Mutagenetix > Incidental Mutation

Incidental Mutation 'R3833:Mapt'

275500

Institutional Source

Beutler Lab

Gene Symbol

Mapt

Ensembl Gene

ENSMUSG00000018411

Gene Name

microtubule-associated protein tau

Synonyms

Tau, Mtapt

MMRRC Submission

040888-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R3833 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

104122216-104222916 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 104177961 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamine to Leucine at position 38 (Q38L)

Ref Sequence

ENSEMBL: ENSMUSP00000097919 (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

possibly damaging
Transcript: ENSMUST00000100347
AA Change: Q38L

PolyPhen 2 Score 0.894 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000097919
Gene: ENSMUSG00000018411
AA Change: Q38L

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

possibly damaging
Transcript: ENSMUST00000106988
AA Change: Q38L

PolyPhen 2 Score 0.679 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000102601
Gene: ENSMUSG00000018411
AA Change: Q38L

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

possibly damaging
Transcript: ENSMUST00000106989
AA Change: Q38L

PolyPhen 2 Score 0.712 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000102602
Gene: ENSMUSG00000018411
AA Change: Q38L

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

possibly damaging
Transcript: ENSMUST00000132245
AA Change: Q38L

PolyPhen 2 Score 0.872 (Sensitivity: 0.83; Specificity: 0.93)

Predicted Effect

possibly damaging
Transcript: ENSMUST00000132977
AA Change: Q38L

PolyPhen 2 Score 0.717 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000123260
Gene: ENSMUSG00000018411
AA Change: Q38L

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: ENSMUST00000138384

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000146353

Predicted Effect

probably benign
Transcript: ENSMUST00000145227

Meta Mutation Damage Score

0.0669

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.7%
20x: 96.4%

Validation Efficiency

97% (70/72)

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: 73 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
9630041A04Rik	G	A	9: 101,820,062 (GRCm39)	G161S	probably damaging	Het
Acp7	T	C	7: 28,314,519 (GRCm39)	D282G	probably benign	Het
Atp10d	T	A	5: 72,396,568 (GRCm39)	C258S	possibly damaging	Het
Atp6ap1	T	C	X: 73,340,813 (GRCm39)	I10T	possibly damaging	Het
Atp6v0d2	T	G	4: 19,922,395 (GRCm39)	N35H	probably damaging	Het
Bcat1	T	A	6: 144,955,834 (GRCm39)	D349V	probably damaging	Het
Cacnb2	A	T	2: 14,986,236 (GRCm39)	I338F	probably damaging	Het
Ccn6	T	C	10: 39,030,945 (GRCm39)	K193E	probably benign	Het
Ccr1	T	C	9: 123,764,324 (GRCm39)	T69A	possibly damaging	Het
Cenpe	T	G	3: 134,928,083 (GRCm39)		probably benign	Het
Cps1	G	A	1: 67,178,946 (GRCm39)	G53R	probably damaging	Het
Cstb	T	C	10: 78,263,184 (GRCm39)	F70L	probably benign	Het
Cyb5d2	G	T	11: 72,686,349 (GRCm39)	S80R	possibly damaging	Het
Cyfip2	T	C	11: 46,152,333 (GRCm39)	D485G	probably benign	Het
Cyp27b1	G	T	10: 126,886,929 (GRCm39)	V382L	probably damaging	Het
Cyp8b1	C	A	9: 121,745,109 (GRCm39)	Q74H	probably benign	Het
Dennd2a	G	A	6: 39,483,651 (GRCm39)	P403L	probably damaging	Het
Dennd2a	G	T	6: 39,483,657 (GRCm39)	S401Y	probably damaging	Het
Dnaaf5	T	C	5: 139,167,320 (GRCm39)	V447A	possibly damaging	Het
Dpp9	A	T	17: 56,506,113 (GRCm39)	F429I	possibly damaging	Het
Gcn1	A	T	5: 115,730,191 (GRCm39)	Q835L	probably benign	Het
Gtf2b	T	A	3: 142,477,153 (GRCm39)	D8E	probably benign	Het
Hao1	A	T	2: 134,364,925 (GRCm39)	V234D	probably damaging	Het
Hephl1	T	C	9: 14,981,044 (GRCm39)	E796G	probably damaging	Het
Herc4	A	G	10: 63,081,739 (GRCm39)	I21V	probably benign	Het
Htt	T	A	5: 34,979,062 (GRCm39)	V815D	probably benign	Het
Iglv2	A	T	16: 19,079,593 (GRCm39)	M1K	probably null	Het
Igsf8	G	T	1: 172,145,837 (GRCm39)	A315S	probably benign	Het
Il1a	T	C	2: 129,148,599 (GRCm39)	D37G	possibly damaging	Het
Iqcb1	T	A	16: 36,652,276 (GRCm39)	C62*	probably null	Het
Itgad	A	T	7: 127,785,405 (GRCm39)	T381S	probably damaging	Het
Itpkb	T	C	1: 180,161,260 (GRCm39)	V462A	probably benign	Het
Kalrn	T	A	16: 33,860,259 (GRCm39)	R199*	probably null	Het
Kif24	G	T	4: 41,395,064 (GRCm39)	A603D	probably damaging	Het
Kif26b	GAAA	GAA	1: 178,744,181 (GRCm39)		probably null	Het
Klrc3	A	G	6: 129,620,181 (GRCm39)	L24P	probably damaging	Het
Lmnb1	A	C	18: 56,861,598 (GRCm39)	D163A	probably benign	Het
Lrrc9	T	C	12: 72,529,765 (GRCm39)	L912P	probably damaging	Het
Mageh1	A	T	X: 151,820,004 (GRCm39)	W111R	probably damaging	Het
Mapk7	A	G	11: 61,380,680 (GRCm39)	S641P	possibly damaging	Het
Med12	C	A	X: 100,339,498 (GRCm39)	P2037Q	possibly damaging	Het
Med22	A	G	2: 26,800,379 (GRCm39)	S17P	probably damaging	Het
Mep1b	C	T	18: 21,219,296 (GRCm39)	T150I	possibly damaging	Het
Mroh1	C	T	15: 76,285,819 (GRCm39)	T71I	probably benign	Het
Nap1l3	A	G	X: 121,305,995 (GRCm39)	V241A	possibly damaging	Het
Pcdhga6	A	T	18: 37,841,479 (GRCm39)	N400Y	probably damaging	Het
Pdgfd	T	C	9: 6,359,762 (GRCm39)	S278P	probably damaging	Het
Pgap1	A	G	1: 54,596,624 (GRCm39)	M39T	probably damaging	Het
Pgc	C	A	17: 48,040,236 (GRCm39)	F93L	probably null	Het
Phf14	A	G	6: 11,933,873 (GRCm39)		probably null	Het
Piezo2	A	G	18: 63,214,733 (GRCm39)		probably null	Het
Pja2	T	C	17: 64,616,397 (GRCm39)	D166G	probably benign	Het
Ppp1r12c	T	A	7: 4,485,785 (GRCm39)		probably benign	Het
Pus3	G	C	9: 35,477,874 (GRCm39)	G369R	probably benign	Het
Rhbdf2	T	A	11: 116,495,250 (GRCm39)	D251V	probably damaging	Het
Rsad1	A	G	11: 94,434,130 (GRCm39)	V366A	probably benign	Het
S100a10	T	C	3: 93,471,680 (GRCm39)	V88A	probably damaging	Het
Scarf1	T	C	11: 75,406,078 (GRCm39)	C121R	probably damaging	Het
Scn7a	A	G	2: 66,528,028 (GRCm39)	S821P	probably damaging	Het
Sco1	T	C	11: 66,944,605 (GRCm39)	V76A	probably damaging	Het
Sdsl	C	A	5: 120,601,183 (GRCm39)	A30S	probably benign	Het
Slc26a6	C	T	9: 108,733,117 (GRCm39)	T32I	possibly damaging	Het
Slit3	A	T	11: 35,579,509 (GRCm39)	S1229C	probably null	Het
Snd1	G	T	6: 28,531,403 (GRCm39)		probably benign	Het
Tdrd3	A	G	14: 87,718,221 (GRCm39)	T201A	probably damaging	Het
Tekt1	T	C	11: 72,245,645 (GRCm39)	N170S	probably benign	Het
Thsd1	T	G	8: 22,733,132 (GRCm39)	S60A	possibly damaging	Het
Tmem121b	C	T	6: 120,469,841 (GRCm39)	G292E	probably damaging	Het
Trim63	A	G	4: 134,048,507 (GRCm39)	N172S	probably benign	Het
Usp24	T	C	4: 106,219,209 (GRCm39)		probably null	Het
Zdhhc16	T	A	19: 41,926,553 (GRCm39)		probably null	Het
Zfp1010	T	C	2: 176,956,998 (GRCm39)	S167G	possibly damaging	Het
Zfp709	G	A	8: 72,642,906 (GRCm39)	V112M	probably benign	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
IGL01862:Mapt	APN	11	104,180,828 (GRCm39)	intron	probably benign
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
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

Predicted Primers

PCR Primer
(F):5'- TCCAAGAACCCCAAGAGTGG -3'
(R):5'- ACTGTTGAGCCAGGCATAG -3'

Sequencing Primer
(F):5'- GAACATGGTTGTGTAAGGGGCAC -3'
(R):5'- GCATCTCAGCCATCAGGATAGG -3'

Posted On

2015-04-06