Mutagenetix > Incidental Mutation

Incidental Mutation 'R7253:Ms4a6b'

564112

Institutional Source

Beutler Lab

Gene Symbol

Ms4a6b

Ensembl Gene

ENSMUSG00000024677

Gene Name

membrane-spanning 4-domains, subfamily A, member 6B

Synonyms

MMRRC Submission

045314-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R7253 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

11495923-11507767 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 11497760 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Glycine at position 20 (S20G)

Ref Sequence

ENSEMBL: ENSMUSP00000025580 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000025580] [ENSMUST00000161157] [ENSMUST00000161283] [ENSMUST00000163078]

AlphaFold

Q99N09

Predicted Effect

probably benign
Transcript: ENSMUST00000025580
AA Change: S20G

PolyPhen 2 Score 0.262 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000025580
Gene: ENSMUSG00000024677
AA Change: S20G

Domain	Start	End	E-Value	Type
Pfam:CD20	47	204	2.8e-43	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000161157
AA Change: S20G

PolyPhen 2 Score 0.415 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000125519
Gene: ENSMUSG00000024677
AA Change: S20G

Domain	Start	End	E-Value	Type
Pfam:CD20	47	117	8e-20	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000161283

SMART Domains

Protein: ENSMUSP00000124277
Gene: ENSMUSG00000024677

Domain	Start	End	E-Value	Type
Pfam:CD20	1	69	9.2e-20	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000163078
AA Change: S20G

PolyPhen 2 Score 0.262 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000124685
Gene: ENSMUSG00000024677
AA Change: S20G

Domain	Start	End	E-Value	Type
Pfam:CD20	47	204	4.2e-41	PFAM

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.4%

Validation Efficiency

99% (74/75)

Allele List at MGI

Other mutations in this stock

Total: 76 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700009N14Rik	A	G	4: 39,451,391 (GRCm39)	H199R	not run	Het
Ak9	A	G	10: 41,308,480 (GRCm39)	N1804S	unknown	Het
Akr1c21	C	A	13: 4,627,139 (GRCm39)	T147N	probably damaging	Het
Aldh1a2	A	G	9: 71,123,216 (GRCm39)	T30A	probably benign	Het
Alox15	T	C	11: 70,236,724 (GRCm39)	D447G	probably damaging	Het
Amigo2	T	C	15: 97,142,956 (GRCm39)	I489V	probably benign	Het
Ano9	A	T	7: 140,687,350 (GRCm39)	Y322N	probably damaging	Het
Arhgap40	G	T	2: 158,389,576 (GRCm39)	W583L	probably benign	Het
Atxn2	A	G	5: 121,916,084 (GRCm39)	E430G	probably damaging	Het
Brip1	T	C	11: 86,034,104 (GRCm39)	Y539C	possibly damaging	Het
C87436	T	A	6: 86,442,790 (GRCm39)	L454Q	probably damaging	Het
Casp4	T	G	9: 5,324,868 (GRCm39)	Y227D	probably benign	Het
Ccn6	T	G	10: 39,031,031 (GRCm39)	N164T	probably benign	Het
Chd4	T	A	6: 125,083,555 (GRCm39)		probably null	Het
Chrna10	A	G	7: 101,761,293 (GRCm39)	C433R	probably benign	Het
Cntln	A	T	4: 85,036,710 (GRCm39)	N214I	probably damaging	Het
Colec12	G	A	18: 9,848,922 (GRCm39)	V367I	probably damaging	Het
Cyp46a1	T	C	12: 108,318,255 (GRCm39)	I222T	probably benign	Het
Dagla	A	T	19: 10,239,945 (GRCm39)		probably null	Het
Dcaf7	C	A	11: 105,938,669 (GRCm39)		probably null	Het
Dclk2	C	T	3: 86,700,566 (GRCm39)	R638H	probably damaging	Het
E2f7	A	G	10: 110,602,164 (GRCm39)		probably null	Het
Fam184a	G	T	10: 53,574,901 (GRCm39)	T236K	probably benign	Het
Glyctk	T	C	9: 106,032,661 (GRCm39)	T451A	probably damaging	Het
Hectd4	A	G	5: 121,452,944 (GRCm39)	K484E	possibly damaging	Het
Hspbap1	G	T	16: 35,637,600 (GRCm39)	C243F	unknown	Het
Hspg2	A	C	4: 137,247,257 (GRCm39)	N1160T	probably benign	Het
Ighv5-8	C	T	12: 113,618,728 (GRCm39)	L48F	probably benign	Het
Jazf1	C	A	6: 52,754,637 (GRCm39)	E146D	probably benign	Het
Katnb1	C	T	8: 95,822,125 (GRCm39)	Q284*	probably null	Het
Kctd18	G	T	1: 58,001,115 (GRCm39)	Y213*	probably null	Het
Klk1b26	T	C	7: 43,664,213 (GRCm39)	S23P	possibly damaging	Het
Krt88	T	C	15: 101,348,392 (GRCm39)	L26P	probably damaging	Het
Lrrc8b	G	A	5: 105,629,522 (GRCm39)	V623I	probably benign	Het
Map3k4	T	A	17: 12,490,955 (GRCm39)	M159L	probably benign	Het
Mast3	C	A	8: 71,242,326 (GRCm39)		probably null	Het
Mier1	G	A	4: 102,996,544 (GRCm39)		probably null	Het
Mrpl46	T	C	7: 78,431,207 (GRCm39)	D117G	probably damaging	Het
Mup10	A	T	4: 60,538,077 (GRCm39)	M4K	unknown	Het
Nlrp5	C	T	7: 23,116,816 (GRCm39)	A180V	possibly damaging	Het
Nlrx1	T	A	9: 44,176,001 (GRCm39)		probably null	Het
Odad3	T	C	9: 21,913,767 (GRCm39)	T2A	probably damaging	Het
Or2a52	T	C	6: 43,144,744 (GRCm39)	F251L	probably damaging	Het
Or2t45	T	C	11: 58,669,822 (GRCm39)	Y290H	probably damaging	Het
Or4c103	T	C	2: 88,513,969 (GRCm39)	T36A	possibly damaging	Het
Or51aa2	C	T	7: 103,187,995 (GRCm39)	A149T	probably benign	Het
Or5af2	T	A	11: 58,708,366 (GRCm39)	C177*	probably null	Het
Or5ak22	A	G	2: 85,229,983 (GRCm39)	I298T	probably benign	Het
Otud1	C	A	2: 19,663,742 (GRCm39)	D290E	probably damaging	Het
Pank4	A	G	4: 155,055,377 (GRCm39)	N249S	probably benign	Het
Pccb	G	T	9: 100,913,966 (GRCm39)	S84R	probably benign	Het
Pemt	A	T	11: 59,862,081 (GRCm39)	H194Q	possibly damaging	Het
Phtf2	A	G	5: 20,970,856 (GRCm39)	I634T	possibly damaging	Het
Pias2	T	G	18: 77,207,811 (GRCm39)	I232R	probably damaging	Het
Plce1	A	G	19: 38,686,952 (GRCm39)	E620G	probably damaging	Het
Pramel17	A	T	4: 101,692,725 (GRCm39)	V425E	probably benign	Het
Ptpn13	G	A	5: 103,713,150 (GRCm39)	E1758K	possibly damaging	Het
Ptprq	T	A	10: 107,444,134 (GRCm39)	Q1490L	probably benign	Het
Ptx3	G	T	3: 66,132,368 (GRCm39)	M296I	probably benign	Het
R3hdm2	C	T	10: 127,317,644 (GRCm39)	P464L	probably damaging	Het
Rapgef1	A	G	2: 29,589,733 (GRCm39)	E258G	possibly damaging	Het
Rgl2	T	C	17: 34,153,964 (GRCm39)	F457L	possibly damaging	Het
Rsf1	GGCGGCGGC	GGCGGCGGCCGCGGCGGC	7: 97,229,122 (GRCm39)		probably benign	Het
Senp8	T	C	9: 59,644,478 (GRCm39)	N226S	probably benign	Het
Six5	C	T	7: 18,828,901 (GRCm39)	R114C	probably damaging	Het
Slc10a1	T	C	12: 81,004,958 (GRCm39)	T195A	probably benign	Het
Slpi	G	T	2: 164,197,467 (GRCm39)	Q51K	probably benign	Het
Smarca4	T	C	9: 21,570,256 (GRCm39)	V753A	probably benign	Het
Tbc1d32	C	A	10: 56,074,537 (GRCm39)	M225I	probably benign	Het
Tent5a	C	A	9: 85,208,770 (GRCm39)	G18C	probably benign	Het
Tnfrsf21	G	A	17: 43,348,558 (GRCm39)	V57I	probably benign	Het
Trim44	G	T	2: 102,177,313 (GRCm39)	P336T	possibly damaging	Het
Txlnb	A	G	10: 17,703,633 (GRCm39)	I264V	probably damaging	Het
Xirp2	A	C	2: 67,343,826 (GRCm39)	E2022D	probably benign	Het
Zfp975	A	G	7: 42,311,036 (GRCm39)	*526R	probably null	Het
Zp1	A	G	19: 10,893,933 (GRCm39)	L424P	probably damaging	Het

Other mutations in Ms4a6b

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00336:Ms4a6b	APN	19	11,506,854 (GRCm39)	missense	possibly damaging	0.72
IGL01373:Ms4a6b	APN	19	11,506,871 (GRCm39)	missense	possibly damaging	0.71
IGL03258:Ms4a6b	APN	19	11,499,072 (GRCm39)	missense	probably damaging	1.00
R0443:Ms4a6b	UTSW	19	11,499,044 (GRCm39)	missense	possibly damaging	0.95
R0616:Ms4a6b	UTSW	19	11,504,262 (GRCm39)	critical splice donor site	probably null
R1649:Ms4a6b	UTSW	19	11,497,806 (GRCm39)	missense	possibly damaging	0.94
R1826:Ms4a6b	UTSW	19	11,501,298 (GRCm39)	missense	probably damaging	1.00
R3964:Ms4a6b	UTSW	19	11,499,098 (GRCm39)	missense	probably benign	0.01
R3966:Ms4a6b	UTSW	19	11,499,098 (GRCm39)	missense	probably benign	0.01
R5380:Ms4a6b	UTSW	19	11,499,044 (GRCm39)	missense	probably damaging	1.00
R5862:Ms4a6b	UTSW	19	11,499,167 (GRCm39)	missense	probably benign	0.13
R5922:Ms4a6b	UTSW	19	11,497,743 (GRCm39)	missense	possibly damaging	0.94
R6048:Ms4a6b	UTSW	19	11,497,734 (GRCm39)	missense	possibly damaging	0.62
R6120:Ms4a6b	UTSW	19	11,499,059 (GRCm39)	missense	probably benign	0.24
R6371:Ms4a6b	UTSW	19	11,497,728 (GRCm39)	missense	probably damaging	1.00
R7057:Ms4a6b	UTSW	19	11,504,253 (GRCm39)	missense	possibly damaging	0.79
R7516:Ms4a6b	UTSW	19	11,506,907 (GRCm39)	missense	probably benign
R7543:Ms4a6b	UTSW	19	11,499,155 (GRCm39)	missense	not run
R7645:Ms4a6b	UTSW	19	11,501,304 (GRCm39)	missense	probably damaging	1.00
R9687:Ms4a6b	UTSW	19	11,497,806 (GRCm39)	missense	possibly damaging	0.94
Z1176:Ms4a6b	UTSW	19	11,506,850 (GRCm39)	critical splice acceptor site	probably null
Z1177:Ms4a6b	UTSW	19	11,497,787 (GRCm39)	missense	probably benign	0.31

Predicted Primers

PCR Primer
(F):5'- GTGCTGTGTACTCTGATCATGC -3'
(R):5'- CTGTCAAAACTGAAGGCTCCC -3'

Sequencing Primer
(F):5'- TATCCAACACTATCCAACTTTGCATC -3'
(R):5'- CCCCACCCAAATTTATCTCTGG -3'

Posted On

2019-06-26