Mutagenetix > Incidental Mutation

Incidental Mutation 'RF022:Ms4a8a'

603970

Institutional Source

Beutler Lab

Gene Symbol

Ms4a8a

Ensembl Gene

ENSMUSG00000024730

Gene Name

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

Synonyms

2010004L09Rik, CD20L5, Ms4a8

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.057) question?

Stock #

RF022 (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 11053689 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 139 (V139A)

Ref Sequence

ENSEMBL: ENSMUSP00000025636 (fasta)

Gene Model

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

AlphaFold

Q99N10

Predicted Effect

possibly damaging
Transcript: ENSMUST00000025636
AA Change: V139A

PolyPhen 2 Score 0.889 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000025636
Gene: ENSMUSG00000024730
AA Change: V139A

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: 99.8%
3x: 99.7%
10x: 99.3%
20x: 98.5%

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: 54 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700001K19Rik	GTACT	GTACTACT	12: 110,634,877 (GRCm39)		probably null	Het
Acap3	CCTGGGCTGCTG	CCTGGGCTGCTGCATACTGGGCTGCTG	4: 155,989,553 (GRCm39)		probably benign	Het
Adam6b	A	T	12: 113,455,289 (GRCm39)	E702V	possibly damaging	Het
Arpc3	A	G	5: 122,538,489 (GRCm39)	T7A	probably benign	Het
Bcl3	G	A	7: 19,542,966 (GRCm39)	P393L	probably damaging	Het
Ceacam9	A	G	7: 16,459,304 (GRCm39)	D201G	possibly damaging	Het
Chga	AGC	AGCCGC	12: 102,527,679 (GRCm39)		probably benign	Het
Clgn	A	G	8: 84,152,235 (GRCm39)	K579R	probably damaging	Het
Cntnap2	C	T	6: 46,998,599 (GRCm39)	R884W	probably damaging	Het
Col6a4	A	T	9: 105,954,207 (GRCm39)	D377E	probably damaging	Het
Cort	GCCCACTCGT	G	4: 149,209,869 (GRCm39)		probably benign	Het
D5Ertd579e	A	C	5: 36,772,006 (GRCm39)	I796M	probably damaging	Het
Dmkn	GGTGGAAGTGGTGGAAG	GGTGGAAGTGGTGGAAGAGGTGGAAGTCGTGGAAGTGGTGGAAG	7: 30,466,600 (GRCm39)		probably benign	Het
Dpagt1	G	T	9: 44,243,262 (GRCm39)	V266L	possibly damaging	Het
Ebf3	C	A	7: 136,915,671 (GRCm39)		probably benign	Het
Exd2	AGCAGCCGCAGCC	AGCAGCC	12: 80,522,691 (GRCm39)		probably benign	Het
Flywch1	CACTCCTGGTGT	CACTCCTGGTGTGGGGAGGCTACGTACTCACCAACTCCTGGTGT	17: 23,981,141 (GRCm39)		probably null	Het
Gab3	CTT	CTTATT	X: 74,043,600 (GRCm39)		probably null	Het
Golga4	A	G	9: 118,387,057 (GRCm39)	D1393G	probably damaging	Het
Gpc5	G	A	14: 115,789,688 (GRCm39)	V521I	probably damaging	Het
Grik1	A	T	16: 87,693,225 (GRCm39)	N859K		Het
Insrr	G	A	3: 87,711,792 (GRCm39)	A511T	possibly damaging	Het
Isx	A	G	8: 75,600,474 (GRCm39)	D69G	probably damaging	Het
Kcnh8	G	A	17: 53,285,267 (GRCm39)	R1079H	probably benign	Het
Lkaaear1	CAGCTCCAG	CAGCTCCAGGTCGAGCTCCAG	2: 181,339,370 (GRCm39)		probably benign	Het
Lrch1	TTGGTGGTGCTGGTGG	TTGGTGG	14: 75,185,014 (GRCm39)		probably benign	Het
Magel2	A	G	7: 62,029,841 (GRCm39)	E915G	unknown	Het
Maml3	A	G	3: 51,764,083 (GRCm39)	S294P	probably damaging	Het
Mamld1	AGC	AGCCGC	X: 70,162,426 (GRCm39)		probably benign	Het
Mef2d	A	T	3: 88,075,574 (GRCm39)	T486S	probably benign	Het
Ogfr	GGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGGGCCAGAGGACCCCCAAAGCCAGGTGG	GGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGGGCCAGAGGACCCCCAAAGCCAGGTGG	2: 180,237,059 (GRCm39)		probably benign	Het
Or2z8	T	G	8: 72,812,468 (GRCm39)	*315G	probably null	Het
Pdik1l	GTTTTTGTTTT	GTTTTTGTTTTTTTTTTGTTTT	4: 134,006,678 (GRCm39)		probably null	Het
Pnma8a	TCATGATGCACCTGCTTCAACATC	TCATGATGCACCTGCTTCAACATCGCATGATGCACCTGCTTCAACATC	7: 16,695,352 (GRCm39)		probably benign	Het
Ppfibp2	T	C	7: 107,296,817 (GRCm39)	L177P	probably damaging	Het
Ppp1r13l	ACAGGCACCCTGCTCCGGC	AC	7: 19,102,467 (GRCm39)		probably benign	Het
Ptprh	A	G	7: 4,552,367 (GRCm39)	F966L	probably benign	Het
Rad17	A	G	13: 100,773,593 (GRCm39)	L132S	probably damaging	Het
Raph1	GG	GGGGG	1: 60,528,426 (GRCm39)		probably benign	Het
Rnf126	AGGACGAGG	AG	10: 79,594,977 (GRCm39)		probably null	Het
Rwdd2b	C	T	16: 87,233,558 (GRCm39)	A181T	probably benign	Het
Sh3pxd2b	GCCTGT	GCCTGTTCCTGT	11: 32,373,054 (GRCm39)		probably benign	Het
Six3	CGG	CGGTGG	17: 85,928,784 (GRCm39)		probably benign	Het
Sla	C	T	15: 66,654,593 (GRCm39)	G231D	probably benign	Het
Tcof1	CAG	CAGTAG	18: 60,968,807 (GRCm39)		probably benign	Het
Tfeb	GCA	GCAACA	17: 48,097,019 (GRCm39)		probably benign	Het
Tgm5	T	A	2: 120,902,092 (GRCm39)	E192D	probably damaging	Het
Tmem123	A	G	9: 7,791,414 (GRCm39)	Y171C	probably damaging	Het
Tnrc18	G	A	5: 142,759,385 (GRCm39)	A999V		Het
Triobp	C	T	15: 78,858,482 (GRCm39)	P1361L	probably benign	Het
Ubac1	A	T	2: 25,895,470 (GRCm39)	W328R	probably damaging	Het
Ube2q1	A	G	3: 89,688,200 (GRCm39)	N324S	probably benign	Het
Zcchc2	T	C	1: 105,939,472 (GRCm39)	I407T	possibly damaging	Het
Zfp384	GCCCAGGCCCAGGCCCAGGCCCAG	GCCCAGGCCCAGCCCCAGGCCCAGGCCCAGGCCCAG	6: 125,013,434 (GRCm39)		probably benign	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
R9633:Ms4a8a	UTSW	19	11,056,956 (GRCm39)	missense	probably benign	0.36
Z1176:Ms4a8a	UTSW	19	11,048,124 (GRCm39)	missense	possibly damaging	0.75

Predicted Primers

PCR Primer
(F):5'- CCAGGAGAAGATGGCTAGCT -3'
(R):5'- GCCAAAATGTAAGTGCTTGCTT -3'

Sequencing Primer
(F):5'- AGCACATTTCCACAGTTGGG -3'
(R):5'- CAAAATGTAAGTGCTTGCTTTCTGTG -3'

Posted On

2019-12-04