Mutagenetix > Incidental Mutation

Incidental Mutation 'R5187:Ermap'

478110

Institutional Source

Beutler Lab

Gene Symbol

Ermap

Ensembl Gene

ENSMUSG00000028644

Gene Name

erythroblast membrane-associated protein

Synonyms

MMRRC Submission

042766-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R5187 (G1)

Quality Score

205

Status

Not validated

Chromosome

Chromosomal Location

119032654-119047208 bp(-) (GRCm39)

Type of Mutation

critical splice acceptor site

DNA Base Change (assembly)

T to C at 119043015 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000120202 (fasta)

Gene Model

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

AlphaFold

Q9JLN5

Predicted Effect

silent
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 null
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

silent
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

silent
Transcript: ENSMUST00000138395

SMART Domains

Protein: ENSMUSP00000123426
Gene: ENSMUSG00000028644

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: ENSMUST00000156746

SMART Domains

Protein: ENSMUSP00000118640
Gene: ENSMUSG00000028644

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

Predicted Effect

probably benign
Transcript: ENSMUST00000150864

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.3%
20x: 95.5%

Validation Efficiency

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: 65 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930505A04Rik	C	T	11: 30,376,349 (GRCm39)	V173M	probably damaging	Het
Abcg5	A	G	17: 84,965,992 (GRCm39)	L628S	probably damaging	Het
Acbd3	C	T	1: 180,564,297 (GRCm39)	R201*	probably null	Het
Adsl	A	G	15: 80,833,106 (GRCm39)		probably benign	Het
Asic1	GCACC	GCACCACC	15: 99,596,684 (GRCm39)		probably benign	Het
Cachd1	T	C	4: 100,823,397 (GRCm39)	V483A	possibly damaging	Het
Calm1	T	C	12: 100,166,472 (GRCm39)	S19P	probably benign	Het
Casq1	T	C	1: 172,040,641 (GRCm39)	N313S	possibly damaging	Het
Cav2	G	T	6: 17,286,935 (GRCm39)	A64S	possibly damaging	Het
Ccdc167	C	A	17: 29,924,485 (GRCm39)	A39S	possibly damaging	Het
Cd274	T	C	19: 29,359,936 (GRCm39)	L247P	probably benign	Het
Cdhr5	T	C	7: 140,854,361 (GRCm39)	E138G	probably damaging	Het
Cltb	C	T	13: 54,741,693 (GRCm39)	C81Y	probably benign	Het
Clvs1	T	C	4: 9,281,865 (GRCm39)	L103P	possibly damaging	Het
Cntrob	G	T	11: 69,212,717 (GRCm39)	Q106K	possibly damaging	Het
Ctsh	T	C	9: 89,936,643 (GRCm39)	L14P	probably damaging	Het
Cubn	T	C	2: 13,292,379 (GRCm39)	N3268S	probably damaging	Het
Cyb5r4	T	C	9: 86,909,001 (GRCm39)	V26A	possibly damaging	Het
Ddx18	A	G	1: 121,489,857 (GRCm39)	I184T	probably damaging	Het
Ddx60	T	A	8: 62,427,222 (GRCm39)	W766R	probably damaging	Het
Dnah2	C	T	11: 69,349,746 (GRCm39)	R2399Q	probably benign	Het
Dnah5	G	A	15: 28,272,318 (GRCm39)	V1041I	probably benign	Het
Dnajc21	A	T	15: 10,464,050 (GRCm39)	N38K	probably benign	Het
Fryl	A	G	5: 73,243,943 (GRCm39)	L1209P	possibly damaging	Het
Gm5093	T	C	17: 46,750,799 (GRCm39)	E76G	possibly damaging	Het
Grk6	T	C	13: 55,599,519 (GRCm39)	C169R	probably damaging	Het
Hmgn1	A	T	16: 95,923,627 (GRCm39)		probably null	Het
Lpcat2b	T	A	5: 107,582,001 (GRCm39)	Y443*	probably null	Het
Macf1	T	A	4: 123,365,882 (GRCm39)	M1395L	probably benign	Het
Mllt10	C	T	2: 18,213,585 (GRCm39)	Q997*	probably null	Het
Mocos	T	A	18: 24,825,611 (GRCm39)	V722E	probably damaging	Het
Moxd2	A	T	6: 40,856,271 (GRCm39)	L534M	probably benign	Het
Mphosph10	T	C	7: 64,035,568 (GRCm39)	M368V	possibly damaging	Het
Myo15a	G	A	11: 60,394,440 (GRCm39)	G2383D	probably damaging	Het
Myo5b	T	C	18: 74,834,745 (GRCm39)	I935T	possibly damaging	Het
Ndst4	T	A	3: 125,231,560 (GRCm39)	L43H	probably damaging	Het
Niban1	T	A	1: 151,579,580 (GRCm39)	L433Q	possibly damaging	Het
Nsl1	A	G	1: 190,807,387 (GRCm39)	N189D	probably benign	Het
Odad1	A	G	7: 45,578,540 (GRCm39)	I77V	probably damaging	Het
Or51e1	A	T	7: 102,358,868 (GRCm39)	H134L	probably damaging	Het
Pcdh8	T	C	14: 80,007,594 (GRCm39)	D323G	probably damaging	Het
Pkhd1	A	G	1: 20,279,448 (GRCm39)	S2957P	possibly damaging	Het
Prdm9	T	G	17: 15,783,155 (GRCm39)	E42D	probably damaging	Het
Rasal1	C	A	5: 120,813,460 (GRCm39)	H611Q	probably benign	Het
Relch	T	A	1: 105,646,534 (GRCm39)	L620*	probably null	Het
Rif1	T	A	2: 51,971,301 (GRCm39)	W260R	probably damaging	Het
Rpain	A	G	11: 70,864,658 (GRCm39)	D115G	probably benign	Het
Rpl3l	T	C	17: 24,951,429 (GRCm39)	V110A	possibly damaging	Het
Ryr2	T	A	13: 11,787,338 (GRCm39)	I1012F	probably damaging	Het
Sema4f	A	G	6: 82,894,631 (GRCm39)	V480A	probably benign	Het
Slc35a3	T	A	3: 116,474,794 (GRCm39)	K199N	probably damaging	Het
Slc5a6	T	C	5: 31,200,322 (GRCm39)	Y121C	probably damaging	Het
Slc7a14	T	C	3: 31,291,514 (GRCm39)		probably null	Het
Sort1	T	A	3: 108,231,992 (GRCm39)	I172N	probably damaging	Het
Spink5	C	A	18: 44,122,518 (GRCm39)	H328N	probably damaging	Het
Tbl1xr1	A	G	3: 22,263,770 (GRCm39)	D504G	probably damaging	Het
Tcaf3	C	T	6: 42,573,954 (GRCm39)	C86Y	possibly damaging	Het
Tfap2e	T	C	4: 126,628,434 (GRCm39)	D174G	probably benign	Het
Tmem42	T	C	9: 122,851,232 (GRCm39)	V65A	probably damaging	Het
Vmn1r225	C	G	17: 20,723,177 (GRCm39)	T206R	probably damaging	Het
Vmn2r38	A	G	7: 9,100,571 (GRCm39)	F65S	probably benign	Het
Vmn2r87	A	T	10: 130,333,208 (GRCm39)	L14Q	probably null	Het
Xirp2	T	C	2: 67,345,711 (GRCm39)	S2651P	probably benign	Het
Zfp429	G	A	13: 67,538,959 (GRCm39)	L162F	probably damaging	Het
Zhx1	A	T	15: 57,915,819 (GRCm39)	M809K	probably damaging	Het

Other mutations in Ermap

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00539:Ermap	APN	4	119,041,114 (GRCm39)	missense	probably damaging	1.00
IGL01402:Ermap	APN	4	119,044,355 (GRCm39)	missense	probably damaging	1.00
IGL02471:Ermap	APN	4	119,037,160 (GRCm39)	missense	probably damaging	0.99
IGL02696:Ermap	APN	4	119,044,904 (GRCm39)	missense	possibly damaging	0.89
IGL02806:Ermap	APN	4	119,046,113 (GRCm39)	missense	possibly damaging	0.91
Ermine	UTSW	4	119,035,706 (GRCm39)	nonsense	probably null
Mink	UTSW	4	119,045,445 (GRCm39)	intron	probably benign
Weasel	UTSW	4	119,044,355 (GRCm39)	missense	probably damaging	1.00
R0017:Ermap	UTSW	4	119,037,145 (GRCm39)	splice site	probably benign
R0645:Ermap	UTSW	4	119,042,888 (GRCm39)	missense	probably benign	0.04
R0737:Ermap	UTSW	4	119,035,707 (GRCm39)	missense	probably damaging	1.00
R1204:Ermap	UTSW	4	119,046,064 (GRCm39)	missense	possibly damaging	0.91
R1239:Ermap	UTSW	4	119,046,122 (GRCm39)	missense	probably benign
R1351:Ermap	UTSW	4	119,038,558 (GRCm39)	splice site	probably null
R1597:Ermap	UTSW	4	119,041,152 (GRCm39)	missense	probably damaging	1.00
R4128:Ermap	UTSW	4	119,044,308 (GRCm39)	missense	possibly damaging	0.89
R4588:Ermap	UTSW	4	119,045,445 (GRCm39)	intron	probably benign
R4853:Ermap	UTSW	4	119,044,451 (GRCm39)	missense	probably damaging	1.00
R4906:Ermap	UTSW	4	119,046,015 (GRCm39)	intron	probably benign
R4946:Ermap	UTSW	4	119,040,505 (GRCm39)	missense	probably damaging	1.00
R6275:Ermap	UTSW	4	119,035,747 (GRCm39)	missense	probably damaging	1.00
R6301:Ermap	UTSW	4	119,042,800 (GRCm39)	missense	probably damaging	1.00
R6458:Ermap	UTSW	4	119,035,337 (GRCm39)	missense	probably damaging	1.00
R6896:Ermap	UTSW	4	119,044,328 (GRCm39)	nonsense	probably null
R6997:Ermap	UTSW	4	119,035,810 (GRCm39)	missense	probably damaging	1.00
R7445:Ermap	UTSW	4	119,045,907 (GRCm39)	missense	unknown
R8193:Ermap	UTSW	4	119,041,140 (GRCm39)	missense	possibly damaging	0.87
R8711:Ermap	UTSW	4	119,044,355 (GRCm39)	missense	probably damaging	1.00
R9026:Ermap	UTSW	4	119,035,240 (GRCm39)	missense	probably damaging	1.00
R9210:Ermap	UTSW	4	119,035,706 (GRCm39)	nonsense	probably null
R9301:Ermap	UTSW	4	119,042,744 (GRCm39)	missense	probably damaging	0.98
R9335:Ermap	UTSW	4	119,035,545 (GRCm39)	missense	probably damaging	1.00
Z1177:Ermap	UTSW	4	119,042,758 (GRCm39)	missense	probably benign	0.00

Predicted Primers

PCR Primer
(F):5'- CAGGGCATTGTCCCTGATTC -3'
(R):5'- CGTTTTGTGGTGAACCGAGC -3'

Sequencing Primer
(F):5'- TGGACACTGCTGTTCGGAAC -3'
(R):5'- TGAACCGAGCAGCTGTG -3'

Posted On

2017-05-25