Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL02456:Map1a'

294163

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Map1a

Ensembl Gene

ENSMUSG00000027254

Gene Name

microtubule-associated protein 1 A

Synonyms

Mtap1, Mtap-1, 6330416M19Rik, Mtap1a

Accession Numbers

Is this an essential gene?

Possibly non essential (E-score: 0.465) question?

Stock #

IGL02456

Quality Score

Status

Chromosome

Chromosomal Location

121289600-121310832 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 121298653 bp

Zygosity

Heterozygous

Amino Acid Change

Proline to Threonine at position 133 (P133T)

Ref Sequence

ENSEMBL: ENSMUSP00000092223 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000094639] [ENSMUST00000110639]

Predicted Effect

probably damaging
Transcript: ENSMUST00000094639
AA Change: P133T

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

SMART Domains

Protein: ENSMUSP00000092223
Gene: ENSMUSG00000027254
AA Change: P133T

Domain	Start	End	E-Value	Type
Blast:Lactamase_B	286	538	2e-54	BLAST
SCOP:d1eq1a_	584	699	8e-5	SMART
low complexity region	743	755	N/A	INTRINSIC
low complexity region	820	833	N/A	INTRINSIC
low complexity region	852	867	N/A	INTRINSIC
low complexity region	897	911	N/A	INTRINSIC
low complexity region	1228	1239	N/A	INTRINSIC
low complexity region	1334	1344	N/A	INTRINSIC
low complexity region	1540	1555	N/A	INTRINSIC
coiled coil region	1573	1602	N/A	INTRINSIC
internal_repeat_1	1616	1726	7.66e-6	PROSPERO
coiled coil region	1747	1771	N/A	INTRINSIC
internal_repeat_1	1774	1888	7.66e-6	PROSPERO
low complexity region	2060	2084	N/A	INTRINSIC
low complexity region	2121	2133	N/A	INTRINSIC
low complexity region	2156	2169	N/A	INTRINSIC
low complexity region	2383	2396	N/A	INTRINSIC
low complexity region	2436	2460	N/A	INTRINSIC
low complexity region	2517	2541	N/A	INTRINSIC
low complexity region	2589	2600	N/A	INTRINSIC
low complexity region	2662	2682	N/A	INTRINSIC
low complexity region	2685	2704	N/A	INTRINSIC
low complexity region	2716	2728	N/A	INTRINSIC
low complexity region	2766	2790	N/A	INTRINSIC
low complexity region	2980	2988	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000110639

SMART Domains

Protein: ENSMUSP00000106269
Gene: ENSMUSG00000027254

Domain	Start	End	E-Value	Type
Blast:Lactamase_B	48	300	3e-54	BLAST
SCOP:d1eq1a_	346	461	1e-4	SMART
low complexity region	505	517	N/A	INTRINSIC
low complexity region	582	595	N/A	INTRINSIC
low complexity region	614	629	N/A	INTRINSIC
low complexity region	659	673	N/A	INTRINSIC
low complexity region	990	1001	N/A	INTRINSIC
low complexity region	1096	1106	N/A	INTRINSIC
low complexity region	1302	1317	N/A	INTRINSIC
coiled coil region	1335	1364	N/A	INTRINSIC
internal_repeat_1	1378	1488	5.43e-6	PROSPERO
coiled coil region	1509	1533	N/A	INTRINSIC
internal_repeat_1	1536	1650	5.43e-6	PROSPERO
low complexity region	1822	1846	N/A	INTRINSIC
low complexity region	1883	1895	N/A	INTRINSIC
low complexity region	1918	1931	N/A	INTRINSIC
low complexity region	2145	2158	N/A	INTRINSIC
low complexity region	2198	2222	N/A	INTRINSIC
low complexity region	2279	2303	N/A	INTRINSIC
low complexity region	2351	2362	N/A	INTRINSIC
low complexity region	2424	2444	N/A	INTRINSIC
low complexity region	2447	2466	N/A	INTRINSIC
low complexity region	2478	2490	N/A	INTRINSIC
low complexity region	2528	2552	N/A	INTRINSIC
low complexity region	2742	2750	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000129000

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000133283

Coding Region Coverage

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a protein that belongs to the microtubule-associated protein family. The proteins of this family are thought to be involved in microtubule assembly, which is an essential step in neurogenesis. The product of this gene is a precursor polypeptide that presumably undergoes proteolytic processing to generate the final MAP1A heavy chain and LC2 light chain. Expression of this gene is almost exclusively in the brain. Studies of the rat microtubule-associated protein 1A gene suggested a role in early events of spinal cord development. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit Purkinje cell degeneration. Mice homozygous for a spontaneous mutation exhibit mild ataxia and Purkinje cell degeneration. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 48 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
0610009O20Rik	T	A	18: 38,261,124	L458Q	probably damaging	Het
4921511C20Rik	T	A	X: 127,394,961	Y174*	probably null	Het
Apc	C	A	18: 34,313,882	S1243*	probably null	Het
Atp8b5	A	G	4: 43,365,578	T731A	probably benign	Het
Bcl2a1c	T	A	9: 114,330,390	F79I	probably damaging	Het
Brip1	G	T	11: 86,065,099	L863I	possibly damaging	Het
Cbx4	T	A	11: 119,082,112	K146*	probably null	Het
Ccdc36	G	T	9: 108,406,621	T208K	probably benign	Het
Ces1a	C	T	8: 93,039,498	V163I	possibly damaging	Het
Ces5a	C	T	8: 93,528,644		probably benign	Het
Cfhr1	A	C	1: 139,556,393	N128K	possibly damaging	Het
Clcn3	T	C	8: 60,941,357	D46G	probably damaging	Het
Cntnap1	T	G	11: 101,178,129	I166S	probably benign	Het
Cntnap3	A	T	13: 64,799,058		probably benign	Het
Cntnap5c	T	A	17: 58,407,744		probably benign	Het
Ddx23	A	T	15: 98,647,549	V626E	probably damaging	Het
Gcm2	T	C	13: 41,103,001	Y424C	probably benign	Het
Gm9964	A	G	11: 79,296,370	F84L	probably damaging	Het
Grn	T	A	11: 102,436,104	D509E	probably benign	Het
Kdm5c	G	A	X: 152,246,318	D343N	probably damaging	Het
Ly75	C	T	2: 60,293,781	M1717I	probably benign	Het
Mpp2	C	A	11: 102,059,373	A552S	possibly damaging	Het
Mtr	T	C	13: 12,199,094	I897M	probably damaging	Het
Npas3	A	T	12: 54,048,767	I337F	probably damaging	Het
Nup85	T	C	11: 115,581,865		probably benign	Het
Olfr118	T	A	17: 37,672,449	M142K	possibly damaging	Het
Olfr325	T	A	11: 58,581,198	L118H	possibly damaging	Het
Olfr517	A	G	7: 108,869,050	Y35H	probably benign	Het
Olfr630	T	A	7: 103,755,493	I31F	possibly damaging	Het
Olfr683	T	C	7: 105,143,759	N178S	probably damaging	Het
Pdia4	A	T	6: 47,803,495	D301E	probably benign	Het
Phf2	C	A	13: 48,828,846	G134C	unknown	Het
Polr2h	T	A	16: 20,720,602	L76H	probably damaging	Het
Rbm47	G	A	5: 66,027,021	R80C	probably damaging	Het
Sfmbt1	T	C	14: 30,785,880	S286P	probably damaging	Het
Slc5a12	T	C	2: 110,616,834		probably benign	Het
Tacc2	T	C	7: 130,626,261	S1559P	probably benign	Het
Tbc1d16	T	G	11: 119,210,546	H46P	probably damaging	Het
Tbck	A	G	3: 132,734,714		probably benign	Het
Tmtc4	A	T	14: 122,925,962		probably null	Het
Ttc13	T	C	8: 124,690,361		probably null	Het
Ttc17	T	C	2: 94,362,785		probably benign	Het
Vmn1r121	T	A	7: 21,098,513	M1L	possibly damaging	Het
Vps13c	T	C	9: 67,952,976	S2825P	probably damaging	Het
Zan	A	C	5: 137,446,844	S1718A	unknown	Het
Zfp39	G	T	11: 58,902,800	Y37*	probably null	Het
Zfp407	T	C	18: 84,558,641	N1449S	probably damaging	Het
Zhx2	C	A	15: 57,823,639	D801E	possibly damaging	Het

Other mutations in Map1a

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00419:Map1a	APN	2	121299027	missense	probably damaging	0.99
IGL00826:Map1a	APN	2	121302276	missense	possibly damaging	0.87
IGL01476:Map1a	APN	2	121305207	missense	probably damaging	1.00
IGL02029:Map1a	APN	2	121303298	missense	possibly damaging	0.57
IGL02100:Map1a	APN	2	121302846	missense	probably damaging	0.99
IGL02136:Map1a	APN	2	121300212	missense	probably damaging	1.00
IGL02146:Map1a	APN	2	121299446	missense	probably damaging	1.00
IGL02264:Map1a	APN	2	121307313	missense	probably damaging	1.00
IGL02485:Map1a	APN	2	121299288	missense	probably damaging	1.00
IGL02535:Map1a	APN	2	121302177	nonsense	probably null
IGL02628:Map1a	APN	2	121300104	missense	probably damaging	1.00
IGL02721:Map1a	APN	2	121304037	missense	probably benign	0.44
IGL03273:Map1a	APN	2	121300238	missense	probably damaging	1.00
IGL03281:Map1a	APN	2	121305060	missense	probably damaging	1.00
IGL02991:Map1a	UTSW	2	121301610	missense	probably damaging	0.99
R0096:Map1a	UTSW	2	121301505	missense	probably damaging	1.00
R0096:Map1a	UTSW	2	121301505	missense	probably damaging	1.00
R0218:Map1a	UTSW	2	121305425	missense	probably benign	0.00
R0363:Map1a	UTSW	2	121302044	missense	probably damaging	1.00
R0450:Map1a	UTSW	2	121305774	missense	probably benign	0.27
R0469:Map1a	UTSW	2	121305774	missense	probably benign	0.27
R0477:Map1a	UTSW	2	121302101	missense	probably damaging	1.00
R0504:Map1a	UTSW	2	121302941	missense	probably benign	0.03
R0510:Map1a	UTSW	2	121305774	missense	probably benign	0.27
R0521:Map1a	UTSW	2	121305753	missense	probably damaging	1.00
R0601:Map1a	UTSW	2	121298602	missense	probably damaging	1.00
R0619:Map1a	UTSW	2	121305255	missense	probably damaging	0.96
R0633:Map1a	UTSW	2	121308014	missense	probably damaging	1.00
R0652:Map1a	UTSW	2	121302783	missense	probably benign	0.04
R0893:Map1a	UTSW	2	121300533	missense	probably damaging	1.00
R0960:Map1a	UTSW	2	121301643	missense	probably benign	0.16
R1115:Map1a	UTSW	2	121307378	splice site	probably null
R1166:Map1a	UTSW	2	121300260	missense	probably damaging	1.00
R1326:Map1a	UTSW	2	121306190	nonsense	probably null
R1331:Map1a	UTSW	2	121306220	nonsense	probably null
R1395:Map1a	UTSW	2	121303925	missense	probably benign	0.26
R1489:Map1a	UTSW	2	121300437	missense	possibly damaging	0.91
R1573:Map1a	UTSW	2	121304126	missense	probably benign	0.37
R1596:Map1a	UTSW	2	121289765	missense	probably benign	0.00
R1662:Map1a	UTSW	2	121306408	missense	possibly damaging	0.90
R1675:Map1a	UTSW	2	121302655	nonsense	probably null
R1919:Map1a	UTSW	2	121307012	missense	probably damaging	1.00
R2122:Map1a	UTSW	2	121299446	missense	probably damaging	1.00
R2126:Map1a	UTSW	2	121298641	missense	probably damaging	0.96
R2143:Map1a	UTSW	2	121301945	missense	probably damaging	1.00
R2172:Map1a	UTSW	2	121307932	missense	probably damaging	1.00
R2249:Map1a	UTSW	2	121300287	missense	probably damaging	1.00
R2254:Map1a	UTSW	2	121303791	missense	possibly damaging	0.71
R2255:Map1a	UTSW	2	121303791	missense	possibly damaging	0.71
R3834:Map1a	UTSW	2	121307322	missense	probably damaging	1.00
R4011:Map1a	UTSW	2	121300127	missense	probably damaging	1.00
R4346:Map1a	UTSW	2	121301325	missense	probably benign	0.13
R4842:Map1a	UTSW	2	121302086	missense	probably damaging	1.00
R4933:Map1a	UTSW	2	121305905	missense	probably damaging	1.00
R4978:Map1a	UTSW	2	121301142	missense	probably benign	0.00
R4988:Map1a	UTSW	2	121303050	missense	probably benign	0.34
R5026:Map1a	UTSW	2	121307538	missense	possibly damaging	0.83
R5086:Map1a	UTSW	2	121304504	missense	probably damaging	1.00
R5155:Map1a	UTSW	2	121302386	missense	probably damaging	1.00
R5232:Map1a	UTSW	2	121301985	missense	probably damaging	1.00
R5311:Map1a	UTSW	2	121302387	missense	probably damaging	1.00
R5401:Map1a	UTSW	2	121299672	missense	probably damaging	1.00
R5465:Map1a	UTSW	2	121306025	missense	probably damaging	1.00
R5526:Map1a	UTSW	2	121305662	missense	probably damaging	1.00
R5642:Map1a	UTSW	2	121306043	missense	probably damaging	1.00
R5726:Map1a	UTSW	2	121305065	missense	probably damaging	1.00
R5817:Map1a	UTSW	2	121298910	missense	possibly damaging	0.81
R5855:Map1a	UTSW	2	121303674	missense	possibly damaging	0.74
R5917:Map1a	UTSW	2	121305216	missense	probably damaging	1.00
R5974:Map1a	UTSW	2	121304376	missense	probably benign	0.20
R5987:Map1a	UTSW	2	121304295	missense	possibly damaging	0.56
R6151:Map1a	UTSW	2	121289823	missense	probably benign	0.12
R6406:Map1a	UTSW	2	121300743	missense	probably damaging	1.00
R7014:Map1a	UTSW	2	121300239	missense	probably damaging	1.00
R7099:Map1a	UTSW	2	121300517	missense	probably benign	0.04
R7211:Map1a	UTSW	2	121304643	missense	probably benign	0.02
R7230:Map1a	UTSW	2	121300818	missense	probably damaging	1.00
R7305:Map1a	UTSW	2	121299458	missense	probably damaging	1.00
R7382:Map1a	UTSW	2	121290785	missense	probably damaging	1.00
R7524:Map1a	UTSW	2	121289812	missense	probably damaging	1.00
R7767:Map1a	UTSW	2	121302036	missense	probably damaging	1.00
R7883:Map1a	UTSW	2	121305372	missense	probably damaging	1.00
R7896:Map1a	UTSW	2	121305176	missense	probably benign	0.00
R7966:Map1a	UTSW	2	121305372	missense	probably damaging	1.00
R7979:Map1a	UTSW	2	121305176	missense	probably benign	0.00
RF003:Map1a	UTSW	2	121306296	small insertion	probably benign
RF007:Map1a	UTSW	2	121306308	small insertion	probably benign
RF009:Map1a	UTSW	2	121306301	small insertion	probably benign
RF010:Map1a	UTSW	2	121306318	small insertion	probably benign
RF014:Map1a	UTSW	2	121306295	small insertion	probably benign
RF017:Map1a	UTSW	2	121306308	small insertion	probably benign
RF019:Map1a	UTSW	2	121306299	small insertion	probably benign
RF024:Map1a	UTSW	2	121306307	small insertion	probably benign
RF025:Map1a	UTSW	2	121306294	small insertion	probably benign
RF030:Map1a	UTSW	2	121306311	small insertion	probably benign
RF030:Map1a	UTSW	2	121306317	small insertion	probably benign
RF033:Map1a	UTSW	2	121306299	small insertion	probably benign
RF034:Map1a	UTSW	2	121306304	small insertion	probably benign
RF034:Map1a	UTSW	2	121306307	small insertion	probably benign
RF035:Map1a	UTSW	2	121306301	small insertion	probably benign
RF037:Map1a	UTSW	2	121306294	small insertion	probably benign
RF039:Map1a	UTSW	2	121306304	small insertion	probably benign
RF042:Map1a	UTSW	2	121306287	small insertion	probably benign
RF044:Map1a	UTSW	2	121306293	small insertion	probably benign
RF045:Map1a	UTSW	2	121306293	small insertion	probably benign
RF051:Map1a	UTSW	2	121306296	small insertion	probably benign
RF052:Map1a	UTSW	2	121306295	small insertion	probably benign
RF053:Map1a	UTSW	2	121306290	small insertion	probably benign
RF060:Map1a	UTSW	2	121306318	small insertion	probably benign
RF061:Map1a	UTSW	2	121306287	small insertion	probably benign
Z1176:Map1a	UTSW	2	121303238	missense	possibly damaging	0.95
Z1177:Map1a	UTSW	2	121305279	missense	probably damaging	0.99

Posted On

2015-04-16