Incidental Mutation 'R3980:Map7'
ID 311265
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 040843-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.398) question?
Stock # R3980 (G1)
Quality Score 225
Status Not validated
Chromosome 10
Chromosomal Location 20024666-20157336 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to A at 20143099 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Lysine at position 416 (T416K)
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: T408K
SMART Domains Protein: ENSMUSP00000020173
Gene: ENSMUSG00000019996
AA Change: T408K

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: T416K
SMART Domains Protein: ENSMUSP00000111963
Gene: ENSMUSG00000019996
AA Change: T416K

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: 99.1%
  • 3x: 98.5%
  • 10x: 97.2%
  • 20x: 94.8%
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: 66 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adgrb1 G A 15: 74,454,792 (GRCm39) G268R probably damaging Het
Amacr T A 15: 10,989,015 (GRCm39) Y240* probably null Het
Ankhd1 A T 18: 36,780,666 (GRCm39) H1906L probably damaging Het
Arhgef25 C A 10: 127,023,089 (GRCm39) C106F probably damaging Het
Bean1 A T 8: 104,937,730 (GRCm39) Q103L possibly damaging Het
Ccr9 A T 9: 123,608,441 (GRCm39) N41I probably benign Het
Ceacam16 A G 7: 19,592,558 (GRCm39) F117L probably benign Het
Col4a1 T C 8: 11,289,155 (GRCm39) probably benign Het
Csk A G 9: 57,538,063 (GRCm39) Y48H probably damaging Het
Csmd1 T A 8: 15,956,056 (GRCm39) K3384* probably null Het
Ctnnd2 T A 15: 30,669,589 (GRCm39) H399Q probably benign Het
Cutal T C 2: 34,772,325 (GRCm39) Y30H possibly damaging Het
Cybb T C X: 9,310,827 (GRCm39) Y425C probably damaging Het
Dab2 A G 15: 6,464,644 (GRCm39) probably null Het
Defb30 C A 14: 63,273,421 (GRCm39) C64F probably damaging Het
Eif2a T C 3: 58,446,960 (GRCm39) I45T probably benign Het
Esyt1 T A 10: 128,347,393 (GRCm39) D1044V probably damaging Het
Gabpb2 A T 3: 95,096,081 (GRCm39) V382E probably damaging Het
Glb1 T A 9: 114,246,132 (GRCm39) I61K probably damaging Het
Insyn2b G A 11: 34,352,678 (GRCm39) C240Y probably benign Het
Kcnt1 T C 2: 25,783,226 (GRCm39) V263A possibly damaging Het
Kdm5b A G 1: 134,547,408 (GRCm39) D1019G probably benign Het
Klhl2 A T 8: 65,196,109 (GRCm39) L545M probably damaging Het
Klhl2 C A 8: 65,196,115 (GRCm39) G543C probably damaging Het
Krt31 G T 11: 99,939,030 (GRCm39) Q264K probably damaging Het
Lmnb1 A G 18: 56,864,091 (GRCm39) D232G probably damaging Het
Loxhd1 T C 18: 77,501,855 (GRCm39) F859L probably damaging Het
Med18 T A 4: 132,190,251 (GRCm39) I45F probably benign Het
Mn1 A T 5: 111,569,636 (GRCm39) H1202L possibly damaging Het
Mpp7 T C 18: 7,444,062 (GRCm39) D120G probably benign Het
Nlrp1b A T 11: 71,072,437 (GRCm39) F469I possibly damaging Het
Nos3 T A 5: 24,582,929 (GRCm39) D685E probably damaging Het
Nrap G A 19: 56,369,984 (GRCm39) A206V probably benign Het
Nuggc T C 14: 65,856,542 (GRCm39) probably null Het
Oasl1 C T 5: 115,070,957 (GRCm39) T274I probably damaging Het
Or10ak12 T A 4: 118,666,500 (GRCm39) Y187F probably benign Het
Or51a25 T C 7: 102,372,959 (GRCm39) N246S probably damaging Het
Parp3 T C 9: 106,351,267 (GRCm39) D278G probably damaging Het
Phc3 T A 3: 30,991,080 (GRCm39) Q346L probably damaging Het
Pigo A G 4: 43,019,231 (GRCm39) L1029P probably damaging Het
Plcb3 A G 19: 6,943,803 (GRCm39) I66T probably damaging Het
Plch2 T C 4: 155,069,255 (GRCm39) S1019G probably benign Het
Plekhg6 C A 6: 125,350,146 (GRCm39) C264F probably damaging Het
Plxna2 C T 1: 194,431,625 (GRCm39) S538F probably damaging Het
Pou4f2 G T 8: 79,162,067 (GRCm39) H179N possibly damaging Het
Prpf39 T C 12: 65,108,231 (GRCm39) probably benign Het
Rapgef1 G A 2: 29,609,662 (GRCm39) V700I probably benign Het
Rdh14 A G 12: 10,444,703 (GRCm39) I185V probably benign Het
Rnf111 A T 9: 70,349,607 (GRCm39) H785Q probably damaging Het
Rttn C T 18: 89,035,399 (GRCm39) R758W probably benign Het
Sik3 G A 9: 46,113,361 (GRCm39) V601M probably damaging Het
Slc22a14 T C 9: 119,007,552 (GRCm39) T286A probably benign Het
Slc36a3 G A 11: 55,026,209 (GRCm39) T203I probably benign Het
Spata31 A T 13: 65,070,468 (GRCm39) Q872L probably benign Het
Spata31d1c A G 13: 65,182,974 (GRCm39) D172G possibly damaging Het
Sphkap A T 1: 83,245,215 (GRCm39) probably null Het
Stat6 T C 10: 127,491,248 (GRCm39) V463A probably damaging Het
Stx7 T C 10: 24,060,947 (GRCm39) S225P probably damaging Het
Sult2a7 A T 7: 14,207,334 (GRCm39) probably benign Het
Tada2a A T 11: 83,993,946 (GRCm39) F179L probably benign Het
Tas2r103 A G 6: 133,013,280 (GRCm39) L262P probably benign Het
Tfap2d A G 1: 19,236,187 (GRCm39) I382V possibly damaging Het
Tshr C A 12: 91,504,517 (GRCm39) A485D probably damaging Het
Vmn1r32 T A 6: 66,530,698 (GRCm39) Y26F probably damaging Het
Vmn1r5 A G 6: 56,962,636 (GRCm39) T104A probably damaging Het
Wbp1l T A 19: 46,642,396 (GRCm39) probably null 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
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'- ATGCCTCATCTGCCTGGTAC -3'
(R):5'- AAGTGCTTTCATCCCTGAGC -3'

Sequencing Primer
(F):5'- ATCTGCCTGGTACTCCCCG -3'
(R):5'- TAGTCTAATGTCAAGGCGCC -3'
Posted On 2015-04-29