Mutagenetix > Incidental Mutation

Incidental Mutation 'R9313:Ms4a18'

705752

Institutional Source

Beutler Lab

Gene Symbol

Ms4a18

Ensembl Gene

ENSMUSG00000094584

Gene Name

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

Synonyms

5033428B15Rik

MMRRC Submission

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.055) question?

Stock #

R9313 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

10997025-11018031 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 11011440 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Glutamine at position 184 (L184Q)

Ref Sequence

ENSEMBL: ENSMUSP00000136529 (fasta)

Gene Model

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

AlphaFold

J3QN01

Predicted Effect

probably damaging
Transcript: ENSMUST00000177684
AA Change: L184Q

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

SMART Domains

Protein: ENSMUSP00000136529
Gene: ENSMUSG00000094584
AA Change: L184Q

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.1%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 66 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700006A11Rik	T	C	3: 124,413,571	T324A	probably benign	Het
4930452B06Rik	T	A	14: 8,518,635	T274S	probably benign	Het
Aadat	G	A	8: 60,526,601	V166I	probably benign	Het
Abca17	C	T	17: 24,346,233	S75N	probably benign	Het
Adgrb1	A	G	15: 74,539,775	T376A	probably damaging	Het
Atp5o	CTTTGACG	C	16: 91,926,916		probably null	Het
Atp5o	TTTGACGGT	TT	16: 91,926,917		probably null	Het
Car9	A	G	4: 43,507,180	E42G	probably benign	Het
Cep41	T	C	6: 30,680,346	K9R	probably null	Het
Ckm	A	G	7: 19,415,473	T141A	probably benign	Het
Clcc1	G	T	3: 108,674,660	R360S	probably benign	Het
Clcn3	A	C	8: 60,937,469	I146R	probably damaging	Het
Crlf1	A	G	8: 70,498,816	D115G	probably damaging	Het
Dnah1	T	A	14: 31,266,013	I3483F	probably damaging	Het
Dopey1	T	C	9: 86,524,588	*386Q	probably null	Het
Eftud2	A	G	11: 102,839,436	V899A	probably benign	Het
Ephx3	C	G	17: 32,189,316	D45H	probably benign	Het
Faap100	A	G	11: 120,376,862	S362P	probably damaging	Het
Fdps	A	T	3: 89,099,348	D78E	probably benign	Het
Fsd1l	T	G	4: 53,694,760	W405G	probably damaging	Het
Fsd1l	T	C	4: 53,701,093	V485A	possibly damaging	Het
Gm12887	C	T	4: 121,616,504	V50M	probably benign	Het
Gm16486	G	A	8: 70,708,704	G182D	probably damaging	Het
Gm45785	T	C	7: 140,818,703	I94V	unknown	Het
Gm8251	A	G	1: 44,057,360	V1526A	probably benign	Het
Hcls1	C	T	16: 36,956,638	A230V	probably benign	Het
Hmcn1	A	C	1: 150,646,592	V3519G	probably benign	Het
Hmgcs1	A	G	13: 119,704,427	Y360C	probably benign	Het
Hsd17b13	A	G	5: 103,965,773		probably null	Het
Ift57	T	A	16: 49,736,722	D235E	possibly damaging	Het
Iltifb	A	G	10: 118,294,233	C89R	probably damaging	Het
Krt9	T	A	11: 100,188,721	Y615F	unknown	Het
Ltbp2	G	A	12: 84,791,090	P1192L	probably benign	Het
Marco	T	C	1: 120,494,085	E130G	probably damaging	Het
Mtus1	A	T	8: 41,082,886	S598T	probably damaging	Het
Nbeal2	C	A	9: 110,634,368	R1265L	probably damaging	Het
Odf2	G	T	2: 29,926,803	G754C	probably benign	Het
Olfr1131	T	C	2: 87,628,732	S90P	probably benign	Het
Olfr1274-ps	C	A	2: 90,401,573	T304K	probably benign	Het
Olfr164	T	G	16: 19,286,350	Y131S	probably benign	Het
Olfr810	A	T	10: 129,790,920	I223N	probably damaging	Het
Paqr8	G	A	1: 20,934,904	W94*	probably null	Het
Pkd1	G	A	17: 24,594,958	G4132D	probably damaging	Het
Pom121l2	A	G	13: 21,984,336	M926V	probably benign	Het
Postn	A	T	3: 54,365,915	Y79F	probably damaging	Het
Prl7d1	T	C	13: 27,709,199	E242G	probably benign	Het
Rcor3	G	T	1: 192,125,881	H165Q	possibly damaging	Het
Rnf157	A	G	11: 116,359,892	V161A	probably damaging	Het
Rnf38	G	A	4: 44,143,584	T150M	probably damaging	Het
Scn4b	T	A	9: 45,146,715	V35E	probably damaging	Het
Serpina3i	T	C	12: 104,265,413	I103T	probably damaging	Het
Shcbp1	T	A	8: 4,744,518	D425V	probably damaging	Het
Sidt2	T	C	9: 45,941,360	T776A	possibly damaging	Het
Siglecg	A	G	7: 43,412,432	D534G	probably benign	Het
Sipa1l3	T	A	7: 29,378,014	T778S	probably benign	Het
Slc13a1	A	G	6: 24,108,204	V291A	probably benign	Het
Stra6l	A	G	4: 45,881,454	I439V	probably benign	Het
Tdrd7	G	A	4: 46,005,319	S375N	probably benign	Het
Vmn1r192	T	A	13: 22,188,021	I10L	probably benign	Het
Vmn2r34	T	G	7: 7,683,818	L293F	possibly damaging	Het
Xirp2	G	T	2: 67,516,978	A3188S	probably damaging	Het
Zcchc6	A	T	13: 59,799,984	M841K	probably benign	Het
Zfp219	A	G	14: 52,008,743	V309A	probably damaging	Het
Zfp341	C	A	2: 154,627,987	P197T	probably damaging	Het
Zfp628	G	A	7: 4,919,550	R257H	probably benign	Het
Zfp644	T	G	5: 106,636,458	Y741S	probably benign	Het

Other mutations in Ms4a18

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
R0556:Ms4a18	UTSW	19	11013701	missense	probably damaging	0.98
R1987:Ms4a18	UTSW	19	11013655	missense	probably damaging	1.00
R2031:Ms4a18	UTSW	19	11013650	missense	probably benign	0.06
R2137:Ms4a18	UTSW	19	10997331	missense	possibly damaging	0.86
R2138:Ms4a18	UTSW	19	10997331	missense	possibly damaging	0.86
R2139:Ms4a18	UTSW	19	10997331	missense	possibly damaging	0.86
R2192:Ms4a18	UTSW	19	11013665	missense	probably benign	0.09
R2211:Ms4a18	UTSW	19	10997305	missense	probably benign	0.33
R3739:Ms4a18	UTSW	19	11011499	missense	probably damaging	1.00
R5586:Ms4a18	UTSW	19	11013674	missense	probably benign	0.00
R6102:Ms4a18	UTSW	19	11013523	missense	probably benign
R7091:Ms4a18	UTSW	19	11008728	missense	probably damaging	0.98
R7316:Ms4a18	UTSW	19	11001996	missense	probably damaging	1.00
R8162:Ms4a18	UTSW	19	11013707	missense	probably benign	0.00
R8854:Ms4a18	UTSW	19	11013523	missense	probably benign
R9098:Ms4a18	UTSW	19	11013377	missense
R9157:Ms4a18	UTSW	19	11011440	missense	probably damaging	0.98
R9583:Ms4a18	UTSW	19	10997350	missense	probably benign

Predicted Primers

PCR Primer
(F):5'- CAGTGTTGTCAAGGCAGGAG -3'
(R):5'- TCATACCTCAAGTGGCTCTGG -3'

Sequencing Primer
(F):5'- AGTATAGGTGAGTCCCCCAG -3'
(R):5'- CTGGAGCACAGCCAAGGTG -3'

Posted On

2022-03-25