Incidental Mutation 'R8374:Rsph14'
ID 646582
Institutional Source Beutler Lab
Gene Symbol Rsph14
Ensembl Gene ENSMUSG00000009070
Gene Name radial spoke head homolog 14 (Chlamydomonas)
Synonyms 4933431K05Rik, Rtdr1
MMRRC Submission 067742-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.068) question?
Stock # R8374 (G1)
Quality Score 225.009
Status Not validated
Chromosome 10
Chromosomal Location 74793309-74868418 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 74797481 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Valine at position 169 (I169V)
Ref Sequence ENSEMBL: ENSMUSP00000136715 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000009214] [ENSMUST00000160072] [ENSMUST00000160450] [ENSMUST00000166088] [ENSMUST00000179546]
AlphaFold Q9D3W1
Predicted Effect probably benign
Transcript: ENSMUST00000009214
AA Change: I169V

PolyPhen 2 Score 0.050 (Sensitivity: 0.94; Specificity: 0.83)
SMART Domains Protein: ENSMUSP00000009214
Gene: ENSMUSG00000009070
AA Change: I169V

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
AA Change: I169V

PolyPhen 2 Score 0.050 (Sensitivity: 0.94; Specificity: 0.83)
SMART Domains Protein: ENSMUSP00000125289
Gene: ENSMUSG00000009070
AA Change: I169V

DomainStartEndE-ValueType
Pfam:HEAT_2 28 133 4.1e-8 PFAM
Blast:ARM 138 178 3e-19 BLAST
Predicted Effect probably benign
Transcript: ENSMUST00000166088
AA Change: I202V

PolyPhen 2 Score 0.076 (Sensitivity: 0.93; Specificity: 0.85)
SMART Domains Protein: ENSMUSP00000131632
Gene: ENSMUSG00000009070
AA Change: I202V

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
AA Change: I169V

PolyPhen 2 Score 0.050 (Sensitivity: 0.94; Specificity: 0.83)
SMART Domains Protein: ENSMUSP00000136715
Gene: ENSMUSG00000009070
AA Change: I169V

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
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.8%
  • 20x: 99.5%
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: 43 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adamts15 C T 9: 30,814,002 (GRCm39) G721E probably benign Het
Aip A T 19: 4,165,456 (GRCm39) M170K probably damaging Het
Alms1 T C 6: 85,585,973 (GRCm39) I276T probably benign Het
Arid1b C T 17: 5,392,919 (GRCm39) P2097S possibly damaging Het
Astn1 T G 1: 158,329,803 (GRCm39) N219K probably damaging Het
Cbx2 G T 11: 118,918,969 (GRCm39) R178L probably damaging Het
Clptm1 G A 7: 19,372,081 (GRCm39) P252S probably benign Het
Crebbp A G 16: 3,902,175 (GRCm39) S2355P probably damaging Het
D130043K22Rik C A 13: 25,041,962 (GRCm39) T297K probably benign Het
Ddx60 A G 8: 62,427,205 (GRCm39) D760G probably benign Het
Dgka T C 10: 128,557,112 (GRCm39) N621S probably benign Het
Ear10 A T 14: 44,160,645 (GRCm39) C61S probably damaging Het
F12 A T 13: 55,569,144 (GRCm39) C238S probably damaging Het
Fen1 A G 19: 10,177,824 (GRCm39) F207L probably benign Het
Fzr1 A G 10: 81,203,368 (GRCm39) L486P probably damaging Het
Gdnf A G 15: 7,864,176 (GRCm39) R196G probably benign Het
Gldc A C 19: 30,114,594 (GRCm39) F439V probably damaging Het
Gm3138 T C 14: 4,251,688 (GRCm38) M120T probably damaging Het
Gpi1 G A 7: 33,920,082 (GRCm39) A197V probably benign Het
Ighv1-4 T A 12: 114,450,899 (GRCm39) I70F probably benign Het
Il19 A T 1: 130,866,893 (GRCm39) L29Q probably damaging Het
Kank1 A T 19: 25,389,005 (GRCm39) I893F probably damaging Het
Kcnq5 G A 1: 21,549,648 (GRCm39) R360C probably damaging Het
Kif13b T C 14: 65,025,884 (GRCm39) S1414P probably damaging Het
Miga2 AAGAG AAG 2: 30,265,755 (GRCm39) probably null Het
Mosmo T A 7: 120,329,715 (GRCm39) M112K probably benign Het
Ntmt2 A T 1: 163,530,617 (GRCm39) M274K probably damaging Het
Or2d2b A G 7: 106,706,033 (GRCm39) F12L probably damaging Het
Or2h1b C A 17: 37,462,636 (GRCm39) V76F probably damaging Het
Or2w3b T A 11: 58,623,724 (GRCm39) D89V probably damaging Het
Pak6 G A 2: 118,524,477 (GRCm39) V497I probably benign Het
Ppargc1b G A 18: 61,443,564 (GRCm39) S549F probably damaging Het
Rassf8 T A 6: 145,760,863 (GRCm39) L63* probably null Het
Rptn G T 3: 93,303,602 (GRCm39) G312* probably null Het
Sltm A G 9: 70,469,227 (GRCm39) D162G probably null Het
Tatdn1 C T 15: 58,788,000 (GRCm39) probably null Het
Tbx4 A C 11: 85,805,102 (GRCm39) E397A probably benign Het
Tdrd12 T C 7: 35,177,486 (GRCm39) D956G unknown Het
Tnr G A 1: 159,685,953 (GRCm39) V395I probably benign Het
Ugt1a2 A T 1: 88,129,107 (GRCm39) H250L possibly damaging Het
Vmn1r173 C T 7: 23,401,920 (GRCm39) H52Y probably damaging Het
Vps11 T C 9: 44,267,706 (GRCm39) D302G probably benign Het
Zfp398 T C 6: 47,836,468 (GRCm39) probably null Het
Other mutations in Rsph14
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00952:Rsph14 APN 10 74,865,601 (GRCm39) missense probably benign 0.01
IGL01735:Rsph14 APN 10 74,860,992 (GRCm39) missense probably damaging 1.00
IGL01809:Rsph14 APN 10 74,793,618 (GRCm39) splice site probably benign
IGL02534:Rsph14 APN 10 74,793,466 (GRCm39) missense probably damaging 0.97
R1215:Rsph14 UTSW 10 74,860,898 (GRCm39) missense probably benign 0.27
R2060:Rsph14 UTSW 10 74,865,603 (GRCm39) missense probably damaging 1.00
R2163:Rsph14 UTSW 10 74,793,611 (GRCm39) missense probably damaging 1.00
R3777:Rsph14 UTSW 10 74,793,420 (GRCm39) missense possibly damaging 0.66
R3777:Rsph14 UTSW 10 74,793,419 (GRCm39) missense possibly damaging 0.87
R3778:Rsph14 UTSW 10 74,793,420 (GRCm39) missense possibly damaging 0.66
R3778:Rsph14 UTSW 10 74,793,419 (GRCm39) missense possibly damaging 0.87
R3844:Rsph14 UTSW 10 74,867,107 (GRCm39) missense possibly damaging 0.93
R5787:Rsph14 UTSW 10 74,793,460 (GRCm39) missense possibly damaging 0.62
R6044:Rsph14 UTSW 10 74,867,102 (GRCm39) missense probably benign 0.44
R6232:Rsph14 UTSW 10 74,797,520 (GRCm39) missense probably benign 0.00
R7401:Rsph14 UTSW 10 74,865,628 (GRCm39) missense possibly damaging 0.75
R7701:Rsph14 UTSW 10 74,793,608 (GRCm39) nonsense probably null
R8096:Rsph14 UTSW 10 74,795,493 (GRCm39) missense possibly damaging 0.81
R8725:Rsph14 UTSW 10 74,795,516 (GRCm39) missense probably benign 0.04
R9027:Rsph14 UTSW 10 74,795,423 (GRCm39) missense probably damaging 1.00
X0023:Rsph14 UTSW 10 74,797,553 (GRCm39) missense probably benign 0.10
Predicted Primers PCR Primer
(F):5'- AGAAACTCAGGAGGTGGCTC -3'
(R):5'- CAGGGATCGTTTTCTCAGGTCTAG -3'

Sequencing Primer
(F):5'- TCCTCGAGCCAACACAGAG -3'
(R):5'- AGACTCACTGCATCTGTGATC -3'
Posted On 2020-09-02