Incidental Mutation 'IGL02534:Rsph14'
ID297417
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 #IGL02534
Quality Score
Status
Chromosome10
Chromosomal Location74957477-75032586 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) C to A at 74957634 bp
ZygosityHeterozygous
Amino Acid Change Valine to Phenylalanine at position 345 (V345F)
Ref Sequence ENSEMBL: ENSMUSP00000131632 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000009214] [ENSMUST00000160072] [ENSMUST00000160450] [ENSMUST00000166088] [ENSMUST00000179546]
Predicted Effect possibly damaging
Transcript: ENSMUST00000009214
AA Change: V312F

PolyPhen 2 Score 0.933 (Sensitivity: 0.80; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000009214
Gene: ENSMUSG00000009070
AA Change: V312F

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 probably benign
Transcript: ENSMUST00000160072
SMART Domains Protein: ENSMUSP00000123760
Gene: ENSMUSG00000009070

DomainStartEndE-ValueType
Pfam:HEAT_2 28 133 1.6e-8 PFAM
Blast:ARM 138 161 2e-7 BLAST
Predicted Effect probably benign
Transcript: ENSMUST00000160450
SMART Domains Protein: ENSMUSP00000125289
Gene: ENSMUSG00000009070

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: V345F

PolyPhen 2 Score 0.966 (Sensitivity: 0.77; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000131632
Gene: ENSMUSG00000009070
AA Change: V345F

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 possibly damaging
Transcript: ENSMUST00000179546
AA Change: V312F

PolyPhen 2 Score 0.933 (Sensitivity: 0.80; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000136715
Gene: ENSMUSG00000009070
AA Change: V312F

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
Aggf1 C T 13: 95,369,522 E186K possibly damaging Het
Anks1b A G 10: 90,895,117 I932V probably benign Het
Atg2b A G 12: 105,643,267 Y1361H probably damaging Het
Bcl9 G T 3: 97,215,229 L85M probably damaging Het
Bcl9l T G 9: 44,505,739 S291R probably benign Het
Cpa2 T A 6: 30,550,768 D201E probably benign Het
Efna5 A T 17: 62,613,389 C164* probably null Het
Fam160b2 A T 14: 70,585,688 H642Q probably damaging Het
Fam160b2 T A 14: 70,586,190 H580L probably benign Het
Gm6316 A G 12: 69,920,989 probably benign Het
Gm996 G T 2: 25,577,031 S956* probably null Het
Gucy2g A G 19: 55,241,068 S57P probably damaging Het
Inf2 C A 12: 112,610,496 A968E unknown Het
Man2a2 G A 7: 80,359,640 A822V probably damaging Het
Mcm5 T A 8: 75,114,233 V222E probably damaging Het
Muc5b A G 7: 141,844,719 Y287C unknown Het
Olfr1037 A G 2: 86,085,369 M136T probably damaging Het
Olfr1121 T G 2: 87,372,254 S241A probably benign Het
Olfr292 G A 7: 86,694,731 V92M probably benign Het
Olfr538 A T 7: 140,574,641 M163L probably benign Het
Pabpc1l A G 2: 164,027,490 D70G probably damaging Het
Pkhd1 T A 1: 20,117,720 I3455F probably damaging Het
Ppp1r17 C A 6: 56,026,460 S86* probably null Het
Rasd1 A G 11: 59,964,789 M6T possibly damaging Het
Slc11a2 T A 15: 100,401,326 Q121L probably benign Het
Smc5 A T 19: 23,228,172 probably null Het
Tanc2 T C 11: 105,835,168 L386P probably damaging Het
Tmem9b A T 7: 109,736,957 L160Q probably damaging Het
Trim32 A G 4: 65,614,669 T488A possibly damaging Het
Tubb1 A G 2: 174,455,669 I24V probably benign Het
Upf1 A T 8: 70,335,652 probably null Het
Zfp263 T A 16: 3,746,415 probably benign Het
Other mutations in Rsph14
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00952:Rsph14 APN 10 75029769 missense probably benign 0.01
IGL01735:Rsph14 APN 10 75025160 missense probably damaging 1.00
IGL01809:Rsph14 APN 10 74957786 splice site probably benign
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
R7401:Rsph14 UTSW 10 75029796 missense possibly damaging 0.75
R7701:Rsph14 UTSW 10 74957776 nonsense probably null
X0023:Rsph14 UTSW 10 74961721 missense probably benign 0.10
Posted On2015-04-16