Mutagenetix > Incidental Mutation

Incidental Mutation 'R5227:Ms4a8a'

402710

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

042800-MU

Accession Numbers

Essential gene?

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

Stock #

R5227 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

11044835-11058466 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 11045780 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Threonine at position 243 (S243T)

Ref Sequence

ENSEMBL: ENSMUSP00000025636 (fasta)

Gene Model

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

AlphaFold

Q99N10

Predicted Effect

probably damaging
Transcript: ENSMUST00000025636
AA Change: S243T

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000025636
Gene: ENSMUSG00000024730
AA Change: S243T

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: 99.5%
3x: 99.0%
10x: 98.2%
20x: 97.2%

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: 55 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcg8	T	C	17: 84,999,249 (GRCm39)	L115P	probably damaging	Het
Adgrb3	A	C	1: 25,133,033 (GRCm39)	M481R	possibly damaging	Het
Adgrd1	C	A	5: 129,199,647 (GRCm39)	N161K	probably benign	Het
Alx4	T	A	2: 93,507,725 (GRCm39)	V340D	probably damaging	Het
Arid1a	A	G	4: 133,407,716 (GRCm39)	S2264P	unknown	Het
Azi2	A	T	9: 117,876,526 (GRCm39)	H14L	probably damaging	Het
Camsap2	A	G	1: 136,202,629 (GRCm39)		probably benign	Het
Ccpg1	T	A	9: 72,919,354 (GRCm39)	L323*	probably null	Het
Cpsf1	A	T	15: 76,483,148 (GRCm39)	I943N	probably damaging	Het
Crebrf	T	A	17: 26,978,739 (GRCm39)	Y476N	probably damaging	Het
Defb10	T	A	8: 22,351,894 (GRCm39)	Y46*	probably null	Het
Dock3	A	G	9: 106,863,269 (GRCm39)	L703P	probably damaging	Het
Ebf2	A	T	14: 67,484,518 (GRCm39)	I181F	probably damaging	Het
Eif3e	T	A	15: 43,114,917 (GRCm39)	M420L	probably benign	Het
Emilin3	T	A	2: 160,751,185 (GRCm39)	Q188L	probably damaging	Het
Fbxl4	C	T	4: 22,376,840 (GRCm39)	T92M	probably damaging	Het
Fer1l6	C	T	15: 58,453,752 (GRCm39)	Q687*	probably null	Het
Fkrp	T	C	7: 16,544,635 (GRCm39)	E409G	possibly damaging	Het
Fzd9	T	C	5: 135,278,460 (GRCm39)	D475G	probably benign	Het
Gabbr1	C	T	17: 37,380,958 (GRCm39)	T767I	possibly damaging	Het
Gdf2	G	A	14: 33,663,451 (GRCm39)		probably null	Het
Gpatch1	T	C	7: 35,008,776 (GRCm39)	N82D	probably benign	Het
Heg1	T	A	16: 33,583,961 (GRCm39)	L1256Q	probably damaging	Het
Ireb2	T	A	9: 54,803,885 (GRCm39)		probably null	Het
Kansl1	T	G	11: 104,247,640 (GRCm39)	H570P	probably benign	Het
Kcna10	T	G	3: 107,101,744 (GRCm39)	M125R	probably damaging	Het
Lrp1b	T	G	2: 40,741,805 (GRCm39)	I3041L	possibly damaging	Het
Mbtd1	T	C	11: 93,815,474 (GRCm39)	F354S	possibly damaging	Het
Mideas	A	T	12: 84,199,661 (GRCm39)	F1020I	probably benign	Het
Mov10	T	C	3: 104,709,894 (GRCm39)	T331A	probably benign	Het
Ndufa11	T	C	17: 57,024,867 (GRCm39)	S10P	probably benign	Het
Olfml3	A	G	3: 103,643,737 (GRCm39)	Y215H	possibly damaging	Het
Or2t45	T	A	11: 58,669,705 (GRCm39)	F251I	possibly damaging	Het
Or56b2j	A	G	7: 104,353,529 (GRCm39)	I252V	possibly damaging	Het
Pclo	T	C	5: 14,763,574 (GRCm39)	S4016P	probably benign	Het
Pcyox1	G	C	6: 86,368,726 (GRCm39)	A264G	probably damaging	Het
Pdzrn3	C	T	6: 101,130,272 (GRCm39)	D515N	probably damaging	Het
Pnisr	A	G	4: 21,874,587 (GRCm39)		probably benign	Het
Prc1	T	C	7: 79,962,927 (GRCm39)	S574P	probably damaging	Het
Ranbp3l	T	A	15: 9,037,186 (GRCm39)	V16D	probably damaging	Het
Rfx1	T	C	8: 84,800,687 (GRCm39)	V96A	probably damaging	Het
Rufy4	T	C	1: 74,186,822 (GRCm39)	C537R	probably damaging	Het
Sfmbt1	T	C	14: 30,537,211 (GRCm39)		probably null	Het
Siglecf	T	C	7: 43,001,364 (GRCm39)	Y111H	probably damaging	Het
Snx14	G	A	9: 88,280,347 (GRCm39)	T536I	possibly damaging	Het
Spindoc	A	G	19: 7,351,512 (GRCm39)	V204A	probably benign	Het
Sptbn5	A	G	2: 119,915,812 (GRCm39)		probably benign	Het
Swt1	G	A	1: 151,278,727 (GRCm39)	Q227*	probably null	Het
Tg	A	G	15: 66,631,416 (GRCm39)	I562V	possibly damaging	Het
Trip11	T	A	12: 101,851,179 (GRCm39)	I677F	probably damaging	Het
Vmn1r49	G	A	6: 90,049,753 (GRCm39)	T83I	probably benign	Het
Vmn1r90	T	C	7: 14,295,601 (GRCm39)	K166E	possibly damaging	Het
Vmn2r124	T	C	17: 18,269,819 (GRCm39)	I25T	possibly damaging	Het
Vps13d	A	T	4: 144,907,777 (GRCm39)		probably null	Het
Zfp106	T	C	2: 120,354,449 (GRCm39)	I170V	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
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
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'- ACTAAGGTACCCCAGTAATAAAGGC -3'
(R):5'- GAGACATTTGCCCCATAAGGTTC -3'

Sequencing Primer
(F):5'- GGCTCATTAAAGACAAACACTGAGGC -3'
(R):5'- ATTTGCCCCATAAGGTTCAGGGAG -3'

Posted On

2016-07-22