Incidental Mutation 'IGL03243:Znrf2'
ID414304
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Znrf2
Ensembl Gene ENSMUSG00000058446
Gene Namezinc and ring finger 2
SynonymsD6Ertd365e, 1190002C14Rik
Accession Numbers
Is this an essential gene? Possibly non essential (E-score: 0.353) question?
Stock #IGL03243
Quality Score
Status
Chromosome6
Chromosomal Location54816916-54893500 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to T at 54884769 bp
ZygosityHeterozygous
Amino Acid Change Isoleucine to Leucine at position 222 (I222L)
Ref Sequence ENSEMBL: ENSMUSP00000078795 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000079869] [ENSMUST00000127331]
Predicted Effect possibly damaging
Transcript: ENSMUST00000079869
AA Change: I222L

PolyPhen 2 Score 0.953 (Sensitivity: 0.79; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000078795
Gene: ENSMUSG00000058446
AA Change: I222L

DomainStartEndE-ValueType
low complexity region 18 71 N/A INTRINSIC
low complexity region 72 92 N/A INTRINSIC
low complexity region 120 136 N/A INTRINSIC
RING 195 235 9.83e-4 SMART
Predicted Effect possibly damaging
Transcript: ENSMUST00000127331
AA Change: I78L

PolyPhen 2 Score 0.650 (Sensitivity: 0.87; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000123316
Gene: ENSMUSG00000058446
AA Change: I78L

DomainStartEndE-ValueType
RING 51 91 9.83e-4 SMART
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 31 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adam26a T C 8: 43,568,696 T586A probably benign Het
Agtr1b T C 3: 20,315,795 T216A probably benign Het
Ankdd1a T C 9: 65,501,470 R505G probably benign Het
Anxa3 A T 5: 96,828,692 probably benign Het
Atp6v1c2 C T 12: 17,289,121 V210I probably benign Het
BC034090 G A 1: 155,225,655 P288S possibly damaging Het
Catsper2 T C 2: 121,406,819 H200R probably benign Het
Cntnap5c G T 17: 58,102,176 A470S probably benign Het
Fcho2 G A 13: 98,777,384 probably benign Het
Frem1 A C 4: 83,013,969 L165R probably damaging Het
Gm5155 A T 7: 17,918,649 noncoding transcript Het
Gpn1 G A 5: 31,510,831 probably null Het
Gpr179 T C 11: 97,351,475 N181S probably benign Het
Heatr5b A T 17: 78,763,080 probably benign Het
Kat6a A G 8: 22,910,222 N333S possibly damaging Het
Lrp5 T C 19: 3,630,159 T442A probably benign Het
Myo15 G T 11: 60,496,518 L722F probably damaging Het
Nlrp9c T G 7: 26,365,032 D957A probably damaging Het
Nupl1 T A 14: 60,221,616 T521S probably benign Het
Olfr58 T G 9: 19,783,268 I45S probably damaging Het
Plek C A 11: 16,995,319 V4L possibly damaging Het
Sell T A 1: 164,065,342 H42Q possibly damaging Het
Slfn8 A T 11: 83,003,707 I702K probably damaging Het
Svep1 T C 4: 58,133,387 I573V probably benign Het
Tgm1 T A 14: 55,705,907 I526F probably damaging Het
Tmem30c A T 16: 57,276,150 S203T probably benign Het
Tox T C 4: 6,697,597 N402S possibly damaging Het
Trav7d-4 C A 14: 52,770,098 probably benign Het
Unc13d A T 11: 116,067,844 V784D probably benign Het
Vmn2r68 A G 7: 85,233,755 V263A possibly damaging Het
Zfp385c A T 11: 100,634,747 V56D probably damaging Het
Other mutations in Znrf2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01472:Znrf2 APN 6 54863972 missense probably damaging 1.00
R3406:Znrf2 UTSW 6 54884791 missense probably damaging 1.00
R4168:Znrf2 UTSW 6 54863960 missense possibly damaging 0.47
R4604:Znrf2 UTSW 6 54878440 nonsense probably null
R6575:Znrf2 UTSW 6 54878445 missense probably damaging 1.00
R7076:Znrf2 UTSW 6 54842695 makesense probably null
R7880:Znrf2 UTSW 6 54817347 missense probably benign 0.06
R7963:Znrf2 UTSW 6 54817347 missense probably benign 0.06
Posted On2016-08-02