Mutagenetix > Incidental Mutations

Incidental Mutation 'R6301:Ermap'

509083

Institutional Source

Beutler Lab

Gene Symbol

Ermap

Ensembl Gene

ENSMUSG00000028644

Gene Name

erythroblast membrane-associated protein

Synonyms

MMRRC Submission

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R6301 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

119175457-119190011 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 119185603 bp

Zygosity

Heterozygous

Amino Acid Change

Valine to Glutamic Acid at position 241 (V241E)

Ref Sequence

ENSEMBL: ENSMUSP00000123426 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000030396] [ENSMUST00000124626] [ENSMUST00000133956] [ENSMUST00000138395] [ENSMUST00000141227] [ENSMUST00000150864] [ENSMUST00000156746]

Predicted Effect

probably damaging
Transcript: ENSMUST00000030396
AA Change: V241E

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000030396
Gene: ENSMUSG00000028644
AA Change: V241E

Domain	Start	End	E-Value	Type
IGv	68	151	9.26e-8	SMART
Blast:IG_like	174	260	1e-19	BLAST
transmembrane domain	272	294	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000124626

SMART Domains

Protein: ENSMUSP00000120202
Gene: ENSMUSG00000028644

Domain	Start	End	E-Value	Type
IGv	68	151	9.26e-8	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000127574

Predicted Effect

probably benign
Transcript: ENSMUST00000133956

SMART Domains

Protein: ENSMUSP00000120181
Gene: ENSMUSG00000028644

Domain	Start	End	E-Value	Type
IGv	42	125	9.26e-8	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000137080

Predicted Effect

probably damaging
Transcript: ENSMUST00000138395
AA Change: V241E

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000123426
Gene: ENSMUSG00000028644
AA Change: V241E

Domain	Start	End	E-Value	Type
IGv	68	151	9.26e-8	SMART
transmembrane domain	272	294	N/A	INTRINSIC
coiled coil region	304	342	N/A	INTRINSIC
PRY	354	406	1.15e-27	SMART
SPRY	407	532	3.25e-28	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000141227

Predicted Effect

probably benign
Transcript: ENSMUST00000150864

Predicted Effect

probably benign
Transcript: ENSMUST00000156746

SMART Domains

Protein: ENSMUSP00000118640
Gene: ENSMUSG00000028644

Domain	Start	End	E-Value	Type
Blast:IG	78	107	6e-14	BLAST

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.5%
20x: 98.5%

Validation Efficiency

100% (66/66)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a cell surface transmembrane protein that may act as an erythroid cell receptor, possibly as a mediator of cell adhesion. Polymorphisms in this gene are responsible for the Scianna/Radin blood group system. Two transcript variants encoding the same protein have been found for this gene. [provided by RefSeq, Jul 2008]

Allele List at MGI

Other mutations in this stock

Total: 61 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acot10	T	C	15: 20,666,262	N131S	probably benign	Het
Agbl5	A	G	5: 30,891,833	Y220C	probably damaging	Het
Ankdd1a	C	T	9: 65,508,061	A227T	possibly damaging	Het
Ap3b1	A	T	13: 94,528,295	Q914L	unknown	Het
Arhgef25	T	C	10: 127,185,882	D216G	possibly damaging	Het
Bcas2	T	A	3: 103,171,871		probably benign	Het
Bpifb5	A	C	2: 154,230,219	H282P	possibly damaging	Het
Ccdc167	A	G	17: 29,705,582	I15T	probably damaging	Het
Cd248	A	G	19: 5,069,981	N619S	probably benign	Het
Chrna1	A	G	2: 73,570,484	F234S	possibly damaging	Het
Clcc1	T	G	3: 108,673,366	M332R	probably damaging	Het
Cmklr1	T	A	5: 113,614,938	M1L	possibly damaging	Het
Cntnap5c	A	G	17: 57,892,037	M109V	probably benign	Het
Coq2	A	G	5: 100,661,863	I18T	possibly damaging	Het
Crybg3	T	C	16: 59,530,338	S880G	probably damaging	Het
Cubn	A	G	2: 13,478,078	C286R	probably damaging	Het
Defa24	T	C	8: 21,735,283	V63A	probably benign	Het
Dnah6	C	T	6: 73,086,217	R2634H	probably damaging	Het
Dusp8	T	A	7: 142,083,019		probably null	Het
Elac1	T	C	18: 73,738,868	D352G	probably damaging	Het
Fgf10	T	A	13: 118,715,511	M43K	probably benign	Het
Gabrd	A	G	4: 155,387,267	V193A	probably damaging	Het
Gm13124	C	T	4: 144,558,654	A138T	probably damaging	Het
Gm6588	A	T	5: 112,450,468	I294F	possibly damaging	Het
Gm884	A	T	11: 103,618,930		probably benign	Het
Hectd4	T	G	5: 121,254,220	C182W	possibly damaging	Het
Hook3	C	T	8: 26,034,940	W26*	probably null	Het
Kif1a	C	A	1: 93,054,941	E714*	probably null	Het
Krt6b	T	C	15: 101,678,951	E236G	probably damaging	Het
Large2	A	G	2: 92,369,516	L209P	probably damaging	Het
Lats1	A	G	10: 7,703,107	N665S	probably benign	Het
Lrrtm3	T	C	10: 64,089,222	I55M	probably benign	Het
Ltk	A	G	2: 119,751,757	S838P	probably damaging	Het
Ltn1	T	C	16: 87,420,306	I348V	probably benign	Het
Mag	T	A	7: 30,900,679	S559C	probably damaging	Het
Mink1	A	G	11: 70,612,294	H1072R	possibly damaging	Het
Mycbp2	T	A	14: 103,155,426	Q833L	probably damaging	Het
Myh4	G	A	11: 67,255,333	E1406K	possibly damaging	Het
Npc1	C	T	18: 12,197,245	V950I	probably benign	Het
Npl	A	G	1: 153,518,881		probably null	Het
Olfr1493-ps1	A	G	19: 13,726,389	I43V	probably benign	Het
Olfr165	A	T	16: 19,407,417	F200I	possibly damaging	Het
Olfr743	T	A	14: 50,534,254	F281I	probably benign	Het
Olfr883	ATTGCTGTTT	ATTGCTGTTTGCTGTTT	9: 38,026,540		probably null	Het
Oxsm	A	T	14: 16,242,220	I183N	probably damaging	Het
Pde7a	T	C	3: 19,243,163	I108V	probably benign	Het
Pgghg	A	T	7: 140,946,376	T585S	probably damaging	Het
Pkhd1l1	G	A	15: 44,589,525	D3949N	probably damaging	Het
Ralgapa2	A	T	2: 146,327,411	H1777Q	possibly damaging	Het
Rela	G	A	19: 5,645,410		probably null	Het
Rilpl1	C	A	5: 124,514,539	G41W	probably damaging	Het
Rp1	T	C	1: 4,347,254	K1212E	probably benign	Het
Sgca	A	C	11: 94,972,567	L28V	probably damaging	Het
Ssmem1	A	G	6: 30,519,759	R148G	probably damaging	Het
St8sia5	A	T	18: 77,246,140	N165Y	probably damaging	Het
Tbl2	A	T	5: 135,159,369	H339L	probably benign	Het
Tcof1	G	A	18: 60,828,825	P718L	probably damaging	Het
Trim72	A	T	7: 128,004,614	E44V	possibly damaging	Het
Try10	T	A	6: 41,355,589	S60T	probably benign	Het
Usp31	A	T	7: 121,648,276	S1315T	possibly damaging	Het
Xrn2	A	G	2: 147,063,342	I856V	probably benign	Het

Other mutations in Ermap

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00539:Ermap	APN	4	119183917	missense	probably damaging	1.00
IGL01402:Ermap	APN	4	119187158	missense	probably damaging	1.00
IGL02471:Ermap	APN	4	119179963	missense	probably damaging	0.99
IGL02696:Ermap	APN	4	119187707	missense	possibly damaging	0.89
IGL02806:Ermap	APN	4	119188916	missense	possibly damaging	0.91
R0017:Ermap	UTSW	4	119179948	splice site	probably benign
R0645:Ermap	UTSW	4	119185691	missense	probably benign	0.04
R0737:Ermap	UTSW	4	119178510	missense	probably damaging	1.00
R1204:Ermap	UTSW	4	119188867	missense	possibly damaging	0.91
R1239:Ermap	UTSW	4	119188925	missense	probably benign
R1351:Ermap	UTSW	4	119181361	splice site	probably null
R1597:Ermap	UTSW	4	119183955	missense	probably damaging	1.00
R4128:Ermap	UTSW	4	119187111	missense	possibly damaging	0.89
R4588:Ermap	UTSW	4	119188248	intron	probably benign
R4853:Ermap	UTSW	4	119187254	missense	probably damaging	1.00
R4906:Ermap	UTSW	4	119188818	intron	probably benign
R4946:Ermap	UTSW	4	119183308	missense	probably damaging	1.00
R5187:Ermap	UTSW	4	119185818	critical splice acceptor site	probably null
R6275:Ermap	UTSW	4	119178550	missense	probably damaging	1.00
R6458:Ermap	UTSW	4	119178140	missense	probably damaging	1.00
R6896:Ermap	UTSW	4	119187131	nonsense	probably null
R6997:Ermap	UTSW	4	119178613	missense	probably damaging	1.00
R7445:Ermap	UTSW	4	119188710	missense	unknown
Z1177:Ermap	UTSW	4	119185561	missense	probably benign	0.00

Predicted Primers

PCR Primer
(F):5'- AGTCTTGAGAGCCATACCCC -3'
(R):5'- ATCGAGCTGCTGTGTCAATC -3'

Sequencing Primer
(F):5'- GCCTGAATGTCTATGTACCATGCATG -3'
(R):5'- TCAATCAGTGGGATGGTTCC -3'

Posted On

2018-04-02