Mutagenetix > Incidental Mutation

Incidental Mutation 'R8953:Map6'

681757

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

Essential gene?

Probably non essential (E-score: 0.086) question?

Stock #

R8953 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

99267447-99337137 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 99315871 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Proline at position 289 (L289P)

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: L492P

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

SMART Domains

Protein: ENSMUSP00000064787
Gene: ENSMUSG00000055407
AA Change: L492P

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: L289P

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

SMART Domains

Protein: ENSMUSP00000102717
Gene: ENSMUSG00000055407
AA Change: L289P

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: L492P

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

SMART Domains

Protein: ENSMUSP00000113183
Gene: ENSMUSG00000055407
AA Change: L492P

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: L492P

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000207883
AA Change: L492P

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000208605
AA Change: L289P

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000208924
AA Change: L289P

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.8%

Validation Efficiency

100% (64/64)

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: 64 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930590J08Rik	T	C	6: 91,915,021	V88A	probably benign	Het
Abca17	C	A	17: 24,299,041	V765L	probably benign	Het
Atp2b2	T	A	6: 113,760,669	T915S	possibly damaging	Het
BC017158	T	G	7: 128,273,506	Q423H	probably benign	Het
Cacna1s	C	T	1: 136,097,432	H992Y	possibly damaging	Het
Clpp	T	A	17: 56,991,373	M113K	probably damaging	Het
Csn3	A	G	5: 87,929,950	Q105R	possibly damaging	Het
Dcaf1	G	A	9: 106,858,343	R830Q	possibly damaging	Het
Dnah17	A	T	11: 118,125,412		probably benign	Het
Etv4	A	G	11: 101,771,687		probably null	Het
Fos	A	G	12: 85,476,052	D246G	probably benign	Het
Foxo1	T	C	3: 52,346,254	S613P	probably damaging	Het
Gabra2	A	T	5: 71,006,182	C261S	probably damaging	Het
Garem1	A	T	18: 21,131,331		probably null	Het
Gatsl3	A	T	11: 4,221,249	I244F	probably benign	Het
Gm10436	A	G	12: 88,177,300	C248R	probably benign	Het
Gmip	T	G	8: 69,816,777	L533R	probably damaging	Het
Gpr1	A	G	1: 63,183,113	L321P	probably damaging	Het
Havcr1	A	G	11: 46,756,179	T147A	possibly damaging	Het
Helz2	C	T	2: 181,233,091	R1870Q	probably damaging	Het
Kcnk3	A	C	5: 30,622,038	K144T	probably damaging	Het
Lama5	A	G	2: 180,193,520	V1293A	probably damaging	Het
Man2b1	A	G	8: 85,091,910	I498V	probably benign	Het
Mapk7	G	T	11: 61,492,966	D43E	possibly damaging	Het
Medag	A	G	5: 149,427,300	Y194C	probably damaging	Het
Mertk	A	G	2: 128,778,796		probably benign	Het
Mier3	C	A	13: 111,706,053	T136K	probably benign	Het
Ndc1	T	A	4: 107,381,693	W242R	probably damaging	Het
Nlrp1b	A	G	11: 71,161,806	V932A	probably damaging	Het
Olfr1138	A	T	2: 87,738,027	M99K	probably benign	Het
Olfr164	T	A	16: 19,286,519	M75L	probably benign	Het
Olfr460	G	T	6: 40,571,742	A119S	possibly damaging	Het
Olfr476	G	A	7: 107,968,044	V216I	probably benign	Het
Otub2	A	T	12: 103,404,326	D289V	probably damaging	Het
P2rx3	A	G	2: 85,023,498	V133A	possibly damaging	Het
Pde4a	C	A	9: 21,210,734	T585K	probably damaging	Het
Pik3c2a	A	T	7: 116,388,085	Y534N	probably benign	Het
Pip5kl1	A	G	2: 32,579,979	D232G	possibly damaging	Het
Pklr	C	T	3: 89,142,305	S234L	probably damaging	Het
Pkn1	T	C	8: 83,684,186	K271E	probably damaging	Het
Plch1	T	G	3: 63,731,705	H449P	possibly damaging	Het
Pparg	T	C	6: 115,441,546	L92P	possibly damaging	Het
Ptgdr2	C	T	19: 10,940,422	T101I	probably benign	Het
Rad54l2	A	T	9: 106,693,262	H1286Q	probably benign	Het
Ralgapa1	A	G	12: 55,820,761	S3P	probably damaging	Het
Rictor	G	A	15: 6,794,447	V1598I	probably benign	Het
Rph3al	G	T	11: 75,906,575	C98*	probably null	Het
Rpn2	A	G	2: 157,321,826	T613A	probably damaging	Het
Rps20	T	A	4: 3,834,617	M82L	probably benign	Het
Sh3bp4	A	G	1: 89,144,437	I336V	probably damaging	Het
Slc6a20b	T	C	9: 123,609,189	N174S	probably damaging	Het
Spta1	A	G	1: 174,230,675	N1903S	probably benign	Het
Ssfa2	T	C	2: 79,660,495	Y986H	probably damaging	Het
Tacc2	T	C	7: 130,625,757	S1391P	probably benign	Het
Terb1	T	A	8: 104,468,799	D570V	probably damaging	Het
Trhde	T	A	10: 114,503,061	I615F	probably damaging	Het
Ttc13	T	C	8: 124,675,349	N556S	probably damaging	Het
Ttn	T	A	2: 76,737,884	D19228V	probably damaging	Het
Unc13c	T	A	9: 73,932,762	Y269F	probably benign	Het
Usp33	T	A	3: 152,374,783	V517E	possibly damaging	Het
Wee1	A	G	7: 110,124,484	D202G	probably benign	Het
Zfp318	T	A	17: 46,420,430	S1120T	probably benign	Het
Zfr2	C	A	10: 81,248,437	N650K	probably damaging	Het
Znfx1	G	A	2: 167,055,501	T501I	probably 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
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
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'- GAGCATGGACTGACATCAAGC -3'
(R):5'- TCTCAAATACAGAGTCAGATGTGC -3'

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

Posted On

2021-08-31