Incidental Mutation 'IGL00769:Spmap1'
ID 8417
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Spmap1
Ensembl Gene ENSMUSG00000018543
Gene Name sperm microtubule associated protein 1
Synonyms 1700001P01Rik
Accession Numbers
Essential gene? Probably non essential (E-score: 0.121) question?
Stock # IGL00769
Quality Score
Status
Chromosome 11
Chromosomal Location 97662307-97666744 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 97662407 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Phenylalanine to Serine at position 155 (F155S)
Ref Sequence ENSEMBL: ENSMUSP00000103202 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000107576]
AlphaFold no structure available at present
Predicted Effect probably damaging
Transcript: ENSMUST00000107576
AA Change: F155S

PolyPhen 2 Score 0.974 (Sensitivity: 0.76; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000103202
Gene: ENSMUSG00000018543
AA Change: F155S

DomainStartEndE-ValueType
Pfam:DUF4542 12 146 5.8e-56 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000120130
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 24 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
9930111J21Rik1 A G 11: 48,839,039 (GRCm39) V516A possibly damaging Het
Ambp G A 4: 63,062,402 (GRCm39) T279I probably damaging Het
Ankrd28 A G 14: 31,465,322 (GRCm39) V285A possibly damaging Het
Arfgef3 A G 10: 18,536,352 (GRCm39) S220P probably benign Het
Atp9b G T 18: 80,956,068 (GRCm39) H129N probably benign Het
Cdh10 C A 15: 18,985,185 (GRCm39) P283Q possibly damaging Het
Cep295 A G 9: 15,237,440 (GRCm39) S1941P probably damaging Het
Dmbt1 T A 7: 130,684,230 (GRCm39) S575R probably damaging Het
Dock11 A G X: 35,267,715 (GRCm39) N796S possibly damaging Het
Enam A T 5: 88,649,343 (GRCm39) Y284F possibly damaging Het
F8 A T X: 74,377,786 (GRCm39) probably benign Het
Fbxo42 C T 4: 140,907,760 (GRCm39) T140M probably damaging Het
Galnt13 G A 2: 54,770,116 (GRCm39) E303K probably benign Het
Minar2 T C 18: 59,205,349 (GRCm39) S88P probably damaging Het
Mrgprb4 T A 7: 47,848,649 (GRCm39) D93V probably benign Het
Msl3 T A X: 167,451,744 (GRCm39) E215V probably damaging Het
Pglyrp3 A T 3: 91,921,929 (GRCm39) probably benign Het
Prdx1 G A 4: 116,550,162 (GRCm39) D115N probably benign Het
Psd3 A T 8: 68,361,331 (GRCm39) probably benign Het
Rundc1 A G 11: 101,325,100 (GRCm39) D602G probably damaging Het
Slc4a1ap T G 5: 31,711,121 (GRCm39) Y742D probably damaging Het
Ugt1a6a C T 1: 88,066,772 (GRCm39) P193S probably damaging Het
Vmn2r96 G A 17: 18,804,081 (GRCm39) V252M probably benign Het
Wdr53 G A 16: 32,075,315 (GRCm39) W173* probably null Het
Other mutations in Spmap1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02372:Spmap1 APN 11 97,666,525 (GRCm39) missense probably damaging 1.00
R1720:Spmap1 UTSW 11 97,662,435 (GRCm39) missense probably damaging 1.00
R3684:Spmap1 UTSW 11 97,666,525 (GRCm39) missense probably damaging 1.00
R4592:Spmap1 UTSW 11 97,662,441 (GRCm39) missense probably damaging 1.00
R5250:Spmap1 UTSW 11 97,663,553 (GRCm39) missense possibly damaging 0.92
R8975:Spmap1 UTSW 11 97,663,572 (GRCm39) missense probably damaging 1.00
R8987:Spmap1 UTSW 11 97,666,510 (GRCm39) missense probably damaging 0.98
R9790:Spmap1 UTSW 11 97,666,594 (GRCm39) missense probably benign 0.07
R9791:Spmap1 UTSW 11 97,666,594 (GRCm39) missense probably benign 0.07
X0020:Spmap1 UTSW 11 97,666,489 (GRCm39) nonsense probably null
X0063:Spmap1 UTSW 11 97,666,631 (GRCm39) missense probably damaging 0.98
Posted On 2012-12-06