Mutagenetix > Incidental Mutation

Incidental Mutation 'R7091:Ms4a18'

550243

Institutional Source

Beutler Lab

Gene Symbol

Ms4a18

Ensembl Gene

ENSMUSG00000094584

Gene Name

membrane-spanning 4-domains, subfamily A, member 18

Synonyms

5033428B15Rik

MMRRC Submission

045185-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.061) question?

Stock #

R7091 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

10974388-10995390 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 10986092 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Methionine at position 206 (L206M)

Ref Sequence

ENSEMBL: ENSMUSP00000136529 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000177684]

AlphaFold

J3QN01

Predicted Effect

probably damaging
Transcript: ENSMUST00000177684
AA Change: L206M

PolyPhen 2 Score 0.983 (Sensitivity: 0.75; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000136529
Gene: ENSMUSG00000094584
AA Change: L206M

Domain	Start	End	E-Value	Type
Pfam:CD20	152	299	1.2e-18	PFAM
low complexity region	300	324	N/A	INTRINSIC

Meta Mutation Damage Score

0.6467

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.1%

Validation Efficiency

98% (56/57)

Allele List at MGI

Other mutations in this stock

Total: 58 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abhd18	A	C	3: 40,871,173 (GRCm39)	I111L	probably damaging	Het
Ank1	A	G	8: 23,548,679 (GRCm39)	D11G	probably benign	Het
Ank2	G	T	3: 126,817,000 (GRCm39)	Q472K	probably damaging	Het
Apbb2	A	T	5: 66,470,677 (GRCm39)	L520H	probably damaging	Het
Baat	T	C	4: 49,499,692 (GRCm39)	K205E	probably benign	Het
Brca1	T	A	11: 101,417,253 (GRCm39)	M294L	probably benign	Het
Capn1	A	G	19: 6,041,586 (GRCm39)	M641T	possibly damaging	Het
Cluap1	T	A	16: 3,758,670 (GRCm39)	D377E	probably benign	Het
Col6a2	C	T	10: 76,450,925 (GRCm39)	V39I	unknown	Het
Crybg3	T	A	16: 59,377,531 (GRCm39)	D1241V	possibly damaging	Het
Dnah10	A	G	5: 124,893,206 (GRCm39)	K3380R	probably benign	Het
Eml5	T	C	12: 98,768,733 (GRCm39)	I1400M	probably benign	Het
Fancd2	A	G	6: 113,522,062 (GRCm39)	D219G	probably damaging	Het
Fras1	A	G	5: 96,856,535 (GRCm39)	S1973G	probably benign	Het
Fsd1	G	A	17: 56,300,876 (GRCm39)	R245H	probably damaging	Het
G3bp1	T	A	11: 55,387,047 (GRCm39)	H271Q	possibly damaging	Het
Glce	A	G	9: 61,967,870 (GRCm39)	V427A	probably damaging	Het
Gm5141	T	C	13: 62,921,778 (GRCm39)	T464A	possibly damaging	Het
Gulp1	T	A	1: 44,805,294 (GRCm39)	F128I	probably damaging	Het
H2-T13	T	C	17: 36,394,833 (GRCm39)	E30G	possibly damaging	Het
Hcrtr1	A	C	4: 130,024,707 (GRCm39)	L393W	probably damaging	Het
Heg1	T	C	16: 33,547,090 (GRCm39)	S650P	probably benign	Het
Hspa4l	T	A	3: 40,736,024 (GRCm39)	N569K	probably benign	Het
Ifi206	A	G	1: 173,301,441 (GRCm39)	F746L	unknown	Het
Ivl	T	C	3: 92,479,549 (GRCm39)	D172G	possibly damaging	Het
Lrp5	A	T	19: 3,680,184 (GRCm39)	D433E	probably damaging	Het
Mgam	T	C	6: 40,745,210 (GRCm39)	S1826P	possibly damaging	Het
Msln	A	T	17: 25,969,054 (GRCm39)	C444S	probably damaging	Het
Mta1	A	G	12: 113,100,022 (GRCm39)	D644G	probably damaging	Het
Muc5ac	G	C	7: 141,363,424 (GRCm39)		probably benign	Het
Naa15	T	C	3: 51,366,177 (GRCm39)		probably null	Het
Nadk	A	G	4: 155,672,215 (GRCm39)	H302R	probably benign	Het
Neb	T	A	2: 52,146,124 (GRCm39)	N15I		Het
Nup153	A	T	13: 46,837,404 (GRCm39)	S1273T	probably benign	Het
Ofcc1	A	G	13: 40,226,243 (GRCm39)	I763T	probably damaging	Het
Or4b13	T	C	2: 90,082,807 (GRCm39)	Y175C	probably damaging	Het
Oxsr1	T	C	9: 119,113,727 (GRCm39)	I107V	probably benign	Het
Prmt5	A	G	14: 54,748,799 (GRCm39)		probably null	Het
Ptk2	G	A	15: 73,093,658 (GRCm39)	P854S	possibly damaging	Het
Ranbp6	A	G	19: 29,790,116 (GRCm39)	S79P	probably damaging	Het
Reln	T	C	5: 22,104,027 (GRCm39)	I3315V	probably null	Het
Rnf223	T	C	4: 156,217,156 (GRCm39)	V177A	probably benign	Het
Slc20a1	C	T	2: 129,050,192 (GRCm39)	T450M	possibly damaging	Het
Smg5	C	T	3: 88,258,654 (GRCm39)	P542S	probably benign	Het
Sorl1	T	A	9: 41,913,930 (GRCm39)	Q1333L	probably benign	Het
Spag5	T	A	11: 78,204,017 (GRCm39)		probably null	Het
Spopfm1	T	C	3: 94,173,945 (GRCm39)	F314L	probably damaging	Het
Tdp2	T	A	13: 25,022,207 (GRCm39)	F209I	probably damaging	Het
Tgm4	C	A	9: 122,869,525 (GRCm39)	L35M	probably damaging	Het
Tma7	A	G	9: 108,911,580 (GRCm39)		probably benign	Het
Tmprss4	A	T	9: 45,095,571 (GRCm39)	V91D	probably damaging	Het
Tnfsf4	T	A	1: 161,223,268 (GRCm39)	M39K	probably benign	Het
Ttn	T	A	2: 76,543,912 (GRCm39)	T33025S	probably benign	Het
Tut1	A	G	19: 8,943,175 (GRCm39)	H754R	probably benign	Het
Vmn2r27	T	G	6: 124,200,904 (GRCm39)	Q351P	possibly damaging	Het
Wee2	G	T	6: 40,438,936 (GRCm39)	G353V	probably benign	Het
Zfp747l1	C	A	7: 126,983,534 (GRCm39)	A523S	possibly damaging	Het
Zfp879	T	A	11: 50,724,222 (GRCm39)	H278L	probably damaging	Het

Other mutations in Ms4a18

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
R0556:Ms4a18	UTSW	19	10,991,065 (GRCm39)	missense	probably damaging	0.98
R1987:Ms4a18	UTSW	19	10,991,019 (GRCm39)	missense	probably damaging	1.00
R2031:Ms4a18	UTSW	19	10,991,014 (GRCm39)	missense	probably benign	0.06
R2137:Ms4a18	UTSW	19	10,974,695 (GRCm39)	missense	possibly damaging	0.86
R2138:Ms4a18	UTSW	19	10,974,695 (GRCm39)	missense	possibly damaging	0.86
R2139:Ms4a18	UTSW	19	10,974,695 (GRCm39)	missense	possibly damaging	0.86
R2192:Ms4a18	UTSW	19	10,991,029 (GRCm39)	missense	probably benign	0.09
R2211:Ms4a18	UTSW	19	10,974,669 (GRCm39)	missense	probably benign	0.33
R3739:Ms4a18	UTSW	19	10,988,863 (GRCm39)	missense	probably damaging	1.00
R5586:Ms4a18	UTSW	19	10,991,038 (GRCm39)	missense	probably benign	0.00
R6102:Ms4a18	UTSW	19	10,990,887 (GRCm39)	missense	probably benign
R7316:Ms4a18	UTSW	19	10,979,360 (GRCm39)	missense	probably damaging	1.00
R8162:Ms4a18	UTSW	19	10,991,071 (GRCm39)	missense	probably benign	0.00
R8854:Ms4a18	UTSW	19	10,990,887 (GRCm39)	missense	probably benign
R9098:Ms4a18	UTSW	19	10,990,741 (GRCm39)	missense
R9157:Ms4a18	UTSW	19	10,988,804 (GRCm39)	missense	probably damaging	0.98
R9313:Ms4a18	UTSW	19	10,988,804 (GRCm39)	missense	probably damaging	0.98
R9583:Ms4a18	UTSW	19	10,974,714 (GRCm39)	missense	probably benign

Predicted Primers

PCR Primer
(F):5'- GAAATGGACTCCCTAACTGCAC -3'
(R):5'- AGGGTATCCTGTATGGCATAAGGTAG -3'

Sequencing Primer
(F):5'- AAGTGTTTCCAGGCAGTCAC -3'
(R):5'- GCACACAGATTTACATGTCT -3'

Posted On

2019-05-15