Incidental Mutation 'IGL01862:Rhd'
ID178364
Institutional Source Australian Phenomics Network (link to record)
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 #IGL01862
Quality Score
Status
Chromosome4
Chromosomal Location134864536-134896172 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 134890339 bp
ZygosityHeterozygous
Amino Acid Change Isoleucine to Threonine at position 329 (I329T)
Ref Sequence ENSEMBL: ENSMUSP00000030627 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000030627]
Predicted Effect possibly damaging
Transcript: ENSMUST00000030627
AA Change: I329T

PolyPhen 2 Score 0.682 (Sensitivity: 0.86; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000030627
Gene: ENSMUSG00000028825
AA Change: I329T

DomainStartEndE-ValueType
Pfam:Ammonium_transp 21 400 1.2e-50 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000136163
Coding Region Coverage
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: 60 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4933406M09Rik G A 1: 134,390,611 V374I probably benign Het
Abca8b G T 11: 109,947,171 S1085* probably null Het
Akap9 T G 5: 3,951,705 S94A probably damaging Het
Akap9 T A 5: 4,065,856 N3425K probably damaging Het
Anapc7 T A 5: 122,440,119 I389N probably benign Het
Aqp7 G A 4: 41,045,321 R20* probably null Het
Cacna1h C T 17: 25,383,483 G1524R probably damaging Het
Cacng4 T C 11: 107,794,370 Y32C probably damaging Het
Ccdc130 G T 8: 84,260,534 probably benign Het
Cep120 A C 18: 53,714,767 S673R probably benign Het
Cep162 T C 9: 87,253,933 E19G possibly damaging Het
Cpxm2 C T 7: 132,059,811 V416I probably benign Het
Dapk1 A G 13: 60,726,610 T427A probably benign Het
Ecm1 A T 3: 95,734,273 D549E probably benign Het
Efemp1 T A 11: 28,921,428 N342K probably damaging Het
Erc2 T C 14: 28,271,569 probably benign Het
Fam160b2 C T 14: 70,587,690 R402H probably benign Het
Galnt13 T C 2: 54,857,914 V269A probably damaging Het
Gm6465 T G 5: 11,849,053 L171R probably damaging Het
Gpatch1 A G 7: 35,295,278 V521A probably benign Het
Heatr5b A T 17: 78,796,485 V1087E possibly damaging Het
Ikzf2 A T 1: 69,538,898 V484D probably damaging Het
Ints4 T A 7: 97,541,153 V953E probably damaging Het
Iqce T C 5: 140,699,725 D15G possibly damaging Het
Kif3a T A 11: 53,570,541 N4K possibly damaging Het
Lrch4 A T 5: 137,637,009 I254F probably damaging Het
Ly75 A T 2: 60,299,172 V1623D probably damaging Het
Mapt T A 11: 104,290,002 probably benign Het
Mast1 A T 8: 84,913,246 probably null Het
Mcc G T 18: 44,759,296 Q84K probably benign Het
Mtfr2 G A 10: 20,348,403 V28M probably benign Het
Myh8 T A 11: 67,289,694 Y585* probably null Het
Napsa T C 7: 44,582,493 V202A probably damaging Het
Nsd2 A G 5: 33,843,736 K199R probably null Het
Ntpcr C T 8: 125,736,098 A18V probably benign Het
Olfr1009 G T 2: 85,722,128 C241F probably damaging Het
Olfr117 G T 17: 37,659,477 N285K probably damaging Het
Olfr169 A T 16: 19,566,676 M69K probably damaging Het
Olfr689 T A 7: 105,314,232 I76N probably damaging Het
Olfr877 A G 9: 37,855,181 D121G probably damaging Het
Os9 A G 10: 127,099,704 V299A probably benign Het
Pcdhb7 T C 18: 37,343,862 S684P possibly damaging Het
Phf19 A C 2: 34,897,055 probably null Het
Pkd1l3 G A 8: 109,631,276 probably null Het
Pkhd1 A G 1: 20,358,910 I2422T probably damaging Het
Plxna2 T A 1: 194,643,950 V64E possibly damaging Het
Psme4 T A 11: 30,812,038 C459* probably null Het
Ptk6 T C 2: 181,199,640 S159G probably benign Het
Scfd1 A G 12: 51,445,711 Y601C probably damaging Het
Shroom3 T C 5: 92,962,289 S1753P probably damaging Het
Slc8a1 A C 17: 81,442,201 probably null Het
Spg7 T A 8: 123,076,930 L233Q probably damaging Het
Strip1 C A 3: 107,621,882 R353L probably damaging Het
Ubr1 T C 2: 120,934,342 N544D possibly damaging Het
Ubr4 A G 4: 139,477,158 T4794A possibly damaging Het
Usp24 A G 4: 106,408,898 probably benign Het
Vmn1r193 A T 13: 22,219,814 C3S probably benign Het
Zdhhc5 C T 2: 84,690,492 R447H probably benign Het
Zfp202 A G 9: 40,211,828 I629V probably benign Het
Zfp462 T A 4: 55,023,441 C990S probably damaging Het
Other mutations in Rhd
AlleleSourceChrCoordTypePredicted EffectPPH Score
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
R8072:Rhd UTSW 4 134884149 missense possibly damaging 0.51
Z1176:Rhd UTSW 4 134879975 missense probably benign 0.12
Z1176:Rhd UTSW 4 134884524 missense probably damaging 1.00
Posted On2014-05-07