Mutagenetix > Incidental Mutation

Incidental Mutation 'R9633:Ms4a8a'

725688

Institutional Source

Beutler Lab

Gene Symbol

Ms4a8a

Ensembl Gene

ENSMUSG00000024730

Gene Name

membrane-spanning 4-domains, subfamily A, member 8A

Synonyms

2010004L09Rik, CD20L5, Ms4a8

MMRRC Submission

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.053) question?

Stock #

R9633 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

11044835-11058466 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 11056956 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 42 (V42A)

Ref Sequence

ENSEMBL: ENSMUSP00000025636 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000025636]

AlphaFold

Q99N10

Predicted Effect

probably benign
Transcript: ENSMUST00000025636
AA Change: V42A

PolyPhen 2 Score 0.362 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000025636
Gene: ENSMUSG00000024730
AA Change: V42A

Domain	Start	End	E-Value	Type
Pfam:CD20	109	247	3.7e-22	PFAM
low complexity region	266	284	N/A	INTRINSIC

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.2%

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 this protein family are characterized by common structural features and similar intron/exon splice boundaries and display unique expression patterns among hematopoietic cells and nonlymphoid tissues. The gene encoding this protein is localized to 11q12.3, among a cluster of family members. [provided by RefSeq, Jul 2008]

Allele List at MGI

Other mutations in this stock

Total: 48 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acot11	A	G	4: 106,613,178 (GRCm39)	V319A	probably damaging	Het
Afap1l1	A	C	18: 61,890,795 (GRCm39)	S53A	possibly damaging	Het
Alms1	T	A	6: 85,600,125 (GRCm39)	N1650K	probably damaging	Het
Atf6b	T	A	17: 34,872,507 (GRCm39)	V553E	possibly damaging	Het
Avl9	T	A	6: 56,707,634 (GRCm39)	I193N	probably damaging	Het
Ceacam3	A	G	7: 16,895,688 (GRCm39)	N553D		Het
Dnah3	C	A	7: 119,550,216 (GRCm39)	V389L	probably benign	Het
Erich6	T	C	3: 58,537,277 (GRCm39)	M246V	probably benign	Het
F830016B08Rik	A	T	18: 60,432,965 (GRCm39)	D16V	probably damaging	Het
Fgfr1	T	A	8: 26,060,776 (GRCm39)	Y483N	probably damaging	Het
Fmo4	T	A	1: 162,631,191 (GRCm39)	M259L	probably benign	Het
Gnat2	T	A	3: 108,002,770 (GRCm39)	D59E	probably benign	Het
Izumo3	T	A	4: 92,034,795 (GRCm39)	Y94F	probably damaging	Het
Kcnb2	A	T	1: 15,781,444 (GRCm39)	H772L	probably benign	Het
Kcnrg	CACAACAA	CACAA	14: 61,845,009 (GRCm39)		probably benign	Het
Krt6b	C	T	15: 101,586,996 (GRCm39)	V259M	probably benign	Het
Lingo2	A	G	4: 35,709,885 (GRCm39)	C32R		Het
Lrrtm4	C	T	6: 80,000,064 (GRCm39)	T492M	probably damaging	Het
Maea	T	A	5: 33,526,050 (GRCm39)	M242K	possibly damaging	Het
Mdga2	T	C	12: 66,736,206 (GRCm39)	T341A	probably benign	Het
Mfsd14b	C	A	13: 65,221,414 (GRCm39)	V293L	probably benign	Het
Mmadhc	A	T	2: 50,178,988 (GRCm39)	S143R	probably benign	Het
N4bp2l2	A	T	5: 150,585,103 (GRCm39)	H292Q	probably benign	Het
Nkx2-2	A	G	2: 147,027,686 (GRCm39)	Y85H	possibly damaging	Het
Pramel14	T	C	4: 143,720,818 (GRCm39)	K41R	possibly damaging	Het
Psmb9	T	A	17: 34,402,119 (GRCm39)	D159V	probably damaging	Het
Rgs4	T	A	1: 169,572,843 (GRCm39)	D31V	possibly damaging	Het
Shank1	G	A	7: 43,962,342 (GRCm39)	S71N	unknown	Het
Slc22a14	A	G	9: 119,008,528 (GRCm39)	S247P	probably benign	Het
Slc26a7	G	A	4: 14,524,540 (GRCm39)	T448I	possibly damaging	Het
Slc7a14	T	A	3: 31,278,166 (GRCm39)	T480S	probably benign	Het
Spocd1	T	C	4: 129,850,463 (GRCm39)	S830P	unknown	Het
Sycp2	A	G	2: 177,998,254 (GRCm39)	S1089P	probably damaging	Het
Tcf4	A	T	18: 69,726,382 (GRCm39)		probably benign	Het
Tktl2	T	C	8: 66,965,813 (GRCm39)	V457A	probably benign	Het
Tmem131	A	T	1: 36,847,069 (GRCm39)	I1343N	probably damaging	Het
Tnrc6c	G	A	11: 117,638,009 (GRCm39)	A1164T	probably damaging	Het
Tomm5	G	A	4: 45,107,982 (GRCm39)	R18W	probably damaging	Het
Ubxn7	T	C	16: 32,200,248 (GRCm39)	S335P	probably benign	Het
Unc5c	A	C	3: 141,495,654 (GRCm39)	T508P	probably damaging	Het
Upp1	G	A	11: 9,084,909 (GRCm39)	M209I		Het
Vmn1r213	A	G	13: 23,195,519 (GRCm39)	D34G	unknown	Het
Vmn1r235	G	T	17: 21,482,330 (GRCm39)	W218C	possibly damaging	Het
Vmn1r235	G	T	17: 21,482,329 (GRCm39)	W218L	probably benign	Het
Vmn2r57	T	C	7: 41,076,006 (GRCm39)	E502G	probably benign	Het
Wwc2	GCC	GCCC	8: 48,304,959 (GRCm39)		probably null	Het
Zfc3h1	T	A	10: 115,247,852 (GRCm39)	H1018Q	probably damaging	Het
Zfp318	T	A	17: 46,710,421 (GRCm39)	S715T	probably damaging	Het

Other mutations in Ms4a8a

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00949:Ms4a8a	APN	19	11,056,808 (GRCm39)	missense	probably benign	0.34
IGL00975:Ms4a8a	APN	19	11,048,151 (GRCm39)	missense	probably damaging	1.00
H8786:Ms4a8a	UTSW	19	11,053,725 (GRCm39)	missense	possibly damaging	0.61
R1084:Ms4a8a	UTSW	19	11,053,726 (GRCm39)	missense	probably damaging	1.00
R1586:Ms4a8a	UTSW	19	11,053,696 (GRCm39)	missense	possibly damaging	0.89
R1699:Ms4a8a	UTSW	19	11,053,761 (GRCm39)	missense	probably damaging	1.00
R5227:Ms4a8a	UTSW	19	11,045,780 (GRCm39)	missense	probably damaging	0.99
R5510:Ms4a8a	UTSW	19	11,056,828 (GRCm39)	missense	probably benign
R6116:Ms4a8a	UTSW	19	11,058,436 (GRCm39)	missense	unknown
R6819:Ms4a8a	UTSW	19	11,053,743 (GRCm39)	missense	probably damaging	1.00
R7470:Ms4a8a	UTSW	19	11,053,714 (GRCm39)	missense	possibly damaging	0.92
R7876:Ms4a8a	UTSW	19	11,056,848 (GRCm39)	missense	probably damaging	1.00
RF022:Ms4a8a	UTSW	19	11,053,689 (GRCm39)	missense	possibly damaging	0.89
Z1176:Ms4a8a	UTSW	19	11,048,124 (GRCm39)	missense	possibly damaging	0.75

Predicted Primers

PCR Primer
(F):5'- TTCAAGACTCTCTGGGCAGG -3'
(R):5'- CAAATAGGTGGGGTTGAATTGC -3'

Sequencing Primer
(F):5'- AGGCGGTTCGGTCATAGC -3'
(R):5'- CCACAGGACTATATAGGGTGTCTC -3'

Posted On

2022-09-12