Incidental Mutation 'R2353:Znrf3'
ID 246265
Institutional Source Beutler Lab
Gene Symbol Znrf3
Ensembl Gene ENSMUSG00000041961
Gene Name zinc and ring finger 3
Synonyms LOC382477
MMRRC Submission 040335-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R2353 (G1)
Quality Score 225
Status Validated
Chromosome 11
Chromosomal Location 5226329-5394847 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 5231170 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamic Acid to Glycine at position 685 (E685G)
Ref Sequence ENSEMBL: ENSMUSP00000134698 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000109867] [ENSMUST00000172492]
AlphaFold Q5SSZ7
Predicted Effect probably damaging
Transcript: ENSMUST00000109867
AA Change: E781G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000105493
Gene: ENSMUSG00000041961
AA Change: E781G

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 probably damaging
Transcript: ENSMUST00000172492
AA Change: E685G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000134698
Gene: ENSMUSG00000041961
AA Change: E685G

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
Meta Mutation Damage Score 0.2140 question?
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.7%
  • 10x: 97.4%
  • 20x: 95.2%
Validation Efficiency 100% (32/32)
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: 31 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aadacl4 G T 4: 144,349,779 (GRCm39) E345D probably damaging Het
Adam7 T A 14: 68,742,537 (GRCm39) Q692L probably benign Het
Ankk1 A C 9: 49,329,990 (GRCm39) C322G probably benign Het
Ap3b2 C T 7: 81,123,598 (GRCm39) probably benign Het
Apeh T C 9: 107,963,491 (GRCm39) D577G possibly damaging Het
Aspm T A 1: 139,405,435 (GRCm39) W1441R probably damaging Het
B4galt3 C A 1: 171,101,613 (GRCm39) H196N probably damaging Het
Cd163 G T 6: 124,296,115 (GRCm39) E820* probably null Het
Cd38 T A 5: 44,065,353 (GRCm39) probably null Het
Cdh15 G A 8: 123,588,763 (GRCm39) R279Q probably damaging Het
Enpp1 C A 10: 24,527,239 (GRCm39) Q649H probably benign Het
Garnl3 T A 2: 32,954,046 (GRCm39) R86S probably damaging Het
Gbe1 A G 16: 70,233,909 (GRCm39) probably null Het
Gm5117 A G 8: 32,229,223 (GRCm39) noncoding transcript Het
Hip1 A T 5: 135,441,566 (GRCm39) V568E probably damaging Het
Hspa14 G A 2: 3,512,213 (GRCm39) probably null Het
Lrrc4 A G 6: 28,831,451 (GRCm39) F55L probably benign Het
Med31 T A 11: 72,104,966 (GRCm39) N35I probably damaging Het
Msi1 C A 5: 115,574,568 (GRCm39) probably benign Het
Or1e34 T C 11: 73,778,660 (GRCm39) I179M probably benign Het
Or4b1 A T 2: 89,980,062 (GRCm39) L96Q probably damaging Het
Parl T C 16: 20,105,790 (GRCm39) T211A probably benign Het
Ppwd1 T C 13: 104,350,090 (GRCm39) I432V probably benign Het
Scn10a T A 9: 119,467,753 (GRCm39) I796F probably damaging Het
Semp2l2a T A 8: 13,886,951 (GRCm39) E380V probably damaging Het
Sh3rf3 A G 10: 58,842,895 (GRCm39) D287G probably damaging Het
Sin3b T C 8: 73,450,780 (GRCm39) probably null Het
Ubr4 T C 4: 139,160,984 (GRCm39) I2493T possibly damaging Het
Uts2 T A 4: 151,084,593 (GRCm39) probably null Het
Zfp109 T C 7: 23,928,806 (GRCm39) D201G probably benign Het
Zfp407 A G 18: 84,578,005 (GRCm39) F1036S probably damaging Het
Other mutations in Znrf3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00160:Znrf3 APN 11 5,239,039 (GRCm39) missense probably damaging 1.00
IGL01387:Znrf3 APN 11 5,288,656 (GRCm39) nonsense probably null
IGL02895:Znrf3 APN 11 5,239,085 (GRCm39) missense probably damaging 0.97
R0788:Znrf3 UTSW 11 5,231,320 (GRCm39) missense probably benign 0.04
R1383:Znrf3 UTSW 11 5,231,994 (GRCm39) missense probably damaging 0.96
R1544:Znrf3 UTSW 11 5,239,066 (GRCm39) missense probably damaging 1.00
R1556:Znrf3 UTSW 11 5,231,347 (GRCm39) missense probably benign 0.01
R1586:Znrf3 UTSW 11 5,231,477 (GRCm39) missense probably damaging 1.00
R1852:Znrf3 UTSW 11 5,237,455 (GRCm39) missense possibly damaging 0.94
R1864:Znrf3 UTSW 11 5,233,373 (GRCm39) missense possibly damaging 0.95
R1927:Znrf3 UTSW 11 5,231,062 (GRCm39) missense probably benign 0.28
R2884:Znrf3 UTSW 11 5,239,693 (GRCm39) missense probably damaging 1.00
R2885:Znrf3 UTSW 11 5,239,693 (GRCm39) missense probably damaging 1.00
R4021:Znrf3 UTSW 11 5,231,278 (GRCm39) missense possibly damaging 0.68
R4811:Znrf3 UTSW 11 5,237,420 (GRCm39) missense probably benign 0.07
R4935:Znrf3 UTSW 11 5,233,422 (GRCm39) missense probably damaging 1.00
R5218:Znrf3 UTSW 11 5,231,519 (GRCm39) missense possibly damaging 0.95
R5584:Znrf3 UTSW 11 5,236,218 (GRCm39) missense probably damaging 1.00
R5698:Znrf3 UTSW 11 5,239,006 (GRCm39) intron probably benign
R5715:Znrf3 UTSW 11 5,236,239 (GRCm39) missense possibly damaging 0.91
R5900:Znrf3 UTSW 11 5,232,110 (GRCm39) missense probably damaging 0.98
R5988:Znrf3 UTSW 11 5,231,776 (GRCm39) missense probably damaging 1.00
R6253:Znrf3 UTSW 11 5,230,865 (GRCm39) missense probably benign 0.14
R7057:Znrf3 UTSW 11 5,232,442 (GRCm39) missense probably benign 0.00
R7062:Znrf3 UTSW 11 5,231,550 (GRCm39) missense probably damaging 1.00
R7410:Znrf3 UTSW 11 5,238,955 (GRCm39) missense unknown
R7881:Znrf3 UTSW 11 5,394,533 (GRCm39) missense unknown
R9449:Znrf3 UTSW 11 5,288,710 (GRCm39) nonsense probably null
R9468:Znrf3 UTSW 11 5,288,696 (GRCm39) missense probably damaging 0.99
R9522:Znrf3 UTSW 11 5,232,379 (GRCm39) missense probably damaging 1.00
R9648:Znrf3 UTSW 11 5,231,915 (GRCm39) missense probably damaging 1.00
R9683:Znrf3 UTSW 11 5,394,465 (GRCm39) missense possibly damaging 0.59
R9715:Znrf3 UTSW 11 5,232,454 (GRCm39) missense possibly damaging 0.93
Z1177:Znrf3 UTSW 11 5,236,168 (GRCm39) missense possibly damaging 0.94
Predicted Primers PCR Primer
(F):5'- TTGTGCCTAGACTCCAGTGG -3'
(R):5'- GCAGTTTATTCCTGGGTCCTCG -3'

Sequencing Primer
(F):5'- GAACGTCCAAGCTCAGTGC -3'
(R):5'- TCCTCGAGGACTGCAACC -3'
Posted On 2014-10-30