Incidental Mutation 'R9758:Spmip11'
ID 732875
Institutional Source Beutler Lab
Gene Symbol Spmip11
Ensembl Gene ENSMUSG00000022993
Gene Name sperm microtubule inner protein 11
Synonyms 4930415O20Rik, Tex49
MMRRC Submission
Accession Numbers
Essential gene? Probably non essential (E-score: 0.162) question?
Stock # R9758 (G1)
Quality Score 225.009
Status Not validated
Chromosome 15
Chromosomal Location 98468885-98487461 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 98483264 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Isoleucine at position 65 (L65I)
Ref Sequence ENSEMBL: ENSMUSP00000023728 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000023728] [ENSMUST00000096224]
AlphaFold Q8CDT5
Predicted Effect probably damaging
Transcript: ENSMUST00000023728
AA Change: L65I

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
Predicted Effect probably benign
Transcript: ENSMUST00000096224
SMART Domains Protein: ENSMUSP00000093939
Gene: ENSMUSG00000022994

DomainStartEndE-ValueType
low complexity region 150 166 N/A INTRINSIC
low complexity region 169 177 N/A INTRINSIC
low complexity region 212 228 N/A INTRINSIC
CYCc 331 532 2.95e-63 SMART
Pfam:DUF1053 580 669 3.5e-18 PFAM
transmembrane domain 701 723 N/A INTRINSIC
transmembrane domain 744 763 N/A INTRINSIC
transmembrane domain 815 834 N/A INTRINSIC
transmembrane domain 839 861 N/A INTRINSIC
Blast:CYCc 885 929 5e-20 BLAST
CYCc 939 1147 4.81e-45 SMART
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.7%
  • 10x: 99.3%
  • 20x: 98.5%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 64 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Actc1 T C 2: 113,879,799 (GRCm39) Y220C probably damaging Het
Actmap T C 7: 26,896,655 (GRCm39) S73P possibly damaging Het
Bmper G A 9: 23,286,902 (GRCm39) G276D possibly damaging Het
C2cd5 A T 6: 142,984,613 (GRCm39) M549K probably benign Het
Caprin1 A G 2: 103,606,283 (GRCm39) V319A possibly damaging Het
Cchcr1 G A 17: 35,839,285 (GRCm39) probably null Het
Cdc42bpb A T 12: 111,265,783 (GRCm39) V1383E possibly damaging Het
Cep350 T C 1: 155,770,433 (GRCm39) E1819G probably damaging Het
Ces4a A G 8: 105,869,054 (GRCm39) E163G possibly damaging Het
Chrnd C T 1: 87,118,792 (GRCm39) R50* probably null Het
Cntn3 A G 6: 102,183,511 (GRCm39) S715P probably damaging Het
Creb1 A T 1: 64,598,909 (GRCm39) R95S probably benign Het
Ctdp1 T C 18: 80,492,710 (GRCm39) Y595C probably damaging Het
Cts7 C T 13: 61,504,223 (GRCm39) E86K probably damaging Het
Dazap1 A G 10: 80,113,440 (GRCm39) N113S unknown Het
Dhdds T C 4: 133,727,706 (GRCm39) probably null Het
Dnaaf9 A G 2: 130,554,938 (GRCm39) S998P probably damaging Het
Dnah1 T C 14: 30,985,395 (GRCm39) D3832G probably damaging Het
Drd1 A G 13: 54,207,182 (GRCm39) L344P probably damaging Het
Fam135b G A 15: 71,324,199 (GRCm39) T1256I probably benign Het
Fam234a A T 17: 26,432,627 (GRCm39) D507E probably benign Het
Fbxw16 A T 9: 109,278,169 (GRCm39) I3N probably benign Het
Foxd4 A T 19: 24,877,670 (GRCm39) W177R probably damaging Het
Fyb2 A G 4: 104,802,961 (GRCm39) S288G probably benign Het
Gadl1 A G 9: 115,789,519 (GRCm39) H275R probably benign Het
Gbp5 A G 3: 142,206,366 (GRCm39) T17A probably benign Het
Gm1110 A T 9: 26,800,894 (GRCm39) Y433* probably null Het
Gm6408 C A 5: 146,420,628 (GRCm39) D169E probably benign Het
Gramd2b T A 18: 56,611,972 (GRCm39) V145E probably damaging Het
Grip1 G A 10: 119,874,569 (GRCm39) E778K possibly damaging Het
Hcn1 GCA GCAACA 13: 118,112,305 (GRCm39) probably benign Het
Hif1an G A 19: 44,558,378 (GRCm39) V293M probably damaging Het
Hyal3 A G 9: 107,462,347 (GRCm39) D127G probably damaging Het
Ighg1 T A 12: 113,293,252 (GRCm39) D146V possibly damaging Het
Iws1 T A 18: 32,216,347 (GRCm39) D362E probably damaging Het
Kif21b G A 1: 136,080,961 (GRCm39) E601K probably damaging Het
Kndc1 C A 7: 139,500,620 (GRCm39) P662T possibly damaging Het
Krtap13-1 C T 16: 88,526,229 (GRCm39) T151I probably benign Het
Ndufa10 A T 1: 92,379,752 (GRCm39) I327N probably benign Het
Or10ag53 A G 2: 87,082,439 (GRCm39) I53V possibly damaging Het
Or10z1 A G 1: 174,077,902 (GRCm39) L197P probably damaging Het
Pcdhb14 T C 18: 37,582,040 (GRCm39) V382A probably benign Het
Pex1 A T 5: 3,685,876 (GRCm39) I1206F probably damaging Het
Pi4k2b T A 5: 52,918,331 (GRCm39) D386E probably benign Het
Pik3c2a A G 7: 115,945,427 (GRCm39) F1460L probably damaging Het
Plcb2 A C 2: 118,545,921 (GRCm39) M588R probably damaging Het
Prl7d1 C A 13: 27,893,260 (GRCm39) R216L possibly damaging Het
Psg28 G T 7: 18,156,887 (GRCm39) Y449* probably null Het
Psg28 T A 7: 18,164,602 (GRCm39) T37S probably benign Het
Psmd9 G T 5: 123,372,745 (GRCm39) R76M probably damaging Het
Rfc1 T C 5: 65,459,391 (GRCm39) D189G probably benign Het
Rnf207 A G 4: 152,397,666 (GRCm39) S363P probably benign Het
Sco1 T A 11: 66,949,250 (GRCm39) D239E probably damaging Het
Sec24d C T 3: 123,136,803 (GRCm39) T512M probably damaging Het
Shkbp1 T C 7: 27,046,442 (GRCm39) K441E probably benign Het
Slc44a5 A T 3: 153,959,322 (GRCm39) I338F probably damaging Het
Slc4a3 A T 1: 75,534,319 (GRCm39) I1161F probably damaging Het
Tnfsf9 T A 17: 57,414,355 (GRCm39) L261M probably damaging Het
Trim55 C T 3: 19,699,498 (GRCm39) R77C probably damaging Het
Vmn2r27 A G 6: 124,168,637 (GRCm39) I831T possibly damaging Het
Vwa3b A G 1: 37,081,438 (GRCm39) I60V probably benign Het
Vwf A G 6: 125,603,230 (GRCm39) N860S Het
Zfp54 T A 17: 21,654,149 (GRCm39) N214K probably benign Het
Zfp707 T C 15: 75,845,418 (GRCm39) I94T Het
Other mutations in Spmip11
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00493:Spmip11 APN 15 98,486,425 (GRCm39) unclassified probably benign
IGL02524:Spmip11 APN 15 98,469,006 (GRCm39) critical splice donor site probably null
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
Predicted Primers PCR Primer
(F):5'- TGAATGCCAGAGCGAGCTAG -3'
(R):5'- AAAACACCTCGTATGTTCTTTCCTG -3'

Sequencing Primer
(F):5'- GGAAGGTCCCTATGTGCCTAG -3'
(R):5'- CCTGTTCCAGCTCTGTGC -3'
Posted On 2022-11-14