Incidental Mutation 'IGL01809:Rsph14'
ID155784
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 #IGL01809
Quality Score
Status
Chromosome10
Chromosomal Location74957477-75032586 bp(-) (GRCm38)
Type of Mutationsplice site
DNA Base Change (assembly) G to A at 74957786 bp
ZygosityHeterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000136715 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000009214] [ENSMUST00000160072] [ENSMUST00000160450] [ENSMUST00000166088] [ENSMUST00000179546]
Predicted Effect probably benign
Transcript: ENSMUST00000009214
SMART Domains Protein: ENSMUSP00000009214
Gene: ENSMUSG00000009070

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 benign
Transcript: ENSMUST00000166088
SMART Domains Protein: ENSMUSP00000131632
Gene: ENSMUSG00000009070

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 benign
Transcript: ENSMUST00000179546
SMART Domains Protein: ENSMUSP00000136715
Gene: ENSMUSG00000009070

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: 35 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca13 A T 11: 9,290,339 N734I probably damaging Het
Abi1 T C 2: 22,946,717 I371V probably benign Het
Atp8b3 A G 10: 80,520,011 F1289S probably benign Het
Brca2 T A 5: 150,531,061 probably null Het
C8a A T 4: 104,845,942 I306N probably benign Het
Crybg3 G T 16: 59,524,853 probably benign Het
Disp2 T A 2: 118,787,264 probably benign Het
Dtl A G 1: 191,548,303 F373S probably damaging Het
Dynlt1a G A 17: 6,310,872 probably null Het
Dyrk1a G A 16: 94,659,617 R44H probably benign Het
Fam114a2 C T 11: 57,513,635 probably null Het
Fsip2 A G 2: 82,978,347 E1670G possibly damaging Het
Gbp10 A T 5: 105,217,359 N594K probably benign Het
Gpam T A 19: 55,075,625 K679* probably null Het
Gtf2i A T 5: 134,249,950 V524E probably damaging Het
Itpr2 T A 6: 146,227,581 E2011D probably damaging Het
Jag1 C A 2: 137,115,484 G103W probably damaging Het
Klkb1 A T 8: 45,276,053 V378E probably benign Het
Lyst T A 13: 13,637,803 S933R probably damaging Het
Man2b2 T C 5: 36,814,516 S619G probably benign Het
Mex3b T C 7: 82,869,712 S412P probably benign Het
Mtf2 A G 5: 108,087,325 I36V probably benign Het
Nckipsd T C 9: 108,817,554 Y652H probably damaging Het
Olfr1136 T C 2: 87,693,745 I46V possibly damaging Het
Olfr870 A G 9: 20,171,295 I92T probably damaging Het
Olfr968 A T 9: 39,772,694 Y35* probably null Het
Olfr994 A G 2: 85,430,154 L225P probably damaging Het
Phykpl T C 11: 51,599,524 F411L probably benign Het
Rbm8a T A 3: 96,631,537 F101I probably damaging Het
Rbp3 G T 14: 33,955,300 G402W probably damaging Het
Recql4 G A 15: 76,708,870 R254* probably null Het
Stau2 A T 1: 16,440,315 probably null Het
Tmprss11c G A 5: 86,237,662 S304L possibly damaging Het
Vipr1 T G 9: 121,661,440 M184R possibly damaging Het
Zfp106 G A 2: 120,533,671 R752C probably damaging 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
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
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 On2014-02-04