Mutagenetix > Incidental Mutation

Incidental Mutation 'R4011:Map1a'

311678

Institutional Source

Beutler Lab

Gene Symbol

Map1a

Ensembl Gene

ENSMUSG00000027254

Gene Name

microtubule-associated protein 1 A

Synonyms

Mtap1a, Mtap-1, 6330416M19Rik, Mtap1

MMRRC Submission

040948-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.235) question?

Stock #

R4011 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

121120081-121141313 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 121130608 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Alanine to Threonine at position 475 (A475T)

Ref Sequence

ENSEMBL: ENSMUSP00000092223 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

probably damaging
Transcript: ENSMUST00000094639
AA Change: A475T

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

SMART Domains

Protein: ENSMUSP00000092223
Gene: ENSMUSG00000027254
AA Change: A475T

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
AA Change: A237T

PolyPhen 2 Score 0.248 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000106269
Gene: ENSMUSG00000027254
AA Change: A237T

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

Meta Mutation Damage Score

0.0958

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 96.9%
20x: 93.7%

Validation Efficiency

100% (43/43)

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: 43 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca13	G	A	11: 9,572,013 (GRCm39)		probably benign	Het
Acss2	T	A	2: 155,399,548 (GRCm39)	L529Q	probably damaging	Het
Adsl	T	C	15: 80,850,357 (GRCm39)	S359P	probably benign	Het
C1qtnf1	G	A	11: 118,337,365 (GRCm39)	G65D	probably benign	Het
Chd1l	A	T	3: 97,477,718 (GRCm39)	M679K	probably benign	Het
Cspg4	A	G	9: 56,794,601 (GRCm39)	T779A	probably benign	Het
Ddx18	T	C	1: 121,489,810 (GRCm39)	I200V	probably benign	Het
Dnah9	T	A	11: 65,725,290 (GRCm39)	M4288L	probably damaging	Het
F830045P16Rik	A	T	2: 129,305,467 (GRCm39)	N302K	probably damaging	Het
Gas1	T	G	13: 60,323,791 (GRCm39)	D322A	unknown	Het
Gfm2	T	A	13: 97,279,608 (GRCm39)		probably benign	Het
Gm5592	G	T	7: 40,938,934 (GRCm39)	V739L	probably benign	Het
Hbb-bh2	T	A	7: 103,489,416 (GRCm39)	H45L	probably benign	Het
Ifit2	G	T	19: 34,551,445 (GRCm39)	M328I	probably benign	Het
Igdcc4	T	C	9: 65,042,761 (GRCm39)	V1237A	probably benign	Het
Kat2b	G	A	17: 53,951,769 (GRCm39)		probably null	Het
Lmtk2	A	G	5: 144,112,697 (GRCm39)	N1139S	probably benign	Het
Map3k20	G	A	2: 72,214,468 (GRCm39)		probably benign	Het
Mga	T	C	2: 119,762,261 (GRCm39)	V1084A	probably damaging	Het
Msantd5f6	T	C	4: 73,320,047 (GRCm39)	Y244C	probably damaging	Het
Myo3b	A	G	2: 69,926,720 (GRCm39)	I5V	probably benign	Het
Or10a3m	A	T	7: 108,313,366 (GRCm39)	I269L	probably benign	Het
Or10ag56	A	G	2: 87,139,555 (GRCm39)	I141V	probably benign	Het
Or10ag57	A	T	2: 87,218,924 (GRCm39)	I292F	possibly damaging	Het
Or56b1	A	G	7: 104,285,555 (GRCm39)	T225A	probably benign	Het
Or5h24	G	A	16: 58,919,124 (GRCm39)	T77I	unknown	Het
Or5v1	T	C	17: 37,810,382 (GRCm39)	V280A	possibly damaging	Het
Osmr	G	T	15: 6,854,014 (GRCm39)	R565S	probably benign	Het
Pcolce	G	T	5: 137,604,036 (GRCm39)	Q344K	probably benign	Het
Prdm11	A	G	2: 92,843,175 (GRCm39)	F95L	probably damaging	Het
Psd2	C	T	18: 36,120,300 (GRCm39)	T383I	probably benign	Het
Reg3a	G	A	6: 78,360,553 (GRCm39)	D164N	probably damaging	Het
Serpina3a	A	T	12: 104,084,902 (GRCm39)	D99V	probably benign	Het
Sgce	G	T	6: 4,691,563 (GRCm39)	Y301*	probably null	Het
Slc28a3	T	C	13: 58,714,064 (GRCm39)	K434E	probably benign	Het
Slc30a3	A	G	5: 31,244,203 (GRCm39)	F360L	probably damaging	Het
Tdpoz3	A	T	3: 93,733,550 (GRCm39)	Y75F	possibly damaging	Het
Trim65	A	G	11: 116,018,529 (GRCm39)	F249L	probably benign	Het
Tubgcp3	A	T	8: 12,689,634 (GRCm39)	L544*	probably null	Het
Vit	C	T	17: 78,842,121 (GRCm39)		probably benign	Het
Wdfy4	C	A	14: 32,824,637 (GRCm39)		probably benign	Het
Xpo6	T	C	7: 125,739,780 (GRCm39)	K431E	probably benign	Het
Xrn1	T	A	9: 95,867,278 (GRCm39)	Y545*	probably null	Het

Other mutations in Map1a

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00419:Map1a	APN	2	121,129,508 (GRCm39)	missense	probably damaging	0.99
IGL00826:Map1a	APN	2	121,132,757 (GRCm39)	missense	possibly damaging	0.87
IGL01476:Map1a	APN	2	121,135,688 (GRCm39)	missense	probably damaging	1.00
IGL02029:Map1a	APN	2	121,133,779 (GRCm39)	missense	possibly damaging	0.57
IGL02100:Map1a	APN	2	121,133,327 (GRCm39)	missense	probably damaging	0.99
IGL02136:Map1a	APN	2	121,130,693 (GRCm39)	missense	probably damaging	1.00
IGL02146:Map1a	APN	2	121,129,927 (GRCm39)	missense	probably damaging	1.00
IGL02264:Map1a	APN	2	121,137,794 (GRCm39)	missense	probably damaging	1.00
IGL02456:Map1a	APN	2	121,129,134 (GRCm39)	missense	probably damaging	1.00
IGL02485:Map1a	APN	2	121,129,769 (GRCm39)	missense	probably damaging	1.00
IGL02535:Map1a	APN	2	121,132,658 (GRCm39)	nonsense	probably null
IGL02628:Map1a	APN	2	121,130,585 (GRCm39)	missense	probably damaging	1.00
IGL02721:Map1a	APN	2	121,134,518 (GRCm39)	missense	probably benign	0.44
IGL03273:Map1a	APN	2	121,130,719 (GRCm39)	missense	probably damaging	1.00
IGL03281:Map1a	APN	2	121,135,541 (GRCm39)	missense	probably damaging	1.00
IGL02991:Map1a	UTSW	2	121,132,091 (GRCm39)	missense	probably damaging	0.99
R0096:Map1a	UTSW	2	121,131,986 (GRCm39)	missense	probably damaging	1.00
R0096:Map1a	UTSW	2	121,131,986 (GRCm39)	missense	probably damaging	1.00
R0218:Map1a	UTSW	2	121,135,906 (GRCm39)	missense	probably benign	0.00
R0363:Map1a	UTSW	2	121,132,525 (GRCm39)	missense	probably damaging	1.00
R0450:Map1a	UTSW	2	121,136,255 (GRCm39)	missense	probably benign	0.27
R0469:Map1a	UTSW	2	121,136,255 (GRCm39)	missense	probably benign	0.27
R0477:Map1a	UTSW	2	121,132,582 (GRCm39)	missense	probably damaging	1.00
R0504:Map1a	UTSW	2	121,133,422 (GRCm39)	missense	probably benign	0.03
R0510:Map1a	UTSW	2	121,136,255 (GRCm39)	missense	probably benign	0.27
R0521:Map1a	UTSW	2	121,136,234 (GRCm39)	missense	probably damaging	1.00
R0601:Map1a	UTSW	2	121,129,083 (GRCm39)	missense	probably damaging	1.00
R0619:Map1a	UTSW	2	121,135,736 (GRCm39)	missense	probably damaging	0.96
R0633:Map1a	UTSW	2	121,138,495 (GRCm39)	missense	probably damaging	1.00
R0652:Map1a	UTSW	2	121,133,264 (GRCm39)	missense	probably benign	0.04
R0893:Map1a	UTSW	2	121,131,014 (GRCm39)	missense	probably damaging	1.00
R0960:Map1a	UTSW	2	121,132,124 (GRCm39)	missense	probably benign	0.16
R1115:Map1a	UTSW	2	121,137,859 (GRCm39)	splice site	probably null
R1166:Map1a	UTSW	2	121,130,741 (GRCm39)	missense	probably damaging	1.00
R1326:Map1a	UTSW	2	121,136,671 (GRCm39)	nonsense	probably null
R1331:Map1a	UTSW	2	121,136,701 (GRCm39)	nonsense	probably null
R1395:Map1a	UTSW	2	121,134,406 (GRCm39)	missense	probably benign	0.26
R1489:Map1a	UTSW	2	121,130,918 (GRCm39)	missense	possibly damaging	0.91
R1573:Map1a	UTSW	2	121,134,607 (GRCm39)	missense	probably benign	0.37
R1596:Map1a	UTSW	2	121,120,246 (GRCm39)	missense	probably benign	0.00
R1662:Map1a	UTSW	2	121,136,889 (GRCm39)	missense	possibly damaging	0.90
R1675:Map1a	UTSW	2	121,133,136 (GRCm39)	nonsense	probably null
R1919:Map1a	UTSW	2	121,137,493 (GRCm39)	missense	probably damaging	1.00
R2122:Map1a	UTSW	2	121,129,927 (GRCm39)	missense	probably damaging	1.00
R2126:Map1a	UTSW	2	121,129,122 (GRCm39)	missense	probably damaging	0.96
R2143:Map1a	UTSW	2	121,132,426 (GRCm39)	missense	probably damaging	1.00
R2172:Map1a	UTSW	2	121,138,413 (GRCm39)	missense	probably damaging	1.00
R2249:Map1a	UTSW	2	121,130,768 (GRCm39)	missense	probably damaging	1.00
R2254:Map1a	UTSW	2	121,134,272 (GRCm39)	missense	possibly damaging	0.71
R2255:Map1a	UTSW	2	121,134,272 (GRCm39)	missense	possibly damaging	0.71
R3834:Map1a	UTSW	2	121,137,803 (GRCm39)	missense	probably damaging	1.00
R4346:Map1a	UTSW	2	121,131,806 (GRCm39)	missense	probably benign	0.13
R4842:Map1a	UTSW	2	121,132,567 (GRCm39)	missense	probably damaging	1.00
R4933:Map1a	UTSW	2	121,136,386 (GRCm39)	missense	probably damaging	1.00
R4978:Map1a	UTSW	2	121,131,623 (GRCm39)	missense	probably benign	0.00
R4988:Map1a	UTSW	2	121,133,531 (GRCm39)	missense	probably benign	0.34
R5026:Map1a	UTSW	2	121,138,019 (GRCm39)	missense	possibly damaging	0.83
R5086:Map1a	UTSW	2	121,134,985 (GRCm39)	missense	probably damaging	1.00
R5155:Map1a	UTSW	2	121,132,867 (GRCm39)	missense	probably damaging	1.00
R5232:Map1a	UTSW	2	121,132,466 (GRCm39)	missense	probably damaging	1.00
R5311:Map1a	UTSW	2	121,132,868 (GRCm39)	missense	probably damaging	1.00
R5401:Map1a	UTSW	2	121,130,153 (GRCm39)	missense	probably damaging	1.00
R5465:Map1a	UTSW	2	121,136,506 (GRCm39)	missense	probably damaging	1.00
R5526:Map1a	UTSW	2	121,136,143 (GRCm39)	missense	probably damaging	1.00
R5642:Map1a	UTSW	2	121,136,524 (GRCm39)	missense	probably damaging	1.00
R5726:Map1a	UTSW	2	121,135,546 (GRCm39)	missense	probably damaging	1.00
R5817:Map1a	UTSW	2	121,129,391 (GRCm39)	missense	possibly damaging	0.81
R5855:Map1a	UTSW	2	121,134,155 (GRCm39)	missense	possibly damaging	0.74
R5917:Map1a	UTSW	2	121,135,697 (GRCm39)	missense	probably damaging	1.00
R5974:Map1a	UTSW	2	121,134,857 (GRCm39)	missense	probably benign	0.20
R5987:Map1a	UTSW	2	121,134,776 (GRCm39)	missense	possibly damaging	0.56
R6151:Map1a	UTSW	2	121,120,304 (GRCm39)	missense	probably benign	0.12
R6406:Map1a	UTSW	2	121,131,224 (GRCm39)	missense	probably damaging	1.00
R7014:Map1a	UTSW	2	121,130,720 (GRCm39)	missense	probably damaging	1.00
R7099:Map1a	UTSW	2	121,130,998 (GRCm39)	missense	probably benign	0.04
R7211:Map1a	UTSW	2	121,135,124 (GRCm39)	missense	probably benign	0.02
R7230:Map1a	UTSW	2	121,131,299 (GRCm39)	missense	probably damaging	1.00
R7305:Map1a	UTSW	2	121,129,939 (GRCm39)	missense	probably damaging	1.00
R7382:Map1a	UTSW	2	121,121,266 (GRCm39)	missense	probably damaging	1.00
R7524:Map1a	UTSW	2	121,120,293 (GRCm39)	missense	probably damaging	1.00
R7699:Map1a	UTSW	2	121,130,201 (GRCm39)	missense	probably damaging	1.00
R7767:Map1a	UTSW	2	121,132,517 (GRCm39)	missense	probably damaging	1.00
R7883:Map1a	UTSW	2	121,135,853 (GRCm39)	missense	probably damaging	1.00
R7896:Map1a	UTSW	2	121,135,657 (GRCm39)	missense	probably benign	0.00
R7993:Map1a	UTSW	2	121,135,057 (GRCm39)	missense	possibly damaging	0.84
R8270:Map1a	UTSW	2	121,129,501 (GRCm39)	missense	probably damaging	0.99
R8365:Map1a	UTSW	2	121,138,528 (GRCm39)	missense	probably damaging	1.00
R8428:Map1a	UTSW	2	121,135,418 (GRCm39)	missense	probably benign	0.42
R8490:Map1a	UTSW	2	121,135,045 (GRCm39)	missense	possibly damaging	0.93
R8678:Map1a	UTSW	2	121,137,737 (GRCm39)	missense	probably damaging	1.00
R8798:Map1a	UTSW	2	121,132,768 (GRCm39)	missense	probably benign	0.20
R8857:Map1a	UTSW	2	121,138,098 (GRCm39)	missense	probably damaging	1.00
R8878:Map1a	UTSW	2	121,138,125 (GRCm39)	missense	probably damaging	1.00
R8909:Map1a	UTSW	2	121,129,391 (GRCm39)	missense	probably damaging	0.99
R8917:Map1a	UTSW	2	121,131,791 (GRCm39)	missense	possibly damaging	0.93
R8947:Map1a	UTSW	2	121,135,450 (GRCm39)	missense	probably benign	0.27
R9069:Map1a	UTSW	2	121,134,145 (GRCm39)	missense	probably benign	0.15
R9198:Map1a	UTSW	2	121,133,854 (GRCm39)	missense	probably benign	0.00
R9253:Map1a	UTSW	2	121,132,823 (GRCm39)	missense	probably benign	0.00
R9290:Map1a	UTSW	2	121,131,014 (GRCm39)	missense	probably damaging	1.00
R9300:Map1a	UTSW	2	121,133,446 (GRCm39)	missense	probably damaging	1.00
R9589:Map1a	UTSW	2	121,136,398 (GRCm39)	missense	probably damaging	1.00
R9680:Map1a	UTSW	2	121,132,865 (GRCm39)	missense	probably damaging	1.00
R9792:Map1a	UTSW	2	121,121,304 (GRCm39)	critical splice donor site	probably null
R9793:Map1a	UTSW	2	121,121,304 (GRCm39)	critical splice donor site	probably null
R9795:Map1a	UTSW	2	121,121,304 (GRCm39)	critical splice donor site	probably null
RF003:Map1a	UTSW	2	121,136,777 (GRCm39)	small insertion	probably benign
RF007:Map1a	UTSW	2	121,136,789 (GRCm39)	small insertion	probably benign
RF009:Map1a	UTSW	2	121,136,782 (GRCm39)	small insertion	probably benign
RF010:Map1a	UTSW	2	121,136,799 (GRCm39)	small insertion	probably benign
RF014:Map1a	UTSW	2	121,136,776 (GRCm39)	small insertion	probably benign
RF017:Map1a	UTSW	2	121,136,789 (GRCm39)	small insertion	probably benign
RF024:Map1a	UTSW	2	121,136,788 (GRCm39)	small insertion	probably benign
RF025:Map1a	UTSW	2	121,136,775 (GRCm39)	small insertion	probably benign
RF030:Map1a	UTSW	2	121,136,798 (GRCm39)	small insertion	probably benign
RF030:Map1a	UTSW	2	121,136,792 (GRCm39)	small insertion	probably benign
RF033:Map1a	UTSW	2	121,136,780 (GRCm39)	small insertion	probably benign
RF034:Map1a	UTSW	2	121,136,788 (GRCm39)	small insertion	probably benign
RF034:Map1a	UTSW	2	121,136,785 (GRCm39)	small insertion	probably benign
RF035:Map1a	UTSW	2	121,136,782 (GRCm39)	small insertion	probably benign
RF037:Map1a	UTSW	2	121,136,775 (GRCm39)	small insertion	probably benign
RF039:Map1a	UTSW	2	121,136,785 (GRCm39)	small insertion	probably benign
RF042:Map1a	UTSW	2	121,136,768 (GRCm39)	small insertion	probably benign
RF044:Map1a	UTSW	2	121,136,774 (GRCm39)	small insertion	probably benign
RF045:Map1a	UTSW	2	121,136,774 (GRCm39)	small insertion	probably benign
RF051:Map1a	UTSW	2	121,136,777 (GRCm39)	small insertion	probably benign
RF052:Map1a	UTSW	2	121,136,776 (GRCm39)	small insertion	probably benign
RF053:Map1a	UTSW	2	121,136,771 (GRCm39)	small insertion	probably benign
RF060:Map1a	UTSW	2	121,136,799 (GRCm39)	small insertion	probably benign
RF061:Map1a	UTSW	2	121,136,768 (GRCm39)	small insertion	probably benign
Z1176:Map1a	UTSW	2	121,133,719 (GRCm39)	missense	possibly damaging	0.95
Z1177:Map1a	UTSW	2	121,135,760 (GRCm39)	missense	probably damaging	0.99

Predicted Primers

PCR Primer
(F):5'- AGTGGTCAGCAACACCATC -3'
(R):5'- AGCTTTGAGGCTCTCCTTG -3'

Sequencing Primer
(F):5'- ACACCATCGAGCCGCTG -3'
(R):5'- TTCAAGTTGGCAGGCACG -3'

Posted On

2015-04-29