Incidental Mutation 'IGL00090:Mapt'
ID1121
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 #IGL00090
Quality Score
Status
Chromosome11
Chromosomal Location104231390-104332090 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) C to T at 104322485 bp
ZygosityHeterozygous
Amino Acid Change Serine to Leucine at position 301 (S301L)
Ref Sequence ENSEMBL: ENSMUSP00000102606 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000100347] [ENSMUST00000106988] [ENSMUST00000106989] [ENSMUST00000106992] [ENSMUST00000106993]
Predicted Effect probably damaging
Transcript: ENSMUST00000100347
AA Change: S341L

PolyPhen 2 Score 0.961 (Sensitivity: 0.78; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000097919
Gene: ENSMUSG00000018411
AA Change: S341L

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 damaging
Transcript: ENSMUST00000106988
AA Change: S644L

PolyPhen 2 Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000102601
Gene: ENSMUSG00000018411
AA Change: S644L

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 damaging
Transcript: ENSMUST00000106989
AA Change: S660L

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000102602
Gene: ENSMUSG00000018411
AA Change: S660L

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 damaging
Transcript: ENSMUST00000106992
AA Change: S283L

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000102605
Gene: ENSMUSG00000018411
AA Change: S283L

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 damaging
Transcript: ENSMUST00000106993
AA Change: S301L

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000102606
Gene: ENSMUSG00000018411
AA Change: S301L

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 noncoding transcript
Transcript: ENSMUST00000126820
Predicted Effect noncoding transcript
Transcript: ENSMUST00000144836
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: 51 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4932415D10Rik T G 10: 82,283,752 M4475L probably benign Het
Abcb5 T C 12: 118,890,610 T857A probably benign Het
Abcc9 A T 6: 142,633,190 probably benign Het
Adam11 A G 11: 102,776,831 T709A probably benign Het
Adgre1 A G 17: 57,450,055 I771V probably benign Het
Adgrv1 T G 13: 81,405,408 probably null Het
Adgrv1 C T 13: 81,578,101 D602N probably damaging Het
Adra1d G T 2: 131,561,677 D164E possibly damaging Het
Ago3 A G 4: 126,371,541 L319P probably damaging Het
Aim2 A G 1: 173,455,465 S38G probably benign Het
Apoh A G 11: 108,395,834 D28G probably benign Het
Atm C T 9: 53,524,443 R189K probably damaging Het
Bbs1 T C 19: 4,893,010 T451A probably benign Het
BC034090 T C 1: 155,225,447 D719G possibly damaging Het
Bcr T C 10: 75,157,071 probably benign Het
Bmp2 A T 2: 133,561,027 Q166L probably benign Het
Bms1 A T 6: 118,404,583 S665T probably benign Het
Ccser1 A T 6: 62,380,142 T855S possibly damaging Het
Cfap36 C T 11: 29,222,875 V217M probably benign Het
Clca3b T C 3: 144,836,632 N470D probably damaging Het
Cort A G 4: 149,125,295 F100S probably damaging Het
Cyp4f14 G T 17: 32,914,566 D105E probably benign Het
Dnah1 A G 14: 31,287,873 S1913P probably benign Het
Fam91a1 A T 15: 58,430,735 H308L probably damaging Het
Fbn1 A C 2: 125,324,947 I2016M probably damaging Het
Fibcd1 T A 2: 31,833,874 Q251L possibly damaging Het
Flg2 T A 3: 93,202,109 Y481* probably null Het
Ly9 A T 1: 171,593,451 I624N probably damaging Het
Meiob G A 17: 24,823,629 V144I probably benign Het
Muc4 G A 16: 32,754,086 G1321R probably benign Het
Myo5a T A 9: 75,161,497 C660* probably null Het
Necab3 G T 2: 154,547,568 probably benign Het
Nr2c2ap A G 8: 70,132,629 Y93C probably damaging Het
Nxpe5 A G 5: 138,248,834 D356G probably benign Het
Olfr1331 T A 4: 118,869,287 Y168N probably damaging Het
Olfr225 A T 11: 59,613,321 Y119F possibly damaging Het
Plce1 A G 19: 38,745,788 Q1544R probably damaging Het
Plppr4 T A 3: 117,322,220 T605S probably benign Het
Poglut1 C A 16: 38,542,916 W167L possibly damaging Het
Pou2f1 G T 1: 165,902,298 R162S probably damaging Het
Ptprf A G 4: 118,223,220 probably benign Het
Reln C A 5: 22,039,565 G805V possibly damaging Het
Rexo2 A G 9: 48,474,447 S126P probably damaging Het
Robo4 A G 9: 37,411,104 S844G probably damaging Het
Scn7a A G 2: 66,683,327 probably benign Het
Sdc1 A G 12: 8,790,459 T75A possibly damaging Het
Slc38a4 C T 15: 97,019,809 E12K probably benign Het
Tbck T C 3: 132,743,093 probably null Het
Tex2 A T 11: 106,568,535 V23E probably damaging Het
Zfp770 A G 2: 114,195,932 V552A probably benign Het
Zfyve26 T C 12: 79,249,460 probably benign Het
Other mutations in Mapt
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00473:Mapt APN 11 104287183 missense probably damaging 1.00
IGL01599:Mapt APN 11 104294915 missense probably damaging 1.00
IGL01862:Mapt APN 11 104290002 intron probably benign
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
Posted On2011-07-12