Mutagenetix > Incidental Mutation

Incidental Mutation 'R7691:Map6'

593394

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: 0.135) question?

Stock #

R7691 (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 (GRCm38)

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]

AlphaFold

Q7TSJ2

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: 99.9%
10x: 99.5%
20x: 98.5%

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: 58 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adamts9	A	T	6: 92,796,238	C1763S	probably damaging	Het
Adcy3	T	C	12: 4,206,540	V782A	probably benign	Het
Arhgef17	G	A	7: 100,929,642	R700C	probably damaging	Het
Atxn2l	T	C	7: 126,492,610		probably null	Het
Bach2	A	G	4: 32,580,271	E832G	probably damaging	Het
Brpf3	G	C	17: 28,806,831	A293P	probably damaging	Het
Cacfd1	T	C	2: 27,010,094	L36P	probably damaging	Het
Camsap2	T	C	1: 136,293,004	E268G	probably damaging	Het
Ccnjl	A	T	11: 43,583,201	Q201L	probably benign	Het
Cdan1	A	G	2: 120,729,567	V372A	probably damaging	Het
Cenpf	C	A	1: 189,658,207	E1143*	probably null	Het
Colgalt1	A	T	8: 71,620,754	M340L	probably benign	Het
Crybg3	A	G	16: 59,556,134	Y1586H	not run	Het
Csmd3	A	G	15: 47,741,173	I1058T		Het
Dock1	G	A	7: 135,138,157		probably null	Het
Dzank1	G	A	2: 144,506,171	T225I	probably damaging	Het
Eif3c	G	A	7: 126,551,990	R721W	possibly damaging	Het
Fdps	A	G	3: 89,099,367	V72A	probably benign	Het
Filip1l	A	G	16: 57,572,433	N1128S	probably benign	Het
Fmnl2	T	A	2: 53,101,498	Y342N	unknown	Het
Gria1	A	T	11: 57,236,987	I410F	possibly damaging	Het
Gsdmc4	C	A	15: 63,893,791	S303I	probably damaging	Het
Herc2	C	T	7: 56,191,845	P3491S	probably benign	Het
Hspb11	A	G	4: 107,273,689	I59V	probably benign	Het
Lama2	T	C	10: 27,208,393	H927R	possibly damaging	Het
Lrrc8e	T	C	8: 4,234,534	M253T	probably damaging	Het
Ltn1	G	T	16: 87,398,686	H1317Q	probably damaging	Het
Mki67	C	T	7: 135,701,992	V716I	not run	Het
Mllt10	A	G	2: 18,203,611	S694G	possibly damaging	Het
Mllt10	G	C	2: 18,203,612	S694T	probably null	Het
Mtcl1	A	G	17: 66,380,357	L518S	probably damaging	Het
Olfr1368	G	A	13: 21,142,970	A29V	probably benign	Het
Pcdh10	G	T	3: 45,381,197	D649Y	probably damaging	Het
Pdgfrb	C	T	18: 61,061,268	T39M	probably benign	Het
Pls1	T	C	9: 95,773,673	E342G	probably benign	Het
Pon1	C	T	6: 5,175,819	V235I	probably benign	Het
Rhobtb3	A	T	13: 75,878,937	V439E	probably damaging	Het
Sept8	A	G	11: 53,537,587	T355A	probably benign	Het
Sp110	G	A	1: 85,579,092	R417C	probably benign	Het
Ssc5d	C	T	7: 4,944,169	T1174I	probably benign	Het
Sspo	A	T	6: 48,484,229	T3535S	probably benign	Het
Stk39	A	G	2: 68,471,639	V80A	probably damaging	Het
Sult2b1	T	C	7: 45,735,284	I123V	probably benign	Het
Sv2a	A	T	3: 96,188,411	I348F	probably benign	Het
Taar8b	T	A	10: 24,091,538	R253*	probably null	Het
Tbc1d4	T	C	14: 101,507,641	K183R	probably damaging	Het
Tet2	T	A	3: 133,486,849	D608V	probably damaging	Het
Tnfsf14	T	A	17: 57,194,024	T16S	possibly damaging	Het
Togaram2	A	G	17: 71,716,410	T774A	probably benign	Het
Tshr	C	A	12: 91,497,741	A87E	probably benign	Het
Tsn	T	C	1: 118,309,775	D53G	probably benign	Het
Usp37	TC	T	1: 74,486,760		probably null	Het
Vav2	T	A	2: 27,297,738		probably null	Het
Vmn2r52	T	A	7: 10,159,182	I677F	probably damaging	Het
Vmn2r65	T	A	7: 84,943,643	Y452F	probably benign	Het
Vmn2r79	A	G	7: 87,037,903	R831G	probably damaging	Het
Zfp821	T	C	8: 109,721,239	S71P	probably damaging	Het
Zwilch	T	A	9: 64,156,091	I286F	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
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
R7693: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
R8865:Map6	UTSW	7	99268985	missense	probably benign	0.37
R8953:Map6	UTSW	7	99315871	missense	probably damaging	1.00
R9108:Map6	UTSW	7	99336896	missense	probably damaging	1.00
R9173:Map6	UTSW	7	99268728	missense	probably damaging	1.00
R9613:Map6	UTSW	7	99269177	missense	possibly damaging	0.90
R9654:Map6	UTSW	7	99336959	missense	probably damaging	1.00
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