Incidental Mutation 'R5250:Spmap1'
ID 398967
Institutional Source Beutler Lab
Gene Symbol Spmap1
Ensembl Gene ENSMUSG00000018543
Gene Name sperm microtubule associated protein 1
Synonyms 1700001P01Rik
MMRRC Submission 042821-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.121) question?
Stock # R5250 (G1)
Quality Score 225
Status Validated
Chromosome 11
Chromosomal Location 97662307-97666744 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to A at 97663553 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tryptophan to Leucine at position 99 (W99L)
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 possibly damaging
Transcript: ENSMUST00000107576
AA Change: W99L

PolyPhen 2 Score 0.919 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000103202
Gene: ENSMUSG00000018543
AA Change: W99L

DomainStartEndE-ValueType
Pfam:DUF4542 12 146 5.8e-56 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000120130
Meta Mutation Damage Score 0.1160 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.5%
  • 10x: 96.9%
  • 20x: 94.4%
Validation Efficiency 100% (60/60)
Allele List at MGI
Other mutations in this stock
Total: 52 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adamtsl1 A T 4: 86,135,182 (GRCm39) K236* probably null Het
Adgre5 A G 8: 84,460,069 (GRCm39) V109A probably benign Het
Adora2a T C 10: 75,161,882 (GRCm39) I7T probably damaging Het
Ankrd6 A G 4: 32,860,335 (GRCm39) V36A probably damaging Het
Arhgef2 T C 3: 88,540,955 (GRCm39) probably null Het
Atg14 G A 14: 47,805,656 (GRCm39) R70C probably damaging Het
Atg2b G A 12: 105,602,024 (GRCm39) R1651W probably damaging Het
Atp6v0a1 T A 11: 100,933,870 (GRCm39) V553D possibly damaging Het
Bard1 G A 1: 71,113,722 (GRCm39) L420F probably damaging Het
Bcat1 C G 6: 144,993,165 (GRCm39) probably null Het
Bpifb5 A T 2: 154,066,881 (GRCm39) N45Y probably benign Het
Btbd17 G T 11: 114,682,234 (GRCm39) probably benign Het
Ccdc24 T C 4: 117,726,826 (GRCm39) T296A possibly damaging Het
Col11a1 A G 3: 114,010,819 (GRCm39) probably benign Het
Cspg4b A G 13: 113,456,305 (GRCm39) N784D possibly damaging Het
Dhx38 A T 8: 110,283,152 (GRCm39) V555D probably damaging Het
Dixdc1 T G 9: 50,595,035 (GRCm39) E230A possibly damaging Het
Dnah7b T G 1: 46,412,514 (GRCm39) V4041G probably damaging Het
Dnhd1 A T 7: 105,334,968 (GRCm39) I1021L probably damaging Het
Fgl2 A G 5: 21,580,521 (GRCm39) S288G possibly damaging Het
Flt4 T A 11: 49,521,227 (GRCm39) I412N possibly damaging Het
Gabrb1 A G 5: 72,026,922 (GRCm39) I141V possibly damaging Het
Gpc2 A G 5: 138,277,230 (GRCm39) Y66H probably damaging Het
Hoxd3 C T 2: 74,574,650 (GRCm39) Q99* probably null Het
Inpp5d T C 1: 87,637,397 (GRCm39) V781A probably damaging Het
Larp4b T C 13: 9,221,013 (GRCm39) probably benign Het
Lrrfip1 T A 1: 91,043,618 (GRCm39) S674R possibly damaging Het
Megf6 A G 4: 154,340,467 (GRCm39) T561A possibly damaging Het
Mpo A T 11: 87,694,259 (GRCm39) Q83L probably benign Het
Mucl2 T C 15: 103,927,733 (GRCm39) N75D possibly damaging Het
Myh13 C T 11: 67,218,085 (GRCm39) Q53* probably null Het
Myot T A 18: 44,479,137 (GRCm39) D291E probably damaging Het
Nae1 A G 8: 105,257,023 (GRCm39) probably null Het
Ncoa2 A T 1: 13,294,913 (GRCm39) S2R probably damaging Het
Nktr T A 9: 121,578,858 (GRCm39) probably benign Het
Nrxn1 A G 17: 90,842,869 (GRCm39) probably benign Het
Or10aa3 T G 1: 173,878,838 (GRCm39) F300V probably benign Het
Or14j4 A G 17: 37,920,851 (GRCm39) S264P probably damaging Het
Or5an1b T C 19: 12,299,430 (GRCm39) T254A probably benign Het
P2rx2 T C 5: 110,489,454 (GRCm39) E160G probably damaging Het
Pcdhga11 A T 18: 37,890,990 (GRCm39) D666V probably damaging Het
Pcm1 A T 8: 41,765,242 (GRCm39) E1484D probably damaging Het
Pdia4 C T 6: 47,773,619 (GRCm39) A577T possibly damaging Het
Potefam1 T G 2: 111,058,422 (GRCm39) T124P possibly damaging Het
Ppm1e T C 11: 87,121,744 (GRCm39) I738V probably benign Het
Ppp1r13b G T 12: 111,811,394 (GRCm39) R165S probably benign Het
Rasgrp2 T C 19: 6,454,343 (GRCm39) W129R probably damaging Het
Smurf2 A G 11: 106,747,005 (GRCm39) probably null Het
Ubr2 G T 17: 47,241,368 (GRCm39) Q1729K probably benign Het
Zfp260 T A 7: 29,804,392 (GRCm39) H97Q probably damaging Het
Zfp429 G T 13: 67,538,638 (GRCm39) R269S probably benign Het
Zfp568 T C 7: 29,716,655 (GRCm39) V185A 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
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
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'- GGCACGCTAACTGCTATCAC -3'
(R):5'- AAGAAGCCCCAGGAAGTTCG -3'

Sequencing Primer
(F):5'- ACTCCCATATGACAGGATTCTG -3'
(R):5'- AAGTTCGCACGTCACTGCATG -3'
Posted On 2016-07-06