Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL03148:Mcemp1'

410991

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Mcemp1

Ensembl Gene

ENSMUSG00000013974

Gene Name

mast cell expressed membrane protein 1

Synonyms

1810033B17Rik

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.075) question?

Stock #

IGL03148

Quality Score

Status

Chromosome

Chromosomal Location

3715754-3718916 bp(+) (GRCm39)

Type of Mutation

splice site

DNA Base Change (assembly)

T to A at 3717390 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000014118 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000014118] [ENSMUST00000159364]

AlphaFold

Q9D8U6

Predicted Effect

probably null
Transcript: ENSMUST00000014118

SMART Domains

Protein: ENSMUSP00000014118
Gene: ENSMUSG00000013974

Domain	Start	End	E-Value	Type
transmembrane domain	68	90	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000159364

Coding Region Coverage

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a single-pass transmembrane protein. Based on its expression pattern, it is speculated to be involved in regulating mast cell differentiation or immune responses. [provided by RefSeq, Jul 2008]

Allele List at MGI

Other mutations in this stock

Total: 31 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2300003K06Rik	A	G	11: 99,728,079 (GRCm39)	S255P	unknown	Het
Adamtsl2	T	A	2: 26,974,071 (GRCm39)	Y125N	probably damaging	Het
Ankrd9	T	C	12: 110,943,293 (GRCm39)	E214G	probably benign	Het
Bhmt2	T	A	13: 93,803,161 (GRCm39)	D124V	possibly damaging	Het
Ccdc150	A	G	1: 54,317,874 (GRCm39)	H271R	possibly damaging	Het
Clcn1	T	G	6: 42,276,925 (GRCm39)		probably null	Het
Col6a3	T	A	1: 90,755,588 (GRCm39)	I234F	probably benign	Het
Cpa5	T	A	6: 30,630,436 (GRCm39)	M330K	probably damaging	Het
Csmd2	G	A	4: 128,278,062 (GRCm39)	C995Y	probably damaging	Het
D630003M21Rik	T	C	2: 158,059,144 (GRCm39)	E252G	probably damaging	Het
Dhrs1	A	T	14: 55,978,748 (GRCm39)	Y133*	probably null	Het
Dnaaf10	G	A	11: 17,179,845 (GRCm39)	G282E	probably damaging	Het
Dock10	T	C	1: 80,518,075 (GRCm39)	I1300V	probably benign	Het
Efcab12	T	C	6: 115,787,952 (GRCm39)	Y670C	probably damaging	Het
Frg1	T	G	8: 41,864,321 (GRCm39)	K66N	probably benign	Het
Gbp2b	C	A	3: 142,312,642 (GRCm39)	H342N	probably benign	Het
Gria4	T	A	9: 4,464,295 (GRCm39)	I556F	possibly damaging	Het
Kcnh1	T	G	1: 191,959,307 (GRCm39)	I287S	probably damaging	Het
Map1b	A	G	13: 99,578,203 (GRCm39)	L150P	probably damaging	Het
Map3k4	C	T	17: 12,457,045 (GRCm39)	R1299Q	probably benign	Het
Mapk10	T	C	5: 103,073,971 (GRCm39)	N407D	probably damaging	Het
Nav1	A	C	1: 135,397,762 (GRCm39)	N802K	possibly damaging	Het
Pcdhb2	T	A	18: 37,429,831 (GRCm39)	N601K	probably damaging	Het
Pi4ka	T	A	16: 17,172,053 (GRCm39)	H564L	probably damaging	Het
Pnp	T	A	14: 51,188,185 (GRCm39)		probably benign	Het
Ppp2r2a	G	T	14: 67,259,744 (GRCm39)	N317K	probably benign	Het
Pramel47	A	G	5: 95,489,177 (GRCm39)	T207A	possibly damaging	Het
Rars2	A	T	4: 34,650,243 (GRCm39)	I343F	possibly damaging	Het
Rnf213	T	C	11: 119,355,833 (GRCm39)	F4092S	probably damaging	Het
Tcp11	A	G	17: 28,289,444 (GRCm39)	V209A	possibly damaging	Het
Tet2	T	C	3: 133,187,124 (GRCm39)	S1102G	probably benign	Het

Other mutations in Mcemp1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL03037:Mcemp1	APN	8	3,717,055 (GRCm39)	nonsense	probably null
PIT4418001:Mcemp1	UTSW	8	3,717,052 (GRCm39)	missense	probably null	1.00
R0109:Mcemp1	UTSW	8	3,717,055 (GRCm39)	nonsense	probably null
R0196:Mcemp1	UTSW	8	3,718,201 (GRCm39)	missense	probably benign	0.34
R0487:Mcemp1	UTSW	8	3,717,507 (GRCm39)	missense	probably benign
R1744:Mcemp1	UTSW	8	3,716,054 (GRCm39)	missense	probably damaging	0.97
R4573:Mcemp1	UTSW	8	3,715,835 (GRCm39)	splice site	probably null
R5549:Mcemp1	UTSW	8	3,718,340 (GRCm39)	missense	possibly damaging	0.66
R6317:Mcemp1	UTSW	8	3,717,284 (GRCm39)	nonsense	probably null
R7462:Mcemp1	UTSW	8	3,717,065 (GRCm39)	missense	probably benign	0.10
R8356:Mcemp1	UTSW	8	3,717,542 (GRCm39)	missense	probably damaging	0.99
R9220:Mcemp1	UTSW	8	3,717,512 (GRCm39)	missense	probably benign	0.07

Posted On

2016-08-02