Mutagenetix > Incidental Mutation

Incidental Mutation 'R5232:Map1a'

398584

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

042804-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.269) question?

Stock #

R5232 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

121120081-121141313 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 121132466 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Proline to Histidine at position 856 (P856H)

Ref Sequence

ENSEMBL: ENSMUSP00000106269 (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: P1094H

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

SMART Domains

Protein: ENSMUSP00000092223
Gene: ENSMUSG00000027254
AA Change: P1094H

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 damaging
Transcript: ENSMUST00000110639
AA Change: P856H

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

SMART Domains

Protein: ENSMUSP00000106269
Gene: ENSMUSG00000027254
AA Change: P856H

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: ENSMUST00000133283

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.2%
20x: 95.2%

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: 41 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcc5	T	C	16: 20,157,672 (GRCm39)	E1295G	probably damaging	Het
Adarb2	C	A	13: 8,763,676 (GRCm39)	H524Q	possibly damaging	Het
Arhgap26	A	G	18: 39,126,529 (GRCm39)	M1V	probably null	Het
Atp10b	G	A	11: 43,093,006 (GRCm39)	R447H	probably damaging	Het
B4galnt3	T	A	6: 120,209,949 (GRCm39)	Y58F	probably damaging	Het
Cdca7l	A	G	12: 117,833,820 (GRCm39)	E79G	probably damaging	Het
Chd4	C	G	6: 125,098,273 (GRCm39)	P350A	probably damaging	Het
Coq2	G	A	5: 100,805,698 (GRCm39)	H313Y	possibly damaging	Het
Cubn	A	T	2: 13,483,013 (GRCm39)	C244*	probably null	Het
Cyfip2	A	G	11: 46,133,205 (GRCm39)	S832P	probably damaging	Het
Dnaaf1	A	C	8: 120,317,329 (GRCm39)	E286A	probably benign	Het
Emilin1	A	G	5: 31,074,323 (GRCm39)	K188R	probably benign	Het
Fstl5	T	C	3: 76,052,284 (GRCm39)	W5R	possibly damaging	Het
Gm5565	T	A	5: 146,096,947 (GRCm39)	Y64F	possibly damaging	Het
Golga4	G	A	9: 118,335,626 (GRCm39)		probably null	Het
Hmcn2	T	C	2: 31,347,760 (GRCm39)	L4802P	probably damaging	Het
Hnrnpll	C	T	17: 80,346,107 (GRCm39)	V385I	probably damaging	Het
Kctd9	A	T	14: 67,962,110 (GRCm39)	D51V	probably damaging	Het
Lcn9	T	C	2: 25,714,067 (GRCm39)		probably null	Het
Myo5b	G	C	18: 74,848,003 (GRCm39)	E1080D	probably damaging	Het
Naglu	T	C	11: 100,960,976 (GRCm39)	I9T	probably benign	Het
Ndst3	A	T	3: 123,465,888 (GRCm39)	I28N	probably damaging	Het
Olfm4	A	G	14: 80,259,122 (GRCm39)	N424D	probably damaging	Het
Or11g26	T	A	14: 50,753,495 (GRCm39)	V278E	probably damaging	Het
Or4n5	A	G	14: 50,133,155 (GRCm39)	Y35H	probably damaging	Het
Phf13	T	C	4: 152,076,680 (GRCm39)	T171A	probably damaging	Het
Plk3	A	G	4: 116,986,317 (GRCm39)	V605A	probably benign	Het
Polr3a	A	T	14: 24,503,279 (GRCm39)	M1185K	probably benign	Het
Pramel7	A	T	2: 87,320,320 (GRCm39)	H324Q	probably damaging	Het
Prpf4b	T	A	13: 35,067,573 (GRCm39)		probably benign	Het
Pxdn	C	T	12: 30,040,987 (GRCm39)	T421I	probably benign	Het
Sertad2	C	T	11: 20,598,344 (GRCm39)	T180I	possibly damaging	Het
Sgo2b	C	A	8: 64,381,636 (GRCm39)	A399S	possibly damaging	Het
Skint5	T	C	4: 113,434,841 (GRCm39)	K1043E	unknown	Het
Slc22a27	C	G	19: 7,843,303 (GRCm39)	A359P	probably damaging	Het
Spock3	T	C	8: 63,798,843 (GRCm39)	F288S	probably damaging	Het
Srgap1	T	C	10: 121,676,816 (GRCm39)	I393V	probably benign	Het
Taf6	T	C	5: 138,178,214 (GRCm39)	K429R	possibly damaging	Het
Vav1	T	C	17: 57,610,846 (GRCm39)	F447L	possibly damaging	Het
Vmn2r19	T	C	6: 123,312,916 (GRCm39)	M662T	probably benign	Het
Zfp541	A	G	7: 15,829,104 (GRCm39)	Y1152C	probably damaging	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
R4011:Map1a	UTSW	2	121,130,608 (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
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'- TTTGAAGCCAGCCAGTCTG -3'
(R):5'- GTCACAGAGAAATCCTCACAGG -3'

Sequencing Primer
(F):5'- CCAGCTCGAGCAAAACTTATGGG -3'
(R):5'- AAATCCTCACAGGGCGGTGAC -3'

Posted On

2016-07-06