Mutagenetix > Incidental Mutation

Incidental Mutation 'R9519:Ms4a13'

718791

Institutional Source

Beutler Lab

Gene Symbol

Ms4a13

Ensembl Gene

ENSMUSG00000057240

Gene Name

membrane-spanning 4-domains, subfamily A, member 13

Synonyms

1700060E18Rik

MMRRC Submission

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.047) question?

Stock #

R9519 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

11169418-11196737 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to G at 11169968 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Serine to Threonine at position 194 (S194T)

Ref Sequence

ENSEMBL: ENSMUSP00000073095 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000073380] [ENSMUST00000078770] [ENSMUST00000180678] [ENSMUST00000181567] [ENSMUST00000188464]

AlphaFold

Q5FWC3

Predicted Effect

unknown
Transcript: ENSMUST00000073380
AA Change: S194T

SMART Domains

Protein: ENSMUSP00000073095
Gene: ENSMUSG00000057240
AA Change: S194T

Domain	Start	End	E-Value	Type
Pfam:CD20	15	137	6.3e-10	PFAM
transmembrane domain	139	161	N/A	INTRINSIC
low complexity region	189	200	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000078770

SMART Domains

Protein: ENSMUSP00000077828
Gene: ENSMUSG00000024728

Domain	Start	End	E-Value	Type
Pfam:CD20	17	101	1.2e-8	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000180678

SMART Domains

Protein: ENSMUSP00000137968
Gene: ENSMUSG00000024728

Domain	Start	End	E-Value	Type
transmembrane domain	5	25	N/A	INTRINSIC
transmembrane domain	40	62	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000181567

SMART Domains

Protein: ENSMUSP00000137806
Gene: ENSMUSG00000024728

Domain	Start	End	E-Value	Type
transmembrane domain	5	25	N/A	INTRINSIC
transmembrane domain	40	62	N/A	INTRINSIC

Predicted Effect

unknown
Transcript: ENSMUST00000188464
AA Change: S165T

SMART Domains

Protein: ENSMUSP00000140293
Gene: ENSMUSG00000057240
AA Change: S165T

Domain	Start	End	E-Value	Type
Pfam:CD20	15	152	2.1e-24	PFAM
low complexity region	160	171	N/A	INTRINSIC

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.0%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 54 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aasdh	T	C	5: 76,882,725	E676G	probably benign	Het
Aatk	G	A	11: 120,021,483		probably benign	Het
Abcc1	T	C	16: 14,389,817	V20A	probably benign	Het
Abcc3	A	G	11: 94,373,979	V181A	possibly damaging	Het
Alkbh2	T	C	5: 114,127,733	K3E	probably benign	Het
Aox2	A	C	1: 58,334,767	K862N	probably damaging	Het
Arap1	G	A	7: 101,394,739		probably benign	Het
Arid2	A	G	15: 96,289,067	N67D	possibly damaging	Het
Atxn1l	C	T	8: 109,732,056	V525M	probably damaging	Het
Bcan	C	G	3: 87,995,657	E271D	probably damaging	Het
Bcan	C	A	3: 87,995,660	E270D	probably damaging	Het
Bcan	T	C	3: 87,995,661	E270G	probably benign	Het
Cadps	T	C	14: 12,546,290	H522R	possibly damaging	Het
Dll3	A	G	7: 28,296,339	S346P	probably damaging	Het
Epha3	T	A	16: 63,652,305	T406S	possibly damaging	Het
Far1	A	G	7: 113,551,352	R296G	probably benign	Het
Flot1	T	G	17: 35,825,471	V172G	possibly damaging	Het
Gm973	A	G	1: 59,541,452	M165V	probably benign	Het
Golm1	T	C	13: 59,645,100	H197R	probably benign	Het
Gpr85	T	C	6: 13,836,999		probably benign	Het
Herc1	A	G	9: 66,400,074	K1017E	probably damaging	Het
Inpp5f	A	C	7: 128,676,791	D435A	possibly damaging	Het
Jmjd1c	A	G	10: 67,158,019	D93G	possibly damaging	Het
Kcnn4	T	A	7: 24,382,516	V363E	probably damaging	Het
Kif9	A	G	9: 110,521,276	D745G	probably damaging	Het
Lipm	T	C	19: 34,112,992	M191T	probably benign	Het
Ltbp1	C	T	17: 75,385,195	R1603C	probably damaging	Het
Muc16	A	T	9: 18,586,920	I6577N	probably benign	Het
Nfatc2	T	C	2: 168,570,758	T336A	probably benign	Het
Nlrp9c	T	A	7: 26,385,877	K92N	possibly damaging	Het
Olfr404-ps1	A	T	11: 74,240,001	T146S	probably benign	Het
Olfr642	C	A	7: 104,049,429	M308I	probably benign	Het
Parp16	T	A	9: 65,229,940	Y149*	probably null	Het
Pdgfra	A	T	5: 75,176,689	T463S	probably benign	Het
Peg3	T	C	7: 6,711,395	E276G	probably benign	Het
Prom1	A	G	5: 44,056,061	V110A	possibly damaging	Het
Ptprq	T	C	10: 107,685,100	Y737C	probably damaging	Het
Rsf1	G	GACGGCGGCC	7: 97,579,909		probably benign	Het
Sds	T	A	5: 120,481,545	L173Q	probably damaging	Het
Shank1	G	A	7: 44,312,918	S71N	unknown	Het
Slc8a3	A	T	12: 81,315,552	D164E	probably benign	Het
Slc9c1	A	T	16: 45,575,407	N607I	probably damaging	Het
Smarce1	A	T	11: 99,214,107	I248K	probably benign	Het
Smg7	G	T	1: 152,859,445	T213K	probably damaging	Het
Snrnp70	C	T	7: 45,387,451	D90N	probably benign	Het
Snx20	A	G	8: 88,627,772	V110A	possibly damaging	Het
Snx25	A	G	8: 46,033,746	V986A	probably damaging	Het
Soat1	T	C	1: 156,432,209	K521E	probably benign	Het
Speg	C	T	1: 75,415,736	T1679M	probably damaging	Het
Stoml3	T	A	3: 53,497,981	F28I	probably benign	Het
Sult1d1	A	T	5: 87,556,862	M256K	probably damaging	Het
Tiam1	T	C	16: 89,811,934	E1064G	probably benign	Het
Vwa1	G	A	4: 155,772,879	P154L	probably damaging	Het
Zfp790	C	A	7: 29,823,142	H3N	unknown	Het

Other mutations in Ms4a13

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00789:Ms4a13	APN	19	11185114	missense	probably damaging	1.00
IGL02458:Ms4a13	APN	19	11171928	missense	probably benign
IGL03259:Ms4a13	APN	19	11183846	missense	probably damaging	0.99
R0465:Ms4a13	UTSW	19	11172593	missense	probably benign	0.42
R0539:Ms4a13	UTSW	19	11171871	intron	probably benign
R1327:Ms4a13	UTSW	19	11183887	missense	probably damaging	1.00
R1500:Ms4a13	UTSW	19	11183861	missense	probably damaging	1.00
R5859:Ms4a13	UTSW	19	11183916	nonsense	probably null
R5888:Ms4a13	UTSW	19	11191506	missense	probably benign	0.01
R5940:Ms4a13	UTSW	19	11192966	missense	possibly damaging	0.83
R6568:Ms4a13	UTSW	19	11191559	missense	probably damaging	1.00
R6597:Ms4a13	UTSW	19	11192939	missense	probably benign
R6678:Ms4a13	UTSW	19	11183858	missense	probably benign	0.34
R6919:Ms4a13	UTSW	19	11171885	missense	probably benign	0.00
R7596:Ms4a13	UTSW	19	11169965	missense	unknown
R8797:Ms4a13	UTSW	19	11183836	missense	probably benign	0.00
R9060:Ms4a13	UTSW	19	11191586	missense
R9545:Ms4a13	UTSW	19	11169968	missense	unknown
Z1177:Ms4a13	UTSW	19	11172584	missense	probably benign	0.09

Predicted Primers

PCR Primer
(F):5'- TGTAGACACTCCCTAAATACCAAGG -3'
(R):5'- ATCACGAGTCATGCAGTAGAGAC -3'

Sequencing Primer
(F):5'- CCAAGGGATAACTTTCACCTTGTTG -3'
(R):5'- TAAGGTAGACTGGATTGAGAAAGG -3'

Posted On

2022-07-18