Incidental Mutation 'IGL00916:Mreg'
ID26629
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Mreg
Ensembl Gene ENSMUSG00000039395
Gene Namemelanoregulin
Synonymsdsu, Wdt2, LOC381269
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL00916
Quality Score
Status
Chromosome1
Chromosomal Location72159442-72212307 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to A at 72164132 bp
ZygosityHeterozygous
Amino Acid Change Threonine to Serine at position 96 (T96S)
Ref Sequence ENSEMBL: ENSMUSP00000041878 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000048860]
Predicted Effect probably benign
Transcript: ENSMUST00000048860
AA Change: T96S

PolyPhen 2 Score 0.033 (Sensitivity: 0.95; Specificity: 0.82)
SMART Domains Protein: ENSMUSP00000041878
Gene: ENSMUSG00000039395
AA Change: T96S

DomainStartEndE-ValueType
low complexity region 7 26 N/A INTRINSIC
Pfam:MREG 44 192 5.2e-74 PFAM
Coding Region Coverage
Validation Efficiency
MGI Phenotype PHENOTYPE: A spontaneous suppressor mutation restores normal melanocyte morphology and therefore coat color in mutations producing coat color dilution. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 32 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aass T A 6: 23,075,852 Q762L probably benign Het
Aldh1a1 T C 19: 20,619,997 V114A probably benign Het
Ano4 T C 10: 88,998,098 I459V probably benign Het
Atad5 C T 11: 80,119,000 P1199S probably damaging Het
Bmp10 T C 6: 87,429,160 F43S possibly damaging Het
Cd96 T C 16: 46,041,312 E505G probably benign Het
D17Wsu92e A G 17: 27,767,919 Y278H probably damaging Het
Eapp T C 12: 54,692,808 T75A possibly damaging Het
Emilin1 T C 5: 30,913,902 Y10H probably damaging Het
Ercc6 A G 14: 32,562,655 probably benign Het
Gucy2e T C 11: 69,223,097 I1089V possibly damaging Het
H6pd C A 4: 149,994,468 probably null Het
Igsf10 A T 3: 59,331,127 F544L probably damaging Het
Il23r T C 6: 67,473,931 Y188C probably damaging Het
Inpp5j T C 11: 3,502,389 E287G probably damaging Het
Lrp6 T C 6: 134,484,289 D735G probably damaging Het
Mast2 A T 4: 116,327,633 M240K possibly damaging Het
Mta2 A T 19: 8,947,101 M220L probably benign Het
Mycbp2 A G 14: 103,291,283 probably benign Het
Naip2 T A 13: 100,161,431 N699I probably damaging Het
Ncapg T G 5: 45,671,192 I95S probably benign Het
Ndufa13 A G 8: 69,894,419 probably benign Het
Nol10 T A 12: 17,361,129 probably benign Het
Parp8 T A 13: 116,927,323 I85F probably damaging Het
Rgs2 T A 1: 144,002,229 I78F probably damaging Het
Rpia C T 6: 70,775,102 probably benign Het
Sec63 T C 10: 42,812,457 S488P possibly damaging Het
Tfcp2 T G 15: 100,520,678 H201P probably damaging Het
Tnfaip2 T G 12: 111,453,549 I705R probably damaging Het
Ttf1 A G 2: 29,070,042 N554S probably benign Het
Ulk1 A G 5: 110,793,011 S351P probably damaging Het
Zp2 T A 7: 120,138,174 N264Y probably damaging Het
Other mutations in Mreg
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01475:Mreg APN 1 72164166 splice site probably benign
IGL02473:Mreg APN 1 72162336 missense probably damaging 1.00
R0044:Mreg UTSW 1 72162375 missense probably damaging 1.00
R1635:Mreg UTSW 1 72192197 missense probably benign 0.00
R2281:Mreg UTSW 1 72192064 missense probably damaging 0.98
R4880:Mreg UTSW 1 72162336 missense probably damaging 1.00
R5343:Mreg UTSW 1 72160958 missense probably damaging 1.00
R5723:Mreg UTSW 1 72162368 missense probably damaging 1.00
R5945:Mreg UTSW 1 72192200 missense probably benign 0.00
R7673:Mreg UTSW 1 72160964 missense probably benign 0.00
Posted On2013-04-17