Incidental Mutation 'IGL02524:Spmip11'
ID 297010
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Spmip11
Ensembl Gene ENSMUSG00000022993
Gene Name sperm microtubule inner protein 11
Synonyms 4930415O20Rik, Tex49
Accession Numbers
Essential gene? Probably non essential (E-score: 0.162) question?
Stock # IGL02524
Quality Score
Status
Chromosome 15
Chromosomal Location 98468885-98487461 bp(+) (GRCm39)
Type of Mutation critical splice donor site (1 bp from exon)
DNA Base Change (assembly) G to A at 98469006 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000023728 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000012104] [ENSMUST00000023728] [ENSMUST00000168928] [ENSMUST00000169707]
AlphaFold Q8CDT5
Predicted Effect probably benign
Transcript: ENSMUST00000012104
SMART Domains Protein: ENSMUSP00000012104
Gene: ENSMUSG00000011960

DomainStartEndE-ValueType
CYCLIN 43 142 5.89e-17 SMART
SCOP:d1jkw_2 152 257 1e-24 SMART
Blast:CYCLIN 155 243 2e-54 BLAST
low complexity region 308 326 N/A INTRINSIC
coiled coil region 388 419 N/A INTRINSIC
low complexity region 512 529 N/A INTRINSIC
low complexity region 559 570 N/A INTRINSIC
low complexity region 706 723 N/A INTRINSIC
Predicted Effect probably null
Transcript: ENSMUST00000023728
Predicted Effect noncoding transcript
Transcript: ENSMUST00000130921
Predicted Effect noncoding transcript
Transcript: ENSMUST00000163781
Predicted Effect noncoding transcript
Transcript: ENSMUST00000164565
Predicted Effect probably benign
Transcript: ENSMUST00000168928
SMART Domains Protein: ENSMUSP00000130286
Gene: ENSMUSG00000011960

DomainStartEndE-ValueType
CYCLIN 43 142 5.89e-17 SMART
Blast:CYCLIN 155 182 3e-9 BLAST
Predicted Effect probably benign
Transcript: ENSMUST00000169707
SMART Domains Protein: ENSMUSP00000126874
Gene: ENSMUSG00000011960

DomainStartEndE-ValueType
CYCLIN 43 142 5.89e-17 SMART
SCOP:d1jkw_2 152 257 1e-24 SMART
Blast:CYCLIN 155 243 2e-54 BLAST
low complexity region 308 326 N/A INTRINSIC
coiled coil region 388 419 N/A INTRINSIC
low complexity region 512 529 N/A INTRINSIC
low complexity region 559 570 N/A INTRINSIC
low complexity region 706 723 N/A INTRINSIC
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 40 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca8a A G 11: 109,969,641 (GRCm39) probably benign Het
Acvr1 T C 2: 58,338,319 (GRCm39) probably benign Het
Asap3 A T 4: 135,965,927 (GRCm39) T453S probably damaging Het
Ccdc110 C T 8: 46,394,979 (GRCm39) P290L probably benign Het
Ccdc127 A G 13: 74,501,016 (GRCm39) N11S probably damaging Het
Cd80 T C 16: 38,303,045 (GRCm39) V164A probably benign Het
Ctnna3 T C 10: 64,096,605 (GRCm39) I381T possibly damaging Het
Epha7 A T 4: 28,821,494 (GRCm39) T220S possibly damaging Het
Etnppl A G 3: 130,424,320 (GRCm39) probably benign Het
Far2 T A 6: 148,052,156 (GRCm39) L145Q probably damaging Het
Fdxr A G 11: 115,162,086 (GRCm39) probably null Het
Jmy A G 13: 93,609,268 (GRCm39) V347A probably damaging Het
Kcns2 A G 15: 34,838,981 (GRCm39) I115V probably benign Het
Kif2a A G 13: 107,100,863 (GRCm39) L627S possibly damaging Het
Krtap26-1 A G 16: 88,444,367 (GRCm39) S85P possibly damaging Het
Ldlr C A 9: 21,644,977 (GRCm39) D168E probably damaging Het
Lrrc8e T G 8: 4,285,392 (GRCm39) L539R probably damaging Het
Mmp8 A G 9: 7,560,506 (GRCm39) E61G probably damaging Het
Msh2 T C 17: 87,985,785 (GRCm39) F121L probably benign Het
Myh4 A G 11: 67,140,066 (GRCm39) K638E possibly damaging Het
Ndufaf6 A G 4: 11,059,091 (GRCm39) F246S probably benign Het
Nynrin C T 14: 56,108,931 (GRCm39) A1346V possibly damaging Het
Or8k53 A C 2: 86,177,686 (GRCm39) C141W probably damaging Het
P2rx1 C T 11: 72,900,474 (GRCm39) P196L probably damaging Het
Pbx3 T C 2: 34,260,830 (GRCm39) probably benign Het
Psen2 A T 1: 180,073,232 (GRCm39) S30T probably benign Het
Rack1 T C 11: 48,694,298 (GRCm39) V166A probably benign Het
Rpgrip1 A G 14: 52,358,511 (GRCm39) T206A probably benign Het
Rrp7a A G 15: 83,002,379 (GRCm39) probably benign Het
Slco1b2 C T 6: 141,616,798 (GRCm39) T377I probably benign Het
Sult2a6 A T 7: 13,970,611 (GRCm39) S162T possibly damaging Het
Syt2 A G 1: 134,669,703 (GRCm39) K115E probably benign Het
Tet1 A G 10: 62,714,425 (GRCm39) S457P probably damaging Het
Trbv3 A G 6: 41,025,599 (GRCm39) E63G possibly damaging Het
Unc13d T C 11: 115,961,145 (GRCm39) Y404C probably damaging Het
Usp32 G A 11: 84,900,837 (GRCm39) R1128* probably null Het
Vps4a G A 8: 107,763,383 (GRCm39) probably benign Het
Ythdc2 T A 18: 44,980,921 (GRCm39) H505Q probably damaging Het
Ywhab T A 2: 163,858,057 (GRCm39) L208Q probably damaging Het
Zfyve16 T C 13: 92,641,022 (GRCm39) K1241E probably benign Het
Other mutations in Spmip11
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00493:Spmip11 APN 15 98,486,425 (GRCm39) unclassified probably benign
R0029:Spmip11 UTSW 15 98,483,190 (GRCm39) splice site probably null
R0029:Spmip11 UTSW 15 98,483,190 (GRCm39) splice site probably null
R0420:Spmip11 UTSW 15 98,468,975 (GRCm39) missense probably benign 0.16
R1470:Spmip11 UTSW 15 98,483,142 (GRCm39) unclassified probably benign
R5144:Spmip11 UTSW 15 98,483,148 (GRCm39) splice site probably null
R7742:Spmip11 UTSW 15 98,483,250 (GRCm39) missense probably damaging 1.00
R8167:Spmip11 UTSW 15 98,486,548 (GRCm39) missense probably benign
R9008:Spmip11 UTSW 15 98,486,493 (GRCm39) missense possibly damaging 0.72
R9758:Spmip11 UTSW 15 98,483,264 (GRCm39) missense probably damaging 1.00
Posted On 2015-04-16