Mutagenetix > Incidental Mutation

Incidental Mutation 'R4570:Map6'

342079

Institutional Source

Beutler Lab

Gene Symbol

Map6

Ensembl Gene

ENSMUSG00000055407

Gene Name

microtubule-associated protein 6

Synonyms

F-STOP, Mtap6, 2810411E12Rik, STOP

MMRRC Submission

041794-MU

Accession Numbers

Is this an essential gene?

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

Stock #

R4570 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

99267447-99337137 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to G at 99336556 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Serine to Alanine at position 556 (S556A)

Ref Sequence

ENSEMBL: ENSMUSP00000146954 (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: S759A

PolyPhen 2 Score 0.494 (Sensitivity: 0.88; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000064787
Gene: ENSMUSG00000055407
AA Change: S759A

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: S759A

PolyPhen 2 Score 0.494 (Sensitivity: 0.88; Specificity: 0.90)

Predicted Effect

probably benign
Transcript: ENSMUST00000208605

Predicted Effect

possibly damaging
Transcript: ENSMUST00000208924
AA Change: S556A

PolyPhen 2 Score 0.494 (Sensitivity: 0.88; Specificity: 0.90)

Meta Mutation Damage Score

0.1795

Coding Region Coverage

1x: 99.3%
3x: 98.6%
10x: 97.2%
20x: 94.9%

Validation Efficiency

99% (78/79)

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: 71 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca7	A	G	10: 80,006,694	D1154G	probably damaging	Het
Acsl5	T	A	19: 55,291,774	I493N	probably damaging	Het
Adgrf5	T	A	17: 43,445,115	S450T	probably benign	Het
Ak2	T	C	4: 129,002,167	V79A	probably damaging	Het
Alkbh2	C	T	5: 114,124,226	E148K	probably damaging	Het
Arfgef2	C	A	2: 166,856,538	Q643K	probably damaging	Het
Asap3	A	G	4: 136,240,185	D605G	probably damaging	Het
BC067074	T	A	13: 113,318,191	V257D	probably damaging	Het
Ccr5	C	T	9: 124,124,875	Q172*	probably null	Het
Cpxm2	T	C	7: 132,143,706	D130G	probably benign	Het
Cxcl12	T	C	6: 117,168,672	V6A	probably benign	Het
Cyp19a1	G	A	9: 54,193,323	P27S	probably benign	Het
Dmxl1	T	C	18: 49,852,360	Y225H	probably damaging	Het
Dpcr1	T	C	17: 35,637,991	T239A	possibly damaging	Het
Dzip1l	A	T	9: 99,647,168	K317*	probably null	Het
Edil3	A	G	13: 89,131,897		probably benign	Het
Enpep	A	T	3: 129,281,548	I707K	possibly damaging	Het
Fcrlb	A	G	1: 170,912,620		probably null	Het
Flt1	C	T	5: 147,594,613	A847T	probably damaging	Het
Fsd2	T	C	7: 81,559,770	D108G	probably benign	Het
Gemin6	C	T	17: 80,228,069	R153*	probably null	Het
Gldc	T	A	19: 30,174,439	M112L	probably benign	Het
Gm10267	C	T	18: 44,156,425	M79I	probably benign	Het
Gm10803	A	G	2: 93,564,252	Y123C	unknown	Het
Gm28040	C	A	1: 133,329,381		probably benign	Het
Gm8674	T	A	13: 49,902,534		noncoding transcript	Het
Gprasp1	C	T	X: 135,802,843	R1262C	probably damaging	Het
Hba-a2	T	C	11: 32,297,200	Y141H	probably damaging	Het
Hmbox1	T	A	14: 64,823,662	I388F	possibly damaging	Het
Hs6st1	G	T	1: 36,103,547	V188L	possibly damaging	Het
Ipmk	T	G	10: 71,372,739	H118Q	probably benign	Het
Jhy	A	G	9: 40,911,093	I583T	probably benign	Het
Kcna2	A	G	3: 107,104,795	I231V	probably benign	Het
Kcnh7	T	C	2: 62,837,095	T367A	possibly damaging	Het
Kcp	A	T	6: 29,491,848	C197*	probably null	Het
Klra2	C	A	6: 131,243,937	C54F	probably damaging	Het
Lcn9	T	C	2: 25,823,579	L39P	probably benign	Het
Lct	T	C	1: 128,299,904	N1284S	probably benign	Het
Mdn1	C	A	4: 32,741,812	T3861K	probably damaging	Het
Mrps12	A	G	7: 28,739,963	L109P	probably damaging	Het
Mybphl	G	A	3: 108,365,031	C12Y	possibly damaging	Het
Nek9	T	C	12: 85,320,734	K388E	probably damaging	Het
Nvl	A	G	1: 181,144,082	V9A	probably benign	Het
Obscn	T	C	11: 59,006,828		probably null	Het
Olfr90	T	C	17: 37,085,579	I195M	probably damaging	Het
Pik3c3	T	A	18: 30,290,550	I233N	possibly damaging	Het
Pkhd1	T	A	1: 20,381,523	I2183F	probably damaging	Het
Ppara	A	G	15: 85,787,197	I100V	probably benign	Het
Rem2	T	C	14: 54,477,659	S98P	probably damaging	Het
Rpl5-ps2	G	T	2: 154,704,236		noncoding transcript	Het
Scmh1	T	A	4: 120,528,298	H623Q	probably damaging	Het
Scn9a	A	G	2: 66,483,558	S1939P	possibly damaging	Het
Slc6a13	T	C	6: 121,336,142		probably null	Het
Slc7a4	G	A	16: 17,574,277	T431I	probably benign	Het
Snupn	A	G	9: 56,978,062	E217G	probably benign	Het
Spopl	T	A	2: 23,537,485	K212*	probably null	Het
Strn	T	A	17: 78,677,372	T281S	possibly damaging	Het
Supt3	T	A	17: 45,041,229	L265*	probably null	Het
Taf5l	G	A	8: 123,997,550	T510M	probably damaging	Het
Tapbp	C	A	17: 33,926,453	D415E	probably damaging	Het
Tarbp1	A	T	8: 126,452,233	D702E	probably benign	Het
Tfap2c	C	A	2: 172,557,327	P473Q	probably damaging	Het
Tnc	T	C	4: 63,995,672	N1301S	probably damaging	Het
Trim33	A	G	3: 103,330,165	Q179R	probably damaging	Het
Txnrd2	A	G	16: 18,468,804	N335S	probably benign	Het
Uggt1	T	A	1: 36,150,073	D1444V	probably damaging	Het
Ugt3a2	T	C	15: 9,338,721	L57P	probably benign	Het
Vmn2r6	A	T	3: 64,559,647	W144R	probably benign	Het
Vmn2r98	T	A	17: 19,066,092	M284K	probably benign	Het
Zfp558	A	T	9: 18,456,503	C330S	possibly damaging	Het
Zfp703	T	C	8: 26,978,953	V215A	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
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
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'- TCCAGCAAGCACTAAGGATC -3'
(R):5'- ACCACAGGGCTTTGATTCTTTG -3'

Sequencing Primer
(F):5'- GCAAGCACTAAGGATCAAAGCTTC -3'
(R):5'- AGCATGGGACCTTGGTCC -3'

Posted On

2015-09-24