Incidental Mutation 'R3778:Rsph14'
ID 271913
Institutional Source Beutler Lab
Gene Symbol Rsph14
Ensembl Gene ENSMUSG00000009070
Gene Name radial spoke head homolog 14 (Chlamydomonas)
Synonyms 4933431K05Rik, Rtdr1
MMRRC Submission 040750-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.068) question?
Stock # R3778 (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 G at 74793420 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamine to Proline at position 360 (Q360P)
Ref Sequence ENSEMBL: ENSMUSP00000131632 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000009214] [ENSMUST00000160072] [ENSMUST00000160450] [ENSMUST00000166088] [ENSMUST00000179546]
AlphaFold Q9D3W1
Predicted Effect possibly damaging
Transcript: ENSMUST00000009214
AA Change: Q327P

PolyPhen 2 Score 0.507 (Sensitivity: 0.88; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000009214
Gene: ENSMUSG00000009070
AA Change: Q327P

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 possibly damaging
Transcript: ENSMUST00000166088
AA Change: Q360P

PolyPhen 2 Score 0.656 (Sensitivity: 0.87; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000131632
Gene: ENSMUSG00000009070
AA Change: Q360P

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: Q327P

PolyPhen 2 Score 0.507 (Sensitivity: 0.88; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000136715
Gene: ENSMUSG00000009070
AA Change: Q327P

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: 99.2%
  • 3x: 98.6%
  • 10x: 97.2%
  • 20x: 94.8%
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
Adcy8 A T 15: 64,618,846 (GRCm39) L769H probably damaging Het
Aldh1a7 A T 19: 20,696,675 (GRCm39) M106K possibly damaging Het
Ankfn1 G T 11: 89,332,220 (GRCm39) P442Q probably damaging Het
Aox1 A C 1: 58,092,862 (GRCm39) D158A possibly damaging Het
Apc A G 18: 34,446,134 (GRCm39) N976S probably damaging Het
Cfap54 C T 10: 92,740,206 (GRCm39) probably benign Het
Cldn1 C T 16: 26,190,216 (GRCm39) C54Y probably damaging Het
Col22a1 A T 15: 71,845,541 (GRCm39) I407N probably damaging Het
Cyp2e1 T C 7: 140,343,822 (GRCm39) V20A possibly damaging Het
Erp27 A T 6: 136,896,901 (GRCm39) N100K possibly damaging Het
Fbn1 C T 2: 125,159,006 (GRCm39) C2253Y probably damaging Het
Fhip1b T A 7: 105,037,435 (GRCm39) T383S probably damaging Het
Flnb G A 14: 7,915,353 (GRCm38) V1495I probably benign Het
Fscn3 A C 6: 28,430,031 (GRCm39) K67T possibly damaging Het
Gls A G 1: 52,208,071 (GRCm39) V571A probably benign Het
Gm14569 T A X: 35,696,085 (GRCm39) M875L probably benign Het
Gm4871 A G 5: 144,966,893 (GRCm39) S197P probably damaging Het
Gm7104 A T 12: 88,252,441 (GRCm39) noncoding transcript Het
Gp9 A T 6: 87,755,987 (GRCm39) M1L probably benign Het
Greb1l T A 18: 10,469,444 (GRCm39) L153H possibly damaging Het
H1f8 T C 6: 115,926,708 (GRCm39) probably null Het
Hadha A T 5: 30,325,127 (GRCm39) C688S probably damaging Het
Hif1an A G 19: 44,557,847 (GRCm39) D243G probably damaging Het
Hmcn1 A T 1: 150,678,575 (GRCm39) D515E possibly damaging Het
Hsfy2 A T 1: 56,675,847 (GRCm39) V230E possibly damaging Het
Ighv1-72 A T 12: 115,721,636 (GRCm39) S107T probably damaging Het
Inpp4b T A 8: 82,768,621 (GRCm39) V710D possibly damaging Het
Itpr3 A G 17: 27,314,446 (GRCm39) D632G possibly damaging Het
Kcnd3 C T 3: 105,566,082 (GRCm39) A421V probably damaging Het
Lrig2 A G 3: 104,365,277 (GRCm39) I625T probably benign Het
Lrp2 A T 2: 69,339,548 (GRCm39) M1121K probably benign Het
Man2b2 T C 5: 36,972,871 (GRCm39) N548D probably benign Het
Mei1 T C 15: 81,966,209 (GRCm39) L277P probably damaging Het
Mki67 A C 7: 135,297,859 (GRCm39) S2392A probably benign Het
Mycbp2 T A 14: 103,434,721 (GRCm39) I2241F probably damaging Het
Nalcn G A 14: 123,702,128 (GRCm39) T461M probably damaging Het
Ncoa6 A G 2: 155,263,115 (GRCm39) S440P probably damaging Het
Ncoa7 A G 10: 30,565,752 (GRCm39) Y632H probably damaging Het
Notch2 T C 3: 98,053,939 (GRCm39) S2201P probably damaging Het
Or10c1 T C 17: 37,522,649 (GRCm39) T32A probably benign Het
Or5p52 C A 7: 107,501,954 (GRCm39) A10E probably benign Het
Pard6g A T 18: 80,123,038 (GRCm39) probably null Het
Pask T A 1: 93,255,189 (GRCm39) I294F probably damaging Het
Pax9 A G 12: 56,743,533 (GRCm39) Y60C probably damaging Het
Pcdh15 G A 10: 73,782,983 (GRCm39) probably null Het
Pik3c2g A T 6: 139,599,385 (GRCm39) Y167F probably damaging Het
Ppfibp2 A G 7: 107,328,396 (GRCm39) T476A probably benign Het
Ppm1e T C 11: 87,139,754 (GRCm39) probably null Het
Sec24c A G 14: 20,733,375 (GRCm39) Q234R possibly damaging Het
Shcbp1 A T 8: 4,786,295 (GRCm39) N602K probably benign Het
Sirt5 A G 13: 43,536,583 (GRCm39) probably null Het
Slc66a1 T C 4: 139,026,293 (GRCm39) probably null Het
Sp8 G T 12: 118,812,750 (GRCm39) V202L possibly damaging Het
Tle6 G T 10: 81,431,987 (GRCm39) P86T probably benign Het
Tmem235 A T 11: 117,753,126 (GRCm39) H83L probably benign Het
Trappc10 A G 10: 78,036,636 (GRCm39) V861A possibly damaging Het
Trpm2 A C 10: 77,771,824 (GRCm39) L605R probably benign Het
Vat1l T C 8: 114,963,540 (GRCm39) probably null Het
Wnt6 A C 1: 74,821,941 (GRCm39) D174A possibly damaging Het
Wwox T C 8: 115,601,347 (GRCm39) C355R probably benign Het
Zfp229 A T 17: 21,964,183 (GRCm39) T138S probably benign 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 74,793,419 (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
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'- GACGTGTACTTTTCAGAACCAGG -3'
(R):5'- CTCTGGATGCCAATGCTATCG -3'

Sequencing Primer
(F):5'- GTACTTTTCAGAACCAGGTCCTTCTG -3'
(R):5'- ATCGAACCACTCCTGGAGTTG -3'
Posted On 2015-03-25