Incidental Mutation 'R3684:Spmap1'
ID 269480
Institutional Source Beutler Lab
Gene Symbol Spmap1
Ensembl Gene ENSMUSG00000018543
Gene Name sperm microtubule associated protein 1
Synonyms 1700001P01Rik
MMRRC Submission 040682-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.121) question?
Stock # R3684 (G1)
Quality Score 225
Status Not validated
Chromosome 11
Chromosomal Location 97662307-97666744 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 97666525 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Asparagine at position 54 (Y54N)
Ref Sequence ENSEMBL: ENSMUSP00000103202 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000103146] [ENSMUST00000107576]
AlphaFold no structure available at present
Predicted Effect probably benign
Transcript: ENSMUST00000103146
SMART Domains Protein: ENSMUSP00000099435
Gene: ENSMUSG00000071415

DomainStartEndE-ValueType
low complexity region 4 11 N/A INTRINSIC
Ribosomal_L14 19 140 2.71e-59 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000107576
AA Change: Y54N

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000103202
Gene: ENSMUSG00000018543
AA Change: Y54N

DomainStartEndE-ValueType
Pfam:DUF4542 12 146 5.8e-56 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000150955
Predicted Effect noncoding transcript
Transcript: ENSMUST00000151118
Predicted Effect noncoding transcript
Transcript: ENSMUST00000183504
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.3%
  • 20x: 95.1%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 35 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adamdec1 C T 14: 68,819,447 (GRCm39) V17I probably benign Het
Ahdc1 T C 4: 132,793,013 (GRCm39) L1418P possibly damaging Het
Atr T C 9: 95,802,453 (GRCm39) S1782P probably damaging Het
Btbd9 T A 17: 30,553,281 (GRCm39) N394Y probably damaging Het
Calb2 A G 8: 110,883,620 (GRCm39) Y35H probably benign Het
Cdon A G 9: 35,400,328 (GRCm39) E1014G possibly damaging Het
Cep83 A G 10: 94,622,687 (GRCm39) T588A probably benign Het
Cfap126 T C 1: 170,941,600 (GRCm39) S32P possibly damaging Het
Clcn7 T C 17: 25,369,567 (GRCm39) L301P possibly damaging Het
Corin T C 5: 72,488,198 (GRCm39) D610G probably damaging Het
Dok3 A G 13: 55,672,306 (GRCm39) S154P probably damaging Het
Ggta1 T A 2: 35,298,000 (GRCm39) T162S probably benign Het
Gldn G A 9: 54,245,624 (GRCm39) E392K possibly damaging Het
Gls A T 1: 52,205,452 (GRCm39) D447E probably damaging Het
Itih5 A T 2: 10,243,435 (GRCm39) N391Y possibly damaging Het
Jchain G A 5: 88,670,398 (GRCm39) P74S probably damaging Het
Lct T C 1: 128,231,963 (GRCm39) M629V probably damaging Het
Lrrn1 T C 6: 107,544,910 (GRCm39) V236A probably benign Het
Mcm3ap T C 10: 76,325,260 (GRCm39) S954P possibly damaging Het
Myh11 T C 16: 14,021,098 (GRCm39) N1725S probably benign Het
Ppcdc C T 9: 57,328,408 (GRCm39) probably null Het
Rhobtb3 A G 13: 76,087,600 (GRCm39) I129T probably damaging Het
Sfxn2 A G 19: 46,579,592 (GRCm39) R252G probably benign Het
Sh2d2a C A 3: 87,759,027 (GRCm39) probably null Het
Sh3gl1 T C 17: 56,325,953 (GRCm39) K159E possibly damaging Het
Slc7a9 A G 7: 35,152,926 (GRCm39) T115A probably benign Het
Synj2 A T 17: 6,078,718 (GRCm39) D1020V probably damaging Het
Tenm2 C A 11: 35,942,644 (GRCm39) V1342L probably benign Het
Tmem127 T A 2: 127,090,652 (GRCm39) I56N possibly damaging Het
Traj7 A G 14: 54,448,938 (GRCm39) probably benign Het
Unc5d A G 8: 29,184,620 (GRCm39) F627L probably damaging Het
Unc79 T A 12: 103,041,062 (GRCm39) N698K probably benign Het
Usp17la A T 7: 104,510,937 (GRCm39) N514I possibly damaging Het
Uvrag A T 7: 98,637,427 (GRCm39) C341S probably damaging Het
Zfp810 T C 9: 22,189,531 (GRCm39) D459G probably benign Het
Other mutations in Spmap1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00769:Spmap1 APN 11 97,662,407 (GRCm39) missense probably damaging 0.97
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
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
Predicted Primers PCR Primer
(F):5'- CTGCTCGCAGAAACAAGAAATG -3'
(R):5'- GCTCCAGAAAGCTCTCAGAC -3'

Sequencing Primer
(F):5'- AGGACCAAATGAGCTCAGC -3'
(R):5'- TCTCAGACTCGAAGACTGCG -3'
Posted On 2015-02-19