Mutagenetix > Incidental Mutations

Incidental Mutation 'R3625:Map6'

473187

Institutional Source

Beutler Lab

Gene Symbol

Map6

Ensembl Gene

ENSMUSG00000055407

Gene Name

microtubule-associated protein 6

Synonyms

F-STOP, Mtap6, 2810411E12Rik, STOP

MMRRC Submission

040679-MU

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.133) question?

Stock #

R3625 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

99267447-99337137 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 99269195 bp

Zygosity

Heterozygous

Amino Acid Change

Threonine to Serine at position 189 (T189S)

Ref Sequence

ENSEMBL: ENSMUSP00000146954 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000068973] [ENSMUST00000107100] [ENSMUST00000122101] [ENSMUST00000127492] [ENSMUST00000207883] [ENSMUST00000208605] [ENSMUST00000208924]

Predicted Effect

probably benign
Transcript: ENSMUST00000068973
AA Change: T392S

PolyPhen 2 Score 0.045 (Sensitivity: 0.94; Specificity: 0.83)

SMART Domains

Protein: ENSMUSP00000064787
Gene: ENSMUSG00000055407
AA Change: T392S

Domain	Start	End	E-Value	Type
low complexity region	42	57	N/A	INTRINSIC
low complexity region	93	117	N/A	INTRINSIC
internal_repeat_1	191	306	6.21e-27	PROSPERO
internal_repeat_1	302	398	6.21e-27	PROSPERO
low complexity region	501	525	N/A	INTRINSIC

Predicted Effect

possibly damaging
Transcript: ENSMUST00000107100
AA Change: T189S

PolyPhen 2 Score 0.601 (Sensitivity: 0.87; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000102717
Gene: ENSMUSG00000055407
AA Change: T189S

Domain	Start	End	E-Value	Type
low complexity region	12	26	N/A	INTRINSIC
internal_repeat_1	28	103	5.9e-29	PROSPERO
internal_repeat_1	120	195	5.9e-29	PROSPERO

Predicted Effect

possibly damaging
Transcript: ENSMUST00000122101
AA Change: T392S

PolyPhen 2 Score 0.601 (Sensitivity: 0.87; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000113183
Gene: ENSMUSG00000055407
AA Change: T392S

Domain	Start	End	E-Value	Type
Pfam:STOP	1	184	1.2e-18	PFAM
internal_repeat_1	191	306	1.99e-35	PROSPERO
internal_repeat_1	302	398	1.99e-35	PROSPERO

Predicted Effect

probably benign
Transcript: ENSMUST00000127492
AA Change: T392S

PolyPhen 2 Score 0.045 (Sensitivity: 0.94; Specificity: 0.83)

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000180761

Predicted Effect

probably benign
Transcript: ENSMUST00000207883
AA Change: T392S

PolyPhen 2 Score 0.045 (Sensitivity: 0.94; Specificity: 0.83)

Predicted Effect

possibly damaging
Transcript: ENSMUST00000208605
AA Change: T189S

PolyPhen 2 Score 0.601 (Sensitivity: 0.87; Specificity: 0.91)

Predicted Effect

possibly damaging
Transcript: ENSMUST00000208924
AA Change: T189S

PolyPhen 2 Score 0.601 (Sensitivity: 0.87; Specificity: 0.91)

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000208978

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000209094

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.3%
20x: 95.1%

Validation Efficiency

100% (40/40)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a microtubule-associated protein. The encoded protein is a calmodulin-binding and calmodulin-regulated protein that is involved in microtubule stabilization. Two transcript variants encoding distinct isoforms have been identified for this gene. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a targeted null mutation are devoid of cold-stable microtubules, and exhibit impaired synaptic plasticity, associated with severe behavioral abnormalities that are specifically ameliorated by long-term administration of neuroleptics. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 40 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Arsi	G	A	18: 60,916,651	G202E	probably benign	Het
Atg3	T	A	16: 45,175,261	I119N	probably benign	Het
Cdh12	G	C	15: 21,358,756	V89L	probably damaging	Het
Cdh3	C	A	8: 106,543,678	H396N	probably damaging	Het
Crygs	C	T	16: 22,805,551	G102D	possibly damaging	Het
Dab2ip	C	A	2: 35,643,891	S43*	probably null	Het
Dmxl2	A	G	9: 54,393,643	S2394P	probably benign	Het
F13a1	T	G	13: 36,898,093	N546H	probably benign	Het
Fbn2	T	C	18: 58,061,742	N1449S	probably damaging	Het
Flywch1	T	C	17: 23,760,201		probably benign	Het
Gm10436	T	C	12: 88,175,961	S296G	probably benign	Het
Gm498	T	C	7: 143,871,854	V80A	possibly damaging	Het
Grxcr2	T	A	18: 41,998,818	D62V	probably damaging	Het
Hist1h2bg	T	C	13: 23,571,451		probably benign	Het
Ifnab	A	T	4: 88,690,779	I150N	probably damaging	Het
Igsf8	T	C	1: 172,317,769	V284A	probably benign	Het
Kdm1a	T	C	4: 136,561,108	E388G	possibly damaging	Het
Map3k8	G	A	18: 4,333,965	R376C	probably damaging	Het
Mms22l	T	A	4: 24,505,357	S206T	probably damaging	Het
N4bp1	A	G	8: 86,851,709	L676S	probably damaging	Het
Nkx6-2	A	G	7: 139,582,190	F117S	possibly damaging	Het
Ociad2	C	T	5: 73,323,830	C72Y	probably damaging	Het
Olfr1490	T	A	19: 13,654,982	C184*	probably null	Het
Olfr672	A	T	7: 104,995,984	F307I	probably benign	Het
Pcdhb6	G	T	18: 37,336,140	V21L	probably damaging	Het
Pogk	G	A	1: 166,403,512	T82I	probably damaging	Het
Prkcsh	A	G	9: 22,011,252	E283G	probably null	Het
Prkd3	C	T	17: 78,985,304	R113H	probably damaging	Het
Rabgef1	T	C	5: 130,212,120		probably null	Het
Rec8	T	C	14: 55,622,497	I234T	possibly damaging	Het
Sim1	A	T	10: 50,981,336	H394L	probably benign	Het
Thy1	A	G	9: 44,046,731	E52G	probably damaging	Het
Trav14n-3	A	T	14: 53,370,086	I4F	probably damaging	Het
Trim15	T	C	17: 36,866,876	T76A	possibly damaging	Het
Ttn	A	G	2: 76,768,801	I19288T	probably damaging	Het
Vmn1r6	C	T	6: 57,002,935	T172I	probably damaging	Het
Vmn2r52	A	T	7: 10,159,178	L678Q	probably damaging	Het
Vpreb1	T	C	16: 16,868,804	H74R	probably benign	Het
Yeats4	T	C	10: 117,220,368	I100V	probably benign	Het
Zfp36	C	A	7: 28,378,256	A76S	probably benign	Het

Other mutations in Map6

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
R0035:Map6	UTSW	7	99317608	missense	probably damaging	1.00
R0035:Map6	UTSW	7	99317608	missense	probably damaging	1.00
R0118:Map6	UTSW	7	99317617	missense	possibly damaging	0.53
R0125:Map6	UTSW	7	99335980	splice site	probably null
R0244:Map6	UTSW	7	99336836	missense	probably benign	0.00
R0973:Map6	UTSW	7	99336743	missense	possibly damaging	0.78
R0973:Map6	UTSW	7	99336743	missense	possibly damaging	0.78
R0974:Map6	UTSW	7	99336743	missense	possibly damaging	0.78
R1455:Map6	UTSW	7	99268214	missense	probably damaging	1.00
R1678:Map6	UTSW	7	99268098	missense	probably damaging	1.00
R1696:Map6	UTSW	7	99317457	splice site	probably null
R1866:Map6	UTSW	7	99315876	missense	probably damaging	1.00
R2061:Map6	UTSW	7	99317472	missense	probably damaging	1.00
R3236:Map6	UTSW	7	99336824	missense	probably damaging	1.00
R4044:Map6	UTSW	7	99268049	missense	probably damaging	1.00
R4570:Map6	UTSW	7	99336556	missense	possibly damaging	0.49
R5056:Map6	UTSW	7	99336652	missense	probably benign	0.05
R5065:Map6	UTSW	7	99336710	missense	probably benign	0.02
R5656:Map6	UTSW	7	99336298	missense	probably damaging	1.00
R6101:Map6	UTSW	7	99268107	missense	probably damaging	1.00
R6105:Map6	UTSW	7	99268107	missense	probably damaging	1.00
R6302:Map6	UTSW	7	99336107	missense	probably damaging	0.99
R6450:Map6	UTSW	7	99268038	missense	probably damaging	1.00
R6915:Map6	UTSW	7	99268247	missense	probably damaging	1.00
R7205:Map6	UTSW	7	99269050	missense	probably benign	0.00
R7223:Map6	UTSW	7	99268025	missense	probably damaging	1.00
R7293:Map6	UTSW	7	99336533	missense	possibly damaging	0.49
R7481:Map6	UTSW	7	99269138	missense	possibly damaging	0.57
R7489:Map6	UTSW	7	99268061	missense	probably damaging	1.00

Predicted Primers

Posted On

2017-04-14