Mutagenetix > Incidental Mutation

Incidental Mutation 'R5855:Map1a'

454850

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

043229-MU

Accession Numbers

Essential gene?

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

Stock #

R5855 (G1)

Quality Score

162

Status

Not validated

Chromosome

Chromosomal Location

121120081-121141313 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 121134155 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 1419 (D1419G)

Ref Sequence

ENSEMBL: ENSMUSP00000106269 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

possibly damaging
Transcript: ENSMUST00000094639
AA Change: D1657G

PolyPhen 2 Score 0.505 (Sensitivity: 0.88; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000092223
Gene: ENSMUSG00000027254
AA Change: D1657G

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

possibly damaging
Transcript: ENSMUST00000110639
AA Change: D1419G

PolyPhen 2 Score 0.740 (Sensitivity: 0.85; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000106269
Gene: ENSMUSG00000027254
AA Change: D1419G

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: 99.8%
3x: 99.4%
10x: 96.8%
20x: 89.3%

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
Acadsb	T	G	7: 131,026,328 (GRCm39)	L57R	probably damaging	Het
Bmpr1b	G	A	3: 141,577,146 (GRCm39)	T55M	possibly damaging	Het
Cep350	G	A	1: 155,829,508 (GRCm39)	T132I	probably benign	Het
Cops4	A	T	5: 100,695,280 (GRCm39)	M400L	probably benign	Het
Cul1	G	A	6: 47,500,147 (GRCm39)	D653N	probably benign	Het
Cyp3a13	C	G	5: 137,917,318 (GRCm39)	L36F	probably damaging	Het
Dcaf10	T	C	4: 45,342,558 (GRCm39)	F131L	probably benign	Het
Dgkh	T	C	14: 78,861,944 (GRCm39)		probably null	Het
Igll1	C	T	16: 16,678,921 (GRCm39)	V130M	probably damaging	Het
Kif2c	C	T	4: 117,039,739 (GRCm39)		probably benign	Het
Klra7	T	C	6: 130,195,921 (GRCm39)	D262G	possibly damaging	Het
Lrrc27	T	C	7: 138,798,251 (GRCm39)		probably benign	Het
Maf	A	G	8: 116,432,531 (GRCm39)	S358P	probably benign	Het
Map3k1	G	A	13: 111,892,513 (GRCm39)	A914V	probably benign	Het
Naa25	T	G	5: 121,561,755 (GRCm39)	L436R	possibly damaging	Het
Ndc1	T	C	4: 107,240,904 (GRCm39)	I294T	probably damaging	Het
Nek1	A	C	8: 61,469,306 (GRCm39)	D121A	probably damaging	Het
Nfil3	C	T	13: 53,122,746 (GRCm39)	G53R	probably benign	Het
Or10h28	T	C	17: 33,488,310 (GRCm39)	V204A	possibly damaging	Het
Parp14	A	T	16: 35,661,297 (GRCm39)	Y1550*	probably null	Het
Patl1	A	G	19: 11,898,880 (GRCm39)	I192V	probably damaging	Het
Pax3	G	A	1: 78,098,288 (GRCm39)	T367I	probably damaging	Het
Pla2g4a	C	T	1: 149,755,814 (GRCm39)	V208M	probably damaging	Het
Prdm10	A	T	9: 31,248,619 (GRCm39)	K347M	probably damaging	Het
Prkd1	A	T	12: 50,439,699 (GRCm39)	M376K	probably benign	Het
Prkg1	C	T	19: 30,872,094 (GRCm39)	V219I	possibly damaging	Het
Rictor	G	A	15: 6,823,487 (GRCm39)	E1555K	probably benign	Het
Scn3a	T	C	2: 65,295,074 (GRCm39)	I1550V	possibly damaging	Het
Skint8	C	A	4: 111,807,390 (GRCm39)	L359M	probably damaging	Het
Sox4	T	C	13: 29,136,979 (GRCm39)	E9G	probably damaging	Het
Spon1	T	A	7: 113,628,307 (GRCm39)	D354E	probably damaging	Het
Stat2	T	A	10: 128,119,363 (GRCm39)	L450H	probably damaging	Het
Tek	T	A	4: 94,741,790 (GRCm39)	M849K	probably damaging	Het
Tmem63c	G	A	12: 87,122,500 (GRCm39)	D433N	probably damaging	Het
Tnpo3	G	A	6: 29,589,032 (GRCm39)	T106I	probably damaging	Het
Tns1	G	T	1: 73,957,192 (GRCm39)	A1674D	possibly damaging	Het
Trim8	T	C	19: 46,503,849 (GRCm39)	V467A	possibly damaging	Het
Trmo	T	A	4: 46,382,568 (GRCm39)	H183L	probably benign	Het
Trpm1	C	A	7: 63,918,710 (GRCm39)	C683*	probably null	Het
Vsig10	T	G	5: 117,476,335 (GRCm39)	L263R	probably damaging	Het
Zfp874a	A	T	13: 67,590,812 (GRCm39)	Y291N	probably benign	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
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
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'- CAGAAGGACCAGATTCTGTCG -3'
(R):5'- GAGCCCTGTCTTCCAGTACTAAC -3'

Sequencing Primer
(F):5'- CCAGATTCTGTCGGAGAAGGCTG -3'
(R):5'- ACACTTTATCTTTCTCTTCAGGAGTC -3'

Posted On

2017-02-10