Incidental Mutation 'IGL01590:Spmip2'
ID 91574
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Spmip2
Ensembl Gene ENSMUSG00000091685
Gene Name sperm microtubule inner protein 2
Synonyms Gm17359
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # IGL01590
Quality Score
Status
Chromosome 3
Chromosomal Location 79243968-79371436 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to C at 79356647 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Asparagine to Threonine at position 150 (N150T)
Ref Sequence ENSEMBL: ENSMUSP00000130702 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000164216]
AlphaFold A0A0G2JEB7
Predicted Effect probably damaging
Transcript: ENSMUST00000164216
AA Change: N150T

PolyPhen 2 Score 0.980 (Sensitivity: 0.75; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000130702
Gene: ENSMUSG00000091685
AA Change: N150T

DomainStartEndE-ValueType
Pfam:DUF4562 18 132 1.1e-59 PFAM
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 33 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4921504E06Rik T A 2: 19,482,590 (GRCm39) probably benign Het
Adgrb2 T G 4: 129,907,606 (GRCm39) probably benign Het
Apcs C T 1: 172,722,034 (GRCm39) G104D probably damaging Het
Atp10b G A 11: 43,063,548 (GRCm39) R161H probably benign Het
Cep250 A T 2: 155,834,237 (GRCm39) Q2054L possibly damaging Het
Dennd6a T G 14: 26,340,507 (GRCm39) V207G probably benign Het
Ehbp1 C A 11: 22,045,611 (GRCm39) D688Y possibly damaging Het
Fam83a C A 15: 57,873,173 (GRCm39) S334Y probably damaging Het
Fam83e T A 7: 45,373,360 (GRCm39) F242Y probably null Het
Fnip1 A T 11: 54,384,126 (GRCm39) D341V probably damaging Het
Gpatch3 A G 4: 133,308,028 (GRCm39) probably benign Het
Gpc2 C A 5: 138,272,640 (GRCm39) V558F probably damaging Het
H2-M10.6 A G 17: 37,123,641 (GRCm39) N112D probably benign Het
Hs6st1 A T 1: 36,142,785 (GRCm39) D240V probably damaging Het
Inpp5f T A 7: 128,266,031 (GRCm39) probably null Het
Itga8 G T 2: 12,165,144 (GRCm39) H822N probably damaging Het
Kif20b T A 19: 34,932,126 (GRCm39) N1263K possibly damaging Het
Krt28 A G 11: 99,265,220 (GRCm39) probably null Het
Muc5ac A T 7: 141,352,630 (GRCm39) M706L probably benign Het
Or1j12 A T 2: 36,343,004 (GRCm39) M136L probably benign Het
Or52h9 A C 7: 104,202,782 (GRCm39) I219L probably benign Het
Prox2 A G 12: 85,134,845 (GRCm39) W479R probably damaging Het
Rps19 A T 7: 24,587,881 (GRCm39) D152V probably damaging Het
Slc20a1 G A 2: 129,051,146 (GRCm39) probably benign Het
Slc7a2 C T 8: 41,367,137 (GRCm39) P564S probably damaging Het
Slco1a5 C A 6: 142,196,045 (GRCm39) M319I probably benign Het
Spopfm3 G A 3: 94,105,674 (GRCm39) probably benign Het
Tanc1 A G 2: 59,615,817 (GRCm39) T275A probably benign Het
Tenm3 A G 8: 48,681,837 (GRCm39) S2598P probably damaging Het
Tiparp G A 3: 65,439,397 (GRCm39) E56K probably benign Het
Trpm5 G A 7: 142,636,471 (GRCm39) R489C probably damaging Het
Vmn2r84 C A 10: 130,221,964 (GRCm39) G752V probably damaging Het
Wnt5b T A 6: 119,417,515 (GRCm39) T130S possibly damaging Het
Other mutations in Spmip2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02152:Spmip2 APN 3 79,252,839 (GRCm39) missense possibly damaging 0.92
IGL02170:Spmip2 APN 3 79,356,742 (GRCm39) splice site probably benign
IGL02170:Spmip2 APN 3 79,356,741 (GRCm39) splice site probably benign
IGL02253:Spmip2 APN 3 79,356,742 (GRCm39) splice site probably benign
IGL02253:Spmip2 APN 3 79,356,741 (GRCm39) splice site probably benign
R0139:Spmip2 UTSW 3 79,313,142 (GRCm39) missense probably damaging 1.00
R0499:Spmip2 UTSW 3 79,313,093 (GRCm39) missense probably damaging 1.00
R6048:Spmip2 UTSW 3 79,313,192 (GRCm39) missense probably damaging 1.00
R6408:Spmip2 UTSW 3 79,356,706 (GRCm39) missense probably benign 0.34
R6767:Spmip2 UTSW 3 79,337,330 (GRCm39) missense probably benign 0.00
R7711:Spmip2 UTSW 3 79,313,167 (GRCm39) missense probably damaging 1.00
R8945:Spmip2 UTSW 3 79,252,812 (GRCm39) missense probably benign
R9088:Spmip2 UTSW 3 79,337,429 (GRCm39) missense probably damaging 1.00
R9563:Spmip2 UTSW 3 79,356,616 (GRCm39) missense probably benign 0.00
R9656:Spmip2 UTSW 3 79,313,183 (GRCm39) missense probably benign 0.04
R9687:Spmip2 UTSW 3 79,337,299 (GRCm39) missense possibly damaging 0.85
R9707:Spmip2 UTSW 3 79,313,167 (GRCm39) missense probably damaging 1.00
Posted On 2013-12-09