Mutagenetix > Incidental Mutation

Incidental Mutation 'R1866:Map6'

208723

Institutional Source

Beutler Lab

Gene Symbol

Map6

Ensembl Gene

ENSMUSG00000055407

Gene Name

microtubule-associated protein 6

Synonyms

F-STOP, Mtap6, 2810411E12Rik, STOP

MMRRC Submission

039889-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.127) question?

Stock #

R1866 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

99267447-99337137 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 99315876 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Serine to Glycine at position 291 (S291G)

Ref Sequence

ENSEMBL: ENSMUSP00000146954 (fasta)

Gene Model

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

AlphaFold

Q7TSJ2

Predicted Effect

probably damaging
Transcript: ENSMUST00000068973
AA Change: S494G

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000064787
Gene: ENSMUSG00000055407
AA Change: S494G

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 damaging
Transcript: ENSMUST00000107100
AA Change: S291G

PolyPhen 2 Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000102717
Gene: ENSMUSG00000055407
AA Change: S291G

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 damaging
Transcript: ENSMUST00000122101
AA Change: S494G

PolyPhen 2 Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000113183
Gene: ENSMUSG00000055407
AA Change: S494G

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 damaging
Transcript: ENSMUST00000127492
AA Change: S494G

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)

Predicted Effect

probably damaging
Transcript: ENSMUST00000207883
AA Change: S494G

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)

Predicted Effect

probably damaging
Transcript: ENSMUST00000208605
AA Change: S291G

PolyPhen 2 Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)

Predicted Effect

probably damaging
Transcript: ENSMUST00000208924
AA Change: S291G

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000209094

Coding Region Coverage

1x: 97.4%
3x: 96.8%
10x: 95.3%
20x: 92.6%

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: 92 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Apba1	A	T	19: 23,892,831	E9V	probably benign	Het
Armc8	T	A	9: 99,536,280	T32S	probably benign	Het
Atr	T	A	9: 95,870,605		probably null	Het
Blm	A	G	7: 80,494,114	L859P	probably benign	Het
Cacna2d3	A	T	14: 28,969,214	F51L	probably damaging	Het
Cdcp2	A	G	4: 107,107,000	N349S	probably damaging	Het
Cfap57	G	A	4: 118,599,927	H442Y	possibly damaging	Het
Chrm3	A	G	13: 9,878,481	L173P	probably damaging	Het
Cpb1	C	G	3: 20,263,756	M201I	probably benign	Het
Dgcr8	A	T	16: 18,258,314	N2K	probably damaging	Het
Dnah3	A	T	7: 119,928,856		probably null	Het
Dnah6	T	A	6: 73,100,088	Q2398L	probably benign	Het
Dpep2	A	T	8: 105,989,448		probably null	Het
E430018J23Rik	A	G	7: 127,393,331	W36R	probably damaging	Het
Eif2ak4	C	A	2: 118,472,661	T1504K	probably damaging	Het
Exoc6b	A	G	6: 84,851,914	V496A	probably damaging	Het
Fam174a	A	C	1: 95,313,895	S27R	probably benign	Het
Fat2	T	A	11: 55,292,014	Q1339L	probably benign	Het
Fkbpl	T	A	17: 34,645,823	D188E	possibly damaging	Het
Focad	A	G	4: 88,407,165	D89G	possibly damaging	Het
Fstl4	C	A	11: 53,186,398	Q661K	probably benign	Het
Gck	T	C	11: 5,903,253	Y289C	probably benign	Het
Gm156	A	G	6: 129,775,380		probably null	Het
Gm16181	T	A	17: 35,223,937		probably benign	Het
Herc1	G	A	9: 66,450,791	G2385S	probably damaging	Het
Igfn1	T	C	1: 135,974,868		probably null	Het
Il12b	T	C	11: 44,408,526	W141R	probably damaging	Het
Itga6	T	A	2: 71,834,070	S517T	probably benign	Het
Kank1	A	G	19: 25,411,449	S801G	probably benign	Het
Lctl	A	G	9: 64,131,721	D205G	probably damaging	Het
Lhx3	A	C	2: 26,203,974	V79G	probably damaging	Het
Lrrc9	T	C	12: 72,497,138	I1127T	probably damaging	Het
Ltbp3	A	T	19: 5,747,849	E505D	probably benign	Het
Man1c1	G	C	4: 134,703,438	P11R	probably damaging	Het
Mapk7	A	G	11: 61,489,413	F671L	probably benign	Het
Mau2	A	G	8: 70,031,492	W149R	probably damaging	Het
Mb21d2	C	T	16: 28,828,515	V236I	possibly damaging	Het
Mc5r	C	G	18: 68,338,670		probably null	Het
Mical1	C	A	10: 41,485,470	P797Q	probably benign	Het
Mnx1	G	A	5: 29,474,045	R347C	unknown	Het
Mslnl	G	A	17: 25,742,934	V128M	probably damaging	Het
Nlrp2	G	T	7: 5,327,716	C560*	probably null	Het
Npat	T	A	9: 53,563,116	L736H	probably damaging	Het
Nup155	T	A	15: 8,115,526	V147E	probably damaging	Het
Nxpe2	A	G	9: 48,326,821	F45L	probably benign	Het
Obscn	T	C	11: 59,060,915	D4370G	probably benign	Het
Olfr1000	T	A	2: 85,608,844	H22L	probably benign	Het
Olfr1047	A	C	2: 86,228,728	M81R	probably damaging	Het
Olfr1252	T	C	2: 89,721,206	K302E	probably benign	Het
Olfr1260	T	C	2: 89,978,327	L183S	probably damaging	Het
Olfr1425	A	G	19: 12,073,819	V271A	probably benign	Het
Olfr1532-ps1	A	G	7: 106,915,066	I289M	probably damaging	Het
Olfr658	A	G	7: 104,644,797	S190P	probably benign	Het
Pcx	T	C	19: 4,621,221	I1157T	possibly damaging	Het
Pias2	T	A	18: 77,152,716	S589R	probably benign	Het
Plcb1	T	C	2: 135,344,173	F687L	probably benign	Het
Plk5	G	T	10: 80,360,569		probably null	Het
Pnpla2	T	A	7: 141,455,416	Y44N	probably damaging	Het
Ppp1r12a	T	A	10: 108,262,431	D337E	possibly damaging	Het
Prl2c5	G	T	13: 13,190,773		probably null	Het
Prom2	T	C	2: 127,536,594	D460G	probably damaging	Het
Pros1	A	G	16: 62,928,135	H657R	possibly damaging	Het
Prune2	A	G	19: 17,123,492	E2120G	probably damaging	Het
Rap2a	T	A	14: 120,478,935	L70Q	probably damaging	Het
Rbl2	A	T	8: 91,112,529	E858D	probably benign	Het
Rbm48	T	C	5: 3,595,997	Y69C	probably damaging	Het
Rgs12	T	A	5: 34,965,674	I267N	probably damaging	Het
Rpusd2	G	T	2: 119,035,247	A142S	probably benign	Het
Rspo2	A	T	15: 43,075,936	W153R	probably damaging	Het
Sdk2	C	T	11: 113,838,646		silent	Het
Serinc5	T	A	13: 92,706,263	M407K	probably damaging	Het
Slain2	T	C	5: 72,957,322	S299P	probably damaging	Het
Slc17a4	A	G	13: 23,900,545	Y419H	possibly damaging	Het
Slc1a6	T	A	10: 78,791,349	D173E	probably damaging	Het
Slc22a19	A	T	19: 7,711,141	I18N	probably damaging	Het
Slc37a3	A	T	6: 39,359,968	F91L	probably damaging	Het
Spag5	C	A	11: 78,304,455	T196K	possibly damaging	Het
Susd2	G	T	10: 75,639,732	A326D	probably damaging	Het
Syna	G	T	5: 134,559,915	A60D	probably damaging	Het
Tchh	A	T	3: 93,447,760	E1502D	unknown	Het
Tecta	T	C	9: 42,392,024	H104R	probably damaging	Het
Tmed1	T	C	9: 21,509,091	D102G	probably damaging	Het
Trip12	T	C	1: 84,745,060	D128G	probably damaging	Het
Uroc1	A	G	6: 90,361,524	M656V	probably benign	Het
Usp47	T	A	7: 112,101,870	V1096D	possibly damaging	Het
Utp20	T	A	10: 88,762,770	K115*	probably null	Het
Vmn2r19	G	T	6: 123,331,638		probably null	Het
Vmn2r86	A	T	10: 130,446,386	V787D	probably damaging	Het
Vmn2r87	A	T	10: 130,472,572	I599N	possibly damaging	Het
Vwf	A	G	6: 125,667,529	D2449G	possibly damaging	Het
Zbtb7c	T	A	18: 76,136,906	C22S	probably benign	Het
Zc3h7a	A	G	16: 11,147,304	I655T	possibly damaging	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
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
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'- CTGACATCAAGCCTGTGAAAC -3'
(R):5'- CCAGGGTGAGGCTTTTCATTTC -3'

Sequencing Primer
(F):5'- TCAAGCCTGTGAAACCCATC -3'
(R):5'- TGTGCCAAATGTTAAGCCGC -3'

Posted On

2014-06-30