Incidental Mutation 'IGL01862:Mapt'
ID178405
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Mapt
Ensembl Gene ENSMUSG00000018411
Gene Namemicrotubule-associated protein tau
SynonymsMtapt, Tau
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL01862
Quality Score
Status
Chromosome11
Chromosomal Location104231390-104332090 bp(+) (GRCm38)
Type of Mutationintron
DNA Base Change (assembly) T to A at 104290002 bp
ZygosityHeterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000114716 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000100347] [ENSMUST00000106988] [ENSMUST00000106989] [ENSMUST00000106992] [ENSMUST00000106993] [ENSMUST00000132245] [ENSMUST00000132977] [ENSMUST00000145227]
Predicted Effect probably benign
Transcript: ENSMUST00000100347
SMART Domains Protein: ENSMUSP00000097919
Gene: ENSMUSG00000018411

DomainStartEndE-ValueType
low complexity region 127 139 N/A INTRINSIC
low complexity region 163 212 N/A INTRINSIC
Pfam:Tubulin-binding 232 263 1.4e-18 PFAM
Pfam:Tubulin-binding 264 294 3.3e-21 PFAM
Pfam:Tubulin-binding 295 325 1.6e-19 PFAM
Pfam:Tubulin-binding 326 357 1e-18 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000106988
SMART Domains Protein: ENSMUSP00000102601
Gene: ENSMUSG00000018411

DomainStartEndE-ValueType
low complexity region 188 202 N/A INTRINSIC
low complexity region 261 274 N/A INTRINSIC
low complexity region 466 515 N/A INTRINSIC
Pfam:Tubulin-binding 535 566 3.5e-19 PFAM
Pfam:Tubulin-binding 567 597 8.6e-22 PFAM
Pfam:Tubulin-binding 598 628 4e-20 PFAM
Pfam:Tubulin-binding 629 660 2.7e-19 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000106989
SMART Domains Protein: ENSMUSP00000102602
Gene: ENSMUSG00000018411

DomainStartEndE-ValueType
low complexity region 204 218 N/A INTRINSIC
low complexity region 277 290 N/A INTRINSIC
low complexity region 482 531 N/A INTRINSIC
Pfam:Tubulin-binding 552 582 1.7e-13 PFAM
Pfam:Tubulin-binding 583 613 6.8e-20 PFAM
Pfam:Tubulin-binding 614 644 2.3e-17 PFAM
Pfam:Tubulin-binding 645 676 3.1e-18 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000106992
SMART Domains Protein: ENSMUSP00000102605
Gene: ENSMUSG00000018411

DomainStartEndE-ValueType
low complexity region 69 81 N/A INTRINSIC
low complexity region 105 154 N/A INTRINSIC
Pfam:Tubulin-binding 174 205 6.1e-19 PFAM
Pfam:Tubulin-binding 206 236 1.5e-21 PFAM
Pfam:Tubulin-binding 237 267 6.9e-20 PFAM
Pfam:Tubulin-binding 268 299 4.7e-19 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000106993
SMART Domains Protein: ENSMUSP00000102606
Gene: ENSMUSG00000018411

DomainStartEndE-ValueType
low complexity region 69 81 N/A INTRINSIC
low complexity region 103 119 N/A INTRINSIC
low complexity region 140 172 N/A INTRINSIC
Pfam:Tubulin-binding 192 223 4.6e-19 PFAM
Pfam:Tubulin-binding 224 254 1.1e-21 PFAM
Pfam:Tubulin-binding 255 285 5.3e-20 PFAM
Pfam:Tubulin-binding 286 317 3.5e-19 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000132245
Predicted Effect probably benign
Transcript: ENSMUST00000132977
SMART Domains Protein: ENSMUSP00000123260
Gene: ENSMUSG00000018411

DomainStartEndE-ValueType
low complexity region 76 88 N/A INTRINSIC
low complexity region 110 121 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000138384
Predicted Effect probably benign
Transcript: ENSMUST00000145227
Predicted Effect noncoding transcript
Transcript: ENSMUST00000146353
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes the microtubule-associated protein tau (MAPT) whose transcript undergoes complex, regulated alternative splicing, giving rise to several mRNA species. MAPT transcripts are differentially expressed in the nervous system, depending on stage of neuronal maturation and neuron type. MAPT gene mutations have been associated with several neurodegenerative disorders such as Alzheimer's disease, Pick's disease, frontotemporal dementia, cortico-basal degeneration and progressive supranuclear palsy. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygous mutants exhibit altered performance in behavioral tests and show mircotubule changes in small-calibre axons. Embryonic hippocampal cultures from mutants exhibit delayed axonal and neuritic maturation. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 60 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4933406M09Rik G A 1: 134,390,611 V374I probably benign Het
Abca8b G T 11: 109,947,171 S1085* probably null Het
Akap9 T G 5: 3,951,705 S94A probably damaging Het
Akap9 T A 5: 4,065,856 N3425K probably damaging Het
Anapc7 T A 5: 122,440,119 I389N probably benign Het
Aqp7 G A 4: 41,045,321 R20* probably null Het
Cacna1h C T 17: 25,383,483 G1524R probably damaging Het
Cacng4 T C 11: 107,794,370 Y32C probably damaging Het
Ccdc130 G T 8: 84,260,534 probably benign Het
Cep120 A C 18: 53,714,767 S673R probably benign Het
Cep162 T C 9: 87,253,933 E19G possibly damaging Het
Cpxm2 C T 7: 132,059,811 V416I probably benign Het
Dapk1 A G 13: 60,726,610 T427A probably benign Het
Ecm1 A T 3: 95,734,273 D549E probably benign Het
Efemp1 T A 11: 28,921,428 N342K probably damaging Het
Erc2 T C 14: 28,271,569 probably benign Het
Fam160b2 C T 14: 70,587,690 R402H probably benign Het
Galnt13 T C 2: 54,857,914 V269A probably damaging Het
Gm6465 T G 5: 11,849,053 L171R probably damaging Het
Gpatch1 A G 7: 35,295,278 V521A probably benign Het
Heatr5b A T 17: 78,796,485 V1087E possibly damaging Het
Ikzf2 A T 1: 69,538,898 V484D probably damaging Het
Ints4 T A 7: 97,541,153 V953E probably damaging Het
Iqce T C 5: 140,699,725 D15G possibly damaging Het
Kif3a T A 11: 53,570,541 N4K possibly damaging Het
Lrch4 A T 5: 137,637,009 I254F probably damaging Het
Ly75 A T 2: 60,299,172 V1623D probably damaging Het
Mast1 A T 8: 84,913,246 probably null Het
Mcc G T 18: 44,759,296 Q84K probably benign Het
Mtfr2 G A 10: 20,348,403 V28M probably benign Het
Myh8 T A 11: 67,289,694 Y585* probably null Het
Napsa T C 7: 44,582,493 V202A probably damaging Het
Nsd2 A G 5: 33,843,736 K199R probably null Het
Ntpcr C T 8: 125,736,098 A18V probably benign Het
Olfr1009 G T 2: 85,722,128 C241F probably damaging Het
Olfr117 G T 17: 37,659,477 N285K probably damaging Het
Olfr169 A T 16: 19,566,676 M69K probably damaging Het
Olfr689 T A 7: 105,314,232 I76N probably damaging Het
Olfr877 A G 9: 37,855,181 D121G probably damaging Het
Os9 A G 10: 127,099,704 V299A probably benign Het
Pcdhb7 T C 18: 37,343,862 S684P possibly damaging Het
Phf19 A C 2: 34,897,055 probably null Het
Pkd1l3 G A 8: 109,631,276 probably null Het
Pkhd1 A G 1: 20,358,910 I2422T probably damaging Het
Plxna2 T A 1: 194,643,950 V64E possibly damaging Het
Psme4 T A 11: 30,812,038 C459* probably null Het
Ptk6 T C 2: 181,199,640 S159G probably benign Het
Rhd T C 4: 134,890,339 I329T possibly damaging Het
Scfd1 A G 12: 51,445,711 Y601C probably damaging Het
Shroom3 T C 5: 92,962,289 S1753P probably damaging Het
Slc8a1 A C 17: 81,442,201 probably null Het
Spg7 T A 8: 123,076,930 L233Q probably damaging Het
Strip1 C A 3: 107,621,882 R353L probably damaging Het
Ubr1 T C 2: 120,934,342 N544D possibly damaging Het
Ubr4 A G 4: 139,477,158 T4794A possibly damaging Het
Usp24 A G 4: 106,408,898 probably benign Het
Vmn1r193 A T 13: 22,219,814 C3S probably benign Het
Zdhhc5 C T 2: 84,690,492 R447H probably benign Het
Zfp202 A G 9: 40,211,828 I629V probably benign Het
Zfp462 T A 4: 55,023,441 C990S probably damaging Het
Other mutations in Mapt
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00090:Mapt APN 11 104322485 missense probably damaging 1.00
IGL00473:Mapt APN 11 104287183 missense probably damaging 1.00
IGL01599:Mapt APN 11 104294915 missense probably damaging 1.00
IGL02315:Mapt APN 11 104328078 missense probably damaging 0.99
IGL03369:Mapt APN 11 104282433 missense probably damaging 1.00
R0040:Mapt UTSW 11 104305398 missense probably damaging 0.97
R0040:Mapt UTSW 11 104305398 missense probably damaging 0.97
R1913:Mapt UTSW 11 104328075 missense probably damaging 1.00
R1918:Mapt UTSW 11 104298499 missense probably benign 0.26
R3423:Mapt UTSW 11 104298722 nonsense probably null
R3425:Mapt UTSW 11 104298722 nonsense probably null
R3831:Mapt UTSW 11 104287135 missense possibly damaging 0.89
R3833:Mapt UTSW 11 104287135 missense possibly damaging 0.89
R4095:Mapt UTSW 11 104310536 critical splice donor site probably null
R4814:Mapt UTSW 11 104298960 missense probably benign 0.04
R4890:Mapt UTSW 11 104328149 missense probably damaging 1.00
R5613:Mapt UTSW 11 104302390 missense possibly damaging 0.82
R6415:Mapt UTSW 11 104298998 missense probably benign 0.01
R6956:Mapt UTSW 11 104318255 splice site probably null
R7395:Mapt UTSW 11 104328123 missense probably damaging 0.99
R7406:Mapt UTSW 11 104322524 missense possibly damaging 0.94
R7547:Mapt UTSW 11 104322312 intron probably null
R7554:Mapt UTSW 11 104298702 missense probably benign 0.09
R7555:Mapt UTSW 11 104298702 missense probably benign 0.09
R7556:Mapt UTSW 11 104298702 missense probably benign 0.09
Posted On2014-05-07