Mutagenetix > Incidental Mutation

Incidental Mutation 'R9701:Map1s'

729576

Institutional Source

Beutler Lab

Gene Symbol

Map1s

Ensembl Gene

ENSMUSG00000019261

Gene Name

microtubule-associated protein 1S

Synonyms

VCY2IP1, Mtap1s, Map8, 6430517J16Rik, Bpy2ip1

MMRRC Submission

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R9701 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

71358618-71370173 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 71369712 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Isoleucine at position 928 (T928I)

Ref Sequence

ENSEMBL: ENSMUSP00000019405 (fasta)

Gene Model

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

AlphaFold

Q8C052

Predicted Effect

possibly damaging
Transcript: ENSMUST00000019405
AA Change: T928I

PolyPhen 2 Score 0.915 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000019405
Gene: ENSMUSG00000019261
AA Change: T928I

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: ENSMUST00000212227

Predicted Effect

probably benign
Transcript: ENSMUST00000213001

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 98.9%

Validation Efficiency

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: 62 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcc8	T	C	7: 45,786,054 (GRCm39)	D673G	probably benign	Het
Alg8	T	A	7: 97,027,486 (GRCm39)	V118E	possibly damaging	Het
Ap4e1	T	C	2: 126,875,563 (GRCm39)	V218A	probably benign	Het
Armc12	A	T	17: 28,751,375 (GRCm39)	D123V	probably damaging	Het
Bltp3b	G	A	10: 89,615,755 (GRCm39)	V133I	probably benign	Het
Bms1	T	A	6: 118,368,147 (GRCm39)	K1039I	probably damaging	Het
Col4a2	A	G	8: 11,493,104 (GRCm39)	N1299S	probably benign	Het
Cux1	T	C	5: 136,343,169 (GRCm39)	D405G	probably damaging	Het
Cwf19l2	A	T	9: 3,430,454 (GRCm39)	Q262L	probably damaging	Het
Dclk3	A	G	9: 111,298,244 (GRCm39)	D596G	probably damaging	Het
Dnah7a	A	T	1: 53,561,388 (GRCm39)	C2090S	probably benign	Het
Dock7	T	C	4: 98,846,384 (GRCm39)	D1749G	unknown	Het
Dock9	A	T	14: 121,876,983 (GRCm39)	C463S	probably benign	Het
Dyrk1b	G	A	7: 27,885,838 (GRCm39)	R548Q	probably damaging	Het
Egr1	T	C	18: 34,995,674 (GRCm39)	F152S	probably damaging	Het
Eln	C	A	5: 134,744,559 (GRCm39)	A479S	unknown	Het
Gm973	T	A	1: 59,566,032 (GRCm39)	W84R	possibly damaging	Het
Gnpat	A	G	8: 125,613,678 (GRCm39)	K642E	probably benign	Het
Gpr180	G	A	14: 118,391,302 (GRCm39)	G235R	probably damaging	Het
Gpx6	A	T	13: 21,501,777 (GRCm39)	Q133L	probably benign	Het
Gzmn	T	C	14: 56,405,310 (GRCm39)	Y58C	probably benign	Het
Hcfc2	G	T	10: 82,574,269 (GRCm39)	G148*	probably null	Het
Hspa5	C	T	2: 34,664,649 (GRCm39)	R368*	probably null	Het
Igkv3-10	T	C	6: 70,550,001 (GRCm39)	V49A	probably damaging	Het
Inpp5f	A	C	7: 128,278,515 (GRCm39)	D435A	possibly damaging	Het
Jmjd1c	A	T	10: 67,060,745 (GRCm39)	I852F	possibly damaging	Het
Lhx5	T	A	5: 120,572,663 (GRCm39)	V94E	possibly damaging	Het
Mib1	T	A	18: 10,798,494 (GRCm39)	L785H	probably damaging	Het
Mrgpra6	C	T	7: 46,835,533 (GRCm39)	R296K	probably benign	Het
Mrpl9	A	G	3: 94,351,892 (GRCm39)		probably null	Het
Mutyh	A	G	4: 116,676,485 (GRCm39)	S486G	probably benign	Het
Naa15	T	A	3: 51,349,370 (GRCm39)	Y96*	probably null	Het
Nlrp1a	T	C	11: 70,987,946 (GRCm39)	S1175G	probably benign	Het
Nup153	A	T	13: 46,840,211 (GRCm39)	D1132E	probably benign	Het
Nxf1	G	A	19: 8,739,772 (GRCm39)	G42D	probably damaging	Het
Or13j1	C	A	4: 43,705,793 (GRCm39)	M258I	probably benign	Het
Plekhg6	C	T	6: 125,347,602 (GRCm39)	V451I	probably benign	Het
Prkab1	T	C	5: 116,162,274 (GRCm39)	E12G	probably benign	Het
Ptprd	A	G	4: 75,916,896 (GRCm39)	Y752H	probably damaging	Het
Rbm12	A	G	2: 155,938,166 (GRCm39)	I702T	probably benign	Het
Rnf212	A	G	5: 108,922,738 (GRCm39)		probably null	Het
Sall3	C	A	18: 81,017,443 (GRCm39)	A162S	probably benign	Het
Sec24d	T	C	3: 123,063,321 (GRCm39)	S13P	probably damaging	Het
Serpina16	T	C	12: 103,638,873 (GRCm39)	Q238R	probably benign	Het
Shank1	G	A	7: 43,962,342 (GRCm39)	S71N	unknown	Het
Skint3	T	A	4: 112,111,094 (GRCm39)	V73E	probably damaging	Het
Slc6a20a	T	A	9: 123,489,585 (GRCm39)	T153S	probably damaging	Het
Slc6a6	T	C	6: 91,700,478 (GRCm39)	Y69H	probably damaging	Het
Sorl1	A	G	9: 42,003,766 (GRCm39)	Y177H	probably damaging	Het
Srbd1	T	C	17: 86,433,559 (GRCm39)	Y346C	probably damaging	Het
Syne2	A	G	12: 76,037,197 (GRCm39)	E3792G	probably damaging	Het
Tg	C	G	15: 66,637,991 (GRCm39)	T2268S	probably benign	Het
Thbs1	A	G	2: 117,950,716 (GRCm39)	N721S	probably benign	Het
Treh	A	G	9: 44,594,648 (GRCm39)	Y275C	probably damaging	Het
Trpv5	G	T	6: 41,651,594 (GRCm39)	H195N	possibly damaging	Het
Tshz1	A	G	18: 84,032,579 (GRCm39)	S610P	possibly damaging	Het
Ttll4	A	G	1: 74,720,482 (GRCm39)	N499S	probably benign	Het
Ttn	G	T	2: 76,748,927 (GRCm39)	H4041N	probably benign	Het
Ubtf	A	G	11: 102,199,718 (GRCm39)		probably null	Het
Urod	C	T	4: 116,849,778 (GRCm39)	V207M	probably damaging	Het
Vegfa	G	A	17: 46,342,713 (GRCm39)	P35L	probably damaging	Het
Zc3h7b	C	T	15: 81,676,505 (GRCm39)	P749L	probably damaging	Het

Other mutations in Map1s

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00905:Map1s	APN	8	71,358,673 (GRCm39)	unclassified	probably benign
IGL01012:Map1s	APN	8	71,366,554 (GRCm39)	missense	probably benign	0.00
IGL01729:Map1s	APN	8	71,365,712 (GRCm39)	missense	probably damaging	1.00
IGL03158:Map1s	APN	8	71,367,378 (GRCm39)	missense	probably damaging	0.97
E0374:Map1s	UTSW	8	71,358,661 (GRCm39)	unclassified	probably benign
R0026:Map1s	UTSW	8	71,367,282 (GRCm39)	missense	probably damaging	1.00
R0172:Map1s	UTSW	8	71,367,612 (GRCm39)	missense	probably benign	0.00
R0571:Map1s	UTSW	8	71,365,551 (GRCm39)	missense	probably damaging	1.00
R0666:Map1s	UTSW	8	71,366,696 (GRCm39)	missense	possibly damaging	0.88
R0904:Map1s	UTSW	8	71,366,832 (GRCm39)	missense	probably damaging	0.96
R1617:Map1s	UTSW	8	71,366,095 (GRCm39)	missense	probably damaging	1.00
R1834:Map1s	UTSW	8	71,369,055 (GRCm39)	missense	probably damaging	0.97
R2134:Map1s	UTSW	8	71,366,526 (GRCm39)	missense	probably benign	0.00
R2143:Map1s	UTSW	8	71,363,608 (GRCm39)	missense	probably damaging	1.00
R3413:Map1s	UTSW	8	71,365,163 (GRCm39)	missense	probably damaging	0.99
R3870:Map1s	UTSW	8	71,369,745 (GRCm39)	missense	possibly damaging	0.82
R5555:Map1s	UTSW	8	71,369,751 (GRCm39)	missense	probably damaging	0.97
R5784:Map1s	UTSW	8	71,367,002 (GRCm39)	missense	probably damaging	1.00
R6630:Map1s	UTSW	8	71,366,442 (GRCm39)	missense	probably damaging	1.00
R7379:Map1s	UTSW	8	71,366,219 (GRCm39)	missense	possibly damaging	0.87
R7569:Map1s	UTSW	8	71,366,142 (GRCm39)	missense	probably benign	0.05
R8415:Map1s	UTSW	8	71,365,910 (GRCm39)	missense	probably damaging	1.00
R8440:Map1s	UTSW	8	71,365,163 (GRCm39)	missense	probably damaging	0.99
R8784:Map1s	UTSW	8	71,358,909 (GRCm39)	missense	unknown
R8974:Map1s	UTSW	8	71,366,994 (GRCm39)	missense	probably damaging	1.00
R9161:Map1s	UTSW	8	71,366,250 (GRCm39)	missense	probably damaging	1.00
R9555:Map1s	UTSW	8	71,367,236 (GRCm39)	missense	probably benign	0.27
R9566:Map1s	UTSW	8	71,365,580 (GRCm39)	missense	probably benign	0.03
R9730:Map1s	UTSW	8	71,369,178 (GRCm39)	missense	possibly damaging	0.90
Z1088:Map1s	UTSW	8	71,369,093 (GRCm39)	missense	possibly damaging	0.66
Z1177:Map1s	UTSW	8	71,367,161 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- GATAGGATGGCGCAACCTTAG -3'
(R):5'- AGCACGGGATCTAGCTTTGC -3'

Sequencing Primer
(F):5'- GCAACCTTAGTGGCTGGTG -3'
(R):5'- GATCTAGCTTTGCACATGGAGCC -3'

Posted On

2022-10-06