Mutagenetix > Incidental Mutations

Incidental Mutation 'R7693:Map6'

593496

Institutional Source

Beutler Lab

Gene Symbol

Map6

Ensembl Gene

ENSMUSG00000055407

Gene Name

microtubule-associated protein 6

Synonyms

F-STOP, Mtap6, 2810411E12Rik, STOP

MMRRC Submission

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.134) question?

Stock #

R7693 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

99267447-99337137 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 99336292 bp

Zygosity

Heterozygous

Amino Acid Change

Leucine to Phenylalanine at position 671 (L671F)

Ref Sequence

ENSEMBL: ENSMUSP00000064787 (fasta)

Gene Model

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

Predicted Effect

possibly damaging
Transcript: ENSMUST00000068973
AA Change: L671F

PolyPhen 2 Score 0.952 (Sensitivity: 0.79; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000064787
Gene: ENSMUSG00000055407
AA Change: L671F

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

probably benign
Transcript: ENSMUST00000107100

SMART Domains

Protein: ENSMUSP00000102717
Gene: ENSMUSG00000055407

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

probably benign
Transcript: ENSMUST00000122101

SMART Domains

Protein: ENSMUSP00000113183
Gene: ENSMUSG00000055407

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

possibly damaging
Transcript: ENSMUST00000207883
AA Change: L671F

PolyPhen 2 Score 0.952 (Sensitivity: 0.79; Specificity: 0.95)

Predicted Effect

probably benign
Transcript: ENSMUST00000208605

Predicted Effect

possibly damaging
Transcript: ENSMUST00000208924
AA Change: L468F

PolyPhen 2 Score 0.952 (Sensitivity: 0.79; Specificity: 0.95)

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.1%

Validation Efficiency

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: 46 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4931409K22Rik	T	C	5: 24,546,628	I541V	probably benign	Het
Abcc8	C	A	7: 46,178,544	S63I	probably damaging	Het
Adcy10	A	G	1: 165,570,771	E1479G	probably benign	Het
Alpl	C	T	4: 137,743,809	G339R	probably damaging	Het
Anapc1	A	G	2: 128,641,537	S1213P	possibly damaging	Het
Aoc3	C	A	11: 101,332,512	H525N	probably benign	Het
Arhgap33	A	T	7: 30,526,112		probably null	Het
Arhgef4	A	G	1: 34,724,141	E826G	probably benign	Het
Art2a-ps	A	T	7: 101,554,849	*161R	probably null	Het
Azi2	A	T	9: 118,047,593	N59I	probably damaging	Het
Cdhr5	T	C	7: 141,271,778	T538A	probably benign	Het
Csnk2b	C	A	17: 35,117,996	G123C	probably null	Het
Dnaja2	G	T	8: 85,540,310	P306Q	probably damaging	Het
Dusp19	A	G	2: 80,617,561	T60A	probably benign	Het
Epm2aip1	G	A	9: 111,272,375	G139S	probably benign	Het
Fer1l4	A	G	2: 156,020,431	F1774S	possibly damaging	Het
Fxyd3	T	A	7: 31,071,173	R66S	probably benign	Het
Gjd2	T	C	2: 114,011,828	N56S	probably damaging	Het
Gmcl1	A	G	6: 86,714,257	I252T	probably benign	Het
Gnl1	T	C	17: 35,988,220	C517R	probably damaging	Het
Grin1	T	A	2: 25,318,667	M74L	possibly damaging	Het
Hinfp	A	G	9: 44,298,345	M244T	probably damaging	Het
Ick	A	G	9: 78,157,726	D306G	probably benign	Het
Kcnma1	T	A	14: 23,367,612	I850F	probably damaging	Het
Kif13a	G	T	13: 46,750,613	T1748N	probably benign	Het
Lama1	C	T	17: 67,817,031	A2817V		Het
Neb	C	T	2: 52,299,569	A770T	probably damaging	Het
Noc2l	T	A	4: 156,240,307	H280Q	probably damaging	Het
Ntrk1	T	C	3: 87,788,426	D205G	probably benign	Het
Olfr1030	A	T	2: 85,984,635	Y265F	probably damaging	Het
Olfr1353	A	T	10: 78,970,303	Y218F	probably damaging	Het
Parp9	A	G	16: 35,956,912	S409G	possibly damaging	Het
Pcnx2	G	A	8: 125,887,125	T529I	probably benign	Het
Popdc3	A	G	10: 45,315,131	S113G	probably benign	Het
Rbm8a	T	C	3: 96,630,308	I25T	probably damaging	Het
Rfc4	A	G	16: 23,127,413	W40R	probably damaging	Het
Rp1	T	C	1: 4,347,403	D1162G	probably damaging	Het
Slc14a2	G	A	18: 78,154,003	A846V	possibly damaging	Het
Spx	A	G	6: 142,414,790	D56G	probably damaging	Het
Tanc2	T	A	11: 105,923,467	N1912K	probably damaging	Het
Tmcc1	T	C	6: 116,024,882	I559V		Het
Tnfaip3	A	G	10: 19,004,780	V513A	probably benign	Het
Ucp3	T	C	7: 100,482,592	F217L	probably benign	Het
Wdr92	T	C	11: 17,212,064	V34A	probably benign	Het
Zc3h11a	A	T	1: 133,645,737	M55K	probably damaging	Het
Zfp316	G	A	5: 143,263,412	T156I	unknown	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
R3625:Map6	UTSW	7	99269195	missense	possibly damaging	0.60
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
R7691:Map6	UTSW	7	99336292	missense	possibly damaging	0.95
R7695:Map6	UTSW	7	99336292	missense	possibly damaging	0.95
R8341:Map6	UTSW	7	99268440	missense	possibly damaging	0.75
Z1176:Map6	UTSW	7	99317660	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- GCCAGGACTGCCAAAAGATC -3'
(R):5'- TCTTCAAAGAGGCCATGATGG -3'

Sequencing Primer
(F):5'- AGATCAAGTTCCTGTAGTCCCAG -3'
(R):5'- GGAGACATGCTGGTCCTTCCTAC -3'

Posted On

2019-11-12