het
Med12l A G 3: 59,263,254 I1652V probably damaging Het
Myo5c A T 9: 75,301,438 D1677V probably damaging Het
Ncoa2 A T 1: 13,164,903 N935K probably benign Het
Nfrkb T C 9: 31,410,139 S711P possibly damaging Het
Olfr1140 A G 2: 87,746,306 I37V probably benign Het
Olfr352 C A 2: 36,869,686 T40K possibly damaging Het
Olfr608 T C 7: 103,470,323 F95L probably damaging Het
Prl7d1 A G 13: 27,714,389 F47L possibly damaging Het
Ptprd A C 4: 76,136,820 probably null Het
Slco1a4 A G 6: 141,817,751 F413S probably benign Het
Slfn9 A G 11: 82,982,332 Y582H probably damaging Het
Tcirg1 A T 19: 3,904,210 probably benign Het
Trac G A 14: 54,222,981 probably benign Het
Wbp2nl G T 15: 82,313,816 V185L probably benign Het
Other mutations in Rsph14
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00952:Rsph14 APN 10 75029769 missense probably benign 0.01
IGL01809:Rsph14 APN 10 74957786 splice site probably benign
IGL02534:Rsph14 APN 10 74957634 missense probably damaging 0.97
R1215:Rsph14 UTSW 10 75025066 missense probably benign 0.27
R2060:Rsph14 UTSW 10 75029771 missense probably damaging 1.00
R2163:Rsph14 UTSW 10 74957779 missense probably damaging 1.00
R3777:Rsph14 UTSW 10 74957587 missense possibly damaging 0.87
R3777:Rsph14 UTSW 10 74957588 missense possibly damaging 0.66
R3778:Rsph14 UTSW 10 74957587 missense possibly damaging 0.87
R3778:Rsph14 UTSW 10 74957588 missense possibly damaging 0.66
R3844:Rsph14 UTSW 10 75031275 missense possibly damaging 0.93
R5787:Rsph14 UTSW 10 74957628 missense possibly damaging 0.62
R6044:Rsph14 UTSW 10 75031270 missense probably benign 0.44
R6232:Rsph14 UTSW 10 74961688 missense probably benign 0.00
X0023:Rsph14 UTSW 10 74961721 missense probably benign 0.10
Posted On2014-01-21