Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01862:Mapt'

178405

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Mapt

Ensembl Gene

ENSMUSG00000018411

Gene Name

microtubule-associated protein tau

Synonyms

Tau, Mtapt

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL01862

Quality Score

Status

Chromosome

Chromosomal Location

104122216-104222916 bp(+) (GRCm39)

Type of Mutation

intron

DNA Base Change (assembly)

T to A at 104180828 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000114716 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000100347] [ENSMUST00000106988] [ENSMUST00000106989] [ENSMUST00000106992] [ENSMUST00000106993] [ENSMUST00000132245] [ENSMUST00000132977] [ENSMUST00000145227]

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000100347

SMART Domains

Protein: ENSMUSP00000097919
Gene: ENSMUSG00000018411

Domain	Start	End	E-Value	Type
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

Domain	Start	End	E-Value	Type
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

Domain	Start	End	E-Value	Type
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

Domain	Start	End	E-Value	Type
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

Domain	Start	End	E-Value	Type
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

Domain	Start	End	E-Value	Type
low complexity region	76	88	N/A	INTRINSIC
low complexity region	110	121	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000146353

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000138384

Predicted Effect

probably benign
Transcript: ENSMUST00000145227

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
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca8b	G	T	11: 109,837,997 (GRCm39)	S1085*	probably null	Het
Akap9	T	G	5: 4,001,705 (GRCm39)	S94A	probably damaging	Het
Akap9	T	A	5: 4,115,856 (GRCm39)	N3425K	probably damaging	Het
Anapc7	T	A	5: 122,578,182 (GRCm39)	I389N	probably benign	Het
Aqp7	G	A	4: 41,045,321 (GRCm39)	R20*	probably null	Het
Cacna1h	C	T	17: 25,602,457 (GRCm39)	G1524R	probably damaging	Het
Cacng4	T	C	11: 107,685,196 (GRCm39)	Y32C	probably damaging	Het
Cep120	A	C	18: 53,847,839 (GRCm39)	S673R	probably benign	Het
Cep162	T	C	9: 87,135,986 (GRCm39)	E19G	possibly damaging	Het
Cpxm2	C	T	7: 131,661,540 (GRCm39)	V416I	probably benign	Het
Dapk1	A	G	13: 60,874,424 (GRCm39)	T427A	probably benign	Het
Ecm1	A	T	3: 95,641,586 (GRCm39)	D549E	probably benign	Het
Efemp1	T	A	11: 28,871,428 (GRCm39)	N342K	probably damaging	Het
Erc2	T	C	14: 27,993,526 (GRCm39)		probably benign	Het
Fhip2b	C	T	14: 70,825,130 (GRCm39)	R402H	probably benign	Het
Galnt13	T	C	2: 54,747,926 (GRCm39)	V269A	probably damaging	Het
Gm6465	T	G	5: 11,899,020 (GRCm39)	L171R	probably damaging	Het
Gpatch1	A	G	7: 34,994,703 (GRCm39)	V521A	probably benign	Het
Heatr5b	A	T	17: 79,103,914 (GRCm39)	V1087E	possibly damaging	Het
Ikzf2	A	T	1: 69,578,057 (GRCm39)	V484D	probably damaging	Het
Ints4	T	A	7: 97,190,360 (GRCm39)	V953E	probably damaging	Het
Iqce	T	C	5: 140,685,480 (GRCm39)	D15G	possibly damaging	Het
Kif3a	T	A	11: 53,461,368 (GRCm39)	N4K	possibly damaging	Het
Lrch4	A	T	5: 137,635,271 (GRCm39)	I254F	probably damaging	Het
Ly75	A	T	2: 60,129,516 (GRCm39)	V1623D	probably damaging	Het
Mast1	A	T	8: 85,639,875 (GRCm39)		probably null	Het
Mcc	G	T	18: 44,892,363 (GRCm39)	Q84K	probably benign	Het
Mgat4f	G	A	1: 134,318,349 (GRCm39)	V374I	probably benign	Het
Mtfr2	G	A	10: 20,224,149 (GRCm39)	V28M	probably benign	Het
Myh8	T	A	11: 67,180,520 (GRCm39)	Y585*	probably null	Het
Napsa	T	C	7: 44,231,917 (GRCm39)	V202A	probably damaging	Het
Nsd2	A	G	5: 34,001,080 (GRCm39)	K199R	probably null	Het
Ntpcr	C	T	8: 126,462,837 (GRCm39)	A18V	probably benign	Het
Or2aj4	A	T	16: 19,385,426 (GRCm39)	M69K	probably damaging	Het
Or2g25	G	T	17: 37,970,368 (GRCm39)	N285K	probably damaging	Het
Or56b35	T	A	7: 104,963,439 (GRCm39)	I76N	probably damaging	Het
Or5g9	G	T	2: 85,552,472 (GRCm39)	C241F	probably damaging	Het
Or8b9	A	G	9: 37,766,477 (GRCm39)	D121G	probably damaging	Het
Os9	A	G	10: 126,935,573 (GRCm39)	V299A	probably benign	Het
Pcdhb7	T	C	18: 37,476,915 (GRCm39)	S684P	possibly damaging	Het
Phf19	A	C	2: 34,787,067 (GRCm39)		probably null	Het
Pkd1l3	G	A	8: 110,357,908 (GRCm39)		probably null	Het
Pkhd1	A	G	1: 20,429,134 (GRCm39)	I2422T	probably damaging	Het
Plxna2	T	A	1: 194,326,258 (GRCm39)	V64E	possibly damaging	Het
Psme4	T	A	11: 30,762,038 (GRCm39)	C459*	probably null	Het
Ptk6	T	C	2: 180,841,433 (GRCm39)	S159G	probably benign	Het
Rhd	T	C	4: 134,617,650 (GRCm39)	I329T	possibly damaging	Het
Scfd1	A	G	12: 51,492,494 (GRCm39)	Y601C	probably damaging	Het
Shroom3	T	C	5: 93,110,148 (GRCm39)	S1753P	probably damaging	Het
Slc8a1	A	C	17: 81,749,630 (GRCm39)		probably null	Het
Spg7	T	A	8: 123,803,669 (GRCm39)	L233Q	probably damaging	Het
Strip1	C	A	3: 107,529,198 (GRCm39)	R353L	probably damaging	Het
Ubr1	T	C	2: 120,764,823 (GRCm39)	N544D	possibly damaging	Het
Ubr4	A	G	4: 139,204,469 (GRCm39)	T4794A	possibly damaging	Het
Usp24	A	G	4: 106,266,095 (GRCm39)		probably benign	Het
Vmn1r193	A	T	13: 22,403,984 (GRCm39)	C3S	probably benign	Het
Yju2b	G	T	8: 84,987,163 (GRCm39)		probably benign	Het
Zdhhc5	C	T	2: 84,520,836 (GRCm39)	R447H	probably benign	Het
Zfp202	A	G	9: 40,123,124 (GRCm39)	I629V	probably benign	Het
Zfp462	T	A	4: 55,023,441 (GRCm39)	C990S	probably damaging	Het

Other mutations in Mapt

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00090:Mapt	APN	11	104,213,311 (GRCm39)	missense	probably damaging	1.00
IGL00473:Mapt	APN	11	104,178,009 (GRCm39)	missense	probably damaging	1.00
IGL01599:Mapt	APN	11	104,185,741 (GRCm39)	missense	probably damaging	1.00
IGL02315:Mapt	APN	11	104,218,904 (GRCm39)	missense	probably damaging	0.99
IGL03369:Mapt	APN	11	104,173,259 (GRCm39)	missense	probably damaging	1.00
R0040:Mapt	UTSW	11	104,196,224 (GRCm39)	missense	probably damaging	0.97
R0040:Mapt	UTSW	11	104,196,224 (GRCm39)	missense	probably damaging	0.97
R1913:Mapt	UTSW	11	104,218,901 (GRCm39)	missense	probably damaging	1.00
R1918:Mapt	UTSW	11	104,189,325 (GRCm39)	missense	probably benign	0.26
R3423:Mapt	UTSW	11	104,189,548 (GRCm39)	nonsense	probably null
R3425:Mapt	UTSW	11	104,189,548 (GRCm39)	nonsense	probably null
R3831:Mapt	UTSW	11	104,177,961 (GRCm39)	missense	possibly damaging	0.89
R3833:Mapt	UTSW	11	104,177,961 (GRCm39)	missense	possibly damaging	0.89
R4095:Mapt	UTSW	11	104,201,362 (GRCm39)	critical splice donor site	probably null
R4814:Mapt	UTSW	11	104,189,786 (GRCm39)	missense	probably benign	0.04
R4890:Mapt	UTSW	11	104,218,975 (GRCm39)	missense	probably damaging	1.00
R5613:Mapt	UTSW	11	104,193,216 (GRCm39)	missense	possibly damaging	0.82
R6415:Mapt	UTSW	11	104,189,824 (GRCm39)	missense	probably benign	0.01
R6956:Mapt	UTSW	11	104,209,081 (GRCm39)	splice site	probably null
R7395:Mapt	UTSW	11	104,218,949 (GRCm39)	missense	probably damaging	0.99
R7406:Mapt	UTSW	11	104,213,350 (GRCm39)	missense	possibly damaging	0.94
R7547:Mapt	UTSW	11	104,213,138 (GRCm39)	splice site	probably null
R7554:Mapt	UTSW	11	104,189,528 (GRCm39)	missense	probably benign	0.09
R7555:Mapt	UTSW	11	104,189,528 (GRCm39)	missense	probably benign	0.09
R7556:Mapt	UTSW	11	104,189,528 (GRCm39)	missense	probably benign	0.09
R8285:Mapt	UTSW	11	104,189,628 (GRCm39)	missense	probably benign	0.01
R8694:Mapt	UTSW	11	104,189,440 (GRCm39)	missense	probably benign
R8841:Mapt	UTSW	11	104,201,203 (GRCm39)	missense	probably damaging	1.00
R8942:Mapt	UTSW	11	104,173,307 (GRCm39)	critical splice donor site	probably null
R9241:Mapt	UTSW	11	104,189,797 (GRCm39)	missense	probably benign	0.15
R9396:Mapt	UTSW	11	104,189,555 (GRCm39)	missense	possibly damaging	0.50

Posted On

2014-05-07