Incidental Mutation 'IGL01081:Rhag'
ID53024
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Rhag
Ensembl Gene ENSMUSG00000023926
Gene NameRhesus blood group-associated A glycoprotein
SynonymsRh50, CD241, Rh50A
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.082) question?
Stock #IGL01081
Quality Score
Status
Chromosome17
Chromosomal Location40811126-40840754 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 40811287 bp
ZygosityHeterozygous
Amino Acid Change Serine to Proline at position 38 (S38P)
Ref Sequence ENSEMBL: ENSMUSP00000024721 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000024721]
Predicted Effect possibly damaging
Transcript: ENSMUST00000024721
AA Change: S38P

PolyPhen 2 Score 0.734 (Sensitivity: 0.85; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000024721
Gene: ENSMUSG00000023926
AA Change: S38P

DomainStartEndE-ValueType
Pfam:Ammonium_transp 43 412 1.5e-83 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000124399
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 erythrocyte-specific and is thought to be part of a membrane channel that transports ammonium and carbon dioxide across the blood cell membrane. The encoded protein appears to interact with Rh blood group antigens and Rh30 polypeptides. Defects in this gene are a cause of regulator type Rh-null hemolytic anemia (RHN), or Rh-deficiency syndrome.[provided by RefSeq, Mar 2009]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit decreased ammonium and methylammonium transport in red cell ghosts, reduced basal adhesion of red blood cells to endothelial cells, a slight increase in iron levels, and decreased transferrin levels in males. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 46 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acad8 A G 9: 26,990,594 L158P probably damaging Het
Aco1 A G 4: 40,197,576 Q860R probably benign Het
Actl11 A T 9: 107,928,982 Q168L possibly damaging Het
Adam26b T C 8: 43,519,938 I676V probably benign Het
Aldoart2 A C 12: 55,566,135 I282L probably benign Het
Capns1 G T 7: 30,190,140 S211R probably benign Het
Cps1 T C 1: 67,206,824 V1158A probably damaging Het
Cryl1 C T 14: 57,286,364 probably null Het
Cxcr5 A G 9: 44,514,310 probably benign Het
Dcaf13 A G 15: 39,118,806 K56E probably damaging Het
Dlx6 T G 6: 6,867,068 S85A probably damaging Het
Dsg2 C T 18: 20,589,942 probably benign Het
Dync1li1 T A 9: 114,720,597 S412T possibly damaging Het
Ebf3 C A 7: 137,225,896 probably benign Het
Fads3 T C 19: 10,053,002 I168T probably benign Het
Gm10295 G A 7: 71,350,548 P95S unknown Het
Gm43638 T C 5: 87,486,596 T51A probably damaging Het
Gm5114 G A 7: 39,410,647 probably benign Het
Gucy2c G A 6: 136,702,739 T974M probably damaging Het
Ighv1-19-1 T C 12: 114,708,638 probably benign Het
Kri1 A T 9: 21,280,427 L173Q probably damaging Het
Lztfl1 T C 9: 123,702,273 D210G probably benign Het
Morc2a T A 11: 3,688,149 N958K probably damaging Het
Msl3l2 G A 10: 56,115,925 A249T probably benign Het
Nlrp4a A G 7: 26,449,829 E287G probably benign Het
Nlrp9a A T 7: 26,558,094 N290I possibly damaging Het
Olfr1040 C T 2: 86,146,611 G41D probably benign Het
Olfr1367 T G 13: 21,347,015 L29R probably damaging Het
Olfr1509 A G 14: 52,451,027 T205A probably benign Het
Pcsk7 A G 9: 45,928,707 D731G probably benign Het
Plppr5 T A 3: 117,686,649 probably benign Het
Podxl T C 6: 31,528,704 T135A possibly damaging Het
Pole T G 5: 110,337,240 C407G possibly damaging Het
Prl C A 13: 27,065,041 N224K possibly damaging Het
Prnp A T 2: 131,936,420 probably benign Het
Proser2 A G 2: 6,100,338 *472R probably null Het
Rnf146 T C 10: 29,347,860 D10G probably damaging Het
Rps3a1 T C 3: 86,141,778 D29G probably benign Het
Sv2a A T 3: 96,189,696 I446F probably benign Het
Tbc1d30 C A 10: 121,267,414 R571L probably damaging Het
Tfrc T A 16: 32,624,828 probably null Het
Tnfaip1 G A 11: 78,528,303 P156S probably damaging Het
Vmn1r226 T C 17: 20,687,904 S133P probably damaging Het
Wnt9b C T 11: 103,732,010 R189K probably damaging Het
Ythdc2 A G 18: 44,850,659 H564R probably benign Het
Zfp442 C A 2: 150,409,347 E211* probably null Het
Other mutations in Rhag
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01463:Rhag APN 17 40828755 missense probably damaging 1.00
IGL01954:Rhag APN 17 40828450 missense possibly damaging 0.88
IGL03000:Rhag APN 17 40828522 missense probably benign 0.00
R0385:Rhag UTSW 17 40834727 missense probably damaging 0.97
R0570:Rhag UTSW 17 40828913 splice site probably benign
R0811:Rhag UTSW 17 40831578 missense possibly damaging 0.74
R0812:Rhag UTSW 17 40831578 missense possibly damaging 0.74
R1655:Rhag UTSW 17 40831596 missense probably damaging 0.98
R2376:Rhag UTSW 17 40811363 critical splice donor site probably null
R2698:Rhag UTSW 17 40836476 missense probably damaging 0.99
R4207:Rhag UTSW 17 40831653 missense probably damaging 0.99
R4695:Rhag UTSW 17 40836467 missense probably damaging 0.99
R4705:Rhag UTSW 17 40836438 missense probably benign 0.35
R4729:Rhag UTSW 17 40828401 missense probably damaging 1.00
R4790:Rhag UTSW 17 40831290 missense probably benign 0.23
R4895:Rhag UTSW 17 40811351 missense probably benign
R5224:Rhag UTSW 17 40828504 missense probably damaging 0.98
R5685:Rhag UTSW 17 40831331 missense possibly damaging 0.88
R7403:Rhag UTSW 17 40834658 missense probably damaging 1.00
R7407:Rhag UTSW 17 40831334 missense possibly damaging 0.56
R7553:Rhag UTSW 17 40828395 missense probably damaging 1.00
X0064:Rhag UTSW 17 40833505 missense probably damaging 0.97
Posted On2013-06-21