Incidental Mutation 'R1029:Znrf1'
ID 95153
Institutional Source Beutler Lab
Gene Symbol Znrf1
Ensembl Gene ENSMUSG00000033545
Gene Name zinc and ring finger 1
Synonyms nin283, B830022L21Rik, Zrfp1, Rnf42
MMRRC Submission 039131-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.094) question?
Stock # R1029 (G1)
Quality Score 146
Status Validated
Chromosome 8
Chromosomal Location 112262652-112352352 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 112263986 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Asparagine at position 72 (Y72N)
Ref Sequence ENSEMBL: ENSMUSP00000133993 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000095176] [ENSMUST00000166859] [ENSMUST00000168428] [ENSMUST00000171182] [ENSMUST00000172856] [ENSMUST00000173506] [ENSMUST00000174333] [ENSMUST00000173781] [ENSMUST00000174454]
AlphaFold Q91V17
Predicted Effect probably damaging
Transcript: ENSMUST00000095176
AA Change: Y72N

PolyPhen 2 Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000092799
Gene: ENSMUSG00000033545
AA Change: Y72N

DomainStartEndE-ValueType
RING 184 224 2.98e-3 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000166859
SMART Domains Protein: ENSMUSP00000132939
Gene: ENSMUSG00000033545

DomainStartEndE-ValueType
RING 84 124 2.98e-3 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000168428
AA Change: Y72N

PolyPhen 2 Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000126684
Gene: ENSMUSG00000033545
AA Change: Y72N

DomainStartEndE-ValueType
RING 184 224 2.98e-3 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000171182
AA Change: Y72N

PolyPhen 2 Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000127956
Gene: ENSMUSG00000033545
AA Change: Y72N

DomainStartEndE-ValueType
RING 152 192 2.98e-3 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000172856
AA Change: Y72N

PolyPhen 2 Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000133309
Gene: ENSMUSG00000033545
AA Change: Y72N

DomainStartEndE-ValueType
RING 184 224 2.98e-3 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000173481
Predicted Effect probably damaging
Transcript: ENSMUST00000173506
AA Change: Y72N

PolyPhen 2 Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000133993
Gene: ENSMUSG00000033545
AA Change: Y72N

DomainStartEndE-ValueType
RING 184 224 2.98e-3 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000174333
SMART Domains Protein: ENSMUSP00000134634
Gene: ENSMUSG00000033545

DomainStartEndE-ValueType
RING 84 124 2.98e-3 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000173781
SMART Domains Protein: ENSMUSP00000134232
Gene: ENSMUSG00000033545

DomainStartEndE-ValueType
RING 22 62 2.98e-3 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000174376
Predicted Effect probably benign
Transcript: ENSMUST00000173726
SMART Domains Protein: ENSMUSP00000133472
Gene: ENSMUSG00000033545

DomainStartEndE-ValueType
RING 45 85 2.98e-3 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000174454
SMART Domains Protein: ENSMUSP00000133519
Gene: ENSMUSG00000033545

DomainStartEndE-ValueType
RING 22 62 2.98e-3 SMART
Meta Mutation Damage Score 0.0701 question?
Coding Region Coverage
  • 1x: 99.7%
  • 3x: 99.0%
  • 10x: 97.2%
  • 20x: 94.5%
Validation Efficiency 92% (36/39)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes an E3 ubiquitin-protein ligase that plays a role in neural-cell differentiation. Overexpression of this gene causes neurite-like elongation. The encoded protein contains both a zinc finger and a RING finger motif and is localized in the endosome/lysosome compartment, indicating that it may be involved in ubiquitin-mediated protein modification, and in synaptic vessicle membranes in neurons. [provided by RefSeq, Feb 2012]
Allele List at MGI
Other mutations in this stock
Total: 36 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930505A04Rik A G 11: 30,376,177 (GRCm39) L230S probably damaging Het
4930505A04Rik A G 11: 30,396,389 (GRCm39) probably benign Het
Atg2b A G 12: 105,602,032 (GRCm39) I1648T probably damaging Het
Ccdc110 T C 8: 46,394,817 (GRCm39) F236S probably damaging Het
Ccdc178 T C 18: 22,230,782 (GRCm39) D363G possibly damaging Het
Cntn5 T A 9: 9,831,577 (GRCm39) D601V probably damaging Het
Cog7 C T 7: 121,529,752 (GRCm39) probably null Het
Dnah7c A G 1: 46,651,881 (GRCm39) K1365E probably damaging Het
Dock9 T C 14: 121,837,096 (GRCm39) probably null Het
Ehd3 T A 17: 74,123,321 (GRCm39) I108N probably benign Het
Erbb4 A G 1: 68,348,773 (GRCm39) S535P probably damaging Het
Fam170a T C 18: 50,414,741 (GRCm39) V129A probably damaging Het
Gfra3 T C 18: 34,823,892 (GRCm39) T361A probably benign Het
Gm10295 A T 7: 71,000,448 (GRCm39) I44K unknown Het
Gm10553 T C 1: 85,078,170 (GRCm39) S96P probably benign Het
Gm21738 T A 14: 19,415,957 (GRCm38) Y194F probably benign Het
Hspa13 A T 16: 75,562,125 (GRCm39) Y25N probably damaging Het
Lrfn3 G A 7: 30,055,347 (GRCm39) P533S probably damaging Het
Lrp4 A G 2: 91,317,372 (GRCm39) probably benign Het
Mical3 T C 6: 120,911,639 (GRCm39) D1991G probably benign Het
Myoz1 A G 14: 20,700,600 (GRCm39) Y206H probably damaging Het
Or2at1 A T 7: 99,416,431 (GRCm39) I21F probably benign Het
Otog A G 7: 45,924,019 (GRCm39) E1126G probably damaging Het
Pak3 TTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTC TTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTC X: 142,526,889 (GRCm39) probably benign Het
Prkdc A G 16: 15,472,613 (GRCm39) probably benign Het
Pttg1ip2 C T 5: 5,505,919 (GRCm39) A121T probably benign Het
Rab7 A G 6: 87,990,624 (GRCm39) S17P probably damaging Het
Slc35e1 T C 8: 73,246,415 (GRCm39) probably benign Het
Sppl2a A G 2: 126,765,514 (GRCm39) S203P probably benign Het
Taar7a A G 10: 23,868,439 (GRCm39) I314T possibly damaging Het
Tgs1 T C 4: 3,593,471 (GRCm39) I453T probably damaging Het
Tmem117 C A 15: 94,909,217 (GRCm39) T210N probably benign Het
Trim55 A G 3: 19,698,906 (GRCm39) N45S probably damaging Het
Ugt2b34 G C 5: 87,052,246 (GRCm39) S250* probably null Het
Vmn2r67 G A 7: 84,785,974 (GRCm39) T677I probably damaging Het
Zfp335 C G 2: 164,734,598 (GRCm39) probably benign Het
Other mutations in Znrf1
AlleleSourceChrCoordTypePredicted EffectPPH Score
R1911:Znrf1 UTSW 8 112,348,244 (GRCm39) missense possibly damaging 0.92
R1911:Znrf1 UTSW 8 112,348,233 (GRCm39) makesense probably null
R3754:Znrf1 UTSW 8 112,345,843 (GRCm39) missense probably damaging 1.00
R4867:Znrf1 UTSW 8 112,264,198 (GRCm39) critical splice donor site probably null
R5090:Znrf1 UTSW 8 112,265,035 (GRCm39) missense probably benign 0.00
R5267:Znrf1 UTSW 8 112,263,899 (GRCm39) missense probably benign 0.00
R5271:Znrf1 UTSW 8 112,335,976 (GRCm39) missense probably benign 0.23
R5396:Znrf1 UTSW 8 112,345,826 (GRCm39) splice site probably null
R7084:Znrf1 UTSW 8 112,263,774 (GRCm39) start codon destroyed probably null 0.53
R7493:Znrf1 UTSW 8 112,264,071 (GRCm39) missense probably damaging 1.00
R8507:Znrf1 UTSW 8 112,263,842 (GRCm39) missense probably damaging 0.99
R8926:Znrf1 UTSW 8 112,264,143 (GRCm39) missense probably damaging 0.99
R9445:Znrf1 UTSW 8 112,335,954 (GRCm39) missense probably damaging 0.99
Predicted Primers PCR Primer
(F):5'- GGAACATGCATTCGGCTTGGACAG -3'
(R):5'- AGCACATTAAGAGGTTTCGGGCG -3'

Sequencing Primer
(F):5'- CGGCTTGGACAGTTTGAAATTC -3'
(R):5'- ACCACTGTGCGAGCTGAAC -3'
Posted On 2014-01-05