Incidental Mutation 'IGL02143:Spmip5'
ID 281687
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Spmip5
Ensembl Gene ENSMUSG00000026931
Gene Name sperm microtubule inner protein 5
Synonyms 1700019N19Rik
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # IGL02143
Quality Score
Status
Chromosome 19
Chromosomal Location 58774233-58782846 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to A at 58777684 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Arginine to Leucine at position 34 (R34L)
Ref Sequence ENSEMBL: ENSMUSP00000126241 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000028299] [ENSMUST00000166692]
AlphaFold no structure available at present
Predicted Effect possibly damaging
Transcript: ENSMUST00000028299
AA Change: R42L

PolyPhen 2 Score 0.721 (Sensitivity: 0.86; Specificity: 0.92)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000157331
Predicted Effect noncoding transcript
Transcript: ENSMUST00000165577
Predicted Effect possibly damaging
Transcript: ENSMUST00000166692
AA Change: R34L

PolyPhen 2 Score 0.721 (Sensitivity: 0.86; Specificity: 0.92)
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 52 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abhd5 T C 9: 122,194,278 (GRCm39) M1T probably null Het
Ager G A 17: 34,818,092 (GRCm39) G183E probably damaging Het
Alcam C A 16: 52,125,982 (GRCm39) V112L probably damaging Het
Amot T A X: 144,270,024 (GRCm39) Q204H probably damaging Het
Ankar C T 1: 72,697,808 (GRCm39) probably null Het
Armc9 A G 1: 86,104,587 (GRCm39) M279V possibly damaging Het
Bpifb1 C T 2: 154,051,849 (GRCm39) T218I probably benign Het
Cacna1f A C X: 7,480,234 (GRCm39) probably benign Het
Cacna2d2 T C 9: 107,395,474 (GRCm39) probably null Het
Ccdc57 A T 11: 120,752,069 (GRCm39) C837* probably null Het
Ctbp2 G A 7: 132,592,885 (GRCm39) A808V probably damaging Het
Dcbld2 T C 16: 58,268,889 (GRCm39) probably null Het
Dis3 T C 14: 99,328,754 (GRCm39) probably benign Het
Disp2 T C 2: 118,620,450 (GRCm39) F394S probably damaging Het
Dnah1 T C 14: 31,005,246 (GRCm39) N2336S probably damaging Het
Drap1 C A 19: 5,473,871 (GRCm39) L66F probably damaging Het
Eif5a2 C T 3: 28,847,888 (GRCm39) R109C probably benign Het
Enpp1 A T 10: 24,553,872 (GRCm39) D105E probably damaging Het
Evi5l G A 8: 4,241,293 (GRCm39) M275I probably damaging Het
Flt1 T C 5: 147,515,246 (GRCm39) T1059A probably benign Het
Fndc3c1 T C X: 105,516,340 (GRCm39) probably benign Het
Git1 T C 11: 77,396,813 (GRCm39) V645A possibly damaging Het
Gm7735 T A 16: 88,966,437 (GRCm39) C20* probably null Het
Ighv1-42 G T 12: 114,900,906 (GRCm39) P60T probably benign Het
Jakmip2 A T 18: 43,696,350 (GRCm39) L533Q probably damaging Het
Kdm2b C T 5: 123,085,898 (GRCm39) E238K probably damaging Het
Lpin2 T C 17: 71,550,921 (GRCm39) S694P probably damaging Het
Mab21l2 C T 3: 86,454,562 (GRCm39) R146Q possibly damaging Het
Mmp1b A T 9: 7,386,400 (GRCm39) S174T probably benign Het
Neb T C 2: 52,181,211 (GRCm39) Y1132C probably damaging Het
Nhsl1 A T 10: 18,387,383 (GRCm39) H219L possibly damaging Het
Nwd2 T A 5: 63,948,996 (GRCm39) probably null Het
Obp1a A C X: 77,134,449 (GRCm39) M18R possibly damaging Het
Or13a19 A T 7: 139,903,505 (GRCm39) K298* probably null Het
Or2ag13 T C 7: 106,473,180 (GRCm39) T91A probably benign Het
Pabpc5 T A X: 118,837,688 (GRCm39) M1K probably null Het
Paxip1 A G 5: 27,980,596 (GRCm39) probably benign Het
Perm1 A G 4: 156,302,500 (GRCm39) E348G probably benign Het
Pfkfb1 T C X: 149,405,138 (GRCm39) F170L probably damaging Het
Pou3f3 A G 1: 42,737,686 (GRCm39) M461V probably benign Het
Ppfia2 G A 10: 106,693,360 (GRCm39) D622N probably damaging Het
Prtg T G 9: 72,799,606 (GRCm39) S801R probably damaging Het
Rars2 T A 4: 34,623,404 (GRCm39) probably benign Het
Rasal1 A G 5: 120,790,917 (GRCm39) D35G probably damaging Het
Repin1 T A 6: 48,574,055 (GRCm39) L272Q probably damaging Het
Stk36 T C 1: 74,655,728 (GRCm39) probably benign Het
Tbxa2r A G 10: 81,170,320 (GRCm39) T269A probably benign Het
Tmem132c G A 5: 127,640,466 (GRCm39) R879Q probably benign Het
Vmn1r78 C A 7: 11,886,407 (GRCm39) A6E probably benign Het
Vps45 A T 3: 95,941,133 (GRCm39) N369K probably benign Het
Vps45 T C 3: 95,926,958 (GRCm39) I530V probably benign Het
Zkscan16 G A 4: 58,956,911 (GRCm39) G398R probably damaging Het
Other mutations in Spmip5
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02976:Spmip5 APN 19 58,777,552 (GRCm39) missense probably benign 0.02
ANU05:Spmip5 UTSW 19 58,777,545 (GRCm39) missense probably damaging 1.00
R0001:Spmip5 UTSW 19 58,777,603 (GRCm39) missense probably damaging 0.98
R0894:Spmip5 UTSW 19 58,776,015 (GRCm39) missense probably damaging 1.00
R1725:Spmip5 UTSW 19 58,781,194 (GRCm39) missense probably benign 0.21
R3962:Spmip5 UTSW 19 58,777,541 (GRCm39) missense probably damaging 1.00
R5089:Spmip5 UTSW 19 58,774,678 (GRCm39) missense probably damaging 1.00
R7292:Spmip5 UTSW 19 58,777,539 (GRCm39) nonsense probably null
R7329:Spmip5 UTSW 19 58,777,654 (GRCm39) missense probably damaging 1.00
R7768:Spmip5 UTSW 19 58,781,174 (GRCm39) missense probably damaging 1.00
R8989:Spmip5 UTSW 19 58,776,153 (GRCm39) missense probably damaging 1.00
RF013:Spmip5 UTSW 19 58,777,726 (GRCm39) missense probably damaging 1.00
X0012:Spmip5 UTSW 19 58,774,519 (GRCm39) missense probably benign 0.15
Z1176:Spmip5 UTSW 19 58,776,138 (GRCm39) missense probably damaging 1.00
Posted On 2015-04-16