Mutagenetix > Incidental Mutation

Incidental Mutation 'R6324:Ms4a19'

510674

Institutional Source

Beutler Lab

Gene Symbol

Ms4a19

Ensembl Gene

ENSMUSG00000024728

Gene Name

membrane-spanning 4-domains, subfamily A, member 19

Synonyms

1700025F22Rik

MMRRC Submission

044478-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.059) question?

Stock #

R6324 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

11117028-11142684 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 11140811 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Leucine at position 3 (M3L)

Ref Sequence

ENSEMBL: ENSMUSP00000077828 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000078770] [ENSMUST00000180678] [ENSMUST00000181284] [ENSMUST00000181567]

AlphaFold

Q9D9Y7

Predicted Effect

probably benign
Transcript: ENSMUST00000078770
AA Change: M3L

PolyPhen 2 Score 0.008 (Sensitivity: 0.96; Specificity: 0.76)

SMART Domains

Protein: ENSMUSP00000077828
Gene: ENSMUSG00000024728
AA Change: M3L

Domain	Start	End	E-Value	Type
Pfam:CD20	17	101	1.2e-8	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000180678

SMART Domains

Protein: ENSMUSP00000137968
Gene: ENSMUSG00000024728

Domain	Start	End	E-Value	Type
transmembrane domain	5	25	N/A	INTRINSIC
transmembrane domain	40	62	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000181284

SMART Domains

Protein: ENSMUSP00000137829
Gene: ENSMUSG00000024728

Domain	Start	End	E-Value	Type
transmembrane domain	5	25	N/A	INTRINSIC
transmembrane domain	40	62	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000181567

SMART Domains

Protein: ENSMUSP00000137806
Gene: ENSMUSG00000024728

Domain	Start	End	E-Value	Type
transmembrane domain	5	25	N/A	INTRINSIC
transmembrane domain	40	62	N/A	INTRINSIC

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.7%

Validation Efficiency

96% (47/49)

Allele List at MGI

Other mutations in this stock

Total: 50 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Arhgef4	G	A	1: 34,762,558 (GRCm39)	A605T	unknown	Het
Atp13a3	A	G	16: 30,151,103 (GRCm39)	V1069A	possibly damaging	Het
Atp1a2	C	G	1: 172,116,903 (GRCm39)	R238P	probably damaging	Het
Baz2b	A	G	2: 59,737,292 (GRCm39)	S1877P	probably damaging	Het
Ccdc27	A	T	4: 154,120,648 (GRCm39)	S383T	probably benign	Het
Cr1l	A	G	1: 194,793,430 (GRCm39)	V377A	probably benign	Het
Dazap1	A	G	10: 80,113,494 (GRCm39)	E130G	probably benign	Het
Dchs1	G	T	7: 105,414,145 (GRCm39)	A890E	probably benign	Het
Dock10	G	A	1: 80,482,893 (GRCm39)	T2143I	probably benign	Het
Eif3j1	A	G	2: 121,871,659 (GRCm39)	D60G	probably benign	Het
Enah	A	G	1: 181,746,136 (GRCm39)	S382P	probably damaging	Het
Fam171b	A	T	2: 83,709,608 (GRCm39)	K427*	probably null	Het
Fmn2	A	T	1: 174,440,119 (GRCm39)	I1179L	possibly damaging	Het
Focad	C	T	4: 88,319,305 (GRCm39)	R1505*	probably null	Het
Frem1	T	C	4: 82,901,574 (GRCm39)	T985A	probably benign	Het
Gm3404	A	T	5: 146,464,917 (GRCm39)	Q219L	possibly damaging	Het
Gm5592	A	C	7: 40,935,959 (GRCm39)	S154R	probably damaging	Het
Gpn3	C	T	5: 122,510,638 (GRCm39)		probably benign	Het
Gpr158	A	G	2: 21,815,365 (GRCm39)	E586G	probably damaging	Het
Gstp2	A	T	19: 4,090,499 (GRCm39)	I162N	probably benign	Het
Lin7a	T	A	10: 107,216,076 (GRCm39)		probably null	Het
Loxl4	G	A	19: 42,583,817 (GRCm39)	L745F	probably benign	Het
Mybpc1	A	G	10: 88,404,481 (GRCm39)	I172T	possibly damaging	Het
Nalcn	A	G	14: 123,647,161 (GRCm39)	W571R	possibly damaging	Het
Nkx2-5	G	C	17: 27,060,095 (GRCm39)	P79A	probably benign	Het
Nufip2	A	G	11: 77,582,487 (GRCm39)	T134A	probably benign	Het
Odad1	A	G	7: 45,591,134 (GRCm39)	E203G	probably damaging	Het
Or13p4	G	A	4: 118,547,728 (GRCm39)		probably benign	Het
Or5al1	C	T	2: 85,989,800 (GRCm39)	V305I	probably benign	Het
Or5b109	A	G	19: 13,212,468 (GRCm39)	M285V	possibly damaging	Het
Phkb	A	G	8: 86,745,171 (GRCm39)	D616G	probably benign	Het
Plch1	C	T	3: 63,688,811 (GRCm39)	W131*	probably null	Het
Prl7b1	A	T	13: 27,786,878 (GRCm39)		probably null	Het
Prop1	G	A	11: 50,843,026 (GRCm39)	P54S	probably benign	Het
Ptcd3	C	T	6: 71,862,311 (GRCm39)	V509I	probably benign	Het
Ptprg	T	A	14: 12,226,314 (GRCm38)	D527E	probably damaging	Het
Rapgef2	C	T	3: 78,986,439 (GRCm39)	V1182I	probably benign	Het
Rfx7	C	A	9: 72,525,696 (GRCm39)	P962Q	probably damaging	Het
Rsf1	CG	CGACGGCGGTG	7: 97,229,115 (GRCm39)		probably benign	Homo
Slc38a9	A	G	13: 112,862,634 (GRCm39)	I444M	probably benign	Het
Sorbs1	T	C	19: 40,310,263 (GRCm39)	T492A	probably damaging	Het
Synj1	A	T	16: 90,735,518 (GRCm39)	S1478R	probably benign	Het
Tnn	T	A	1: 159,972,774 (GRCm39)	N276I	probably damaging	Het
Trbv19	G	A	6: 41,155,692 (GRCm39)	G21D	probably damaging	Het
Ube2o	A	T	11: 116,430,185 (GRCm39)	D1184E	probably benign	Het
Vmn1r181	G	A	7: 23,684,183 (GRCm39)	R216Q	probably benign	Het
Vmn2r108	A	T	17: 20,691,977 (GRCm39)	L182*	probably null	Het
Vmn2r15	A	G	5: 109,434,137 (GRCm39)	*856R	probably null	Het
Vmn2r70	G	A	7: 85,208,087 (GRCm39)	H797Y	probably benign	Het
Zfp11	C	T	5: 129,733,587 (GRCm39)	A625T	possibly damaging	Het

Other mutations in Ms4a19

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02821:Ms4a19	APN	19	11,118,897 (GRCm39)	makesense	probably null
R0963:Ms4a19	UTSW	19	11,118,921 (GRCm39)	missense	possibly damaging	0.94
R1490:Ms4a19	UTSW	19	11,118,902 (GRCm39)	missense	probably benign
R5528:Ms4a19	UTSW	19	11,118,999 (GRCm39)	missense	possibly damaging	0.90
R6351:Ms4a19	UTSW	19	11,119,765 (GRCm39)	missense	probably damaging	1.00
R9342:Ms4a19	UTSW	19	11,119,775 (GRCm39)	missense	possibly damaging	0.71
R9761:Ms4a19	UTSW	19	11,119,754 (GRCm39)	missense	probably benign

Predicted Primers

PCR Primer
(F):5'- CTTCGCAAGCCACTGTAATC -3'
(R):5'- TCTCTGGTGCAAAAGAACCTG -3'

Sequencing Primer
(F):5'- TCGCAAGCCACTGTAATCGATTTAC -3'
(R):5'- GGCTTAGGAATCTTACCCA -3'

Posted On

2018-04-02