Incidental Mutation 'R1655:Rhag'
ID 189063
Institutional Source Beutler Lab
Gene Symbol Rhag
Ensembl Gene ENSMUSG00000023926
Gene Name Rhesus blood group-associated A glycoprotein
Synonyms Rh50, CD241, Rh50A
MMRRC Submission 039691-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.089) question?
Stock # R1655 (G1)
Quality Score 225
Status Not validated
Chromosome 17
Chromosomal Location 40811126-40840754 bp(+) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) T to C at 40831596 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Phenylalanine to Leucine at position 231 (F231L)
Ref Sequence ENSEMBL: ENSMUSP00000024721 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000024721]
AlphaFold Q9QUT0
Predicted Effect probably damaging
Transcript: ENSMUST00000024721
AA Change: F231L

PolyPhen 2 Score 0.978 (Sensitivity: 0.76; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000024721
Gene: ENSMUSG00000023926
AA Change: F231L

Pfam:Ammonium_transp 43 412 1.5e-83 PFAM
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.3%
  • 10x: 96.0%
  • 20x: 91.3%
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: 73 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A730061H03Rik A T 14: 55,560,333 (GRCm38) probably benign Het
Abca1 C T 4: 53,050,964 (GRCm38) A1582T probably benign Het
Acot8 A T 2: 164,803,108 (GRCm38) S52T probably benign Het
Atcay C T 10: 81,213,397 (GRCm38) V124M probably damaging Het
Cep295 C T 9: 15,340,883 (GRCm38) E397K probably damaging Het
Cfap46 A T 7: 139,642,520 (GRCm38) Y1180* probably null Het
Clptm1 T A 7: 19,645,867 (GRCm38) H148L probably benign Het
Clstn3 A G 6: 124,437,427 (GRCm38) L743P probably damaging Het
Crtc3 A T 7: 80,598,776 (GRCm38) M313K possibly damaging Het
Csgalnact1 T A 8: 68,373,689 (GRCm38) I326F possibly damaging Het
Dennd6b G T 15: 89,196,340 (GRCm38) T19K unknown Het
Disp1 A T 1: 183,087,004 (GRCm38) I1284N probably benign Het
Dnah2 A G 11: 69,473,854 (GRCm38) Y1992H probably damaging Het
Dnah6 C T 6: 73,205,732 (GRCm38) V205I possibly damaging Het
Dst G T 1: 34,282,576 (GRCm38) G4391* probably null Het
Dytn A G 1: 63,661,198 (GRCm38) S258P probably damaging Het
Emilin3 T A 2: 160,910,866 (GRCm38) probably null Het
Ermn C T 2: 58,052,584 (GRCm38) V45I probably benign Het
Fat4 T C 3: 38,957,318 (GRCm38) V2189A probably damaging Het
Fcgbpl1 A T 7: 28,147,110 (GRCm38) N1076Y probably damaging Het
Filip1l T C 16: 57,571,851 (GRCm38) I934T probably damaging Het
Gbp9 T A 5: 105,081,692 (GRCm38) Q472L possibly damaging Het
Gimap5 G T 6: 48,753,176 (GRCm38) E227* probably null Het
Gsdmc C T 15: 63,780,043 (GRCm38) V240M probably benign Het
H2-Q4 G T 17: 35,382,905 (GRCm38) V248F probably damaging Het
Helz2 T C 2: 181,234,147 (GRCm38) E1518G probably damaging Het
Hmcn1 A G 1: 150,630,333 (GRCm38) V3814A probably benign Het
Hoatz A T 9: 51,083,621 (GRCm38) I136N probably damaging Het
Ifna7 A G 4: 88,816,660 (GRCm38) T145A probably benign Het
Itgam T A 7: 128,115,163 (GRCm38) M947K probably benign Het
Itpr2 T G 6: 146,376,148 (GRCm38) N608H probably damaging Het
Klra2 T A 6: 131,220,211 (GRCm38) N242I probably damaging Het
Lonrf2 A T 1: 38,811,824 (GRCm38) L219Q probably damaging Het
Ly6c2 T C 15: 75,108,563 (GRCm38) I126V probably benign Het
Mr1 G A 1: 155,132,455 (GRCm38) T258M probably benign Het
Mrps35 T G 6: 147,060,228 (GRCm38) D200E possibly damaging Het
Nbeal2 A C 9: 110,632,872 (GRCm38) S1506A probably damaging Het
Ncoa7 T C 10: 30,698,245 (GRCm38) probably null Het
Nlrp4a A T 7: 26,449,651 (GRCm38) I228F possibly damaging Het
Or13p5 A G 4: 118,734,999 (GRCm38) S157G probably benign Het
Or5c1 A G 2: 37,331,939 (GRCm38) Y64C probably damaging Het
Or5p59 A T 7: 108,103,464 (GRCm38) I52F probably damaging Het
Or8k3 A G 2: 86,228,080 (GRCm38) V297A possibly damaging Het
Paxx T C 2: 25,460,316 (GRCm38) E93G probably damaging Het
Per2 C A 1: 91,448,768 (GRCm38) G128W probably damaging Het
Piezo1 A G 8: 122,496,822 (GRCm38) I796T probably benign Het
Pkhd1 A G 1: 20,584,129 (GRCm38) S235P probably damaging Het
Pole T A 5: 110,335,922 (GRCm38) F259Y probably damaging Het
Pus7 T A 5: 23,747,800 (GRCm38) K512* probably null Het
Ralyl A T 3: 14,107,236 (GRCm38) Y55F probably damaging Het
Rgs14 T A 13: 55,383,534 (GRCm38) M451K probably benign Het
Ric8a T C 7: 140,860,895 (GRCm38) C94R probably benign Het
Rictor T A 15: 6,772,212 (GRCm38) D460E probably benign Het
Rpn1 T C 6: 88,100,944 (GRCm38) V454A possibly damaging Het
Sacs A G 14: 61,191,782 (GRCm38) D427G probably benign Het
Scai A T 2: 39,080,117 (GRCm38) V545D possibly damaging Het
Serpinb3a A G 1: 107,046,212 (GRCm38) V323A probably damaging Het
Slc13a5 C A 11: 72,257,378 (GRCm38) C277F probably benign Het
Slc15a1 A T 14: 121,465,899 (GRCm38) Y557N probably benign Het
Slc34a2 T C 5: 53,069,419 (GRCm38) V628A probably benign Het
Slc8a2 G T 7: 16,141,135 (GRCm38) G436V probably damaging Het
Sphkap G A 1: 83,277,515 (GRCm38) R838* probably null Het
Supt5 T C 7: 28,330,024 (GRCm38) I103V probably benign Het
Tdrd1 T A 19: 56,843,216 (GRCm38) Y346* probably null Het
Tg T G 15: 66,828,568 (GRCm38) probably null Het
Top1 T A 2: 160,703,696 (GRCm38) probably null Het
Trmt12 T C 15: 58,873,227 (GRCm38) L158P probably damaging Het
Tssk4 A G 14: 55,651,695 (GRCm38) N226S probably damaging Het
Unc80 G T 1: 66,672,756 (GRCm38) V2746F possibly damaging Het
Usp34 T A 11: 23,375,051 (GRCm38) V999E probably benign Het
Virma T C 4: 11,494,786 (GRCm38) V29A probably damaging Het
Zfp40 A T 17: 23,177,266 (GRCm38) Y48N probably benign Het
Zfp609 A G 9: 65,703,554 (GRCm38) V709A possibly damaging Het
Other mutations in Rhag
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01081:Rhag APN 17 40,811,287 (GRCm38) missense possibly damaging 0.73
IGL01463:Rhag APN 17 40,828,755 (GRCm38) missense probably damaging 1.00
IGL01954:Rhag APN 17 40,828,450 (GRCm38) missense possibly damaging 0.88
IGL03000:Rhag APN 17 40,828,522 (GRCm38) missense probably benign 0.00
R0385:Rhag UTSW 17 40,834,727 (GRCm38) missense probably damaging 0.97
R0570:Rhag UTSW 17 40,828,913 (GRCm38) splice site probably benign
R0811:Rhag UTSW 17 40,831,578 (GRCm38) missense possibly damaging 0.74
R0812:Rhag UTSW 17 40,831,578 (GRCm38) missense possibly damaging 0.74
R2376:Rhag UTSW 17 40,811,363 (GRCm38) critical splice donor site probably null
R2698:Rhag UTSW 17 40,836,476 (GRCm38) missense probably damaging 0.99
R4207:Rhag UTSW 17 40,831,653 (GRCm38) missense probably damaging 0.99
R4695:Rhag UTSW 17 40,836,467 (GRCm38) missense probably damaging 0.99
R4705:Rhag UTSW 17 40,836,438 (GRCm38) missense probably benign 0.35
R4729:Rhag UTSW 17 40,828,401 (GRCm38) missense probably damaging 1.00
R4790:Rhag UTSW 17 40,831,290 (GRCm38) missense probably benign 0.23
R4895:Rhag UTSW 17 40,811,351 (GRCm38) missense probably benign
R5224:Rhag UTSW 17 40,828,504 (GRCm38) missense probably damaging 0.98
R5685:Rhag UTSW 17 40,831,331 (GRCm38) missense possibly damaging 0.88
R7403:Rhag UTSW 17 40,834,658 (GRCm38) missense probably damaging 1.00
R7407:Rhag UTSW 17 40,831,334 (GRCm38) missense possibly damaging 0.56
R7553:Rhag UTSW 17 40,828,395 (GRCm38) missense probably damaging 1.00
R7884:Rhag UTSW 17 40,831,645 (GRCm38) missense probably benign 0.06
R8056:Rhag UTSW 17 40,828,788 (GRCm38) missense probably damaging 1.00
R9135:Rhag UTSW 17 40,828,411 (GRCm38) missense probably damaging 1.00
R9229:Rhag UTSW 17 40,831,190 (GRCm38) missense probably damaging 1.00
R9360:Rhag UTSW 17 40,831,657 (GRCm38) missense possibly damaging 0.82
R9777:Rhag UTSW 17 40,828,525 (GRCm38) missense probably benign 0.02
X0064:Rhag UTSW 17 40,833,505 (GRCm38) missense probably damaging 0.97
Predicted Primers PCR Primer

Sequencing Primer
Posted On 2014-05-09