Mutagenetix > Incidental Mutation

Incidental Mutation 'R4853:Ermap'

373696

Institutional Source

Beutler Lab

Gene Symbol

Ermap

Ensembl Gene

ENSMUSG00000028644

Gene Name

erythroblast membrane-associated protein

Synonyms

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R4853 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

119032654-119047208 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 119044451 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Proline to Leucine at position 115 (P115L)

Ref Sequence

ENSEMBL: ENSMUSP00000123426 (fasta)

Gene Model

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

AlphaFold

Q9JLN5

Predicted Effect

probably damaging
Transcript: ENSMUST00000030396
AA Change: P115L

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

SMART Domains

Protein: ENSMUSP00000030396
Gene: ENSMUSG00000028644
AA Change: P115L

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

possibly damaging
Transcript: ENSMUST00000124626
AA Change: P115L

PolyPhen 2 Score 0.786 (Sensitivity: 0.85; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000120202
Gene: ENSMUSG00000028644
AA Change: P115L

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000127574

Predicted Effect

probably damaging
Transcript: ENSMUST00000133956
AA Change: P89L

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

SMART Domains

Protein: ENSMUSP00000120181
Gene: ENSMUSG00000028644
AA Change: P89L

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: P115L

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

SMART Domains

Protein: ENSMUSP00000123426
Gene: ENSMUSG00000028644
AA Change: P115L

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: 99.1%
3x: 98.4%
10x: 96.8%
20x: 93.8%

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
Ablim2	C	T	5: 35,959,766 (GRCm39)	R73C	possibly damaging	Het
Abr	T	C	11: 76,355,087 (GRCm39)	T244A	probably damaging	Het
Adcy10	T	A	1: 165,375,782 (GRCm39)	N803K	probably benign	Het
Afm	T	C	5: 90,699,326 (GRCm39)	F590S	probably damaging	Het
Agk	T	C	6: 40,360,753 (GRCm39)		probably null	Het
Agrn	C	T	4: 156,270,007 (GRCm39)		probably null	Het
Apon	A	G	10: 128,090,951 (GRCm39)	S210G	probably benign	Het
Atad5	A	G	11: 79,986,098 (GRCm39)	E395G	probably damaging	Het
AU018091	A	T	7: 3,205,861 (GRCm39)	L671H	probably damaging	Het
Capn13	GCA	G	17: 73,658,501 (GRCm39)		probably null	Het
Ccdc154	A	T	17: 25,389,941 (GRCm39)	I524F	probably damaging	Het
Clspn	T	A	4: 126,460,348 (GRCm39)	I525K	probably damaging	Het
Cpne5	A	T	17: 29,380,172 (GRCm39)	V448E	probably benign	Het
Cps1	A	G	1: 67,195,361 (GRCm39)	I261V	possibly damaging	Het
Crybb2	T	C	5: 113,211,054 (GRCm39)	E78G	probably damaging	Het
Ctps1	G	T	4: 120,411,207 (GRCm39)	L270I	probably damaging	Het
Cyp19a1	T	C	9: 54,074,060 (GRCm39)	D431G	probably benign	Het
Cyp3a57	T	G	5: 145,302,489 (GRCm39)	V95G	probably damaging	Het
Ddx54	A	G	5: 120,761,694 (GRCm39)	D490G	probably benign	Het
Dnai2	A	T	11: 114,635,917 (GRCm39)	I301F	probably benign	Het
Dsg1b	A	G	18: 20,541,793 (GRCm39)	S767G	probably benign	Het
Dsg1b	A	T	18: 20,523,189 (GRCm39)		probably null	Het
Esrra	T	G	19: 6,897,440 (GRCm39)	T106P	probably damaging	Het
Exoc5	GTATT	GT	14: 49,289,826 (GRCm39)		probably benign	Het
Flt1	C	A	5: 147,620,749 (GRCm39)	A132S	probably benign	Het
Gas2l3	CACTCGTCATACT	CACT	10: 89,266,820 (GRCm39)		probably benign	Het
Gnl3	T	C	14: 30,737,270 (GRCm39)	K203E	probably damaging	Het
H2ac13	A	G	13: 21,900,866 (GRCm39)	E92G	probably damaging	Het
Habp2	G	A	19: 56,299,623 (GRCm39)		probably null	Het
Kcnh3	A	C	15: 99,139,970 (GRCm39)	D952A	possibly damaging	Het
Kif27	T	C	13: 58,459,072 (GRCm39)	K920E	probably benign	Het
Kmt2e	C	T	5: 23,707,339 (GRCm39)	P1634L	probably damaging	Het
Lamc1	A	T	1: 153,104,846 (GRCm39)	M1312K	possibly damaging	Het
Myh14	T	A	7: 44,257,872 (GRCm39)	Q1921L	probably damaging	Het
Ncor2	A	G	5: 125,102,169 (GRCm39)	V68A	probably damaging	Het
Ncor2	A	G	5: 125,158,247 (GRCm39)	F444L	unknown	Het
Nedd9	A	G	13: 41,469,837 (GRCm39)	Y439H	probably benign	Het
Nsd1	T	A	13: 55,416,317 (GRCm39)	H1454Q	probably benign	Het
Or10v9	T	A	19: 11,832,645 (GRCm39)	D224V	probably benign	Het
Or51v8	G	T	7: 103,320,010 (GRCm39)	T76K	probably damaging	Het
Or5i1	T	G	2: 87,613,526 (GRCm39)	F214C	probably benign	Het
Or9m1b	A	G	2: 87,836,448 (GRCm39)	S216P	probably damaging	Het
P4ha2	G	A	11: 54,010,996 (GRCm39)	S337N	probably benign	Het
Pck1	T	A	2: 172,996,507 (GRCm39)	Y140*	probably null	Het
Phldb2	T	C	16: 45,623,079 (GRCm39)	M656V	probably damaging	Het
Pif1	T	C	9: 65,500,858 (GRCm39)	W559R	probably damaging	Het
Pllp	T	C	8: 95,406,022 (GRCm39)	Y87C	probably damaging	Het
Ppp1r3a	T	C	6: 14,719,046 (GRCm39)	N623D	probably benign	Het
Prkcg	C	T	7: 3,367,469 (GRCm39)	R345C	probably damaging	Het
Rgl1	T	C	1: 152,433,325 (GRCm39)	I147V	probably benign	Het
Sdk1	T	A	5: 142,132,018 (GRCm39)	L1649Q	probably damaging	Het
Sema3b	C	T	9: 107,479,266 (GRCm39)		probably null	Het
Sh3rf3	G	A	10: 58,919,341 (GRCm39)	R486H	probably damaging	Het
Shoc1	T	C	4: 59,072,345 (GRCm39)	K624E	possibly damaging	Het
Slain2	A	G	5: 73,105,941 (GRCm39)	N192S	probably benign	Het
Slc22a16	T	A	10: 40,450,047 (GRCm39)	I161N	probably damaging	Het
Strip1	T	C	3: 107,524,232 (GRCm39)	K562E	possibly damaging	Het
Sumf1	A	G	6: 108,162,456 (GRCm39)	L21S	probably benign	Het
Sytl3	T	A	17: 7,005,164 (GRCm39)	S380T	probably damaging	Het
Tgfb1i1	T	A	7: 127,847,840 (GRCm39)	C74*	probably null	Het
Tmprss15	T	G	16: 78,757,479 (GRCm39)	I939L	probably benign	Het
Tpsb2	GGCTGCTGCTGCTGCTG	GGCTGCTGCTGCTG	17: 25,585,536 (GRCm39)		probably benign	Het
Vwde	A	T	6: 13,215,639 (GRCm39)	V139E	probably damaging	Het
Wdr27	A	G	17: 15,137,475 (GRCm39)		probably null	Het
Zkscan14	A	G	5: 145,132,001 (GRCm39)	V510A	probably benign	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
R4906:Ermap	UTSW	4	119,046,015 (GRCm39)	intron	probably benign
R4946:Ermap	UTSW	4	119,040,505 (GRCm39)	missense	probably damaging	1.00
R5187:Ermap	UTSW	4	119,043,015 (GRCm39)	critical splice acceptor site	probably null
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'- ACCAGTCAGGGTTTCACTAAGTTG -3'
(R):5'- TGGCAAGGTCTACATAGCCC -3'

Sequencing Primer
(F):5'- CAGGGTTTCACTAAGTTGAATGGAC -3'
(R):5'- AAGGTCTACATAGCCCCTCTTAGG -3'

Posted On

2016-03-01