Mutagenetix > Incidental Mutation

Incidental Mutation 'R7395:Mapt'

573763

Institutional Source

Beutler Lab

Gene Symbol

Mapt

Ensembl Gene

ENSMUSG00000018411

Gene Name

microtubule-associated protein tau

Synonyms

Mtapt, Tau

MMRRC Submission

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R7395 (G1)

Quality Score

182.009

Status

Validated

Chromosome

Chromosomal Location

104231390-104332090 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to C at 104328123 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Alanine at position 352 (D352A)

Ref Sequence

ENSEMBL: ENSMUSP00000102605 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

probably damaging
Transcript: ENSMUST00000100347
AA Change: D410A

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000097919
Gene: ENSMUSG00000018411
AA Change: D410A

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 damaging
Transcript: ENSMUST00000106988
AA Change: D713A

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000102601
Gene: ENSMUSG00000018411
AA Change: D713A

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 damaging
Transcript: ENSMUST00000106989
AA Change: D729A

PolyPhen 2 Score 0.983 (Sensitivity: 0.75; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000102602
Gene: ENSMUSG00000018411
AA Change: D729A

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 damaging
Transcript: ENSMUST00000106992
AA Change: D352A

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000102605
Gene: ENSMUSG00000018411
AA Change: D352A

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 damaging
Transcript: ENSMUST00000106993
AA Change: D370A

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000102606
Gene: ENSMUSG00000018411
AA Change: D370A

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.8%

Validation Efficiency

99% (92/93)

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: 94 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
3830403N18Rik	G	T	X: 56,138,780		probably null	Het
4930433I11Rik	A	T	7: 40,989,678	T13S	probably damaging	Het
Abca13	A	G	11: 9,291,658	I1174V	probably benign	Het
Acoxl	G	A	2: 127,884,416	V237M	probably damaging	Het
Adam33	A	C	2: 131,061,169	W52G	probably benign	Het
Adgrv1	T	C	13: 81,559,348	H1313R	probably damaging	Het
Ap3d1	T	C	10: 80,730,882	T89A	probably benign	Het
Armc8	T	C	9: 99,533,132	E165G	probably damaging	Het
Atp6v1c1	T	C	15: 38,691,705	*383Q	probably null	Het
Atp8b4	A	T	2: 126,375,694	L634Q	possibly damaging	Het
B3glct	A	G	5: 149,725,604		probably null	Het
Bhlhe40	TG	TGG	6: 108,664,857	254	probably null	Het
Bicd2	A	G	13: 49,378,230	D316G	possibly damaging	Het
Bop1	A	T	15: 76,453,841	S610T	probably damaging	Het
Car11	T	A	7: 45,701,321	Y80*	probably null	Het
Ccdc96	T	C	5: 36,485,265	I205T	probably benign	Het
Ces2a	A	G	8: 104,739,641	E390G	probably benign	Het
Cfap54	C	A	10: 92,884,703	V2630L	unknown	Het
Chek2	G	T	5: 110,872,108		probably null	Het
Cntn3	C	T	6: 102,337,394		probably null	Het
Cpne3	A	T	4: 19,528,239	D339E	probably damaging	Het
Crocc2	C	T	1: 93,216,107	Q1403*	probably null	Het
Csnka2ip	G	A	16: 64,479,440	T187I		Het
Ctu1	A	G	7: 43,676,595	H226R	possibly damaging	Het
Cubn	G	T	2: 13,287,064	Q3317K	probably damaging	Het
Cyp17a1	A	G	19: 46,670,695	L169P	probably benign	Het
Dcc	T	A	18: 71,374,569	K911*	probably null	Het
Dcun1d2	G	A	8: 13,278,675	R75*	probably null	Het
Defb19	A	T	2: 152,580,023		probably null	Het
Dffb	A	T	4: 153,969,113	S257R	probably damaging	Het
Dip2c	A	C	13: 9,614,377	N942T	probably damaging	Het
Dnah3	T	A	7: 119,966,251	I169F		Het
Dnah3	T	C	7: 120,060,960	M830V	probably benign	Het
Dnajc5g	G	A	5: 31,111,665	S130N	possibly damaging	Het
Dscaml1	C	A	9: 45,702,405	Q939K	possibly damaging	Het
Evpl	G	C	11: 116,227,079	N761K	possibly damaging	Het
Fbxw8	A	T	5: 118,068,215	I556N	probably damaging	Het
Fry	G	T	5: 150,380,883	M579I	possibly damaging	Het
Ggt7	A	T	2: 155,495,880	M488K	probably benign	Het
Gm6588	A	T	5: 112,450,169	E194V	possibly damaging	Het
Gnpnat1	T	A	14: 45,381,581	H107L	probably benign	Het
Golga2	C	A	2: 32,305,587	P798Q	possibly damaging	Het
Gpr35	G	A	1: 92,983,207	A214T	probably damaging	Het
Greb1	A	T	12: 16,709,430		probably null	Het
Hdac10	G	A	15: 89,128,284	T32I	probably benign	Het
Hkdc1	G	A	10: 62,385,699	T860I	probably damaging	Het
Icam5	C	A	9: 21,035,442	P422Q	possibly damaging	Het
Ispd	A	T	12: 36,501,995	I283F	possibly damaging	Het
Ist1	A	C	8: 109,677,527	S238A	probably benign	Het
Lrig2	T	C	3: 104,497,520	N91D	probably benign	Het
Micall2	G	A	5: 139,716,369	P373L	possibly damaging	Het
Mocs1	A	G	17: 49,454,557	S560G	possibly damaging	Het
Mpo	A	G	11: 87,801,124	D461G	probably damaging	Het
Myo1a	G	T	10: 127,710,440	V271L	probably damaging	Het
Ncoa1	G	A	12: 4,295,188	P720S	not run	Het
Ncr1	T	A	7: 4,338,151	I47N	probably damaging	Het
Ndufb6	G	A	4: 40,277,730	R66C	probably damaging	Het
Obox5	A	T	7: 15,758,743	S208C	probably damaging	Het
Olfr136	A	T	17: 38,335,864	K236*	probably null	Het
Olfr1494	T	C	19: 13,749,138	S11P	probably damaging	Het
Olfr39	T	A	9: 20,286,530	M285K	probably damaging	Het
Olfr501-ps1	T	A	7: 108,508,404	F116Y	unknown	Het
Padi4	A	C	4: 140,761,672	V152G	probably damaging	Het
Pdzd7	A	T	19: 45,037,011	D348E	probably damaging	Het
Pdzph1	T	A	17: 58,879,159	K1212N	possibly damaging	Het
Piezo2	C	T	18: 63,027,563	G2341R	probably damaging	Het
Plb1	A	G	5: 32,353,684	K1298E	probably benign	Het
Prr14l	A	G	5: 32,828,638	L1171P	probably benign	Het
Rab11fip5	T	C	6: 85,341,868	T680A	probably benign	Het
Rev1	A	T	1: 38,088,065	N371K	possibly damaging	Het
Rsf1	CGGCGGCGG	CGGCGGCGGGGGCGGCGG	7: 97,579,926		probably benign	Het
Ryr2	A	G	13: 11,785,111	C917R	probably damaging	Het
Sall1	A	T	8: 89,030,921	S852T	possibly damaging	Het
Serpine2	A	G	1: 79,801,555	F296L	probably damaging	Het
Slc12a6	A	T	2: 112,352,542	N754I	probably damaging	Het
Slc39a6	A	T	18: 24,585,275	L575Q	probably damaging	Het
Smarcc2	T	A	10: 128,485,606	L890Q	probably damaging	Het
Smg5	T	A	3: 88,361,071	V1006D	probably damaging	Het
Ssh2	T	C	11: 77,393,073	V51A	probably damaging	Het
St14	T	C	9: 31,096,899	K547E	probably benign	Het
Stag1	T	G	9: 100,796,728	V234G	probably damaging	Het
Stag3	A	T	5: 138,281,945	Q24L	probably benign	Het
Stra6	T	C	9: 58,141,097	Y158H	probably damaging	Het
Tcstv1	A	T	13: 119,894,130		probably null	Het
Tmem196	G	A	12: 120,011,267	C62Y	probably damaging	Het
Tmem265	T	A	7: 127,564,867	F84L		Het
Tph1	C	T	7: 46,657,203		probably null	Het
Ttn	A	G	2: 76,946,490	I1522T	unknown	Het
Ulk4	T	A	9: 121,255,112	Q129L	probably benign	Het
Usp17la	T	A	7: 104,861,585	S466T	probably benign	Het
Vmn2r31	A	T	7: 7,384,745	V609E	probably damaging	Het
Vmn2r52	C	T	7: 10,170,817	C365Y	probably benign	Het
Zbtb4	A	T	11: 69,776,111	T81S	possibly damaging	Het
Zfp605	A	T	5: 110,112,019		probably benign	Het

Other mutations in Mapt

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH 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
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
R6956:Mapt	UTSW	11	104318255	splice site	probably null
R7406:Mapt	UTSW	11	104322524	missense	possibly damaging	0.94
R7547:Mapt	UTSW	11	104322312	splice site	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
R8285:Mapt	UTSW	11	104298802	missense	probably benign	0.01
R8694:Mapt	UTSW	11	104298614	missense	probably benign
R8841:Mapt	UTSW	11	104310377	missense	probably damaging	1.00
R8942:Mapt	UTSW	11	104282481	critical splice donor site	probably null
R9241:Mapt	UTSW	11	104298971	missense	probably benign	0.15
R9396:Mapt	UTSW	11	104298729	missense	possibly damaging	0.50

Predicted Primers

PCR Primer
(F):5'- AGACTAGCTCTGGTGTATAGAACC -3'
(R):5'- GGTTAGGTGACAAGCAGGTC -3'

Sequencing Primer
(F):5'- CTAGCTCTGGTGTATAGAACCTTATC -3'
(R):5'- ATTATTGACTGCCCTGGG -3'

Posted On

2019-09-13