Incidental Mutation 'R2884:Znrf3'
ID 260974
Institutional Source Beutler Lab
Gene Symbol Znrf3
Ensembl Gene ENSMUSG00000041961
Gene Name zinc and ring finger 3
Synonyms LOC382477
MMRRC Submission 040472-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R2884 (G1)
Quality Score 225
Status Not validated
Chromosome 11
Chromosomal Location 5226329-5394847 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 5239693 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glutamic Acid at position 58 (D58E)
Ref Sequence ENSEMBL: ENSMUSP00000134698 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000109867] [ENSMUST00000143746] [ENSMUST00000172492]
AlphaFold Q5SSZ7
Predicted Effect probably damaging
Transcript: ENSMUST00000109867
AA Change: D154E

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000105493
Gene: ENSMUSG00000041961
AA Change: D154E

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: ENSMUST00000143746
AA Change: D154E

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000122475
Gene: ENSMUSG00000041961
AA Change: D154E

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: D58E

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000134698
Gene: ENSMUSG00000041961
AA Change: D58E

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 0.3863 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.3%
  • 20x: 95.0%
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: 44 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
6430548M08Rik G T 8: 120,872,250 (GRCm39) E59D possibly damaging Het
Arhgap27 T C 11: 103,251,669 (GRCm39) probably null Het
BC061237 A G 14: 44,738,627 (GRCm39) R9G possibly damaging Het
Brsk1 A G 7: 4,694,122 (GRCm39) probably benign Het
Col1a2 G A 6: 4,518,822 (GRCm39) probably benign Het
Cspg4b G T 13: 113,505,725 (GRCm39) A2285S probably benign Het
Cspg4b A T 13: 113,457,216 (GRCm39) Q1087H probably damaging Het
Dnajb5 A T 4: 42,957,355 (GRCm39) D284V probably damaging Het
Dnmt3a A G 12: 3,946,132 (GRCm39) D329G probably damaging Het
Ecd C T 14: 20,370,841 (GRCm39) G626D probably damaging Het
Exoc3l4 A G 12: 111,394,956 (GRCm39) D551G possibly damaging Het
Fam227b A T 2: 125,942,846 (GRCm39) I317N probably benign Het
Fam3c G A 6: 22,329,581 (GRCm39) R49C probably damaging Het
Fcrl5 A G 3: 87,364,698 (GRCm39) Y566C probably damaging Het
Fras1 A G 5: 96,848,127 (GRCm39) N1779S probably benign Het
Gm19965 T A 1: 116,749,313 (GRCm39) N331K probably benign Het
Grm7 G T 6: 110,623,309 (GRCm39) V161F probably damaging Het
H2ac8 A G 13: 23,755,047 (GRCm39) I79T probably damaging Het
H2-DMa A G 17: 34,356,121 (GRCm39) N41S probably damaging Het
Habp4 A T 13: 64,330,080 (GRCm39) R328S probably benign Het
Hexb C T 13: 97,320,208 (GRCm39) G272D probably damaging Het
Lilrb4a A T 10: 51,367,709 (GRCm39) N84Y probably benign Het
Mtnr1a A G 8: 45,540,305 (GRCm39) T89A probably benign Het
Myh13 T A 11: 67,228,469 (GRCm39) N336K probably benign Het
Naca T C 10: 127,877,547 (GRCm39) probably benign Het
Naif1 C T 2: 32,344,887 (GRCm39) P197L probably benign Het
Nprl3 A G 11: 32,198,163 (GRCm39) L179P probably damaging Het
Nup93 A G 8: 95,030,266 (GRCm39) Y375C probably damaging Het
Or52b4 A G 7: 102,184,439 (GRCm39) I162V probably benign Het
Pcdha12 G A 18: 37,153,757 (GRCm39) D159N probably damaging Het
Plekhs1 G A 19: 56,459,258 (GRCm39) G39R probably benign Het
Ppp4r3a T C 12: 101,034,936 (GRCm39) E53G probably damaging Het
Prss48 A T 3: 85,904,562 (GRCm39) M212K probably benign Het
Pth A T 7: 112,985,235 (GRCm39) L46Q probably damaging Het
Rin2 A T 2: 145,702,911 (GRCm39) T536S probably benign Het
Setx T G 2: 29,038,637 (GRCm39) C1707W probably damaging Het
Stau2 A T 1: 16,301,290 (GRCm39) F519Y possibly damaging Het
Syne2 T G 12: 76,010,533 (GRCm39) V2481G probably benign Het
Tpte C T 8: 22,825,439 (GRCm39) Q331* probably null Het
Ttn G T 2: 76,730,596 (GRCm39) probably benign Het
Utrn A T 10: 12,615,105 (GRCm39) probably null Het
Vmn2r82 A G 10: 79,232,082 (GRCm39) I694V probably benign Het
Vmn2r88 G A 14: 51,651,391 (GRCm39) C235Y probably damaging Het
Xrn2 T A 2: 146,889,576 (GRCm39) V653E 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
R2353:Znrf3 UTSW 11 5,231,170 (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'- ATATGCCTCTCTCAGGTATCATACC -3'
(R):5'- AGCCAGTGACTCATTCCCAC -3'

Sequencing Primer
(F):5'- TACCTGATACTCAAACACAGACAGAG -3'
(R):5'- ACAAAGTAGGTGGCATTGTCTCC -3'
Posted On 2015-01-23