Incidental Mutation 'R7401:Rsph14'
ID 574176
Institutional Source Beutler Lab
Gene Symbol Rsph14
Ensembl Gene ENSMUSG00000009070
Gene Name radial spoke head homolog 14 (Chlamydomonas)
Synonyms 4933431K05Rik, Rtdr1
MMRRC Submission 045483-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.068) question?
Stock # R7401 (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 A at 74865628 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamic Acid to Valine at position 70 (E70V)
Ref Sequence ENSEMBL: ENSMUSP00000136715 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000009214] [ENSMUST00000159994] [ENSMUST00000160072] [ENSMUST00000160450] [ENSMUST00000166088] [ENSMUST00000179546]
AlphaFold Q9D3W1
Predicted Effect possibly damaging
Transcript: ENSMUST00000009214
AA Change: E70V

PolyPhen 2 Score 0.752 (Sensitivity: 0.85; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000009214
Gene: ENSMUSG00000009070
AA Change: E70V

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 damaging
Transcript: ENSMUST00000159994
AA Change: E70V

PolyPhen 2 Score 0.980 (Sensitivity: 0.75; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000125669
Gene: ENSMUSG00000009070
AA Change: E70V

DomainStartEndE-ValueType
Pfam:HEAT_2 28 133 2.8e-8 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000160072
AA Change: E70V

PolyPhen 2 Score 0.752 (Sensitivity: 0.85; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000123760
Gene: ENSMUSG00000009070
AA Change: E70V

DomainStartEndE-ValueType
Pfam:HEAT_2 28 133 1.6e-8 PFAM
Blast:ARM 138 161 2e-7 BLAST
Predicted Effect possibly damaging
Transcript: ENSMUST00000160450
AA Change: E70V

PolyPhen 2 Score 0.752 (Sensitivity: 0.85; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000125289
Gene: ENSMUSG00000009070
AA Change: E70V

DomainStartEndE-ValueType
Pfam:HEAT_2 28 133 4.1e-8 PFAM
Blast:ARM 138 178 3e-19 BLAST
Predicted Effect possibly damaging
Transcript: ENSMUST00000166088
AA Change: E103V

PolyPhen 2 Score 0.752 (Sensitivity: 0.85; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000131632
Gene: ENSMUSG00000009070
AA Change: E103V

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: E70V

PolyPhen 2 Score 0.752 (Sensitivity: 0.85; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000136715
Gene: ENSMUSG00000009070
AA Change: E70V

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: 99.7%
  • 20x: 99.2%
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: 73 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2610318N02Rik A T 16: 16,936,268 (GRCm39) L152Q probably benign Het
Abcg3 A T 5: 105,114,640 (GRCm39) N292K probably damaging Het
Adamts3 T A 5: 89,855,309 (GRCm39) probably null Het
Adgrg7 T C 16: 56,562,781 (GRCm39) N519D probably benign Het
Adsl A G 15: 80,846,983 (GRCm39) H263R probably damaging Het
Ak9 A T 10: 41,299,000 (GRCm39) D1567V unknown Het
Bscl2 T C 19: 8,823,914 (GRCm39) F280L possibly damaging Het
Cacna1b T A 2: 24,569,306 (GRCm39) T873S probably benign Het
Cacna1c T C 6: 119,029,669 (GRCm39) probably null Het
Cast G T 13: 74,956,577 (GRCm39) A18E unknown Het
Cd207 A C 6: 83,654,830 (GRCm39) probably benign Het
Cd79b A G 11: 106,203,678 (GRCm39) S130P probably benign Het
Cfap52 A T 11: 67,840,459 (GRCm39) N157K probably benign Het
Cfap57 C T 4: 118,472,128 (GRCm39) V84I probably benign Het
Chaf1b G T 16: 93,681,268 (GRCm39) probably benign Het
Cntn1 A G 15: 92,215,870 (GRCm39) I968V probably benign Het
Cntn5 C T 9: 9,833,466 (GRCm39) V362I probably benign Het
Crem A G 18: 3,295,329 (GRCm39) S80P probably damaging Het
Csnk1g3 C T 18: 54,063,390 (GRCm39) T267I probably damaging Het
Cyth1 A T 11: 118,073,077 (GRCm39) N274K possibly damaging Het
Dicer1 C T 12: 104,678,537 (GRCm39) G594S probably benign Het
Enpp1 C T 10: 24,521,180 (GRCm39) C849Y probably damaging Het
Fam193a A G 5: 34,622,979 (GRCm39) E1189G possibly damaging Het
Fermt1 C A 2: 132,759,479 (GRCm39) V426L probably benign Het
Fes A G 7: 80,028,524 (GRCm39) probably null Het
Gmeb1 C A 4: 131,953,085 (GRCm39) L560F probably damaging Het
Hace1 T C 10: 45,546,722 (GRCm39) L452P probably damaging Het
Hecw2 T A 1: 53,943,502 (GRCm39) H975L probably damaging Het
Idh2 GGTCCCAG GG 7: 79,748,077 (GRCm39) probably benign Het
Il1r2 T A 1: 40,162,370 (GRCm39) C338S probably damaging Het
Iqcn T C 8: 71,169,921 (GRCm39) I1337T probably benign Het
Kcnb1 T C 2: 167,030,204 (GRCm39) S114G probably damaging Het
Lce1c A T 3: 92,587,623 (GRCm39) T17S unknown Het
Lhfpl4 C A 6: 113,153,627 (GRCm39) L141F possibly damaging Het
Ms4a14 T C 19: 11,279,594 (GRCm39) E988G possibly damaging Het
Naip5 G T 13: 100,356,205 (GRCm39) Q1137K not run Het
Naip5 T C 13: 100,356,204 (GRCm39) Q1137R probably benign Het
Neurod1 T A 2: 79,285,290 (GRCm39) D31V probably benign Het
Neurod4 A G 10: 130,106,927 (GRCm39) C116R probably damaging Het
Nisch A G 14: 30,928,537 (GRCm39) V28A probably benign Het
Odad1 A C 7: 45,592,189 (GRCm39) Q323P probably damaging Het
Or4a72 A G 2: 89,405,449 (GRCm39) V207A probably benign Het
Or5d44 T G 2: 88,141,772 (GRCm39) M123L probably benign Het
Pabpc4l T A 3: 46,401,024 (GRCm39) R207W probably damaging Het
Pabpc4l A T 3: 46,400,687 (GRCm39) I319N probably damaging Het
Pcm1 G A 8: 41,762,568 (GRCm39) D1371N probably damaging Het
Peg10 G GGTC 6: 4,756,452 (GRCm39) probably benign Het
Plxnc1 C T 10: 94,706,867 (GRCm39) A557T probably benign Het
Prkdc T A 16: 15,466,602 (GRCm39) V58D probably damaging Het
Prpf40a A G 2: 53,046,959 (GRCm39) V259A probably benign Het
Psmd3 A T 11: 98,576,466 (GRCm39) T123S probably benign Het
Ptgr2 G T 12: 84,339,103 (GRCm39) probably benign Het
Ptprr A G 10: 115,884,141 (GRCm39) H66R probably benign Het
Rftn2 A G 1: 55,233,401 (GRCm39) probably null Het
Slc24a5 G A 2: 124,930,111 (GRCm39) V471I probably benign Het
Sorbs1 G C 19: 40,365,244 (GRCm39) R180G probably benign Het
Spag9 A T 11: 93,988,515 (GRCm39) T862S probably benign Het
Ssbp2 T A 13: 91,839,002 (GRCm39) D291E probably benign Het
Supt5 T C 7: 28,023,197 (GRCm39) K329E probably damaging Het
Syne2 G T 12: 76,014,155 (GRCm39) K3115N probably damaging Het
Tars1 A T 15: 11,392,095 (GRCm39) L239* probably null Het
Tbxa2r T C 10: 81,168,625 (GRCm39) Y105H probably benign Het
Tesk1 T A 4: 43,445,743 (GRCm39) D265E probably damaging Het
Tril T C 6: 53,795,266 (GRCm39) D652G possibly damaging Het
Tsga10 T C 1: 37,873,268 (GRCm39) R204G probably null Het
Twnk A G 19: 45,000,219 (GRCm39) D645G probably benign Het
Umodl1 A T 17: 31,217,122 (GRCm39) D1118V probably damaging Het
Unc119 T C 11: 78,238,071 (GRCm39) I83T probably benign Het
Unc80 T C 1: 66,685,574 (GRCm39) W2233R possibly damaging Het
Vmn1r45 T A 6: 89,910,416 (GRCm39) T185S possibly damaging Het
Vmn2r111 G T 17: 22,790,067 (GRCm39) T313K possibly damaging Het
Wdr4 A G 17: 31,728,806 (GRCm39) L123S probably damaging Het
Zfpm2 A G 15: 40,966,386 (GRCm39) E957G possibly 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
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
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'- TCATCCACAAATAGAGGCGC -3'
(R):5'- AAATAGGATTGACTCTGGGTGTGAG -3'

Sequencing Primer
(F):5'- CGTGCTCAAGGTCACTCGAG -3'
(R):5'- CTGGGTGTGAGCTCCTTATACTAAC -3'
Posted On 2019-09-13