Incidental Mutation 'IGL00916:Mreg'
ID 26629
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Mreg
Ensembl Gene ENSMUSG00000039395
Gene Name melanoregulin
Synonyms LOC381269, dsu, Wdt2
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # IGL00916
Quality Score
Status
Chromosome 1
Chromosomal Location 72198601-72251466 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 72203291 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Serine at position 96 (T96S)
Ref Sequence ENSEMBL: ENSMUSP00000041878 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000048860]
AlphaFold Q6NVG5
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: 23,075,851 (GRCm39) Q762L probably benign Het
Aldh1a1 T C 19: 20,597,361 (GRCm39) V114A probably benign Het
Ano4 T C 10: 88,833,960 (GRCm39) I459V probably benign Het
Atad5 C T 11: 80,009,826 (GRCm39) P1199S probably damaging Het
Bmp10 T C 6: 87,406,142 (GRCm39) F43S possibly damaging Het
Cd96 T C 16: 45,861,675 (GRCm39) E505G probably benign Het
Eapp T C 12: 54,739,593 (GRCm39) T75A possibly damaging Het
Emilin1 T C 5: 31,071,246 (GRCm39) Y10H probably damaging Het
Ercc6 A G 14: 32,284,612 (GRCm39) probably benign Het
Gucy2e T C 11: 69,113,923 (GRCm39) I1089V possibly damaging Het
H6pd C A 4: 150,078,925 (GRCm39) probably null Het
Igsf10 A T 3: 59,238,548 (GRCm39) F544L probably damaging Het
Il23r T C 6: 67,450,915 (GRCm39) Y188C probably damaging Het
Ilrun A G 17: 27,986,893 (GRCm39) Y278H probably damaging Het
Inpp5j T C 11: 3,452,389 (GRCm39) E287G probably damaging Het
Lrp6 T C 6: 134,461,252 (GRCm39) D735G probably damaging Het
Mast2 A T 4: 116,184,830 (GRCm39) M240K possibly damaging Het
Mta2 A T 19: 8,924,465 (GRCm39) M220L probably benign Het
Mycbp2 A G 14: 103,528,719 (GRCm39) probably benign Het
Naip2 T A 13: 100,297,939 (GRCm39) N699I probably damaging Het
Ncapg T G 5: 45,828,534 (GRCm39) I95S probably benign Het
Ndufa13 A G 8: 70,347,069 (GRCm39) probably benign Het
Nol10 T A 12: 17,411,130 (GRCm39) probably benign Het
Parp8 T A 13: 117,063,859 (GRCm39) I85F probably damaging Het
Rgs2 T A 1: 143,877,967 (GRCm39) I78F probably damaging Het
Rpia C T 6: 70,752,086 (GRCm39) probably benign Het
Sec63 T C 10: 42,688,453 (GRCm39) S488P possibly damaging Het
Tfcp2 T G 15: 100,418,559 (GRCm39) H201P probably damaging Het
Tnfaip2 T G 12: 111,419,983 (GRCm39) I705R probably damaging Het
Ttf1 A G 2: 28,960,054 (GRCm39) N554S probably benign Het
Ulk1 A G 5: 110,940,877 (GRCm39) S351P probably damaging Het
Zp2 T A 7: 119,737,397 (GRCm39) N264Y probably damaging Het
Other mutations in Mreg
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01475:Mreg APN 1 72,203,325 (GRCm39) splice site probably benign
IGL02473:Mreg APN 1 72,201,495 (GRCm39) missense probably damaging 1.00
R0044:Mreg UTSW 1 72,201,534 (GRCm39) missense probably damaging 1.00
R1635:Mreg UTSW 1 72,231,356 (GRCm39) missense probably benign 0.00
R2281:Mreg UTSW 1 72,231,223 (GRCm39) missense probably damaging 0.98
R4880:Mreg UTSW 1 72,201,495 (GRCm39) missense probably damaging 1.00
R5343:Mreg UTSW 1 72,200,117 (GRCm39) missense probably damaging 1.00
R5723:Mreg UTSW 1 72,201,527 (GRCm39) missense probably damaging 1.00
R5945:Mreg UTSW 1 72,231,359 (GRCm39) missense probably benign 0.00
R7673:Mreg UTSW 1 72,200,123 (GRCm39) missense probably benign 0.00
R8327:Mreg UTSW 1 72,203,257 (GRCm39) missense possibly damaging 0.91
R9128:Mreg UTSW 1 72,231,216 (GRCm39) missense probably benign 0.00
Posted On 2013-04-17