Mutagenetix > Incidental Mutation

Incidental Mutation 'R4814:Mapt'

369659

Institutional Source

Beutler Lab

Gene Symbol

Mapt

Ensembl Gene

ENSMUSG00000018411

Gene Name

microtubule-associated protein tau

Synonyms

Tau, Mtapt

MMRRC Submission

042432-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R4814 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

104122216-104222916 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 104189786 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 252 (V252A)

Ref Sequence

ENSEMBL: ENSMUSP00000102601 (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
AA Change: V252A

PolyPhen 2 Score 0.044 (Sensitivity: 0.94; Specificity: 0.83)

SMART Domains

Protein: ENSMUSP00000102601
Gene: ENSMUSG00000018411
AA Change: V252A

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
AA Change: V268A

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000102602
Gene: ENSMUSG00000018411
AA Change: V268A

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

Meta Mutation Damage Score

0.1147

Coding Region Coverage

1x: 99.2%
3x: 98.4%
10x: 96.7%
20x: 93.7%

Validation Efficiency

100% (79/79)

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: 72 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abi3bp	T	G	16: 56,471,116 (GRCm39)	V587G	probably benign	Het
Abtb2	A	G	2: 103,547,632 (GRCm39)	D1002G	probably benign	Het
Acap2	A	G	16: 30,926,944 (GRCm39)	S524P	probably benign	Het
Acsm1	A	T	7: 119,254,687 (GRCm39)	I385L	probably benign	Het
Adra1a	C	G	14: 66,875,481 (GRCm39)	A152G	probably benign	Het
Agbl4	A	T	4: 111,513,565 (GRCm39)	Y437F	possibly damaging	Het
Amt	A	G	9: 108,176,979 (GRCm39)	T196A	probably benign	Het
Apobr	G	A	7: 126,185,859 (GRCm39)	V457M	probably benign	Het
Birc6	A	G	17: 74,956,667 (GRCm39)	K3563E	probably damaging	Het
Cdadc1	AGACGGA	AGA	14: 59,806,440 (GRCm39)		probably null	Het
Chrna9	T	C	5: 66,134,492 (GRCm39)	W448R	probably damaging	Het
Cyp4a31	A	T	4: 115,427,466 (GRCm39)	D224V	probably damaging	Het
Ddx10	C	A	9: 53,115,405 (GRCm39)	R643L	possibly damaging	Het
Dip2c	A	G	13: 9,586,896 (GRCm39)	H200R	probably benign	Het
Dnah8	A	T	17: 30,986,898 (GRCm39)	R3182S	probably damaging	Het
Dnase1l1	C	T	X: 73,320,644 (GRCm39)		probably null	Het
Egfr	T	C	11: 16,819,354 (GRCm39)	C295R	probably damaging	Het
Garem1	A	T	18: 21,281,173 (GRCm39)	N394K	probably damaging	Het
Gcat	T	C	15: 78,915,322 (GRCm39)		probably null	Het
Gckr	C	T	5: 31,455,644 (GRCm39)	Q66*	probably null	Het
Gm26996	A	T	6: 130,556,317 (GRCm39)		noncoding transcript	Het
Gm9386	C	A	17: 81,246,141 (GRCm39)		noncoding transcript	Het
Gpr6	A	T	10: 40,947,258 (GRCm39)	M108K	possibly damaging	Het
H2-Q10	A	C	17: 35,784,481 (GRCm39)		probably benign	Het
Hpf1	A	G	8: 61,346,841 (GRCm39)	D52G	probably damaging	Het
Jak2	A	G	19: 29,279,377 (GRCm39)	R989G	probably damaging	Het
Kat7	A	G	11: 95,193,949 (GRCm39)		probably benign	Het
Kcnn3	G	T	3: 89,570,031 (GRCm39)	V615F	probably damaging	Het
Lgi1	G	T	19: 38,289,326 (GRCm39)		probably null	Het
Lrrtm4	A	T	6: 80,000,117 (GRCm39)	T510S	possibly damaging	Het
Map7d1	A	G	4: 126,128,114 (GRCm39)		probably null	Het
Mbd4	A	T	6: 115,826,260 (GRCm39)	S223T	possibly damaging	Het
Meig1	T	A	2: 3,412,959 (GRCm39)	I21L	probably benign	Het
Mia3	A	G	1: 183,113,684 (GRCm39)	Y447H	probably damaging	Het
Mrpl46	A	C	7: 78,430,343 (GRCm39)	N142K	probably benign	Het
Myo18a	C	A	11: 77,750,062 (GRCm39)		probably benign	Het
Nup188	A	G	2: 30,216,523 (GRCm39)	T776A	possibly damaging	Het
Oas1h	C	A	5: 121,000,728 (GRCm39)	H113N	probably damaging	Het
Or6c202	T	A	10: 128,996,245 (GRCm39)	T203S	possibly damaging	Het
Or7g18	A	G	9: 18,787,213 (GRCm39)	I197V	probably benign	Het
Or7g27	C	T	9: 19,250,476 (GRCm39)	T240M	probably damaging	Het
Or9i1b	A	T	19: 13,896,817 (GRCm39)	L144F	possibly damaging	Het
Orc3	T	A	4: 34,572,450 (GRCm39)		probably benign	Het
Osbpl3	T	A	6: 50,329,980 (GRCm39)	L65F	probably damaging	Het
Papola	C	A	12: 105,765,912 (GRCm39)	P4Q	probably damaging	Het
Pepd	A	G	7: 34,645,022 (GRCm39)	N151S	probably damaging	Het
Plekhm2	A	G	4: 141,355,150 (GRCm39)	L959P	probably benign	Het
Prpf40a	A	T	2: 53,080,032 (GRCm39)	H82Q	probably damaging	Het
Robo1	C	T	16: 72,768,923 (GRCm39)	T496M	probably benign	Het
Samd9l	T	G	6: 3,372,863 (GRCm39)	Q1466P	probably damaging	Het
Serpina1a	T	C	12: 103,821,022 (GRCm39)	T342A	probably benign	Het
Serpina3i	A	G	12: 104,231,470 (GRCm39)	T36A	probably benign	Het
Serpinb5	G	T	1: 106,800,069 (GRCm39)	L86F	probably damaging	Het
Slc35g1	A	G	19: 38,391,275 (GRCm39)	S186G	possibly damaging	Het
Slco6d1	T	A	1: 98,350,899 (GRCm39)	D126E	probably benign	Het
Smchd1	A	G	17: 71,718,763 (GRCm39)		probably null	Het
Smpdl3a	C	A	10: 57,687,337 (GRCm39)	T355K	probably damaging	Het
Sntg2	A	G	12: 30,423,267 (GRCm39)		probably benign	Het
Sox14	T	A	9: 99,757,284 (GRCm39)	M152L	probably benign	Het
Spats2l	G	T	1: 57,977,085 (GRCm39)	A308S	possibly damaging	Het
Tcf12	T	C	9: 71,777,323 (GRCm39)		probably benign	Het
Tcf7l2	T	A	19: 55,912,504 (GRCm39)	C478*	probably null	Het
Tekt5	A	G	16: 10,200,771 (GRCm39)	L250P	probably damaging	Het
Tmem132d	T	G	5: 128,061,328 (GRCm39)	I425L	probably benign	Het
Tmem174	T	A	13: 98,773,456 (GRCm39)	I125F	probably damaging	Het
Trafd1	T	G	5: 121,512,079 (GRCm39)	I404L	probably benign	Het
Trpm5	G	A	7: 142,636,373 (GRCm39)	P500S	possibly damaging	Het
Trpm6	T	A	19: 18,839,576 (GRCm39)	N1616K	probably benign	Het
Vmn1r4	A	G	6: 56,933,715 (GRCm39)	D73G	possibly damaging	Het
Vmn2r85	T	A	10: 130,254,567 (GRCm39)	I706F	probably benign	Het
Zc3h14	C	G	12: 98,719,107 (GRCm39)	D157E	probably damaging	Het
Zfp982	A	G	4: 147,597,090 (GRCm39)	Q149R	possibly 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
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
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
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'- TCTCACCGTGGATGAATCATC -3'
(R):5'- TTGAGGAACCCGACTGACTG -3'

Sequencing Primer
(F):5'- GATGAATCATCCCAGGATTCCC -3'
(R):5'- AGGTTCCTGAAGGCTAGCC -3'

Posted On

2016-02-04