Mutagenetix > Incidental Mutation

Incidental Mutation 'R5426:Ms4a7'

426929

Institutional Source

Beutler Lab

Gene Symbol

Ms4a7

Ensembl Gene

ENSMUSG00000024672

Gene Name

membrane-spanning 4-domains, subfamily A, member 7

Synonyms

9130422I10Rik, CD20l4, CFFMA, A430103C15Rik

MMRRC Submission

042992-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.055) question?

Stock #

R5426 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

11321039-11336146 bp(-) (GRCm38)

Type of Mutation

splice site (5 bp from exon)

DNA Base Change (assembly)

C to T at 11325802 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000064534 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000025574] [ENSMUST00000056035] [ENSMUST00000067532] [ENSMUST00000159269]

AlphaFold

E9Q9V5

Predicted Effect

probably null
Transcript: ENSMUST00000025574

SMART Domains

Protein: ENSMUSP00000025574
Gene: ENSMUSG00000024672

Domain	Start	End	E-Value	Type
Pfam:CD20	80	237	4.6e-36	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000056035

SMART Domains

Protein: ENSMUSP00000054830
Gene: ENSMUSG00000024672

Domain	Start	End	E-Value	Type
transmembrane domain	53	72	N/A	INTRINSIC
Pfam:CD20	92	185	3.2e-14	PFAM

Predicted Effect

probably null
Transcript: ENSMUST00000067532

SMART Domains

Protein: ENSMUSP00000064534
Gene: ENSMUSG00000024672

Domain	Start	End	E-Value	Type
Pfam:CD20	47	204	4.9e-32	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000159269

SMART Domains

Protein: ENSMUSP00000124911
Gene: ENSMUSG00000024672

Domain	Start	End	E-Value	Type
Pfam:CD20	1	100	1.4e-14	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000162785

Meta Mutation Damage Score

0.9755

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 97.0%
20x: 94.6%

Validation Efficiency

97% (85/88)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the membrane-spanning 4A gene family, members of which are characterized by common structural features and similar intron/exon splice boundaries and display unique expression patterns in hematopoietic cells and nonlymphoid tissues. This family member is associated with mature cellular function in the monocytic lineage, and it may be a component of a receptor complex involved in signal transduction. This gene is localized to 11q12, in a cluster of other family members. At least four alternatively spliced transcript variants encoding two distinct isoforms have been observed. [provided by RefSeq, Jul 2008]

Allele List at MGI

Other mutations in this stock

Total: 80 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2010315B03Rik	T	A	9: 124,294,003	H122L	probably damaging	Het
9330182O14Rik	G	A	15: 40,148,537	D91N	unknown	Het
9330182O14Rik	G	A	15: 40,148,536	M90I	unknown	Het
Abca13	T	A	11: 9,290,722	S862T	probably damaging	Het
Acyp2	C	T	11: 30,506,354	E98K	possibly damaging	Het
Adgb	C	A	10: 10,350,260	A1405S	probably benign	Het
Adpgk	T	A	9: 59,297,549	V86E	probably damaging	Het
Agfg2	G	C	5: 137,667,758	P80A	probably damaging	Het
Akap11	G	A	14: 78,498,864	Q1829*	probably null	Het
Aldh1l1	G	A	6: 90,559,299	R62Q	probably benign	Het
Als2cr12	T	A	1: 58,666,886	K275*	probably null	Het
Amd1	G	T	10: 40,290,187	D265E	probably damaging	Het
Aox4	A	T	1: 58,220,094	Q106L	probably damaging	Het
Arap2	A	T	5: 62,642,816	N1289K	probably benign	Het
Arhgef12	T	C	9: 42,986,584	S874G	probably damaging	Het
BC067074	G	A	13: 113,369,053	V2239I	probably benign	Het
C87499	T	A	4: 88,629,410		probably benign	Het
Ccdc166	T	C	15: 75,982,096	Q45R	possibly damaging	Het
Cdc45	C	T	16: 18,795,897	R205H	probably damaging	Het
Cdk14	A	G	5: 4,888,975	S388P	possibly damaging	Het
Chgb	A	T	2: 132,793,533	Q465L	possibly damaging	Het
Commd9	T	A	2: 101,898,875	W109R	probably damaging	Het
Cyp2b9	T	C	7: 26,187,655	V163A	probably benign	Het
Dcpp2	T	A	17: 23,899,313	H27Q	possibly damaging	Het
Ddn	T	A	15: 98,806,466	E315V	possibly damaging	Het
Defb29	C	A	2: 152,538,948	C47F	probably damaging	Het
Dnah7b	T	C	1: 46,242,206	M2809T	possibly damaging	Het
Dock4	A	T	12: 40,745,745	I854F	probably damaging	Het
Dsg4	T	C	18: 20,458,484	Y427H	probably damaging	Het
E130114P18Rik	C	T	4: 97,690,670	A23T	unknown	Het
Gemin5	A	G	11: 58,125,287	S1297P	probably benign	Het
Gm10309	A	C	17: 86,498,733		probably benign	Het
Gm884	A	T	11: 103,620,760	H127Q	unknown	Het
Gpatch11	T	A	17: 78,841,234	S155R	possibly damaging	Het
Grin2b	C	A	6: 135,732,368	Q1393H	probably damaging	Het
Heatr5b	C	T	17: 78,773,713	C1370Y	probably damaging	Het
Hmcn2	C	T	2: 31,336,544	T177I	possibly damaging	Het
Ildr1	A	T	16: 36,709,619	I123F	probably damaging	Het
Kalrn	A	T	16: 34,262,653	V644D	probably damaging	Het
Kifap3	A	G	1: 163,779,871	M1V	probably null	Het
Klhl11	A	G	11: 100,464,116	L293P	probably damaging	Het
Klrc3	G	A	6: 129,641,550	S98L	probably benign	Het
Med12l	G	A	3: 59,248,722	M1220I	probably damaging	Het
Mybpc2	A	G	7: 44,509,829	V599A	probably benign	Het
Naalad2	T	C	9: 18,347,519	N487D	probably benign	Het
Nat8f7	T	G	6: 85,707,823	S12R	probably benign	Het
Nefm	T	A	14: 68,120,066		probably benign	Het
Nlrp5	T	C	7: 23,418,201	V450A	probably damaging	Het
Nps	G	A	7: 135,268,647		probably null	Het
Olfr1247	T	C	2: 89,609,739	Y121C	probably damaging	Het
Olfr142	T	A	2: 90,252,611	K126*	probably null	Het
Olfr159	A	G	4: 43,770,168	I281T	probably benign	Het
Olfr192	G	T	16: 59,098,302	P230Q	possibly damaging	Het
Olfr492	T	C	7: 108,322,810	N289D	probably damaging	Het
Olfr513	T	C	7: 108,755,717	L287P	possibly damaging	Het
Olfr698	C	A	7: 106,752,566	S274I	probably benign	Het
Oxct2a	C	A	4: 123,322,713	G292W	possibly damaging	Het
Prr27	T	C	5: 87,850,885		probably benign	Het
Ptx3	T	C	3: 66,220,722	M68T	probably damaging	Het
Rufy1	A	G	11: 50,421,734	L131S	probably damaging	Het
Sept7	T	A	9: 25,286,690	I100N	possibly damaging	Het
Sgms2	T	C	3: 131,341,797	I143V	probably benign	Het
Slc25a34	A	G	4: 141,623,566	V44A	probably damaging	Het
Slc28a3	T	A	13: 58,563,154	D518V	probably damaging	Het
Slc6a7	C	T	18: 61,003,236		probably null	Het
Slco4a1	C	A	2: 180,471,235	A420D	possibly damaging	Het
Smap1	T	C	1: 23,849,390	T180A	probably benign	Het
Specc1l	T	C	10: 75,267,550	S920P	probably benign	Het
Tgtp2	A	G	11: 49,059,256	M163T	probably benign	Het
Tiam1	G	T	16: 89,865,392	Q613K	possibly damaging	Het
Vsig10l	T	A	7: 43,464,823	S190T	probably damaging	Het
Vwa3b	A	G	1: 37,115,671	Y512C	probably damaging	Het
Wdfy3	T	A	5: 101,919,446	N1207Y	probably damaging	Het
Wdr17	C	T	8: 54,681,399	G349R	probably damaging	Het
Wdr70	A	G	15: 7,922,105	L417S	possibly damaging	Het
Wdr81	A	C	11: 75,450,896	S1182A	possibly damaging	Het
Zfp458	A	T	13: 67,257,192	C391*	probably null	Het
Zfp638	A	G	6: 83,976,414	E1167G	probably damaging	Het
Zfp763	T	A	17: 33,019,595	D192V	probably benign	Het
Zfp853	T	G	5: 143,288,869	Q332P	unknown	Het

Other mutations in Ms4a7

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00233:Ms4a7	APN	19	11322360	missense	probably damaging	0.98
IGL01845:Ms4a7	APN	19	11322387	missense	possibly damaging	0.86
IGL02409:Ms4a7	APN	19	11324443	nonsense	probably null
R1851:Ms4a7	UTSW	19	11324424	missense	probably benign	0.08
R5468:Ms4a7	UTSW	19	11322414	missense	probably benign	0.39
R6267:Ms4a7	UTSW	19	11333295	missense	possibly damaging	0.88
R6756:Ms4a7	UTSW	19	11324525	missense	possibly damaging	0.93
R6990:Ms4a7	UTSW	19	11333241	missense	probably damaging	0.99
R7260:Ms4a7	UTSW	19	11322346	missense	probably damaging	1.00
R7272:Ms4a7	UTSW	19	11333278	nonsense	probably null
R7397:Ms4a7	UTSW	19	11321552	missense	probably benign	0.16
R7678:Ms4a7	UTSW	19	11324504	missense	probably benign	0.03

Predicted Primers

PCR Primer
(F):5'- GACAAGCTCTTTCGTACTCTGTG -3'
(R):5'- TGGGGCTGTCTCTCTGAAAG -3'

Sequencing Primer
(F):5'- GTGAAAAATGAGCACTGTCACTTC -3'
(R):5'- GGGCTGTCTCTCTGAAAGTTTCC -3'

Posted On

2016-09-01