Mutagenetix > Incidental Mutation

Incidental Mutation 'R8974:Map1s'

683314

Institutional Source

Beutler Lab

Gene Symbol

Map1s

Ensembl Gene

ENSMUSG00000019261

Gene Name

microtubule-associated protein 1S

Synonyms

VCY2IP1, Mtap1s, Map8, 6430517J16Rik, Bpy2ip1

MMRRC Submission

068808-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R8974 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

71358618-71370173 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 71366994 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Proline at position 633 (L633P)

Ref Sequence

ENSEMBL: ENSMUSP00000019405 (fasta)

Gene Model

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

AlphaFold

Q8C052

Predicted Effect

probably damaging
Transcript: ENSMUST00000019405
AA Change: L633P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000019405
Gene: ENSMUSG00000019261
AA Change: L633P

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: L633P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

Predicted Effect

probably benign
Transcript: ENSMUST00000212511

Predicted Effect

probably benign
Transcript: ENSMUST00000213001

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.0%

Validation Efficiency

100% (59/59)

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: 60 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acat3	A	G	17: 13,143,716 (GRCm39)	V342A	probably damaging	Het
Acot4	T	C	12: 84,090,515 (GRCm39)	F404S	probably benign	Het
Alpk1	T	C	3: 127,473,580 (GRCm39)	T808A	probably benign	Het
Apba3	T	C	10: 81,109,032 (GRCm39)	V154A		Het
Arhgap27	A	T	11: 103,224,756 (GRCm39)	F476I	possibly damaging	Het
Asah2	A	T	19: 32,030,305 (GRCm39)	D122E	probably benign	Het
Asb10	T	C	5: 24,745,209 (GRCm39)	I47V	probably benign	Het
Catsperd	A	G	17: 56,959,525 (GRCm39)	T322A	possibly damaging	Het
Ccdc142	T	C	6: 83,078,963 (GRCm39)	V100A	probably benign	Het
Cdc5l	A	T	17: 45,715,621 (GRCm39)	C664S	possibly damaging	Het
Cep250	C	T	2: 155,812,042 (GRCm39)	A446V	unknown	Het
Cep89	A	G	7: 35,097,493 (GRCm39)	S40G	probably damaging	Het
Csmd2	A	G	4: 128,446,380 (GRCm39)	K3315R		Het
Cyp2d34	T	C	15: 82,500,537 (GRCm39)	E434G	probably damaging	Het
Degs1	A	G	1: 182,107,278 (GRCm39)	Y30H	probably benign	Het
Eps8l1	A	G	7: 4,474,817 (GRCm39)	D266G	probably damaging	Het
Fam168a	A	T	7: 100,484,611 (GRCm39)	T234S	probably benign	Het
Fzd3	G	T	14: 65,472,440 (GRCm39)	Q443K	possibly damaging	Het
Galnt7	A	G	8: 58,105,934 (GRCm39)	S27P		Het
Gpr162	T	C	6: 124,837,876 (GRCm39)	D258G	probably damaging	Het
Hdac2	A	G	10: 36,862,340 (GRCm39)	Y68C	probably damaging	Het
Lmbr1l	A	G	15: 98,810,408 (GRCm39)	C68R	probably damaging	Het
Loxhd1	A	G	18: 77,518,899 (GRCm39)	T1902A	possibly damaging	Het
Lrrc4c	T	C	2: 97,459,992 (GRCm39)	M206T	probably damaging	Het
Lrrc75b	T	C	10: 75,389,848 (GRCm39)	T168A	probably benign	Het
Magi1	A	G	6: 93,674,223 (GRCm39)	F1003L	probably damaging	Het
Mapk11	G	A	15: 89,028,014 (GRCm39)	T341I	probably benign	Het
Mycbp2	A	T	14: 103,361,857 (GRCm39)	V4441D	probably damaging	Het
Nin	T	C	12: 70,124,932 (GRCm39)	E130G		Het
Nod2	T	A	8: 89,390,433 (GRCm39)	Y247N	probably damaging	Het
Nudcd3	A	T	11: 6,143,163 (GRCm39)	V169E	probably benign	Het
Or2w2	A	T	13: 21,758,203 (GRCm39)	I141N	probably damaging	Het
Or51v15-ps1	T	C	7: 103,278,489 (GRCm39)	Y226C	unknown	Het
Or6c200-ps1	A	C	10: 128,869,905 (GRCm39)	C269G	probably damaging	Het
Pcdh9	A	C	14: 94,125,113 (GRCm39)	N352K	probably benign	Het
Pfpl	G	A	19: 12,405,839 (GRCm39)	G30D	probably damaging	Het
Pi15	A	G	1: 17,691,675 (GRCm39)	D159G	possibly damaging	Het
Plxna4	G	T	6: 32,216,447 (GRCm39)	R543S	possibly damaging	Het
Ppp1r12c	C	T	7: 4,486,698 (GRCm39)	E543K	probably damaging	Het
Prkdc	T	A	16: 15,617,726 (GRCm39)		probably null	Het
Proca1	T	C	11: 78,096,144 (GRCm39)	S172P	probably damaging	Het
Ralgapa1	C	A	12: 55,723,791 (GRCm39)	M1578I	probably benign	Het
Rnf103	C	A	6: 71,486,092 (GRCm39)	A241E	probably damaging	Het
Rorb	T	C	19: 18,955,070 (GRCm39)	D182G	probably benign	Het
Ryr3	T	C	2: 112,742,624 (GRCm39)	K485E	possibly damaging	Het
Sec24d	G	A	3: 123,099,498 (GRCm39)	D324N	probably damaging	Het
Serpina3f	T	A	12: 104,183,642 (GRCm39)	I168N	probably damaging	Het
Sidt1	A	T	16: 44,101,980 (GRCm39)	*62R	probably null	Het
Slc22a27	A	C	19: 7,903,751 (GRCm39)	S129A	probably damaging	Het
Spata31e1	T	C	13: 49,939,556 (GRCm39)	D718G	probably benign	Het
Stab1	A	G	14: 30,882,779 (GRCm39)	V408A	probably benign	Het
Svil	G	T	18: 5,099,650 (GRCm39)	G1729W	probably damaging	Het
Tbx20	A	G	9: 24,681,082 (GRCm39)	S137P	probably damaging	Het
Tcstv2c	T	A	13: 120,616,486 (GRCm39)	D108E	probably benign	Het
Trem2	G	A	17: 48,655,599 (GRCm39)	R52Q	probably damaging	Het
Trim55	T	C	3: 19,699,603 (GRCm39)	S112P	probably damaging	Het
Vmn1r172	A	T	7: 23,359,840 (GRCm39)	M242L	probably benign	Het
Vmn2r91	G	A	17: 18,325,636 (GRCm39)	A85T	probably benign	Het
Zc3h3	T	C	15: 75,657,452 (GRCm39)	T580A	probably benign	Het
Zfp451	A	G	1: 33,816,535 (GRCm39)	C472R	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
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
R9701:Map1s	UTSW	8	71,369,712 (GRCm39)	missense	possibly damaging	0.92
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'- AACATCTTGGAGTCTGAGCG -3'
(R):5'- GATAGTGTGGGCAGTGACTC -3'

Sequencing Primer
(F):5'- AACTCTGTCCCCAGCTCAG -3'
(R):5'- TGACTCGCTCACAGACGTG -3'

Posted On

2021-10-11