Incidental Mutation 'IGL02693:Spmip9'
ID 303822
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Spmip9
Ensembl Gene ENSMUSG00000051896
Gene Name sperm microtubule inner protein 9
Synonyms 1700011F03Rik, Tex37
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # IGL02693
Quality Score
Status
Chromosome 6
Chromosomal Location 70890071-70895911 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to A at 70890488 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Arginine to Serine at position 101 (R101S)
Ref Sequence ENSEMBL: ENSMUSP00000066786 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000063456]
AlphaFold Q9DAG4
Predicted Effect possibly damaging
Transcript: ENSMUST00000063456
AA Change: R101S

PolyPhen 2 Score 0.711 (Sensitivity: 0.86; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000066786
Gene: ENSMUSG00000051896
AA Change: R101S

DomainStartEndE-ValueType
Pfam:TSC21 1 180 4.3e-107 PFAM
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 31 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A830018L16Rik A G 1: 11,666,506 (GRCm39) D271G probably damaging Het
Agl A T 3: 116,540,077 (GRCm39) V1478E possibly damaging Het
Ckap5 C T 2: 91,400,556 (GRCm39) P636L probably damaging Het
Cnot1 A G 8: 96,500,113 (GRCm39) V127A probably damaging Het
Cs A G 10: 128,185,678 (GRCm39) probably benign Het
Fbln1 G A 15: 85,113,775 (GRCm39) E170K probably benign Het
Gm5866 A T 5: 52,740,558 (GRCm39) noncoding transcript Het
Lpin3 T C 2: 160,746,975 (GRCm39) V794A probably damaging Het
Ly86 T G 13: 37,559,005 (GRCm39) I68S probably damaging Het
Mrps34 A G 17: 25,114,172 (GRCm39) I11V probably benign Het
Nsmce4a A G 7: 130,144,538 (GRCm39) S122P probably damaging Het
Olfm1 A G 2: 28,102,662 (GRCm39) E112G probably damaging Het
Or5w20 T G 2: 87,726,877 (GRCm39) C111W probably damaging Het
Parp9 A G 16: 35,777,340 (GRCm39) E428G probably benign Het
Phkb T G 8: 86,668,863 (GRCm39) F297V probably damaging Het
Pianp T G 6: 124,978,598 (GRCm39) F268V possibly damaging Het
Polr1a T C 6: 71,940,830 (GRCm39) probably benign Het
Prune2 G A 19: 17,101,855 (GRCm39) G2453E probably benign Het
Ptpn4 T C 1: 119,643,699 (GRCm39) N350D probably damaging Het
Rbm12 C T 2: 155,937,480 (GRCm39) probably benign Het
Rfc4 A G 16: 22,932,960 (GRCm39) S326P probably damaging Het
Rnf123 G A 9: 107,945,501 (GRCm39) R390* probably null Het
Slc35f1 A T 10: 52,809,224 (GRCm39) L70F probably damaging Het
Slc5a7 T C 17: 54,583,947 (GRCm39) T448A probably benign Het
Spata31h1 T C 10: 82,121,092 (GRCm39) I3973V probably benign Het
Stoml1 T A 9: 58,164,359 (GRCm39) I149N probably damaging Het
Sytl1 A T 4: 132,985,057 (GRCm39) C180S probably benign Het
Traf6 T C 2: 101,518,850 (GRCm39) L113P possibly damaging Het
Trappc9 A G 15: 72,835,542 (GRCm39) probably benign Het
Tubg2 T C 11: 101,051,725 (GRCm39) Y317H probably damaging Het
Zfp334 T C 2: 165,222,433 (GRCm39) T537A possibly damaging Het
Other mutations in Spmip9
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00940:Spmip9 APN 6 70,890,372 (GRCm39) missense probably benign 0.12
IGL02323:Spmip9 APN 6 70,890,679 (GRCm39) splice site probably benign
IGL03161:Spmip9 APN 6 70,890,519 (GRCm39) missense probably benign 0.08
R1734:Spmip9 UTSW 6 70,890,645 (GRCm39) missense probably benign 0.12
R3408:Spmip9 UTSW 6 70,892,690 (GRCm39) missense possibly damaging 0.52
R3956:Spmip9 UTSW 6 70,890,469 (GRCm39) missense possibly damaging 0.93
R3981:Spmip9 UTSW 6 70,890,283 (GRCm39) missense possibly damaging 0.71
R5084:Spmip9 UTSW 6 70,892,688 (GRCm39) missense possibly damaging 0.86
R5376:Spmip9 UTSW 6 70,890,466 (GRCm39) missense possibly damaging 0.84
R7532:Spmip9 UTSW 6 70,890,621 (GRCm39) missense probably benign 0.37
R8317:Spmip9 UTSW 6 70,890,276 (GRCm39) missense possibly damaging 0.85
R9468:Spmip9 UTSW 6 70,890,627 (GRCm39) missense probably benign
Posted On 2015-04-16