Mutagenetix > Incidental Mutations

Incidental Mutation 'R6275:Ermap'

507568

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 #

R6275 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

119175457-119190011 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 119178550 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Valine to Methionine at position 414 (V414M)

Ref Sequence

ENSEMBL: ENSMUSP00000123426 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000030396] [ENSMUST00000052715] [ENSMUST00000106355] [ENSMUST00000138395] [ENSMUST00000154226] [ENSMUST00000179290]

AlphaFold

Q9JLN5

Predicted Effect

probably benign
Transcript: ENSMUST00000030396

SMART Domains

Protein: ENSMUSP00000030396
Gene: ENSMUSG00000028644

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: ENSMUST00000052715

SMART Domains

Protein: ENSMUSP00000053013
Gene: ENSMUSG00000045268

Domain	Start	End	E-Value	Type
ZnF_C2H2	83	105	4.54e-4	SMART
ZnF_C2H2	111	133	5.99e-4	SMART
ZnF_C2H2	139	161	3.89e-3	SMART
ZnF_C2H2	167	189	3.95e-4	SMART
ZnF_C2H2	195	217	4.72e-2	SMART
ZnF_C2H2	223	245	2.4e-3	SMART
ZnF_C2H2	251	273	1.6e-4	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000106355

SMART Domains

Protein: ENSMUSP00000101962
Gene: ENSMUSG00000045268

Domain	Start	End	E-Value	Type
ZnF_C2H2	83	105	4.54e-4	SMART
ZnF_C2H2	111	133	5.99e-4	SMART
ZnF_C2H2	139	161	3.89e-3	SMART
ZnF_C2H2	167	189	3.95e-4	SMART
ZnF_C2H2	195	217	4.72e-2	SMART
ZnF_C2H2	223	245	2.4e-3	SMART
ZnF_C2H2	251	273	1.6e-4	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000127574

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000137080

Predicted Effect

probably damaging
Transcript: ENSMUST00000138395
AA Change: V414M

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000123426
Gene: ENSMUSG00000028644
AA Change: V414M

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: ENSMUST00000154226

Predicted Effect

probably benign
Transcript: ENSMUST00000179290

SMART Domains

Protein: ENSMUSP00000136119
Gene: ENSMUSG00000045268

Domain	Start	End	E-Value	Type
ZnF_C2H2	83	105	4.54e-4	SMART
ZnF_C2H2	111	133	5.99e-4	SMART
ZnF_C2H2	139	161	3.89e-3	SMART
ZnF_C2H2	167	189	3.95e-4	SMART
ZnF_C2H2	195	217	4.72e-2	SMART
ZnF_C2H2	223	245	2.4e-3	SMART
ZnF_C2H2	251	273	1.6e-4	SMART

Meta Mutation Damage Score

0.3015

Coding Region Coverage

1x: 99.9%
3x: 99.7%
10x: 98.3%
20x: 95.4%

Validation Efficiency

98% (56/57)

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: 57 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4932415D10Rik	T	C	10: 82,285,368	D3936G	probably damaging	Het
Abca7	T	A	10: 79,997,791	L30H	probably damaging	Het
Abcb6	T	C	1: 75,172,551		probably null	Het
Acsbg1	T	A	9: 54,609,772	M586L	probably benign	Het
Ano6	A	T	15: 95,913,433	Y159F	probably damaging	Het
C1ql1	A	G	11: 102,939,749	I254T	probably damaging	Het
Ccdc81	T	C	7: 89,882,311	D318G	possibly damaging	Het
Ccr7	C	T	11: 99,145,663	M144I	probably damaging	Het
Cdca3	C	T	6: 124,832,664		probably null	Het
Ces1h	A	T	8: 93,372,646	L93I	probably benign	Het
Cntfr	T	C	4: 41,663,216	D197G	possibly damaging	Het
Cyp2d12	C	A	15: 82,556,658	P126T	probably benign	Het
Dnah10	A	G	5: 124,785,184	T2225A	probably damaging	Het
Edrf1	A	T	7: 133,667,582	N1147Y	possibly damaging	Het
Fam13a	A	G	6: 58,954,257	I446T	probably damaging	Het
Fgfbp3	T	C	19: 36,918,753	H155R	possibly damaging	Het
Folr1	T	A	7: 101,859,535	N61I	probably damaging	Het
Fsip1	T	C	2: 118,205,102	I431V	probably benign	Het
Gm5039	T	C	12: 88,321,225	D86G	possibly damaging	Het
Gm5493	A	T	17: 22,750,070	E74D	probably benign	Het
Gm6803	T	C	12: 88,018,485	N96S	probably benign	Het
H2-Oa	A	G	17: 34,094,566	D197G	probably benign	Het
Hps1	T	C	19: 42,769,607	E169G	probably null	Het
Il17rc	A	T	6: 113,480,347	M372L	probably benign	Het
Itga10	A	G	3: 96,658,185	S1042G	probably benign	Het
Jchain	A	T	5: 88,521,353	V147E	probably damaging	Het
Laptm4b	A	G	15: 34,283,327	T211A	probably benign	Het
Mal2	T	C	15: 54,571,639		probably null	Het
Mov10l1	T	A	15: 89,026,620	I1071N	probably damaging	Het
Mpp2	T	A	11: 102,060,969	Y401F	probably damaging	Het
Myh15	A	G	16: 49,145,247	T1172A	probably benign	Het
Olfr635	T	A	7: 103,979,974	S261T	probably damaging	Het
Pcnx	G	T	12: 81,918,607	S516I	probably benign	Het
Pidd1	C	T	7: 141,439,795	A685T	probably damaging	Het
Psg28	A	C	7: 18,430,440	Y116D	probably damaging	Het
Psmd11	T	C	11: 80,438,632		probably benign	Het
Rapgefl1	T	A	11: 98,851,120	Y637N	probably damaging	Het
Rbm25	T	A	12: 83,644,432	M66K	probably damaging	Het
Rnf38	T	A	4: 44,152,408	H52L	probably benign	Het
Rsf1	CGGCGGCGG	CGGCGGCGGTGGCGGCGG	7: 97,579,923		probably benign	Het
Sec62	A	G	3: 30,809,836	Q89R	probably damaging	Het
Serpina6	T	A	12: 103,648,720	Q289L	probably benign	Het
Sf3b2	A	C	19: 5,283,650	I640S	probably damaging	Het
Slc13a2	CGTTATCTGT	CGT	11: 78,403,480		probably benign	Het
Slc26a11	T	C	11: 119,359,299	F127L	probably benign	Het
Stac3	T	A	10: 127,507,746	Y252*	probably null	Het
Stoml3	G	A	3: 53,507,506	A240T	probably damaging	Het
Tanc1	A	T	2: 59,843,510	H1653L	probably benign	Het
Tll1	A	T	8: 64,051,367	L665*	probably null	Het
Tnr	A	C	1: 159,861,270	Q434P	probably damaging	Het
Tpgs1	C	A	10: 79,675,520	D165E	probably benign	Het
Tsc2	A	G	17: 24,600,420	V1185A	probably benign	Het
Tulp4	A	G	17: 6,198,736	H203R	probably damaging	Het
Txnl4a	T	A	18: 80,218,765	M72K	possibly damaging	Het
Usp42	G	A	5: 143,714,972	R1099W	probably damaging	Het
Zfp292	G	A	4: 34,808,883	A1387V	possibly damaging	Het
Zfp994	A	T	17: 22,199,991	L659*	probably null	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
R6301:Ermap	UTSW	4	119185603	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
R8193:Ermap	UTSW	4	119183943	missense	possibly damaging	0.87
R8711:Ermap	UTSW	4	119187158	missense	probably damaging	1.00
R9026:Ermap	UTSW	4	119178043	missense	probably damaging	1.00
R9210:Ermap	UTSW	4	119178509	nonsense	probably null
R9301:Ermap	UTSW	4	119185547	missense	probably damaging	0.98
R9335:Ermap	UTSW	4	119178348	missense	probably damaging	1.00
Z1177:Ermap	UTSW	4	119185561	missense	probably benign	0.00

Predicted Primers

PCR Primer
(F):5'- ACTCTTTGAGGCGGAAGGAG -3'
(R):5'- CCCTCCAAATCTACTGGGAGATTC -3'

Sequencing Primer
(F):5'- CTTTGAGGCGGAAGGAGGTCTG -3'
(R):5'- TCTCTAATTCTCTGCAGTGGC -3'

Posted On

2018-03-15