Mutagenetix > Incidental Mutations

Incidental Mutation 'R5468:Ms4a7'

433385

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

043029-MU

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.056) question?

Stock #

R5468 (G1)

Quality Score

197

Status

Not validated

Chromosome

Chromosomal Location

11321039-11336146 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 11322414 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Cysteine to Tyrosine at position 71 (C71Y)

Ref Sequence

ENSEMBL: ENSMUSP00000124911 (fasta)

Gene Model

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

AlphaFold

E9Q9V5

Predicted Effect

probably benign
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 benign
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
AA Change: C71Y

PolyPhen 2 Score 0.387 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000124911
Gene: ENSMUSG00000024672
AA Change: C71Y

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000162785

Coding Region Coverage

1x: 98.2%
3x: 97.3%
10x: 95.2%
20x: 91.0%

Validation Efficiency

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: 72 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700008O03Rik	C	T	7: 44,360,235	R181Q	probably damaging	Het
Abca13	T	A	11: 9,294,062	L1975Q	probably damaging	Het
Acp2	T	A	2: 91,206,098	I180N	probably benign	Het
Adam12	T	C	7: 133,975,473	D221G	probably damaging	Het
Adamts4	A	G	1: 171,252,609	T244A	probably benign	Het
Adrb2	A	T	18: 62,179,625	I43N	probably damaging	Het
Anxa1	A	T	19: 20,378,483	Y207N	probably damaging	Het
Apba2	T	C	7: 64,745,762	L662P	probably damaging	Het
Arhgap18	T	A	10: 26,912,671	I593K	probably damaging	Het
Arsj	T	C	3: 126,438,388	V261A	possibly damaging	Het
Atp7b	A	T	8: 22,059,970		probably null	Het
C2cd2	C	T	16: 97,868,591		probably null	Het
C530008M17Rik	A	T	5: 76,840,763		probably benign	Het
Cenpf	A	T	1: 189,652,371	S2571T	probably damaging	Het
Cep162	A	C	9: 87,227,237	L438V	probably benign	Het
Cfap74	A	T	4: 155,426,041	N361I	probably benign	Het
Cntn5	A	G	9: 9,743,628	I548T	probably damaging	Het
Dglucy	A	G	12: 100,850,335	N382S	probably benign	Het
Dnah10	C	A	5: 124,830,493	N4306K	probably damaging	Het
Fam181a	A	T	12: 103,316,678	M281L	probably benign	Het
Fam186b	A	G	15: 99,278,870	I713T	possibly damaging	Het
Fetub	C	T	16: 22,932,331	R143C	probably damaging	Het
Fry	A	T	5: 150,399,588	Y1068F	probably benign	Het
Fubp3	A	G	2: 31,603,235	I231V	probably benign	Het
Gbf1	A	G	19: 46,284,296	D1681G	possibly damaging	Het
Gm10999	G	A	8: 129,131,649	P5S	probably damaging	Het
Gm12689	T	C	4: 99,296,165	I85T	unknown	Het
Impg1	T	C	9: 80,465,265	I9V	probably benign	Het
Lama4	A	G	10: 39,072,682		probably null	Het
Lamc1	A	G	1: 153,233,564	S1161P	probably damaging	Het
Lipm	T	A	19: 34,109,554		probably null	Het
Lrrc7	G	T	3: 158,318,436	N107K	probably damaging	Het
Lypd8	T	C	11: 58,386,760	S123P	probably damaging	Het
Man2a2	T	C	7: 80,352,981	D1084G	probably damaging	Het
Man2b2	A	G	5: 36,807,175	S1000P	probably benign	Het
Mtus1	A	G	8: 41,084,578	S34P	probably benign	Het
Myo3b	A	G	2: 70,234,441	N406S	probably benign	Het
Nbr1	A	T	11: 101,572,464	M586L	probably benign	Het
Nfatc1	C	T	18: 80,649,855	R677H	probably benign	Het
Nlrc3	A	C	16: 3,964,035	S503R	probably damaging	Het
Nlrp9c	A	T	7: 26,365,000	F968I	probably benign	Het
Olfr340	A	T	2: 36,453,443	N286I	probably damaging	Het
Olfr881	G	A	9: 37,993,011	C168Y	probably damaging	Het
Olfr951	A	G	9: 39,393,961	N57D	probably benign	Het
Onecut1	A	T	9: 74,863,332	T346S	probably damaging	Het
Pclo	A	T	5: 14,680,952	K3156M	unknown	Het
Pigo	C	T	4: 43,024,562		probably null	Het
Plcb4	T	C	2: 135,967,152	F580S	probably damaging	Het
Plekhm2	G	T	4: 141,628,100	P879H	probably damaging	Het
Ppm1e	T	A	11: 87,230,890	Y747F	probably benign	Het
Ppwd1	A	G	13: 104,225,444	F69L	possibly damaging	Het
Prss27	C	A	17: 24,038,313	Q3K	possibly damaging	Het
Prss29	T	A	17: 25,321,046	N139K	possibly damaging	Het
Qrich2	T	A	11: 116,448,365	T1777S	probably damaging	Het
Rbp3	A	T	14: 33,956,627	H844L	possibly damaging	Het
Rubcnl	G	A	14: 75,032,031	C43Y	possibly damaging	Het
Sec14l5	A	G	16: 5,167,140		probably null	Het
Sepsecs	A	T	5: 52,644,014	N435K	probably damaging	Het
Sfrp1	A	G	8: 23,446,210	K223E	probably benign	Het
Sh3tc2	G	A	18: 61,973,431		probably null	Het
Slc35e2	C	T	4: 155,610,026	P10L	probably benign	Het
Tmprss7	A	G	16: 45,656,448	F817S	probably damaging	Het
Tril	T	C	6: 53,819,647	N197D	probably damaging	Het
Tspan18	T	C	2: 93,209,862	T183A	probably benign	Het
Uroc1	A	T	6: 90,338,604	M156L	probably benign	Het
Wnt16	T	C	6: 22,291,161	V196A	probably benign	Het
Xpnpep1	A	G	19: 52,995,519	Y592H	probably benign	Het
Zfp553	T	C	7: 127,237,030	S586P	probably benign	Het
Zfp619	C	T	7: 39,535,728	A394V	unknown	Het
Zfp985	A	G	4: 147,583,245	Y190C	probably benign	Het
Zmynd10	T	A	9: 107,550,337	D309E	probably benign	Het
Zmynd15	T	C	11: 70,461,820	L73P	probably damaging	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
R5426:Ms4a7	UTSW	19	11325802	splice site	probably null
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'- TTGGGCCTGTATCATTGCAG -3'
(R):5'- GCACTAGGGGTGTTTCTAATAAAGG -3'

Sequencing Primer
(F):5'- GCCTGTATCATTGCAGCTCAGAG -3'
(R):5'- GGGACTTTAAAACTGCTTCTGC -3'

Posted On

2016-10-06