Incidental Mutation 'R5664:Map7'
ID 444277
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 043307-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.398) question?
Stock # R5664 (G1)
Quality Score 225
Status Not validated
Chromosome 10
Chromosomal Location 20024666-20157336 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 20143105 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Glutamic Acid at position 418 (V418E)
Ref Sequence ENSEMBL: ENSMUSP00000111963 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000020173] [ENSMUST00000116259]
AlphaFold no structure available at present
Predicted Effect unknown
Transcript: ENSMUST00000020173
AA Change: V410E
SMART Domains Protein: ENSMUSP00000020173
Gene: ENSMUSG00000019996
AA Change: V410E

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 unknown
Transcript: ENSMUST00000116259
AA Change: V418E
SMART Domains Protein: ENSMUSP00000111963
Gene: ENSMUSG00000019996
AA Change: V418E

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: ENSMUST00000215812
Predicted Effect noncoding transcript
Transcript: ENSMUST00000216308
Predicted Effect noncoding transcript
Transcript: ENSMUST00000216474
Predicted Effect noncoding transcript
Transcript: ENSMUST00000217535
Coding Region Coverage
  • 1x: 99.4%
  • 3x: 98.8%
  • 10x: 97.6%
  • 20x: 96.0%
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: 68 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
0610030E20Rik T A 6: 72,325,977 (GRCm39) probably null Het
9430015G10Rik T A 4: 156,208,016 (GRCm39) L112H probably damaging Het
Acaca T C 11: 84,134,210 (GRCm39) L441P probably damaging Het
Ank3 G A 10: 69,838,395 (GRCm39) R1566K possibly damaging Het
Arsj A T 3: 126,232,306 (GRCm39) I351F probably damaging Het
Atp6v1b2 A G 8: 69,560,272 (GRCm39) T373A probably damaging Het
Atr C A 9: 95,787,866 (GRCm39) N1486K probably benign Het
Avl9 T C 6: 56,730,824 (GRCm39) S583P probably damaging Het
Bptf A T 11: 106,964,525 (GRCm39) D1493E probably benign Het
Brme1 A T 8: 84,893,288 (GRCm39) I152F probably benign Het
C2cd2l T C 9: 44,225,069 (GRCm39) E548G probably damaging Het
Capn3 G A 2: 120,307,506 (GRCm39) R15Q probably benign Het
Ccl3 A G 11: 83,540,039 (GRCm39) F22S probably benign Het
Clcf1 T C 19: 4,272,150 (GRCm39) F69S probably damaging Het
Col13a1 T C 10: 61,686,895 (GRCm39) E170G probably damaging Het
Dhx29 T A 13: 113,083,413 (GRCm39) F489L probably damaging Het
Dhx8 A T 11: 101,631,577 (GRCm39) N390I probably damaging Het
Dkk1 T A 19: 30,526,189 (GRCm39) Y135F probably benign Het
Edil3 G T 13: 89,467,832 (GRCm39) V446F probably damaging Het
Epha5 T A 5: 84,479,725 (GRCm39) E93V probably damaging Het
Epsti1 C T 14: 78,201,104 (GRCm39) T196I possibly damaging Het
Fras1 T C 5: 96,876,394 (GRCm39) S2376P possibly damaging Het
Frem2 A G 3: 53,559,911 (GRCm39) V1532A probably benign Het
Fsip2 T A 2: 82,818,439 (GRCm39) M4724K probably benign Het
Gcat T A 15: 78,927,273 (GRCm39) L238Q probably damaging Het
Gimap6 T C 6: 48,679,209 (GRCm39) K276E probably benign Het
Gjb5 T A 4: 127,249,722 (GRCm39) I141F probably benign Het
Glt6d1 T C 2: 25,704,192 (GRCm39) I7V probably benign Het
Gtf2h5 G A 17: 6,134,799 (GRCm39) G30R probably damaging Het
Herc6 C A 6: 57,595,669 (GRCm39) T449K probably benign Het
Hpn A T 7: 30,798,687 (GRCm39) Y132N probably damaging Het
Hpx A T 7: 105,244,355 (GRCm39) M190K probably benign Het
Inf2 A G 12: 112,578,162 (GRCm39) H1151R unknown Het
Krt74 A G 15: 101,669,014 (GRCm39) noncoding transcript Het
Loxl3 G A 6: 83,026,863 (GRCm39) S564N probably benign Het
Mrpl37 T C 4: 106,921,588 (GRCm39) N214D probably benign Het
Mthfr T C 4: 148,139,923 (GRCm39) Y656H probably damaging Het
Myo9b A G 8: 71,812,526 (GRCm39) D2099G probably benign Het
Nktr T A 9: 121,578,483 (GRCm39) C825* probably null Het
Nomo1 A G 7: 45,725,581 (GRCm39) E1029G probably benign Het
Nup133 T C 8: 124,633,020 (GRCm39) D1037G probably benign Het
Or4b12 A G 2: 90,095,959 (GRCm39) F272L probably damaging Het
Or5w22 T C 2: 87,363,178 (GRCm39) L267P probably benign Het
Pcdhb14 T A 18: 37,582,049 (GRCm39) V385D possibly damaging Het
Pik3c2g T C 6: 139,682,733 (GRCm39) L38P probably damaging Het
Pkd1 A T 17: 24,788,345 (GRCm39) D701V probably damaging Het
Pnpla6 A G 8: 3,587,478 (GRCm39) T1070A probably damaging Het
Ppl T C 16: 4,923,919 (GRCm39) D185G probably benign Het
Prp2rt C A 13: 97,235,629 (GRCm39) L39F probably damaging Het
Prss1l C T 6: 41,371,605 (GRCm39) P17L probably benign Het
Prune1 A T 3: 95,165,489 (GRCm39) L261Q probably damaging Het
Qser1 A T 2: 104,608,541 (GRCm39) L1444I probably damaging Het
Serpina6 A C 12: 103,620,726 (GRCm39) C8G probably damaging Het
Sla2 A T 2: 156,716,919 (GRCm39) D180E probably benign Het
Slc4a4 C T 5: 89,176,103 (GRCm39) L25F probably damaging Het
Snhg16 A T 11: 116,563,490 (GRCm39) T27S possibly damaging Het
Tbx3 A G 5: 119,816,796 (GRCm39) K311R possibly damaging Het
Tdpoz6 A G 3: 93,599,994 (GRCm39) F125S probably benign Het
Thbs2 A T 17: 14,910,099 (GRCm39) C167S probably damaging Het
Trak1 T A 9: 121,301,373 (GRCm39) C710S possibly damaging Het
Tsks G A 7: 44,603,208 (GRCm39) E337K probably damaging Het
Vcpip1 A G 1: 9,816,604 (GRCm39) I593T probably damaging Het
Vmn2r118 A G 17: 55,899,765 (GRCm39) I713T possibly damaging Het
Vmn2r23 C T 6: 123,690,033 (GRCm39) T303M probably damaging Het
Vmn2r68 A T 7: 84,882,978 (GRCm39) M258K probably benign Het
Vmn2r76 A G 7: 85,895,202 (GRCm39) probably null Het
Wap A G 11: 6,588,609 (GRCm39) I5T possibly damaging Het
Zfp235 A C 7: 23,841,576 (GRCm39) H665P probably 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
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
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'- AAGTCCATGCCTCATCTGC -3'
(R):5'- AGTGCTTTCATCCCTGAGC -3'

Sequencing Primer
(F):5'- ATGCCTCATCTGCCTGGTAC -3'
(R):5'- TAGTCTAATGTCAAGGCGCC -3'
Posted On 2016-11-09