Incidental Mutation 'R3760:Map7'
ID 270508
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 040740-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.398) question?
Stock # R3760 (G1)
Quality Score 185
Status Validated
Chromosome 10
Chromosomal Location 20024666-20157336 bp(+) (GRCm39)
Type of Mutation splice site
DNA Base Change (assembly) T to C at 20152027 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
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

DomainStartEndE-ValueType
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 benign
Transcript: ENSMUST00000116259
SMART Domains Protein: ENSMUSP00000111963
Gene: ENSMUSG00000019996

DomainStartEndE-ValueType
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
Predicted Effect noncoding transcript
Transcript: ENSMUST00000213372
Predicted Effect noncoding transcript
Transcript: ENSMUST00000215889
Predicted Effect noncoding transcript
Transcript: ENSMUST00000216308
Predicted Effect noncoding transcript
Transcript: ENSMUST00000217535
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.6%
  • 10x: 97.3%
  • 20x: 95.2%
Validation Efficiency 100% (33/33)
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: 30 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adgrl2 T C 3: 148,522,871 (GRCm39) E1448G probably damaging Het
Cd109 CATTTATTTATTTATTTATTTATTTATTTATTTAT CATTTATTTATTTATTTATTTATTTATTTATTTATTTAT 9: 78,619,782 (GRCm39) probably benign Het
Ct45a C T X: 55,590,568 (GRCm39) V78I probably benign Het
Ell2 A T 13: 75,910,281 (GRCm39) Q163L probably benign Het
Epha6 T A 16: 60,041,347 (GRCm39) T423S possibly damaging Het
Fhad1 T C 4: 141,637,124 (GRCm39) E1114G probably damaging Het
Gpr83 A T 9: 14,772,034 (GRCm39) T69S probably benign Het
Gramd1c A T 16: 43,818,154 (GRCm39) M342K probably damaging Het
H3c7 T C 13: 23,728,985 (GRCm39) C111R probably damaging Het
Idua T C 5: 108,817,978 (GRCm39) probably benign Het
Kcnh1 T C 1: 192,188,332 (GRCm39) L931P probably damaging Het
Map2 T A 1: 66,478,077 (GRCm39) S470T probably damaging Het
Obscn A G 11: 58,919,406 (GRCm39) L6213P probably damaging Het
Or5b109 T C 19: 13,212,250 (GRCm39) L212P probably damaging Het
Or8k38 G A 2: 86,488,232 (GRCm39) S190L possibly damaging Het
Pcnx4 C T 12: 72,613,780 (GRCm39) T575M probably damaging Het
Ppp1r12a A G 10: 108,100,595 (GRCm39) D348G probably damaging Het
Prrc2c T C 1: 162,520,420 (GRCm39) N730S probably damaging Het
Serpinb3d C T 1: 107,009,304 (GRCm39) probably benign Het
Skint6 T C 4: 112,794,655 (GRCm39) T705A possibly damaging Het
Slc6a20a A G 9: 123,492,054 (GRCm39) I50T probably damaging Het
Taf13 T C 3: 108,485,424 (GRCm39) probably benign Het
Tlr11 A T 14: 50,599,700 (GRCm39) E562V probably damaging Het
Uhrf2 T C 19: 30,051,331 (GRCm39) S302P probably benign Het
Ulk1 C T 5: 110,937,223 (GRCm39) R691Q probably benign Het
Unc79 T A 12: 103,058,964 (GRCm39) L1036Q probably damaging Het
Vmn1r85 A T 7: 12,818,932 (GRCm39) S71T probably damaging Het
Vmn2r-ps158 G A 7: 42,673,502 (GRCm39) E187K probably benign Het
Vps52 T C 17: 34,179,162 (GRCm39) F200L possibly damaging Het
Zfp521 T C 18: 13,977,686 (GRCm39) H909R possibly damaging 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
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
R8517:Map7 UTSW 10 20,137,581 (GRCm39) missense probably damaging 0.96
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
(F):5'- ACAGTCAGGTCAGATATCCAGG -3'
(R):5'- ATGAAGCTGGCTGTAATTTTCC -3'

Sequencing Primer
(F):5'- CAGTCAGGTCAGATATCCAGGTTCTG -3'
(R):5'- GGCTGTAATTTTCCTTAATACGCAC -3'
Posted On 2015-03-18