Mutagenetix > Incidental Mutation

Incidental Mutation 'R7462:Mcemp1'

578505

Institutional Source

Beutler Lab

Gene Symbol

Mcemp1

Ensembl Gene

ENSMUSG00000013974

Gene Name

mast cell expressed membrane protein 1

Synonyms

1810033B17Rik

MMRRC Submission

045536-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.082) question?

Stock #

R7462 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

3715754-3718916 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 3717065 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Leucine at position 69 (M69L)

Ref Sequence

ENSEMBL: ENSMUSP00000014118 (fasta)

Gene Model

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

AlphaFold

Q9D8U6

Predicted Effect

probably benign
Transcript: ENSMUST00000014118
AA Change: M69L

PolyPhen 2 Score 0.104 (Sensitivity: 0.93; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000014118
Gene: ENSMUSG00000013974
AA Change: M69L

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

Predicted Effect

probably benign
Transcript: ENSMUST00000159364

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.2%

Validation Efficiency

98% (60/61)

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: 60 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ank2	G	C	3: 126,736,683 (GRCm39)	T3067S	unknown	Het
Ankrd28	T	C	14: 31,500,886 (GRCm39)	N35S	probably benign	Het
Bicra	A	T	7: 15,713,060 (GRCm39)	S996T	possibly damaging	Het
Btbd7	T	C	12: 102,803,981 (GRCm39)	E353G	possibly damaging	Het
Cdhr2	A	T	13: 54,874,552 (GRCm39)	I875F	probably damaging	Het
Ceacam5	A	T	7: 17,494,764 (GRCm39)	Y924F	probably damaging	Het
Clca4b	A	G	3: 144,628,621 (GRCm39)	I362T	probably benign	Het
Dchs2	A	G	3: 83,253,462 (GRCm39)		probably null	Het
Dlc1	T	A	8: 37,405,118 (GRCm39)	T224S	unknown	Het
Dmxl2	T	C	9: 54,273,916 (GRCm39)		probably null	Het
Dnajc1	A	G	2: 18,313,710 (GRCm39)	F137S	probably damaging	Het
E130311K13Rik	T	C	3: 63,836,722 (GRCm39)	T24A	probably benign	Het
Eya1	T	C	1: 14,301,638 (GRCm39)	E317G	probably null	Het
Fpr-rs6	A	G	17: 20,402,485 (GRCm39)	L292P	probably damaging	Het
Gca	G	T	2: 62,502,753 (GRCm39)	D54Y	possibly damaging	Het
Gm45861	G	A	8: 28,024,517 (GRCm39)		probably null	Het
Gm57858	T	A	3: 36,080,055 (GRCm39)		probably null	Het
Gtf2a1l	A	G	17: 89,001,566 (GRCm39)	T141A	possibly damaging	Het
Hgsnat	T	C	8: 26,447,241 (GRCm39)	N351S	probably benign	Het
Htr1f	A	T	16: 64,746,383 (GRCm39)	V303E	probably damaging	Het
Iars2	C	A	1: 185,055,063 (GRCm39)	W302L	probably damaging	Het
Igkv4-74	T	A	6: 69,162,100 (GRCm39)	Q23L	possibly damaging	Het
Il18	A	T	9: 50,476,673 (GRCm39)		probably benign	Het
Ints4	A	G	7: 97,155,335 (GRCm39)	D329G	probably benign	Het
Itsn1	T	C	16: 91,650,073 (GRCm39)	F249S	possibly damaging	Het
Ktn1	A	G	14: 47,932,089 (GRCm39)	E672G	probably null	Het
Lhx6	A	G	2: 35,974,083 (GRCm39)	I359T	possibly damaging	Het
Lrp1b	T	C	2: 41,003,041 (GRCm39)	E2030G		Het
Macf1	T	A	4: 123,386,556 (GRCm39)	K1114N	probably damaging	Het
Mbd5	A	G	2: 49,147,892 (GRCm39)	M701V	possibly damaging	Het
Mfsd4b2	T	A	10: 39,797,877 (GRCm39)	K159N	probably benign	Het
Mroh2b	T	A	15: 4,938,109 (GRCm39)	D243E	probably damaging	Het
Muc21	T	C	17: 35,931,568 (GRCm39)	S873G	unknown	Het
Mug1	A	T	6: 121,852,399 (GRCm39)	Q829L	probably benign	Het
Nav3	A	T	10: 109,659,439 (GRCm39)	V726E	probably damaging	Het
Nfib	T	C	4: 82,271,826 (GRCm39)	Q247R	probably benign	Het
Npbwr1	T	C	1: 5,987,151 (GRCm39)	N121S	probably damaging	Het
Or1e19	T	C	11: 73,316,296 (GRCm39)	D171G	probably benign	Het
Or52b2	T	A	7: 104,986,707 (GRCm39)	D72V	probably damaging	Het
Or5h19	A	T	16: 58,856,379 (GRCm39)	C240*	probably null	Het
Pkd1l3	A	G	8: 110,355,409 (GRCm39)	S726G	probably benign	Het
Ppip5k1	A	T	2: 121,167,232 (GRCm39)	V847D	probably damaging	Het
Ptpn18	G	A	1: 34,512,445 (GRCm39)	D417N	possibly damaging	Het
Ripor2	G	A	13: 24,880,290 (GRCm39)	V385M	unknown	Het
Rufy1	C	T	11: 50,298,655 (GRCm39)	V379M	possibly damaging	Het
S100a5	A	G	3: 90,517,207 (GRCm39)	K26R	probably damaging	Het
Sin3a	T	C	9: 57,002,809 (GRCm39)	S234P	probably benign	Het
Sirt7	G	A	11: 120,511,618 (GRCm39)	T225I	probably benign	Het
Slc34a1	A	T	13: 24,006,401 (GRCm39)	T476S	probably damaging	Het
Slc38a6	T	A	12: 73,397,351 (GRCm39)	M331K	probably benign	Het
Spam1	T	C	6: 24,796,907 (GRCm39)	I286T	probably damaging	Het
Syne1	T	A	10: 5,002,793 (GRCm39)	I214F	possibly damaging	Het
Tmtc1	A	G	6: 148,226,643 (GRCm39)	L427P	probably damaging	Het
Tpbg	G	A	9: 85,726,903 (GRCm39)	A291T	possibly damaging	Het
Zfp40	A	G	17: 23,397,362 (GRCm39)	F45S	possibly damaging	Het
Zfp451	C	T	1: 33,816,094 (GRCm39)	V619M	probably damaging	Het
Zim1	A	G	7: 6,680,811 (GRCm39)	L284P	probably damaging	Het
Zkscan4	A	G	13: 21,668,044 (GRCm39)	E165G	probably benign	Het
Zmynd11	T	A	13: 9,748,720 (GRCm39)	N154Y	probably benign	Het
Zscan12	A	T	13: 21,553,457 (GRCm39)	H427L	possibly damaging	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
IGL03148:Mcemp1	APN	8	3,717,390 (GRCm39)	splice site	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
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

Predicted Primers

PCR Primer
(F):5'- AGAGGCTGGGTTTCTGAAATGC -3'
(R):5'- CACAGCTCCTTGGACATCTC -3'

Sequencing Primer
(F):5'- GGTTTCTGAAATGCTTCTGGC -3'
(R):5'- GGACATCTCAGAATCTGTTTAGGAG -3'

Posted On

2019-10-07