Incidental Mutation 'R8517:Map7'
ID 656213
Institutional Source Beutler Lab
Gene Symbol Map7
Ensembl Gene ENSMUSG00000019996
Gene Name microtubule-associated protein 7
Synonyms E-MAP-115, Mtap7, ste, mshi, mste
MMRRC Submission 067849-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.398) question?
Stock # R8517 (G1)
Quality Score 225.009
Status Not validated
Chromosome 10
Chromosomal Location 20024666-20157336 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 20137581 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 251 (V251A)
Ref Sequence ENSEMBL: ENSMUSP00000111963 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000020173] [ENSMUST00000116259]
AlphaFold no structure available at present
Predicted Effect probably benign
Transcript: ENSMUST00000020173
SMART Domains Protein: ENSMUSP00000020173
Gene: ENSMUSG00000019996

low complexity region 5 17 N/A INTRINSIC
low complexity region 55 85 N/A INTRINSIC
coiled coil region 89 152 N/A INTRINSIC
low complexity region 365 375 N/A INTRINSIC
low complexity region 379 392 N/A INTRINSIC
Pfam:MAP7 447 616 1.1e-59 PFAM
internal_repeat_1 623 658 5.23e-6 PROSPERO
internal_repeat_1 699 736 5.23e-6 PROSPERO
Predicted Effect probably damaging
Transcript: ENSMUST00000116259
AA Change: V251A

PolyPhen 2 Score 0.964 (Sensitivity: 0.78; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000111963
Gene: ENSMUSG00000019996
AA Change: V251A

low complexity region 5 17 N/A INTRINSIC
low complexity region 55 85 N/A INTRINSIC
coiled coil region 89 152 N/A INTRINSIC
low complexity region 365 375 N/A INTRINSIC
low complexity region 379 392 N/A INTRINSIC
Pfam:MAP7 453 611 4.7e-46 PFAM
internal_repeat_1 623 656 2.41e-5 PROSPERO
internal_repeat_1 699 734 2.41e-5 PROSPERO
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.6%
  • 20x: 98.9%
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The product of this gene is a microtubule-associated protein that is predominantly expressed in cells of epithelial origin. Microtubule-associated proteins are thought to be involved in microtubule dynamics, which is essential for cell polarization and differentiation. This protein has been shown to be able to stabilize microtubules, and may serve to modulate microtubule functions. Studies of the related mouse protein also suggested an essential role in microtubule function required for spermatogenesis. Multiple alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2010]
PHENOTYPE: Males homozygous for mutations in this marker are sterile with small, disorganized testes, small epidiymis and seminiferous tubules. They have deformed spermatid nuclei and a block in spermatogenesis. Aberrant microtubules are seen in elongating spermatids and sertoli cells. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 51 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2310002L09Rik A T 4: 73,861,206 (GRCm39) D131E probably damaging Het
Abca17 C A 17: 24,536,207 (GRCm39) V487F probably benign Het
Anapc5 T C 5: 122,959,093 (GRCm39) S41G probably benign Het
Aoc1 C T 6: 48,883,644 (GRCm39) Q507* probably null Het
Ccdc171 G A 4: 83,661,298 (GRCm39) R1136H probably damaging Het
Clspn A G 4: 126,460,012 (GRCm39) D413G probably benign Het
Copz2 A G 11: 96,744,309 (GRCm39) K74E possibly damaging Het
Cpsf4l C A 11: 113,599,651 (GRCm39) A45S probably benign Het
Cr2 T C 1: 194,838,207 (GRCm39) I710V probably benign Het
Csmd2 G A 4: 128,446,479 (GRCm39) R3348Q Het
Dchs2 A G 3: 83,178,419 (GRCm39) I1157M probably damaging Het
Dcst1 A G 3: 89,272,455 (GRCm39) F3L probably benign Het
Dennd5b A C 6: 148,930,619 (GRCm39) C743G probably damaging Het
Dnah6 T C 6: 73,155,440 (GRCm39) E725G probably benign Het
Dnajc3 G T 14: 119,190,589 (GRCm39) G51* probably null Het
Dyrk2 T C 10: 118,696,926 (GRCm39) T111A probably benign Het
F5 T A 1: 164,003,822 (GRCm39) F206I probably damaging Het
Fam217b T A 2: 178,062,565 (GRCm39) S176R probably benign Het
Farsb A T 1: 78,439,933 (GRCm39) L313* probably null Het
Fbh1 A G 2: 11,782,241 (GRCm39) probably null Het
Fgd4 G A 16: 16,240,509 (GRCm39) T740I probably benign Het
Gprc6a G T 10: 51,507,337 (GRCm39) A64D probably benign Het
Gtf3c1 A T 7: 125,253,723 (GRCm39) V1365E probably damaging Het
Hdc C G 2: 126,439,890 (GRCm39) probably null Het
Igkv5-39 T G 6: 69,877,553 (GRCm39) I68L possibly damaging Het
Kcnh2 A T 5: 24,531,636 (GRCm39) V425D probably damaging Het
Kcnj12 T C 11: 60,960,199 (GRCm39) S166P probably benign Het
Krtap16-1 A T 11: 99,876,524 (GRCm39) C293* probably null Het
Myo7b G T 18: 32,100,244 (GRCm39) L1597M possibly damaging Het
Nmu T C 5: 76,493,326 (GRCm39) E82G possibly damaging Het
Nup85 T C 11: 115,455,390 (GRCm39) probably null Het
Nwd2 A G 5: 63,948,925 (GRCm39) N166D probably damaging Het
Or52n2b T A 7: 104,565,681 (GRCm39) H274L possibly damaging Het
Pbrm1 C A 14: 30,789,739 (GRCm39) D784E probably benign Het
Pcdhgb1 T A 18: 37,815,117 (GRCm39) M536K possibly damaging Het
Pml T A 9: 58,127,651 (GRCm39) Q698L possibly damaging Het
Pon1 T C 6: 5,171,769 (GRCm39) Y294C probably benign Het
Rasal2 T C 1: 156,973,849 (GRCm39) probably null Het
Rims1 T A 1: 22,522,246 (GRCm39) H484L probably damaging Het
Rpia C A 6: 70,743,630 (GRCm39) V274L possibly damaging Het
Sart1 A G 19: 5,433,225 (GRCm39) L424P probably damaging Het
Scnm1 A C 3: 95,040,134 (GRCm39) probably null Het
Slfn8 T A 11: 82,894,968 (GRCm39) M613L possibly damaging Het
Snph A G 2: 151,435,641 (GRCm39) V429A probably damaging Het
Tarbp1 T A 8: 127,170,934 (GRCm39) D1022V probably benign Het
Tcof1 G C 18: 60,962,123 (GRCm39) A702G possibly damaging Het
Ttc8 A G 12: 98,909,594 (GRCm39) N100D probably benign Het
Zbtb49 T A 5: 38,357,997 (GRCm39) H752L probably benign Het
Zfp1005 A T 2: 150,110,043 (GRCm39) E244D probably benign Het
Zfp263 T C 16: 3,564,760 (GRCm39) probably null Het
Zfp46 A G 4: 136,018,458 (GRCm39) T431A probably benign Het
Other mutations in Map7
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01456:Map7 APN 10 20,149,550 (GRCm39) missense unknown
IGL03019:Map7 APN 10 20,143,101 (GRCm39) missense unknown
IGL03263:Map7 APN 10 20,121,068 (GRCm39) nonsense probably null
R0893:Map7 UTSW 10 20,149,629 (GRCm39) splice site probably null
R1172:Map7 UTSW 10 20,121,045 (GRCm39) missense probably damaging 1.00
R2097:Map7 UTSW 10 20,122,362 (GRCm39) missense probably damaging 1.00
R2239:Map7 UTSW 10 20,154,028 (GRCm39) missense unknown
R3760:Map7 UTSW 10 20,152,027 (GRCm39) splice site probably benign
R3980:Map7 UTSW 10 20,143,099 (GRCm39) missense unknown
R5009:Map7 UTSW 10 20,137,664 (GRCm39) nonsense probably null
R5397:Map7 UTSW 10 20,149,067 (GRCm39) missense unknown
R5422:Map7 UTSW 10 20,142,512 (GRCm39) missense probably damaging 0.99
R5501:Map7 UTSW 10 20,151,948 (GRCm39) missense unknown
R5664:Map7 UTSW 10 20,143,105 (GRCm39) missense unknown
R5773:Map7 UTSW 10 20,122,390 (GRCm39) missense probably benign 0.22
R6209:Map7 UTSW 10 20,152,026 (GRCm39) splice site probably null
R6438:Map7 UTSW 10 20,143,003 (GRCm39) missense unknown
R6446:Map7 UTSW 10 20,153,979 (GRCm39) missense unknown
R6919:Map7 UTSW 10 20,046,828 (GRCm39) start gained probably benign
R7327:Map7 UTSW 10 20,109,208 (GRCm39) missense unknown
R7440:Map7 UTSW 10 20,137,605 (GRCm39) missense probably damaging 1.00
R7596:Map7 UTSW 10 20,153,927 (GRCm39) missense unknown
R7958:Map7 UTSW 10 20,105,575 (GRCm39) missense unknown
R8524:Map7 UTSW 10 20,142,569 (GRCm39) missense probably benign 0.27
R8977:Map7 UTSW 10 20,145,336 (GRCm39) critical splice donor site probably null
R9164:Map7 UTSW 10 20,122,410 (GRCm39) missense probably benign 0.39
R9453:Map7 UTSW 10 20,153,981 (GRCm39) missense unknown
R9522:Map7 UTSW 10 20,105,642 (GRCm39) missense possibly damaging 0.81
R9574:Map7 UTSW 10 20,153,966 (GRCm39) missense unknown
X0022:Map7 UTSW 10 20,145,328 (GRCm39) missense unknown
Predicted Primers PCR Primer

Sequencing Primer
Posted On 2020-10-20