Mutagenetix > Incidental Mutations

Incidental Mutation 'R3413:Map1s'

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267811

Institutional Source

Beutler Lab

Gene Symbol

Map1s

Ensembl Gene

ENSMUSG00000019261

Gene Name

microtubule-associated protein 1S

Synonyms

Bpy2ip1, Map8, VCY2IP1, 6430517J16Rik, Mtap1s

MMRRC Submission

040631-MU

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R3413 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

70905932-70917529 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 70912519 bp

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Aspartic acid at position 107 (N107D)

Ref Sequence

ENSEMBL: ENSMUSP00000019405 (fasta)

Gene Model

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000019405
AA Change: N107D

PolyPhen 2 Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000019405
Gene: ENSMUSG00000019261
AA Change: N107D

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

possibly damaging
Transcript: ENSMUST00000212227
AA Change: N107D

PolyPhen 2 Score 0.778 (Sensitivity: 0.85; Specificity: 0.93)

Predicted Effect

probably benign
Transcript: ENSMUST00000212511

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000212544

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000212697

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000212823

Predicted Effect

probably benign
Transcript: ENSMUST00000213001
AA Change: N165D

PolyPhen 2 Score 0.029 (Sensitivity: 0.95; Specificity: 0.82)

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000213083

Meta Mutation Damage Score

0.0694

Coding Region Coverage

1x: 99.1%
3x: 98.5%
10x: 97.1%
20x: 94.4%

Validation Efficiency

98% (48/49)

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: 42 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abhd13	T	C	8: 9,987,387		probably benign	Het
Ap2a2	T	A	7: 141,598,776	N105K	probably benign	Het
Axin1	A	G	17: 26,188,038	H535R	probably damaging	Het
Ccnb3	T	A	X: 7,007,801	E846D	probably benign	Het
Cdca7	G	A	2: 72,485,287	G365R	probably damaging	Het
Clvs2	T	A	10: 33,622,971		probably benign	Het
Coq10a	A	G	10: 128,365,129	V93A	possibly damaging	Het
Ddx42	A	G	11: 106,247,810	T812A	probably benign	Het
Eya1	T	A	1: 14,274,209		probably null	Het
Fcna	G	C	2: 25,627,493	P49A	probably damaging	Het
Gckr	T	A	5: 31,300,867		probably null	Het
Golgb1	A	G	16: 36,887,347	K68E	probably damaging	Het
Got1l1	A	G	8: 27,199,836		probably null	Het
Hip1	T	C	5: 135,422,172	E451G	probably damaging	Het
Hs6st2	C	T	X: 51,681,455	V50I	possibly damaging	Het
Ighv1-23	C	T	12: 114,764,467	V112I	probably benign	Het
Mmel1	T	A	4: 154,889,586	V361D	probably damaging	Het
Myh15	A	G	16: 49,138,732	D989G	probably benign	Het
Myo1g	G	T	11: 6,517,870	H188Q	possibly damaging	Het
Nup210	G	T	6: 91,025,242	Q755K	probably benign	Het
Olfr114	A	G	17: 37,589,696	V219A	probably benign	Het
Olfr638	A	G	7: 104,003,832	M186V	probably damaging	Het
Pih1h3b	T	A	X: 140,106,021	N216K	possibly damaging	Het
Plcz1	C	T	6: 140,002,081	R525Q	probably damaging	Het
Ppef2	T	G	5: 92,228,722	S649R	probably damaging	Het
Rusc2	T	G	4: 43,415,935	S414A	probably damaging	Het
Sez6l	A	G	5: 112,475,361	L108P	possibly damaging	Het
Slc1a7	A	G	4: 108,010,994	E497G	probably benign	Het
Spag8	T	A	4: 43,651,606	S423C	probably damaging	Het
Sspo	C	T	6: 48,480,697	R3178C	probably damaging	Het
St6galnac1	A	G	11: 116,765,856	W486R	probably damaging	Het
Syk	A	G	13: 52,631,739	D327G	probably benign	Het
Tbc1d8b	C	T	X: 139,713,391	A391V	probably benign	Het
Tmed9	A	G	13: 55,595,574	E173G	probably benign	Het
Top1mt	T	C	15: 75,657,176	N573S	probably benign	Het
Tusc1	C	A	4: 93,334,936	R162L	probably damaging	Het
Ubn2	A	G	6: 38,498,739	T1211A	probably benign	Het
Unc80	G	A	1: 66,639,305	V2082I	probably benign	Het
Vmn2r63	A	G	7: 42,926,982	F469S	probably benign	Het
Zfp92	C	T	X: 73,420,294		probably benign	Het
Zfyve28	C	T	5: 34,199,684	M723I	probably benign	Het
Zmynd8	A	T	2: 165,815,451	M533K	probably damaging	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
R0026:Map1s	UTSW	8	70914638	missense	probably damaging	1.00
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
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
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'- AAAGGGCTAGGTGGGTCTTC -3'
(R):5'- CTTCTCTCACCCTAGAGCACAG -3'

Sequencing Primer
(F):5'- CTTCACAGGAGTCTCACGGTGAAG -3'
(R):5'- CACAGGCTTGGGAAAGGGC -3'

Posted On

2015-02-18