Mutagenetix > Incidental Mutations

Incidental Mutation 'R7379:Map1s'

572580

Institutional Source

Beutler Lab

Gene Symbol

Map1s

Ensembl Gene

ENSMUSG00000019261

Gene Name

microtubule-associated protein 1S

Synonyms

Bpy2ip1, Map8, VCY2IP1, 6430517J16Rik, Mtap1s

MMRRC Submission

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R7379 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

70905932-70917529 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 70913575 bp

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 375 (T375A)

Ref Sequence

ENSEMBL: ENSMUSP00000019405 (fasta)

Gene Model

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

Predicted Effect

possibly damaging
Transcript: ENSMUST00000019405
AA Change: T375A

PolyPhen 2 Score 0.865 (Sensitivity: 0.83; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000019405
Gene: ENSMUSG00000019261
AA Change: T375A

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

probably benign
Transcript: ENSMUST00000211910

Predicted Effect

probably damaging
Transcript: ENSMUST00000212227
AA Change: T375A

PolyPhen 2 Score 0.963 (Sensitivity: 0.78; Specificity: 0.95)

Predicted Effect

probably benign
Transcript: ENSMUST00000212511

Predicted Effect

probably benign
Transcript: ENSMUST00000213001

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.6%

Validation Efficiency

100% (48/48)

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: 46 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ankrd12	G	A	17: 65,985,247	R1064*	probably null	Het
Ccdc149	A	G	5: 52,405,066	I206T	probably damaging	Het
Ctu1	AGGACCGGGCAGGAGCCACCTGTGTATCGCAGAGGGACCTGAGCCTTGGGAATGGAGGGGACCGGGCAGGAGCCACCTGTGTATCGCAG	AGGACCGGGCAGGAGCCACCTGTGTATCGCAG	7: 43,677,066		probably benign	Het
Cyp2j6	T	C	4: 96,525,946	T361A	probably damaging	Het
Cyp4a14	A	T	4: 115,493,710		probably null	Het
Cyp7b1	A	G	3: 18,097,374	V225A	probably benign	Het
Esf1	A	G	2: 140,154,934	I503T	probably benign	Het
Flrt2	G	A	12: 95,780,555	V556I	possibly damaging	Het
Gaa	T	C	11: 119,283,699	S791P	probably benign	Het
H2-T22	A	G	17: 36,042,340		probably null	Het
Hexb	A	G	13: 97,181,164	S342P	probably damaging	Het
Ift122	C	T	6: 115,926,302	R1176C	probably benign	Het
Ift57	A	G	16: 49,760,994	E341G	probably damaging	Het
Itpkc	A	T	7: 27,227,769	I240K	probably benign	Het
Kit	A	T	5: 75,647,752	S719C	probably damaging	Het
Klf1	T	A	8: 84,903,217	Y224N	possibly damaging	Het
Krt77	T	C	15: 101,861,274	E387G	probably damaging	Het
L3mbtl1	T	A	2: 162,960,979	D347E	probably damaging	Het
Mturn	A	G	6: 54,689,084	T81A	possibly damaging	Het
Mug2	A	G	6: 122,047,487	E506G	possibly damaging	Het
Notch1	A	G	2: 26,479,467	F512S	probably damaging	Het
Olfr1148	T	A	2: 87,833,779	C247S	probably damaging	Het
Olfr1255	T	A	2: 89,816,689	V115E	probably benign	Het
Olfr1410	G	T	1: 92,608,467	C210F	possibly damaging	Het
Olfr1510	T	C	14: 52,410,261	T204A	probably benign	Het
Pcdhga10	A	G	18: 37,747,566	N127D	probably damaging	Het
Plb1	A	G	5: 32,345,639	I1148V	probably damaging	Het
Plcb1	A	G	2: 135,370,510	D1007G	probably benign	Het
Prdm16	T	A	4: 154,528,859	E37V	probably damaging	Het
Prss45	C	A	9: 110,839,193	N151K	possibly damaging	Het
Rngtt	A	T	4: 33,498,981	K513*	probably null	Het
Serpinb10	T	C	1: 107,532,387		probably benign	Het
Shc1	T	C	3: 89,426,822	V402A	probably benign	Het
Slc25a38	T	A	9: 120,120,836	L227Q	probably benign	Het
Slc6a13	A	T	6: 121,336,839	K514*	probably null	Het
Sorcs3	T	C	19: 48,772,266	V911A	possibly damaging	Het
Sptb	A	T	12: 76,610,877	I1290N	probably damaging	Het
Sptbn1	T	C	11: 30,139,292	K657E	possibly damaging	Het
Stpg4	T	A	17: 87,427,640		probably null	Het
Stx2	A	G	5: 128,987,799	V278A	possibly damaging	Het
Thoc1	A	T	18: 9,992,902	N558I	probably benign	Het
Trpm2	T	C	10: 77,914,734	T1343A	probably benign	Het
Usf3	T	A	16: 44,220,576	D1806E	probably benign	Het
Vmn2r106	C	T	17: 20,267,775	M787I	possibly damaging	Het
Wdfy4	A	G	14: 33,151,609	S248P		Het
Zeb2	G	T	2: 45,001,817		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
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
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
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'- CCAAGTCGAGCTTCTGGAAG -3'
(R):5'- ATGCGTGGTAACTACTGGCC -3'

Sequencing Primer
(F):5'- GACGCTGTCCTTGTGACC -3'
(R):5'- TAACTACTGGCCTGCGCAG -3'

Posted On

2019-09-13