Incidental Mutation 'IGL01671:Rhcg'
ID103489
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Rhcg
Ensembl Gene ENSMUSG00000030549
Gene NameRhesus blood group-associated C glycoprotein
Synonyms
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.083) question?
Stock #IGL01671
Quality Score
Status
Chromosome7
Chromosomal Location79593363-79617657 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to C at 79598551 bp
ZygosityHeterozygous
Amino Acid Change Isoleucine to Serine at position 435 (I435S)
Ref Sequence ENSEMBL: ENSMUSP00000032766 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000032766]
Predicted Effect probably benign
Transcript: ENSMUST00000032766
AA Change: I435S

PolyPhen 2 Score 0.129 (Sensitivity: 0.93; Specificity: 0.86)
SMART Domains Protein: ENSMUSP00000032766
Gene: ENSMUSG00000030549
AA Change: I435S

DomainStartEndE-ValueType
Pfam:Ammonium_transp 45 436 1.8e-81 PFAM
low complexity region 469 497 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000172788
Predicted Effect noncoding transcript
Transcript: ENSMUST00000206746
Coding Region Coverage
Validation Efficiency
MGI Phenotype PHENOTYPE: Mice homozygous for a null allele have reduced ability to excrete ammonium in their urine and have reduced male fertility. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 24 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Cdc7 C T 5: 106,983,245 P529S probably damaging Het
Defb45 T C 2: 152,593,411 K26E probably benign Het
Dnajb8 T C 6: 88,222,920 L146S probably benign Het
Egln1 T C 8: 124,910,715 D399G probably benign Het
Ephb1 A T 9: 101,996,787 C563S probably damaging Het
Gad2 T A 2: 22,623,699 Y49* probably null Het
Gga2 A G 7: 121,994,856 S470P probably benign Het
Gm21276 G T 7: 38,764,727 noncoding transcript Het
Gm3115 G A 14: 4,084,189 C9Y probably benign Het
H2-M1 T C 17: 36,670,438 E235G probably damaging Het
Hfe2 T C 3: 96,528,491 V355A probably damaging Het
Hsp90b1 C T 10: 86,704,325 G41S probably benign Het
Mccc1 T C 3: 35,964,460 D575G probably benign Het
Metap2 T C 10: 93,871,478 probably benign Het
Myh7 T C 14: 54,972,924 T1775A probably damaging Het
Olfr1469 T A 19: 13,410,891 F107L probably benign Het
Olfr170 A G 16: 19,605,921 I249T probably benign Het
Olfr935 A G 9: 38,994,853 V194A probably benign Het
Pak7 T C 2: 136,116,373 D265G possibly damaging Het
Pex1 A G 5: 3,624,088 I793V probably benign Het
Prkdc A G 16: 15,667,745 I479V possibly damaging Het
Slc9c1 A T 16: 45,560,315 T535S probably benign Het
Stab2 T C 10: 86,969,277 D279G possibly damaging Het
Wdr83 T C 8: 85,075,819 probably benign Het
Other mutations in Rhcg
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01290:Rhcg APN 7 79598594 missense probably benign 0.03
IGL01821:Rhcg APN 7 79598598 missense probably benign 0.19
R0591:Rhcg UTSW 7 79594772 splice site probably benign
R0662:Rhcg UTSW 7 79599729 missense probably damaging 1.00
R1372:Rhcg UTSW 7 79599374 missense probably benign 0.00
R3978:Rhcg UTSW 7 79617399 missense probably benign 0.00
R4625:Rhcg UTSW 7 79601604 missense probably damaging 1.00
R5729:Rhcg UTSW 7 79600623 missense probably damaging 1.00
R5997:Rhcg UTSW 7 79600514 nonsense probably null
R6414:Rhcg UTSW 7 79598968 critical splice donor site probably null
R6964:Rhcg UTSW 7 79600531 missense probably benign 0.44
R7089:Rhcg UTSW 7 79599468 missense probably damaging 0.99
R7161:Rhcg UTSW 7 79617441 missense probably damaging 1.00
Posted On2014-01-21