Mutagenetix > Incidental Mutation

Incidental Mutation 'R9654:Map6'

727265

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 #

R9654 (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 99336959 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Threonine at position 893 (I893T)

Ref Sequence

ENSEMBL: ENSMUSP00000064787 (fasta)

Gene Model

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

AlphaFold

Q7TSJ2

Predicted Effect

probably damaging
Transcript: ENSMUST00000068973
AA Change: I893T

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000064787
Gene: ENSMUSG00000055407
AA Change: I893T

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

probably damaging
Transcript: ENSMUST00000207883
AA Change: I893T

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

Predicted Effect

probably benign
Transcript: ENSMUST00000208605

Predicted Effect

probably damaging
Transcript: ENSMUST00000208924
AA Change: I690T

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
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: 54 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930407I10Rik	T	C	15: 82,064,715	S938P	possibly damaging	Het
Abca17	G	T	17: 24,317,125	H523N	probably benign	Het
Alx1	T	A	10: 103,022,232	H202L	probably benign	Het
Amotl1	T	A	9: 14,551,685	H744L	probably benign	Het
Ankrd50	A	T	3: 38,456,869	S450T	probably benign	Het
Arhgef25	C	T	10: 127,186,086	S200N	probably damaging	Het
Arl4c	G	T	1: 88,701,639	S9*	probably null	Het
Bod1l	A	G	5: 41,818,364	M1869T	probably benign	Het
Btnl6	G	A	17: 34,514,166	P241L	probably damaging	Het
Cacng8	C	T	7: 3,394,486	R88W	probably damaging	Het
Ccdc154	C	T	17: 25,167,710	T262I	possibly damaging	Het
Clmn	C	A	12: 104,781,934	E451D	probably damaging	Het
Dnah14	A	T	1: 181,766,339	I3416L	probably benign	Het
Dnah17	A	G	11: 118,036,330		probably null	Het
Dnah3	T	A	7: 120,042,173	K1175*	probably null	Het
Dock8	C	T	19: 25,147,346	R1009W	probably damaging	Het
Doxl2	T	C	6: 48,975,903	L254P	probably damaging	Het
Fam160a1	G	T	3: 85,672,225	T891K	probably damaging	Het
Fkbp15	A	G	4: 62,312,316	V720A	probably benign	Het
Fryl	G	T	5: 73,118,458	P121Q	probably benign	Het
H2-Q6	C	T	17: 35,425,209	R56C	probably damaging	Het
Hbs1l	T	C	10: 21,307,705	V115A	possibly damaging	Het
Heatr5a	G	A	12: 51,958,995	P66S	probably damaging	Het
Hsd17b4	A	G	18: 50,139,466	D44G	probably benign	Het
Idh3a	T	C	9: 54,589,898	V41A	probably benign	Het
Itih1	T	A	14: 30,942,913	K37M	probably damaging	Het
Lama1	A	G	17: 67,794,271	T1920A		Het
Ltn1	G	C	16: 87,410,339	D904E	probably benign	Het
Mcm5	C	T	8: 75,117,540	S313F	probably benign	Het
Mr1	T	C	1: 155,137,684	H49R	possibly damaging	Het
Myh2	T	C	11: 67,197,345	V1929A	probably benign	Het
Ncoa4	C	A	14: 32,174,508	P230Q	probably benign	Het
Npy4r	T	A	14: 34,147,124	Q69L	probably damaging	Het
Nup210l	C	T	3: 90,199,866	P1570L	probably benign	Het
Nus1	T	G	10: 52,418,034	L98R	possibly damaging	Het
Olfr1117-ps1	C	T	2: 87,284,727	L146F	probably benign	Het
Olfr1201	T	C	2: 88,794,919	L179S	probably damaging	Het
Olfr1362	T	C	13: 21,611,745	T75A	possibly damaging	Het
Olfr181	T	A	16: 58,926,389	I61F	probably benign	Het
Olfr296-ps1	T	A	7: 86,561,742	N3K	unknown	Het
Pcdha11	A	C	18: 37,012,280	T475P	probably damaging	Het
Pex5l	C	A	3: 32,956,678	A384S	probably benign	Het
Pgk2	T	A	17: 40,207,760	D259V	probably damaging	Het
Rhbdf1	T	C	11: 32,216,028	M52V	probably benign	Het
Rsph6a	T	A	7: 19,065,407	L321Q	probably damaging	Het
Sugp1	T	A	8: 70,070,006	M452K	probably damaging	Het
Sult2a6	T	G	7: 14,222,520	D272A	probably benign	Het
Tlr6	A	T	5: 64,955,354	L70Q	probably damaging	Het
Tmem178b	A	T	6: 40,245,600	Y83F	probably benign	Het
Tmprss4	C	T	9: 45,179,402		probably null	Het
Trpv4	A	G	5: 114,626,826	L709P	probably benign	Het
Utp15	G	A	13: 98,249,160	T519M	probably benign	Het
Vmn2r59	T	C	7: 42,043,793	N461S	probably benign	Het
Zap70	T	C	1: 36,779,246	V338A	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
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
Z1176:Map6	UTSW	7	99317660	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- TTGGGCCTATAAAGAATCAAGACC -3'
(R):5'- TCACCCACTCAGTGTGCATG -3'

Sequencing Primer
(F):5'- AGACCCTATAATCCCAGTACCTTTG -3'
(R):5'- ACCCACTCAGTGTGCATGGTATG -3'

Posted On

2022-10-06