Incidental Mutation 'R5787:Rsph14'
ID 448094
Institutional Source Beutler Lab
Gene Symbol Rsph14
Ensembl Gene ENSMUSG00000009070
Gene Name radial spoke head homolog 14 (Chlamydomonas)
Synonyms 4933431K05Rik, Rtdr1
Accession Numbers
Essential gene? Probably non essential (E-score: 0.061) question?
Stock # R5787 (G1)
Quality Score 225
Status Not validated
Chromosome 10
Chromosomal Location 74793309-74868418 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 74793460 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Phenylalanine at position 314 (I314F)
Ref Sequence ENSEMBL: ENSMUSP00000136715 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000009214] [ENSMUST00000160072] [ENSMUST00000160450] [ENSMUST00000166088] [ENSMUST00000179546]
AlphaFold Q9D3W1
Predicted Effect possibly damaging
Transcript: ENSMUST00000009214
AA Change: I314F

PolyPhen 2 Score 0.624 (Sensitivity: 0.87; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000009214
Gene: ENSMUSG00000009070
AA Change: I314F

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
AA Change: I347F

PolyPhen 2 Score 0.216 (Sensitivity: 0.91; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000131632
Gene: ENSMUSG00000009070
AA Change: I347F

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: I314F

PolyPhen 2 Score 0.624 (Sensitivity: 0.87; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000136715
Gene: ENSMUSG00000009070
AA Change: I314F

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: 99.3%
  • 3x: 98.7%
  • 10x: 97.4%
  • 20x: 95.5%
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: 61 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acot11 C T 4: 106,617,327 (GRCm39) G240R probably damaging Het
Adam24 A G 8: 41,133,941 (GRCm39) N470D possibly damaging Het
Adcy8 T C 15: 64,576,067 (GRCm39) D1027G probably damaging Het
Amph A T 13: 19,132,624 (GRCm39) I8F possibly damaging Het
Ankrd60 TGGCCACGCGG TGG 2: 173,419,882 (GRCm39) probably null Het
Ano5 G A 7: 51,216,066 (GRCm39) D348N possibly damaging Het
Atp6v0a1 A G 11: 100,909,400 (GRCm39) D43G probably benign Het
Bltp1 T C 3: 37,046,882 (GRCm39) probably null Het
Btnl10 T A 11: 58,811,169 (GRCm39) I164N probably damaging Het
Ccdc174 C T 6: 91,858,291 (GRCm39) Q71* probably null Het
Ceacam3 G A 7: 16,888,971 (GRCm39) E247K possibly damaging Het
Chrna2 A G 14: 66,386,457 (GRCm39) D201G probably benign Het
Clasp2 G A 9: 113,691,310 (GRCm39) D448N probably damaging Het
Clcn2 C A 16: 20,522,183 (GRCm39) R829L probably damaging Het
Clock A G 5: 76,384,898 (GRCm39) S440P probably damaging Het
Cntn2 T C 1: 132,450,797 (GRCm39) D29G probably damaging Het
Cpne4 A G 9: 104,899,600 (GRCm39) T428A probably benign Het
Cul3 T C 1: 80,260,438 (GRCm39) I304V probably benign Het
Cyp11a1 C A 9: 57,922,550 (GRCm39) Q77K probably benign Het
Cyp3a25 A G 5: 145,935,313 (GRCm39) V101A probably benign Het
Cyp4f15 T C 17: 32,921,782 (GRCm39) F485L probably damaging Het
Des T A 1: 75,340,290 (GRCm39) V399E probably damaging Het
Dhx58 T C 11: 100,592,145 (GRCm39) D301G possibly damaging Het
Ear6 A G 14: 52,091,855 (GRCm39) E134G probably benign Het
Eif2b3 A G 4: 116,901,637 (GRCm39) D100G probably damaging Het
Erich1 T C 8: 14,083,776 (GRCm39) probably null Het
Gm4787 G C 12: 81,424,604 (GRCm39) T518S probably benign Het
Htr4 T C 18: 62,546,693 (GRCm39) V82A probably damaging Het
Hydin A G 8: 111,052,985 (GRCm39) D219G probably damaging Het
Ifit1 T A 19: 34,624,975 (GRCm39) V37E probably benign Het
Isg20 T A 7: 78,569,558 (GRCm39) D176E probably benign Het
Islr2 A G 9: 58,105,637 (GRCm39) V585A probably damaging Het
Kat6a A G 8: 23,422,663 (GRCm39) E991G probably damaging Het
Kcnv1 T C 15: 44,977,726 (GRCm39) Y104C probably damaging Het
Lrtm1 G C 14: 28,743,947 (GRCm39) E138D possibly damaging Het
Mllt3 A T 4: 87,759,057 (GRCm39) D330E probably damaging Het
Mpp7 T C 18: 7,461,682 (GRCm39) N64D probably benign Het
Naip6 G T 13: 100,436,724 (GRCm39) Q600K probably benign Het
Nop9 T G 14: 55,983,791 (GRCm39) C141G possibly damaging Het
Nos1ap T C 1: 170,146,141 (GRCm39) E471G probably benign Het
Npr2 A G 4: 43,633,593 (GRCm39) T246A possibly damaging Het
Or2t1 A C 14: 14,328,725 (GRCm38) M205L probably damaging Het
Or4a76 T A 2: 89,461,018 (GRCm39) I75F probably benign Het
Or6z1 A T 7: 6,504,989 (GRCm39) S79T probably damaging Het
Pdlim4 T A 11: 53,946,042 (GRCm39) D271V probably damaging Het
Pik3r6 T C 11: 68,430,753 (GRCm39) V518A possibly damaging Het
Rab5a C T 17: 53,804,650 (GRCm39) P87S probably damaging Het
Rbsn C T 6: 92,176,797 (GRCm39) V239I possibly damaging Het
S1pr2 A T 9: 20,879,232 (GRCm39) S199T probably benign Het
Scrib A G 15: 75,931,151 (GRCm39) L902P probably damaging Het
Slc25a23 T C 17: 57,360,825 (GRCm39) T200A probably damaging Het
Slc8a1 A T 17: 81,696,166 (GRCm39) I956N probably damaging Het
Spef2 A G 15: 9,748,812 (GRCm39) V15A possibly damaging Het
Stim1 T A 7: 102,084,647 (GRCm39) V533E possibly damaging Het
Tbck A T 3: 132,443,329 (GRCm39) D585V probably damaging Het
Tpr T A 1: 150,271,037 (GRCm39) L80Q probably benign Het
Trim67 C T 8: 125,521,051 (GRCm39) R138* probably null Het
Ttn T C 2: 76,580,627 (GRCm39) N23422S probably damaging Het
Uba6 A G 5: 86,260,511 (GRCm39) *1023Q probably null Het
Vmn1r208 T C 13: 22,956,841 (GRCm39) N219D possibly damaging Het
Vmn1r8 T A 6: 57,013,244 (GRCm39) S98R probably damaging 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
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
R8374:Rsph14 UTSW 10 74,797,481 (GRCm39) missense probably benign 0.05
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'- ACATTGCTCCAGGAACATGAGG -3'
(R):5'- AGACAGCCCCTTTAGTGTGG -3'

Sequencing Primer
(F):5'- CAGGAACATGAGGCGGCAC -3'
(R):5'- ACAGCCCCTTTAGTGTGGATGTG -3'
Posted On 2016-12-15