Mutagenetix > Incidental Mutation

Incidental Mutation 'R9613:Map6'

724383

Institutional Source

Beutler Lab

Gene Symbol

Map6

Ensembl Gene

ENSMUSG00000055407

Gene Name

microtubule-associated protein 6

Synonyms

F-STOP, Mtap6, 2810411E12Rik, STOP

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.135) question?

Stock #

R9613 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

99267447-99337137 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 99269177 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 386 (S386P)

Ref Sequence

ENSEMBL: ENSMUSP00000064787 (fasta)

Gene Model

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

AlphaFold

Q7TSJ2

Predicted Effect

possibly damaging
Transcript: ENSMUST00000068973
AA Change: S386P

PolyPhen 2 Score 0.900 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000064787
Gene: ENSMUSG00000055407
AA Change: S386P

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: S183P

PolyPhen 2 Score 0.858 (Sensitivity: 0.83; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000102717
Gene: ENSMUSG00000055407
AA Change: S183P

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: S386P

PolyPhen 2 Score 0.858 (Sensitivity: 0.83; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000113183
Gene: ENSMUSG00000055407
AA Change: S386P

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: ENSMUST00000127492
AA Change: S386P

PolyPhen 2 Score 0.900 (Sensitivity: 0.82; Specificity: 0.94)

Predicted Effect

possibly damaging
Transcript: ENSMUST00000207883
AA Change: S386P

PolyPhen 2 Score 0.900 (Sensitivity: 0.82; Specificity: 0.94)

Predicted Effect

possibly damaging
Transcript: ENSMUST00000208605
AA Change: S183P

PolyPhen 2 Score 0.858 (Sensitivity: 0.83; Specificity: 0.93)

Predicted Effect

possibly damaging
Transcript: ENSMUST00000208924
AA Change: S183P

PolyPhen 2 Score 0.900 (Sensitivity: 0.82; Specificity: 0.94)

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.9%

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: 52 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1110002E22Rik	G	A	3: 138,065,365	R105H	probably damaging	Het
Baz2b	A	T	2: 59,901,480	N2071K	probably benign	Het
Chd9	C	A	8: 90,956,522	S530*	probably null	Het
Col6a6	G	A	9: 105,739,202	H1558Y	probably benign	Het
Cyp7a1	A	G	4: 6,272,587	F209L	probably damaging	Het
D430041D05Rik	A	G	2: 104,230,392	Y702H	probably benign	Het
Ddx46	T	A	13: 55,639,936		probably null	Het
Dgat2	C	G	7: 99,182,485	G10R	probably benign	Het
Dync2h1	T	A	9: 7,075,769	M3033L	probably damaging	Het
Eef1g	A	G	19: 8,977,654	N367S	probably benign	Het
Eef2kmt	T	G	16: 5,249,408	E94A	possibly damaging	Het
Ermp1	C	A	19: 29,639,856		probably null	Het
Ewsr1	A	C	11: 5,078,924	D346E	unknown	Het
Fam227a	G	A	15: 79,634,083	T340M	probably benign	Het
Fxr1	G	A	3: 34,046,203	V104I	probably benign	Het
Gm12394	A	G	4: 42,792,992	V380A	probably benign	Het
Gm6176	A	G	7: 22,051,104	V134A	possibly damaging	Het
Igdcc4	G	A	9: 65,120,240	V195I	possibly damaging	Het
Ighv2-5	A	G	12: 113,685,569	I88T		Het
Irf8	A	T	8: 120,754,468	T355S	probably benign	Het
Kif20b	T	A	19: 34,942,534	S751T	possibly damaging	Het
Kitl	A	G	10: 100,080,919	N195D	probably damaging	Het
Kmt2d	CTGTTG	CTG	15: 98,845,176		probably benign	Het
Macf1	A	G	4: 123,526,495	F322S	probably benign	Het
Nup214	A	G	2: 32,011,023	D906G	possibly damaging	Het
Oacyl	A	C	18: 65,731,453	T356P	probably damaging	Het
Olfr388-ps1	A	T	11: 73,724,813	D70E	probably damaging	Het
Olfr521	A	G	7: 99,767,329	T56A	probably benign	Het
Plekha1	C	A	7: 130,877,758	P2H	probably damaging	Het
Plekhg4	T	A	8: 105,380,988	D1050E	probably damaging	Het
Plxnb2	T	C	15: 89,164,293	T638A	probably benign	Het
Pole4	T	C	6: 82,652,118	Q89R	probably benign	Het
Prg4	T	C	1: 150,455,909	T338A	unknown	Het
Prpf3	G	A	3: 95,851,619	R74*	probably null	Het
Prss44	C	A	9: 110,814,738	A150E	probably damaging	Het
Prss51	T	A	14: 64,095,012	V2E	possibly damaging	Het
Ptpn12	A	G	5: 20,998,623	Y386H	probably damaging	Het
Sept4	A	T	11: 87,578,997	H3L	possibly damaging	Het
Spata16	G	A	3: 26,878,665	V347M	probably damaging	Het
Spinkl	T	A	18: 44,168,145	Y42F	probably damaging	Het
Suds3	A	T	5: 117,105,169	M168K	possibly damaging	Het
Tdrd6	A	G	17: 43,628,627	I510T	probably damaging	Het
Tnfrsf22	T	C	7: 143,644,846	H44R	probably benign	Het
Trh	G	A	6: 92,242,859	R159*	probably null	Het
Ubr4	C	A	4: 139,421,762	S457R		Het
Usp54	T	C	14: 20,550,370	Y1433C	probably damaging	Het
Vmn1r120	G	A	7: 21,053,121	L222F	probably benign	Het
Vmn2r22	T	C	6: 123,638,116	I172V	probably damaging	Het
Vmn2r84	A	G	10: 130,390,722	S416P	probably damaging	Het
Wapl	T	C	14: 34,731,563	V855A	probably benign	Het
Zmynd19	A	G	2: 24,958,205	I177V		Het
Zscan4e	G	A	7: 11,306,971	Q325*	probably null	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
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
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'- TGCAGATCAGCGTGACACAC -3'
(R):5'- TCTGGAATGTGGCTGAAGAG -3'

Sequencing Primer
(F):5'- CACACGCAGGAAGGCTG -3'
(R):5'- TCTGGCCCTGGAGAAGAAGC -3'

Posted On

2022-09-12