Mutagenetix > Incidental Mutations

Incidental Mutation 'R7596:Ms4a13'

587754

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

Is this an essential gene?

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

Stock #

R7596 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

11169418-11196737 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 11169965 bp

Zygosity

Heterozygous

Amino Acid Change

Valine to Aspartic acid at position 195 (V195D)

Ref Sequence

ENSEMBL: ENSMUSP00000073095 (fasta)

Gene Model

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

Predicted Effect

unknown
Transcript: ENSMUST00000073380
AA Change: V195D

SMART Domains

Protein: ENSMUSP00000073095
Gene: ENSMUSG00000057240
AA Change: V195D

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: V166D

SMART Domains

Protein: ENSMUSP00000140293
Gene: ENSMUSG00000057240
AA Change: V166D

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: 98.9%

Validation Efficiency

95% (53/56)

Allele List at MGI

Other mutations in this stock

Total: 56 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2310034C09Rik	G	A	16: 88,759,336	S146N	probably damaging	Het
Adam26b	A	C	8: 43,520,200	D588E	probably benign	Het
Ankrd13b	C	A	11: 77,472,314	R547L	probably benign	Het
Bckdk	G	T	7: 127,906,400	E232*	probably null	Het
C8a	T	C	4: 104,853,867	K244E	possibly damaging	Het
Cad	A	G	5: 31,069,048	I1145V	probably benign	Het
Cd28	C	A	1: 60,763,328	H135Q	possibly damaging	Het
Ceacam19	A	G	7: 19,881,887	I209T	possibly damaging	Het
Cecr2	A	G	6: 120,762,206	N1298S	probably benign	Het
Cpne5	C	T	17: 29,226,217	D38N	possibly damaging	Het
Dcn	A	T	10: 97,510,009	I228F	probably damaging	Het
Gm10696	T	A	3: 94,176,430	T25S	probably benign	Het
Gm5591	T	G	7: 38,520,184	I422L	probably benign	Het
Gnptab	T	G	10: 88,443,370	F1201V	probably damaging	Het
Hc	A	G	2: 35,000,847	V1319A	probably damaging	Het
Htr3b	T	C	9: 48,936,061	N385D	probably benign	Het
Ikbip	A	T	10: 91,083,029		probably benign	Het
Kcnk1	T	C	8: 125,995,611	L51P	probably damaging	Het
Lcn2	A	G	2: 32,385,709	Y160H	probably damaging	Het
Lig1	T	C	7: 13,305,998	S712P	probably damaging	Het
Lrrc19	T	G	4: 94,643,355	M7L	probably benign	Het
Lrrc4b	C	T	7: 44,461,886	T394M	probably damaging	Het
Map7	A	G	10: 20,278,181	N681S	unknown	Het
Mdga2	A	T	12: 66,506,123	M912K	probably damaging	Het
Mlst8	C	T	17: 24,478,110		probably null	Het
Muc4	C	G	16: 32,753,930	Q1269E	probably benign	Het
Nr4a2	G	C	2: 57,108,231	F574L	probably damaging	Het
Nup107	T	C	10: 117,777,160	N288D	probably damaging	Het
Olfr1469	C	T	19: 13,411,147	H193Y	probably benign	Het
Olfr211	T	A	6: 116,494,197	V196D	probably benign	Het
Olfr742	A	T	14: 50,515,545	T114S	probably benign	Het
Pcolce	A	G	5: 137,606,825		probably null	Het
Pik3cg	A	G	12: 32,204,741	F416L	probably damaging	Het
Podnl1	A	G	8: 84,126,395	I65V		Het
Prpf8	T	C	11: 75,491,504	F387S	probably benign	Het
Rev3l	A	G	10: 39,821,538	Y677C	probably damaging	Het
Rhpn1	A	G	15: 75,712,313	T430A	probably benign	Het
Rnf187	T	C	11: 58,938,415	R124G	possibly damaging	Het
Rpl9-ps6	C	T	19: 32,466,383	V57I	probably benign	Het
Samhd1	A	T	2: 157,101,834	F587I	probably damaging	Het
Slc30a6	A	G	17: 74,415,669	T244A	probably benign	Het
Slc35f4	T	A	14: 49,306,209	Y310F	probably damaging	Het
Smarcc2	A	G	10: 128,482,793	Y648C	probably damaging	Het
Smc5	A	C	19: 23,214,169	V889G	probably damaging	Het
Sp110	G	A	1: 85,579,092	R417C		Het
Tango2	A	G	16: 18,302,710	V229A	probably damaging	Het
Tnks1bp1	A	G	2: 85,062,713	T995A	probably benign	Het
Trio	A	T	15: 27,749,826	I2263N	probably damaging	Het
Ttc28	T	C	5: 111,280,124	F1829L	probably damaging	Het
Ttn	A	G	2: 76,808,579	S13920P	probably damaging	Het
Ube2b	T	C	11: 51,986,743	N133S	probably damaging	Het
Ubn1	T	A	16: 5,081,558	H1055Q	probably benign	Het
Ubtf	G	A	11: 102,306,707	T705M	unknown	Het
Vmn2r109	A	T	17: 20,540,680	M805K	probably damaging	Het
Vsig10	T	C	5: 117,334,783	V147A	possibly damaging	Het
Zbtb16	C	A	9: 48,832,404	V203L	possibly damaging	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
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

2019-10-24