Incidental Mutation 'R8072:Rhd'
ID620282
Institutional Source Beutler Lab
Gene Symbol Rhd
Ensembl Gene ENSMUSG00000028825
Gene NameRh blood group, D antigen
SynonymsRh, Rhl1, Rhced
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #R8072 (G1)
Quality Score225.009
Status Not validated
Chromosome4
Chromosomal Location134864536-134896172 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 134884149 bp
ZygosityHeterozygous
Amino Acid Change Threonine to Alanine at position 207 (T207A)
Ref Sequence ENSEMBL: ENSMUSP00000030627 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000030627]
Predicted Effect possibly damaging
Transcript: ENSMUST00000030627
AA Change: T207A

PolyPhen 2 Score 0.513 (Sensitivity: 0.88; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000030627
Gene: ENSMUSG00000028825
AA Change: T207A

DomainStartEndE-ValueType
Pfam:Ammonium_transp 21 400 1.2e-50 PFAM
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.3%
  • 20x: 97.5%
Validation Efficiency
MGI Phenotype 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, and a slight increase in iron levels. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 47 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca13 T C 11: 9,294,574 S2146P probably benign Het
Acad9 G A 3: 36,075,255 V160I probably benign Het
Ace T C 11: 105,972,959 V411A probably damaging Het
Ankrd66 T C 17: 43,543,635 E2G possibly damaging Het
Apol6 A T 15: 77,051,103 T191S probably benign Het
Arhgef17 T A 7: 100,881,797 T352S probably benign Het
Atad2 C T 15: 58,099,978 R1081Q possibly damaging Het
Atg3 G T 16: 45,187,685 V297F probably damaging Het
Atp9b A C 18: 80,765,061 S663A Het
Col10a1 G T 10: 34,390,667 V16F unknown Het
Col3a1 G A 1: 45,321,574 V55I unknown Het
Ctns T C 11: 73,191,746 T53A probably benign Het
Cyp2b23 A T 7: 26,666,006 I468N probably damaging Het
Dcbld2 G A 16: 58,463,097 W565* probably null Het
Esco2 A T 14: 65,832,681 N16K probably benign Het
Fggy A G 4: 95,844,157 N462D possibly damaging Het
Fhod3 TGAGGAGGAGGAGGAGGA TGAGGAGGAGGAGGA 18: 25,020,665 probably benign Het
Gm4846 T C 1: 166,494,672 T109A probably benign Het
H2-M11 G T 17: 36,548,134 V189L probably benign Het
Hmcn1 T A 1: 150,656,505 T3175S possibly damaging Het
Hook2 G A 8: 84,994,491 V184M probably benign Het
Hspa4l A T 3: 40,786,746 D730V probably damaging Het
Igkv4-68 C T 6: 69,305,129 M19I probably benign Het
Igsf9b C A 9: 27,317,364 T140N possibly damaging Het
Kcnj1 G A 9: 32,397,297 R339Q probably damaging Het
Lcn8 T G 2: 25,655,172 L118W probably damaging Het
Lin28a A G 4: 134,018,142 F47L possibly damaging Het
Loxl4 T C 19: 42,607,582 E144G probably damaging Het
Mmp1a TG TGG 9: 7,465,083 probably null Het
Mrgprb1 C A 7: 48,448,147 E6* probably null Het
Mthfsd A C 8: 121,098,816 Y339D probably damaging Het
Mup11 A T 4: 60,659,778 F153L probably damaging Het
Pcdhac2 G A 18: 37,145,664 V566M probably benign Het
Plpp7 G T 2: 32,096,109 A100S probably benign Het
Prg4 T C 1: 150,456,023 T300A possibly damaging Het
Ptprd A G 4: 76,086,036 F161L probably benign Het
Pwp2 G A 10: 78,172,096 A875V possibly damaging Het
Sh2d3c C T 2: 32,753,138 R778C probably damaging Het
Slc34a3 A C 2: 25,229,277 V527G probably benign Het
Smad2 T C 18: 76,286,951 probably null Het
Sp110 GTACT GTACTACT 1: 85,587,486 probably benign Het
Spata21 C T 4: 141,112,006 Q611* probably null Het
Taf4b A G 18: 14,821,528 T554A probably benign Het
Tial1 T C 7: 128,442,470 T107A unknown Het
Ubxn6 C A 17: 56,073,195 R42L probably benign Het
Vmn2r90 A T 17: 17,726,880 N473I probably damaging Het
Ythdc1 T A 5: 86,821,274 Y351* probably null Het
Other mutations in Rhd
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01862:Rhd APN 4 134890339 missense possibly damaging 0.68
IGL02393:Rhd APN 4 134884095 missense probably benign 0.00
IGL02445:Rhd APN 4 134884170 missense possibly damaging 0.95
IGL02863:Rhd APN 4 134885310 missense probably damaging 0.99
R0762:Rhd UTSW 4 134876301 splice site probably benign
R5372:Rhd UTSW 4 134884632 missense possibly damaging 0.83
R5461:Rhd UTSW 4 134884617 missense probably damaging 1.00
R5938:Rhd UTSW 4 134895976 missense probably benign 0.06
R6378:Rhd UTSW 4 134894385 missense possibly damaging 0.95
R7564:Rhd UTSW 4 134876459 missense probably damaging 1.00
R7685:Rhd UTSW 4 134884509 splice site probably null
Z1176:Rhd UTSW 4 134879975 missense probably benign 0.12
Z1176:Rhd UTSW 4 134884524 missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- CTAGGCGGGATATACGGAGTTC -3'
(R):5'- TGACACTAGTCTTTGACAGCC -3'

Sequencing Primer
(F):5'- GGATATACGGAGTTCAAGTCCCAC -3'
(R):5'- CTAGTCTTTGACAGCCAAATGC -3'
Posted On2020-01-23