Incidental Mutation 'R6301:Ermap'
ID 509083
Institutional Source Beutler Lab
Gene Symbol Ermap
Ensembl Gene ENSMUSG00000028644
Gene Name erythroblast membrane-associated protein
Synonyms
MMRRC Submission 044466-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R6301 (G1)
Quality Score 225.009
Status Validated
Chromosome 4
Chromosomal Location 119175457-119190011 bp(-) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) A to T at 119185603 bp (GRCm38)
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]
AlphaFold Q9JLN5
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

DomainStartEndE-ValueType
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

DomainStartEndE-ValueType
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

DomainStartEndE-ValueType
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

DomainStartEndE-ValueType
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

DomainStartEndE-ValueType
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
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acot10 T C 15: 20,666,262 (GRCm38) N131S probably benign Het
Agbl5 A G 5: 30,891,833 (GRCm38) Y220C probably damaging Het
Ankdd1a C T 9: 65,508,061 (GRCm38) A227T possibly damaging Het
Ap3b1 A T 13: 94,528,295 (GRCm38) Q914L unknown Het
Arhgef25 T C 10: 127,185,882 (GRCm38) D216G possibly damaging Het
Bcas2 T A 3: 103,171,871 (GRCm38) probably benign Het
Bpifb5 A C 2: 154,230,219 (GRCm38) H282P possibly damaging Het
Ccdc167 A G 17: 29,705,582 (GRCm38) I15T probably damaging Het
Cd248 A G 19: 5,069,981 (GRCm38) N619S probably benign Het
Chrna1 A G 2: 73,570,484 (GRCm38) F234S possibly damaging Het
Clcc1 T G 3: 108,673,366 (GRCm38) M332R probably damaging Het
Cmklr1 T A 5: 113,614,938 (GRCm38) M1L possibly damaging Het
Cntnap5c A G 17: 57,892,037 (GRCm38) M109V probably benign Het
Coq2 A G 5: 100,661,863 (GRCm38) I18T possibly damaging Het
Crybg3 T C 16: 59,530,338 (GRCm38) S880G probably damaging Het
Cubn A G 2: 13,478,078 (GRCm38) C286R probably damaging Het
Defa24 T C 8: 21,735,283 (GRCm38) V63A probably benign Het
Dnah6 C T 6: 73,086,217 (GRCm38) R2634H probably damaging Het
Dusp8 T A 7: 142,083,019 (GRCm38) probably null Het
Elac1 T C 18: 73,738,868 (GRCm38) D352G probably damaging Het
Fgf10 T A 13: 118,715,511 (GRCm38) M43K probably benign Het
Gabrd A G 4: 155,387,267 (GRCm38) V193A probably damaging Het
Gm13124 C T 4: 144,558,654 (GRCm38) A138T probably damaging Het
Gm6588 A T 5: 112,450,468 (GRCm38) I294F possibly damaging Het
Gm884 A T 11: 103,618,930 (GRCm38) probably benign Het
Hectd4 T G 5: 121,254,220 (GRCm38) C182W possibly damaging Het
Hook3 C T 8: 26,034,940 (GRCm38) W26* probably null Het
Kif1a C A 1: 93,054,941 (GRCm38) E714* probably null Het
Krt6b T C 15: 101,678,951 (GRCm38) E236G probably damaging Het
Large2 A G 2: 92,369,516 (GRCm38) L209P probably damaging Het
Lats1 A G 10: 7,703,107 (GRCm38) N665S probably benign Het
Lrrtm3 T C 10: 64,089,222 (GRCm38) I55M probably benign Het
Ltk A G 2: 119,751,757 (GRCm38) S838P probably damaging Het
Ltn1 T C 16: 87,420,306 (GRCm38) I348V probably benign Het
Mag T A 7: 30,900,679 (GRCm38) S559C probably damaging Het
Mink1 A G 11: 70,612,294 (GRCm38) H1072R possibly damaging Het
Mycbp2 T A 14: 103,155,426 (GRCm38) Q833L probably damaging Het
Myh4 G A 11: 67,255,333 (GRCm38) E1406K possibly damaging Het
Npc1 C T 18: 12,197,245 (GRCm38) V950I probably benign Het
Npl A G 1: 153,518,881 (GRCm38) probably null Het
Olfr1493-ps1 A G 19: 13,726,389 (GRCm38) I43V probably benign Het
Olfr165 A T 16: 19,407,417 (GRCm38) F200I possibly damaging Het
Olfr743 T A 14: 50,534,254 (GRCm38) F281I probably benign Het
Olfr883 ATTGCTGTTT ATTGCTGTTTGCTGTTT 9: 38,026,540 (GRCm38) probably null Het
Oxsm A T 14: 16,242,220 (GRCm38) I183N probably damaging Het
Pde7a T C 3: 19,243,163 (GRCm38) I108V probably benign Het
Pgghg A T 7: 140,946,376 (GRCm38) T585S probably damaging Het
Pkhd1l1 G A 15: 44,589,525 (GRCm38) D3949N probably damaging Het
Ralgapa2 A T 2: 146,327,411 (GRCm38) H1777Q possibly damaging Het
Rela G A 19: 5,645,410 (GRCm38) probably null Het
Rilpl1 C A 5: 124,514,539 (GRCm38) G41W probably damaging Het
Rp1 T C 1: 4,347,254 (GRCm38) K1212E probably benign Het
Sgca A C 11: 94,972,567 (GRCm38) L28V probably damaging Het
Ssmem1 A G 6: 30,519,759 (GRCm38) R148G probably damaging Het
St8sia5 A T 18: 77,246,140 (GRCm38) N165Y probably damaging Het
Tbl2 A T 5: 135,159,369 (GRCm38) H339L probably benign Het
Tcof1 G A 18: 60,828,825 (GRCm38) P718L probably damaging Het
Trim72 A T 7: 128,004,614 (GRCm38) E44V possibly damaging Het
Try10 T A 6: 41,355,589 (GRCm38) S60T probably benign Het
Usp31 A T 7: 121,648,276 (GRCm38) S1315T possibly damaging Het
Xrn2 A G 2: 147,063,342 (GRCm38) I856V probably benign Het
Other mutations in Ermap
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00539:Ermap APN 4 119,183,917 (GRCm38) missense probably damaging 1.00
IGL01402:Ermap APN 4 119,187,158 (GRCm38) missense probably damaging 1.00
IGL02471:Ermap APN 4 119,179,963 (GRCm38) missense probably damaging 0.99
IGL02696:Ermap APN 4 119,187,707 (GRCm38) missense possibly damaging 0.89
IGL02806:Ermap APN 4 119,188,916 (GRCm38) missense possibly damaging 0.91
Ermine UTSW 4 119,178,509 (GRCm38) nonsense probably null
Mink UTSW 4 119,188,248 (GRCm38) intron probably benign
Weasel UTSW 4 119,187,158 (GRCm38) missense probably damaging 1.00
R0017:Ermap UTSW 4 119,179,948 (GRCm38) splice site probably benign
R0645:Ermap UTSW 4 119,185,691 (GRCm38) missense probably benign 0.04
R0737:Ermap UTSW 4 119,178,510 (GRCm38) missense probably damaging 1.00
R1204:Ermap UTSW 4 119,188,867 (GRCm38) missense possibly damaging 0.91
R1239:Ermap UTSW 4 119,188,925 (GRCm38) missense probably benign
R1351:Ermap UTSW 4 119,181,361 (GRCm38) splice site probably null
R1597:Ermap UTSW 4 119,183,955 (GRCm38) missense probably damaging 1.00
R4128:Ermap UTSW 4 119,187,111 (GRCm38) missense possibly damaging 0.89
R4588:Ermap UTSW 4 119,188,248 (GRCm38) intron probably benign
R4853:Ermap UTSW 4 119,187,254 (GRCm38) missense probably damaging 1.00
R4906:Ermap UTSW 4 119,188,818 (GRCm38) intron probably benign
R4946:Ermap UTSW 4 119,183,308 (GRCm38) missense probably damaging 1.00
R5187:Ermap UTSW 4 119,185,818 (GRCm38) critical splice acceptor site probably null
R6275:Ermap UTSW 4 119,178,550 (GRCm38) missense probably damaging 1.00
R6458:Ermap UTSW 4 119,178,140 (GRCm38) missense probably damaging 1.00
R6896:Ermap UTSW 4 119,187,131 (GRCm38) nonsense probably null
R6997:Ermap UTSW 4 119,178,613 (GRCm38) missense probably damaging 1.00
R7445:Ermap UTSW 4 119,188,710 (GRCm38) missense unknown
R8193:Ermap UTSW 4 119,183,943 (GRCm38) missense possibly damaging 0.87
R8711:Ermap UTSW 4 119,187,158 (GRCm38) missense probably damaging 1.00
R9026:Ermap UTSW 4 119,178,043 (GRCm38) missense probably damaging 1.00
R9210:Ermap UTSW 4 119,178,509 (GRCm38) nonsense probably null
R9301:Ermap UTSW 4 119,185,547 (GRCm38) missense probably damaging 0.98
R9335:Ermap UTSW 4 119,178,348 (GRCm38) missense probably damaging 1.00
Z1177:Ermap UTSW 4 119,185,561 (GRCm38) 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