Incidental Mutation 'IGL00539:Ermap'
ID6589
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Ermap
Ensembl Gene ENSMUSG00000028644
Gene Nameerythroblast membrane-associated protein
Synonyms
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL00539
Quality Score
Status
Chromosome4
Chromosomal Location119175457-119190011 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 119183917 bp
ZygosityHeterozygous
Amino Acid Change Serine to Proline at position 299 (S299P)
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: S299P

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000030396
Gene: ENSMUSG00000028644
AA Change: S299P

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: S299P

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000123426
Gene: ENSMUSG00000028644
AA Change: S299P

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
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: 26 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ahnak C A 19: 9,007,908 D2185E possibly damaging Het
Camk2b A G 11: 5,972,310 S560P probably damaging Het
Cdh13 C A 8: 119,312,506 N562K possibly damaging Het
Cdhr4 A G 9: 107,999,545 Y771C probably damaging Het
Fgd3 A G 13: 49,275,643 probably benign Het
Fpr-rs4 T A 17: 18,021,926 L65Q probably damaging Het
Hsph1 C T 5: 149,618,789 R723H possibly damaging Het
Iqcb1 A G 16: 36,858,511 K396E probably damaging Het
Kif21a T C 15: 90,937,301 T1424A probably damaging Het
Mpdz T C 4: 81,361,351 S700G possibly damaging Het
Mta3 G A 17: 83,762,983 R39Q probably benign Het
Muc4 A T 16: 32,750,910 T263S possibly damaging Het
Ncan G A 8: 70,115,271 P64S probably benign Het
Pisd T C 5: 32,738,412 I441V probably benign Het
Pla2g4f T C 2: 120,302,738 H660R possibly damaging Het
Polq A G 16: 37,060,569 T753A probably damaging Het
Ptchd4 C T 17: 42,316,926 Q93* probably null Het
Sfpq T C 4: 127,023,688 V437A possibly damaging Het
Slc18b1 G A 10: 23,824,761 probably null Het
Taf1c C T 8: 119,601,328 V277I possibly damaging Het
Tcf20 T A 15: 82,852,756 Q1498L probably benign Het
Tet1 C A 10: 62,814,497 C1644F probably damaging Het
Trmt5 T C 12: 73,284,919 E121G possibly damaging Het
Wapl A G 14: 34,695,008 D525G probably damaging Het
Ylpm1 A G 12: 85,028,954 T360A possibly damaging Het
Zfp292 G A 4: 34,808,790 P1418L probably damaging Het
Other mutations in Ermap
AlleleSourceChrCoordTypePredicted EffectPPH Score
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
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
Z1177:Ermap UTSW 4 119185561 missense probably benign 0.00
Posted On2012-04-20