Mutagenetix > Incidental Mutations

Incidental Mutation 'R0026:Map1s'

189176

Institutional Source

Beutler Lab

Gene Symbol

Map1s

Ensembl Gene

ENSMUSG00000019261

Gene Name

microtubule-associated protein 1S

Synonyms

Bpy2ip1, Map8, VCY2IP1, 6430517J16Rik, Mtap1s

MMRRC Submission

038321-MU

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R0026 (G1)

Quality Score

Status

Validated

Chromosome

Chromosomal Location

70905932-70917529 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 70914638 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Glycine to Aspartic acid at position 729 (G729D)

Ref Sequence

ENSEMBL: ENSMUSP00000148554 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000019405] [ENSMUST00000211910] [ENSMUST00000212227] [ENSMUST00000212511] [ENSMUST00000213001]

AlphaFold

Q8C052

Predicted Effect

probably damaging
Transcript: ENSMUST00000019405
AA Change: G729D

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000019405
Gene: ENSMUSG00000019261
AA Change: G729D

Domain	Start	End	E-Value	Type
low complexity region	1	32	N/A	INTRINSIC
low complexity region	125	137	N/A	INTRINSIC
low complexity region	155	165	N/A	INTRINSIC
low complexity region	208	225	N/A	INTRINSIC
SCOP:d1e5da2	237	300	2e-3	SMART
Blast:Lactamase_B	244	475	1e-85	BLAST
low complexity region	536	550	N/A	INTRINSIC
low complexity region	597	621	N/A	INTRINSIC
low complexity region	679	691	N/A	INTRINSIC
low complexity region	698	714	N/A	INTRINSIC
low complexity region	715	734	N/A	INTRINSIC
low complexity region	735	751	N/A	INTRINSIC
low complexity region	774	801	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000211880

Predicted Effect

probably benign
Transcript: ENSMUST00000211910

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000212143

Predicted Effect

probably damaging
Transcript: ENSMUST00000212227
AA Change: G729D

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

Predicted Effect

probably benign
Transcript: ENSMUST00000212511

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000212544

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000212697

Predicted Effect

probably benign
Transcript: ENSMUST00000213001

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000213083

Meta Mutation Damage Score

0.6467

Coding Region Coverage

1x: 99.3%
3x: 98.9%
10x: 97.8%
20x: 96.3%

Validation Efficiency

93% (70/75)

MGI Phenotype

PHENOTYPE: Mice homozygous for a knock-out allele exhibit defective biogenesis and degradation of autophagosomes. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 61 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1110002E22Rik	T	A	3: 138,066,805	I585N	possibly damaging	Het
4931408C20Rik	T	A	1: 26,683,369	D910V	probably benign	Het
A830005F24Rik	C	T	13: 48,514,372		probably benign	Het
Abca16	C	T	7: 120,477,923		probably benign	Het
Acot10	G	A	15: 20,666,236	L140F	probably benign	Het
Adam19	G	T	11: 46,136,259	C573F	probably damaging	Het
Aff3	A	G	1: 38,203,893	S948P	probably benign	Het
Anxa3	T	A	5: 96,838,401	Y300N	probably benign	Het
BC016579	T	C	16: 45,640,367	T113A	probably benign	Het
Bmpr1b	A	G	3: 141,870,733	L113P	probably benign	Het
Casq1	T	C	1: 172,219,400		probably benign	Het
Cdc16	T	A	8: 13,759,130		probably null	Het
Cep135	C	T	5: 76,606,734	R353*	probably null	Het
Cma1	A	T	14: 55,942,164	C188S	probably damaging	Het
Csf3r	A	G	4: 126,031,884	T151A	probably benign	Het
Cyp4b1	C	T	4: 115,647,521	G56D	possibly damaging	Het
Dbn1	T	C	13: 55,477,784	E275G	probably damaging	Het
Dlgap2	C	T	8: 14,727,363	Q203*	probably null	Het
Ephb3	A	G	16: 21,214,917	D251G	probably damaging	Het
Fancd2os	G	T	6: 113,597,691	T118N	probably damaging	Het
Gm10801	T	C	2: 98,663,909		probably benign	Het
Got1l1	C	T	8: 27,200,248	V132I	probably benign	Het
H2-M9	T	C	17: 36,641,527		probably benign	Het
Ibtk	A	G	9: 85,690,303	V1278A	probably benign	Het
Kctd3	T	C	1: 188,976,621	T519A	probably damaging	Het
Lgsn	T	A	1: 31,203,443	V202D	probably damaging	Het
Madd	A	G	2: 91,175,708	F381L	possibly damaging	Het
Mlycd	A	G	8: 119,410,435	I465V	probably benign	Het
Mrgprb1	T	C	7: 48,447,204	R108G	possibly damaging	Het
Mrgprx2	T	A	7: 48,482,023	H106L	possibly damaging	Het
Ncor1	T	C	11: 62,438,429	Y6C	probably damaging	Het
Nfkb1	T	C	3: 135,591,573	D773G	probably damaging	Het
Nxnl1	A	G	8: 71,566,573	S3P	probably damaging	Het
Olfr109	T	A	17: 37,466,803	V199D	probably damaging	Het
Olfr921	G	A	9: 38,775,596	V114I	probably benign	Het
Otud7a	T	C	7: 63,735,801	F338L	probably benign	Het
Pdcl3	T	A	1: 38,991,280	L14Q	probably damaging	Het
Pla2g7	T	A	17: 43,594,930		probably benign	Het
Prpf31	T	A	7: 3,639,668	N413K	probably benign	Het
Rapgef5	T	C	12: 117,689,161	S307P	probably benign	Het
Relt	C	A	7: 100,850,221	E164*	probably null	Het
Rnf185	T	C	11: 3,426,617	D86G	probably damaging	Het
Rrm2b	T	C	15: 37,953,741	E21G	probably benign	Het
Scn5a	A	G	9: 119,522,566	I783T	probably damaging	Het
Senp1	T	C	15: 98,076,668	R88G	probably damaging	Het
Skint5	A	T	4: 113,546,468		probably benign	Het
Slc35b1	T	C	11: 95,390,642	S294P	probably benign	Het
Slc5a2	T	A	7: 128,270,053	I335N	probably damaging	Het
Sstr1	T	A	12: 58,212,858	M89K	probably damaging	Het
Szt2	A	T	4: 118,384,772	S1612R	possibly damaging	Het
Taf1c	T	C	8: 119,604,236		probably null	Het
Taf1d	T	A	9: 15,308,648	S64R	probably damaging	Het
Tmem125	A	G	4: 118,542,073	S54P	possibly damaging	Het
Ttf1	T	A	2: 29,071,349	I583N	possibly damaging	Het
Uchl4	A	T	9: 64,235,371		probably null	Het
Unc5b	A	T	10: 60,774,592	I482N	possibly damaging	Het
Unc80	C	A	1: 66,521,584	Q824K	probably benign	Het
Utrn	T	C	10: 12,726,196		probably benign	Het
Vmn2r61	T	G	7: 42,275,474	I484R	possibly damaging	Het
Vps13b	T	C	15: 35,923,301	I3774T	possibly damaging	Het
Yipf1	T	A	4: 107,345,160	L240*	probably null	Het

Other mutations in Map1s

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00905:Map1s	APN	8	70906029	unclassified	probably benign
IGL01012:Map1s	APN	8	70913910	missense	probably benign	0.00
IGL01729:Map1s	APN	8	70913068	missense	probably damaging	1.00
IGL03158:Map1s	APN	8	70914734	missense	probably damaging	0.97
E0374:Map1s	UTSW	8	70906017	unclassified	probably benign
R0172:Map1s	UTSW	8	70914968	missense	probably benign	0.00
R0571:Map1s	UTSW	8	70912907	missense	probably damaging	1.00
R0666:Map1s	UTSW	8	70914052	missense	possibly damaging	0.88
R0904:Map1s	UTSW	8	70914188	missense	probably damaging	0.96
R1617:Map1s	UTSW	8	70913451	missense	probably damaging	1.00
R1834:Map1s	UTSW	8	70916411	missense	probably damaging	0.97
R2134:Map1s	UTSW	8	70913882	missense	probably benign	0.00
R2143:Map1s	UTSW	8	70910964	missense	probably damaging	1.00
R3413:Map1s	UTSW	8	70912519	missense	probably damaging	0.99
R3870:Map1s	UTSW	8	70917101	missense	possibly damaging	0.82
R5555:Map1s	UTSW	8	70917107	missense	probably damaging	0.97
R5784:Map1s	UTSW	8	70914358	missense	probably damaging	1.00
R6630:Map1s	UTSW	8	70913798	missense	probably damaging	1.00
R7379:Map1s	UTSW	8	70913575	missense	possibly damaging	0.87
R7569:Map1s	UTSW	8	70913498	missense	probably benign	0.05
R8415:Map1s	UTSW	8	70913266	missense	probably damaging	1.00
R8440:Map1s	UTSW	8	70912519	missense	probably damaging	0.99
R8784:Map1s	UTSW	8	70906265	missense	unknown
R8974:Map1s	UTSW	8	70914350	missense	probably damaging	1.00
R9161:Map1s	UTSW	8	70913606	missense	probably damaging	1.00
Z1088:Map1s	UTSW	8	70916449	missense	possibly damaging	0.66
Z1177:Map1s	UTSW	8	70914517	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- TGAGTTCTCTCATCGCAAGCCACC -3'
(R):5'- GCCTCTCTGAAGGCACTAAAGCTG -3'

Sequencing Primer
(F):5'- CAAGCCACCCCCTCCTG -3'
(R):5'- CAGAGGCCATCTTGGGAAC -3'

Posted On

2014-05-13