Incidental Mutation 'IGL02895:Znrf3'
ID363384
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Znrf3
Ensembl Gene ENSMUSG00000041961
Gene Namezinc and ring finger 3
SynonymsLOC382477
Accession Numbers
Is this an essential gene? Essential (E-score: 1.000) question?
Stock #IGL02895
Quality Score
Status
Chromosome11
Chromosomal Location5276324-5444847 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 5289085 bp
ZygosityHeterozygous
Amino Acid Change Methionine to Valine at position 93 (M93V)
Ref Sequence ENSEMBL: ENSMUSP00000134698 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000109867] [ENSMUST00000143746] [ENSMUST00000172492]
Predicted Effect possibly damaging
Transcript: ENSMUST00000109867
AA Change: M189V

PolyPhen 2 Score 0.911 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000105493
Gene: ENSMUSG00000041961
AA Change: M189V

DomainStartEndE-ValueType
signal peptide 1 52 N/A INTRINSIC
PDB:4CDK|D 53 205 1e-103 PDB
transmembrane domain 218 235 N/A INTRINSIC
RING 290 330 1.56e-6 SMART
low complexity region 442 455 N/A INTRINSIC
low complexity region 545 567 N/A INTRINSIC
low complexity region 895 913 N/A INTRINSIC
Predicted Effect possibly damaging
Transcript: ENSMUST00000143746
AA Change: M189V

PolyPhen 2 Score 0.497 (Sensitivity: 0.88; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000122475
Gene: ENSMUSG00000041961
AA Change: M189V

DomainStartEndE-ValueType
signal peptide 1 52 N/A INTRINSIC
PDB:4CDK|D 53 205 1e-111 PDB
low complexity region 209 225 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000172492
AA Change: M93V

PolyPhen 2 Score 0.974 (Sensitivity: 0.76; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000134698
Gene: ENSMUSG00000041961
AA Change: M93V

DomainStartEndE-ValueType
PDB:4CDK|D 2 109 5e-70 PDB
transmembrane domain 122 139 N/A INTRINSIC
RING 194 234 1.56e-6 SMART
low complexity region 346 359 N/A INTRINSIC
low complexity region 449 471 N/A INTRINSIC
Coding Region Coverage
Validation Efficiency
MGI Phenotype PHENOTYPE: Mice homozygous for a targeted allele exhibit complete lethality around birth, aphakia, abnormal lens development and defective enural tube closure in some mice. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 19 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2410089E03Rik A G 15: 8,232,107 probably benign Het
Ahctf1 C T 1: 179,793,811 E130K probably damaging Het
Atf7ip C A 6: 136,560,688 S306R probably damaging Het
Cpd A G 11: 76,785,203 V1208A probably benign Het
Ctsl C T 13: 64,366,512 A195T probably damaging Het
Dennd2c T C 3: 103,137,203 Y367H possibly damaging Het
Endod1 T A 9: 14,356,870 T440S probably benign Het
Gm12695 T C 4: 96,723,949 R526G probably damaging Het
Ighv1-39 T C 12: 114,914,682 T90A probably damaging Het
Kdm2a G A 19: 4,362,902 R19C probably damaging Het
Klra1 C T 6: 130,375,240 E180K possibly damaging Het
Odam A G 5: 87,885,864 Q21R probably benign Het
Olfr1205 A G 2: 88,831,642 Y175C probably damaging Het
Olfr145 G A 9: 37,897,982 V193I probably benign Het
Plk1 A G 7: 122,169,166 E504G possibly damaging Het
Rtl3 T C X: 106,839,544 I37M possibly damaging Het
Srebf2 A G 15: 82,147,467 E22G possibly damaging Het
Tmem74b A G 2: 151,706,391 S13G probably benign Het
Utp14b T C 1: 78,664,607 V74A possibly damaging Het
Other mutations in Znrf3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00160:Znrf3 APN 11 5289039 missense probably damaging 1.00
IGL01387:Znrf3 APN 11 5338656 nonsense probably null
R0788:Znrf3 UTSW 11 5281320 missense probably benign 0.04
R1383:Znrf3 UTSW 11 5281994 missense probably damaging 0.96
R1544:Znrf3 UTSW 11 5289066 missense probably damaging 1.00
R1556:Znrf3 UTSW 11 5281347 missense probably benign 0.01
R1586:Znrf3 UTSW 11 5281477 missense probably damaging 1.00
R1852:Znrf3 UTSW 11 5287455 missense possibly damaging 0.94
R1864:Znrf3 UTSW 11 5283373 missense possibly damaging 0.95
R1927:Znrf3 UTSW 11 5281062 missense probably benign 0.28
R2353:Znrf3 UTSW 11 5281170 missense probably damaging 1.00
R2884:Znrf3 UTSW 11 5289693 missense probably damaging 1.00
R2885:Znrf3 UTSW 11 5289693 missense probably damaging 1.00
R4021:Znrf3 UTSW 11 5281278 missense possibly damaging 0.68
R4811:Znrf3 UTSW 11 5287420 missense probably benign 0.07
R4935:Znrf3 UTSW 11 5283422 missense probably damaging 1.00
R5218:Znrf3 UTSW 11 5281519 missense possibly damaging 0.95
R5584:Znrf3 UTSW 11 5286218 missense probably damaging 1.00
R5698:Znrf3 UTSW 11 5289006 intron probably benign
R5715:Znrf3 UTSW 11 5286239 missense possibly damaging 0.91
R5900:Znrf3 UTSW 11 5282110 missense probably damaging 0.98
R5988:Znrf3 UTSW 11 5281776 missense probably damaging 1.00
R6253:Znrf3 UTSW 11 5280865 missense probably benign 0.14
R7057:Znrf3 UTSW 11 5282442 missense probably benign 0.00
R7062:Znrf3 UTSW 11 5281550 missense probably damaging 1.00
R7410:Znrf3 UTSW 11 5288955 missense unknown
Posted On2015-12-18