Incidental Mutation 'IGL02445:Rhd'
ID293572
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 #IGL02445
Quality Score
Status
Chromosome4
Chromosomal Location134864536-134896172 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to T at 134884170 bp
ZygosityHeterozygous
Amino Acid Change Methionine to Leucine at position 214 (M214L)
Ref Sequence ENSEMBL: ENSMUSP00000030627 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000030627]
Predicted Effect possibly damaging
Transcript: ENSMUST00000030627
AA Change: M214L

PolyPhen 2 Score 0.949 (Sensitivity: 0.79; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000030627
Gene: ENSMUSG00000028825
AA Change: M214L

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: 46 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930432K21Rik T A 8: 84,159,508 M31K probably benign Het
Acacb C T 5: 114,245,137 T2127M probably damaging Het
Acp2 A G 2: 91,206,261 D175G possibly damaging Het
Adamts12 T C 15: 11,286,712 L801P probably damaging Het
Adcy10 T G 1: 165,570,744 V1470G possibly damaging Het
Ankar T G 1: 72,666,365 K829Q probably benign Het
Arhgef10l T C 4: 140,547,007 Y531C probably benign Het
Atm T C 9: 53,454,330 I2590V probably benign Het
Cblb T C 16: 52,166,305 L485P probably damaging Het
Col4a1 T C 8: 11,233,911 probably benign Het
Coprs T C 8: 13,885,797 K74R possibly damaging Het
Cul3 A T 1: 80,304,169 L31M possibly damaging Het
Cyp3a59 C A 5: 146,096,653 Q200K probably benign Het
Ddx19b C A 8: 111,008,824 V402L probably damaging Het
Disc1 T A 8: 125,148,403 probably benign Het
Dsg4 C T 18: 20,446,250 probably benign Het
Dspp A C 5: 104,177,097 Y442S probably damaging Het
Dtl C T 1: 191,558,060 probably null Het
Ezh1 A C 11: 101,210,687 V175G possibly damaging Het
Hepacam2 C T 6: 3,483,481 G100D probably damaging Het
Herc1 T A 9: 66,433,482 H1704Q possibly damaging Het
Kif26a T C 12: 112,173,743 S469P probably damaging Het
Lefty1 T C 1: 180,937,677 M270T probably benign Het
Nap1l3 A T X: 122,396,055 V322D probably damaging Het
Ndufv2 A G 17: 66,080,894 probably benign Het
Olfr1179 G A 2: 88,402,112 T274I possibly damaging Het
Olfr126 A T 17: 37,851,117 H175L probably damaging Het
Olfr922 T C 9: 38,815,605 I34T possibly damaging Het
Otol1 A T 3: 70,028,034 D453V probably damaging Het
Papolb G A 5: 142,528,725 H388Y probably benign Het
Ppp1r10 A G 17: 35,926,202 E128G probably damaging Het
Prss12 T A 3: 123,487,020 D451E probably damaging Het
Psmc1 T C 12: 100,114,828 probably benign Het
Pygo1 T A 9: 72,925,940 I10N probably benign Het
Rab31 C T 17: 65,722,003 probably null Het
Ret G A 6: 118,181,899 T184I probably damaging Het
Ripor3 C A 2: 167,992,762 probably benign Het
Sec16a A G 2: 26,422,040 L2036P probably benign Het
Slc26a3 C A 12: 31,457,052 D335E possibly damaging Het
Ssfa2 G A 2: 79,657,498 E642K probably damaging Het
Taf6 A G 5: 138,184,494 probably benign Het
Tnk2 T C 16: 32,675,590 V442A probably benign Het
Virma A G 4: 11,527,029 M1143V probably damaging Het
Vmn2r77 A T 7: 86,803,640 R522* probably null Het
Vmn2r-ps129 A G 17: 23,008,419 noncoding transcript Het
Zfp473 A G 7: 44,733,683 C408R probably damaging 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
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 On2015-04-16