Incidental Mutation 'R5988:Znrf3'
ID 481841
Institutional Source Beutler Lab
Gene Symbol Znrf3
Ensembl Gene ENSMUSG00000041961
Gene Name zinc and ring finger 3
Synonyms LOC382477
MMRRC Submission 044168-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R5988 (G1)
Quality Score 91.0077
Status Not validated
Chromosome 11
Chromosomal Location 5226329-5394847 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 5231776 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Cysteine to Tyrosine at position 483 (C483Y)
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: C579Y

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000105493
Gene: ENSMUSG00000041961
AA Change: C579Y

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: C483Y

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000134698
Gene: ENSMUSG00000041961
AA Change: C483Y

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
  • 1x: 99.8%
  • 3x: 99.1%
  • 10x: 95.3%
  • 20x: 84.3%
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: 104 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Actr8 T A 14: 29,715,030 (GRCm39) M615K possibly damaging Het
Acvr1c A T 2: 58,205,886 (GRCm39) C25S probably damaging Het
Adk A T 14: 21,473,616 (GRCm39) E291V probably benign Het
Ahnak C A 19: 8,986,711 (GRCm39) probably benign Het
Alg11 A G 8: 22,552,044 (GRCm39) T63A probably benign Het
Alox12 A T 11: 70,142,413 (GRCm39) S272T probably benign Het
Armc10 T A 5: 21,865,581 (GRCm39) S195T probably damaging Het
AW209491 C T 13: 14,812,365 (GRCm39) A406V probably benign Het
Baat G A 4: 49,502,871 (GRCm39) P84S probably damaging Het
BB014433 G A 8: 15,091,854 (GRCm39) T333I probably damaging Het
BC035947 G A 1: 78,475,843 (GRCm39) R230* probably null Het
Bcr G A 10: 75,011,167 (GRCm39) G26E probably benign Het
Ccdc88b T C 19: 6,833,348 (GRCm39) E233G probably damaging Het
Cep295 A G 9: 15,252,770 (GRCm39) F353L probably damaging Het
Chd8 T C 14: 52,455,395 (GRCm39) M1031V probably damaging Het
Col17a1 C G 19: 47,642,659 (GRCm39) G885R probably damaging Het
Cyp11a1 A C 9: 57,928,117 (GRCm39) I214L probably benign Het
Cyp3a44 A T 5: 145,731,728 (GRCm39) S139R probably damaging Het
Ddhd2 G A 8: 26,238,589 (GRCm39) R64C probably damaging Het
Dll3 A G 7: 27,993,537 (GRCm39) W561R probably damaging Het
Dnajc3 T C 14: 119,195,376 (GRCm39) V97A possibly damaging Het
Drosha C T 15: 12,834,582 (GRCm39) probably benign Het
E2f8 T C 7: 48,524,743 (GRCm39) D302G probably damaging Het
Ecd C G 14: 20,374,629 (GRCm39) D504H probably damaging Het
Eif1ad15 T A 12: 88,288,202 (GRCm39) N17I unknown Het
Eif4g2 C A 7: 110,676,437 (GRCm39) V331L probably benign Het
Fam124a T C 14: 62,824,986 (GRCm39) I160T possibly damaging Het
Fat1 A G 8: 45,482,493 (GRCm39) T3051A probably benign Het
Gm10271 A T 10: 116,808,497 (GRCm39) F6L probably damaging Het
Gm572 A G 4: 148,752,964 (GRCm39) E281G possibly damaging Het
Gm9944 T C 4: 144,179,775 (GRCm39) probably benign Het
Gstm5 A C 3: 107,803,270 (GRCm39) M1L probably benign Het
Havcr1 A G 11: 46,646,964 (GRCm39) T133A probably damaging Het
Hey1 T G 3: 8,731,379 (GRCm39) S68R probably damaging Het
Hsf2bp C T 17: 32,230,149 (GRCm39) probably null Het
Id2 T C 12: 25,145,723 (GRCm39) N96S probably benign Het
Ifi206 A C 1: 173,308,906 (GRCm39) S363R possibly damaging Het
Il21r T C 7: 125,231,460 (GRCm39) F296S probably damaging Het
Irgm2 A G 11: 58,111,013 (GRCm39) T247A probably benign Het
Irx5 T A 8: 93,087,299 (GRCm39) Y410* probably null Het
Kmt2c A G 5: 25,516,118 (GRCm39) I2575T probably benign Het
Lmbrd2 T A 15: 9,182,493 (GRCm39) probably null Het
Lrig1 A C 6: 94,605,023 (GRCm39) S191A probably damaging Het
Lrrc37 T C 11: 103,506,722 (GRCm39) probably benign Het
Lypd6b T A 2: 49,836,178 (GRCm39) C120S probably damaging Het
Mpdz A G 4: 81,202,812 (GRCm39) probably null Het
Myh6 G T 14: 55,202,851 (GRCm39) R23S probably damaging Het
Nat8f6 C T 6: 85,786,040 (GRCm39) M36I probably benign Het
Nol8 T A 13: 49,826,090 (GRCm39) M970K possibly damaging Het
Nrxn2 T C 19: 6,542,901 (GRCm39) F1042L possibly damaging Het
Nup160 T C 2: 90,519,553 (GRCm39) W277R probably damaging Het
Ogfr A T 2: 180,236,026 (GRCm39) T204S probably damaging Het
Or10j5 T A 1: 172,784,723 (GRCm39) Y120* probably null Het
Or1ak2 A G 2: 36,827,236 (GRCm39) Y35C probably damaging Het
Or1p1 T C 11: 74,179,679 (GRCm39) V69A probably benign Het
Or2n1d T C 17: 38,646,911 (GRCm39) F288L probably damaging Het
Or52n2b A T 7: 104,566,125 (GRCm39) V126E probably damaging Het
Or8c20 T C 9: 38,261,045 (GRCm39) V222A probably benign Het
Pcdh15 A G 10: 74,215,189 (GRCm39) I648V probably benign Het
Pced1b T A 15: 97,282,228 (GRCm39) V89E probably damaging Het
Phax G T 18: 56,708,564 (GRCm39) A43S probably benign Het
Phf20 A G 2: 156,149,250 (GRCm39) E976G probably damaging Het
Plin4 T C 17: 56,416,567 (GRCm39) T8A probably benign Het
Plxna1 G A 6: 89,334,522 (GRCm39) Q36* probably null Het
Pold1 T C 7: 44,190,004 (GRCm39) Y394C probably damaging Het
Ppp1r26 T A 2: 28,342,566 (GRCm39) V732E probably benign Het
Pramel5 A T 4: 143,999,716 (GRCm39) C124S possibly damaging Het
Prorp T A 12: 55,424,002 (GRCm39) M441K probably damaging Het
Prr14l C A 5: 32,988,195 (GRCm39) L433F probably damaging Het
Ptpn14 A G 1: 189,582,584 (GRCm39) Y477C probably damaging Het
Rcl1 T A 19: 29,099,167 (GRCm39) I154N probably damaging Het
Rfpl4 T C 7: 5,118,501 (GRCm39) Y23C probably damaging Het
Rims1 T C 1: 22,635,544 (GRCm39) K146E probably damaging Het
Rims2 A T 15: 39,155,577 (GRCm39) K126M probably damaging Het
Rpusd4 T A 9: 35,183,816 (GRCm39) probably null Het
Scn7a C T 2: 66,556,558 (GRCm39) W342* probably null Het
Sh3pxd2a A G 19: 47,353,077 (GRCm39) V128A probably benign Het
Slc15a5 T C 6: 138,020,529 (GRCm39) H268R probably benign Het
Slc22a3 T C 17: 12,652,782 (GRCm39) I321V possibly damaging Het
Slc7a6os A G 8: 106,928,965 (GRCm39) S231P probably benign Het
Smad5 T C 13: 56,883,798 (GRCm39) S395P probably damaging Het
Sorbs3 G A 14: 70,440,752 (GRCm39) T20I probably benign Het
Spata9 A G 13: 76,116,236 (GRCm39) I42V probably benign Het
Srl C T 16: 4,340,892 (GRCm39) C9Y unknown Het
Sugp2 T C 8: 70,695,875 (GRCm39) F283L probably benign Het
Syne2 T C 12: 75,976,191 (GRCm39) probably null Het
Taar6 A G 10: 23,861,154 (GRCm39) Y131H probably damaging Het
Tango2 T C 16: 18,120,554 (GRCm39) T137A probably damaging Het
Tas2r106 T A 6: 131,655,606 (GRCm39) I82L probably benign Het
Tbc1d32 T C 10: 55,964,433 (GRCm39) E922G probably damaging Het
Tgfb2 G T 1: 186,436,778 (GRCm39) P65Q probably benign Het
Tjp2 T G 19: 24,091,464 (GRCm39) I566L probably benign Het
Tnrc6a T A 7: 122,781,603 (GRCm39) N1424K probably damaging Het
Trim7 A T 11: 48,728,513 (GRCm39) M54L probably benign Het
Trpm1 T A 7: 63,876,553 (GRCm39) S535R probably benign Het
Tsc2 T A 17: 24,839,740 (GRCm39) N417I probably damaging Het
Ttn T C 2: 76,800,132 (GRCm39) R359G probably benign Het
Vim A G 2: 13,587,296 (GRCm39) T458A probably benign Het
Vps11 A T 9: 44,265,221 (GRCm39) S612R probably benign Het
Wdfy3 A G 5: 102,032,004 (GRCm39) S2273P probably benign Het
Wwox G T 8: 115,433,081 (GRCm39) R249L probably benign Het
Zbtb4 G T 11: 69,669,790 (GRCm39) G838C probably damaging Het
Zkscan3 A T 13: 21,580,461 (GRCm39) C76S probably damaging Het
Zscan2 A G 7: 80,525,947 (GRCm39) K556R possibly 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
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
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'- GAGTTGCTGCTGTAGTTCATCTCC -3'
(R):5'- TGGAGAGTGGCAGCACATCTAG -3'

Sequencing Primer
(F):5'- GTAGTTCATCTCCAGGCTGCAG -3'
(R):5'- GGCAGCACATCTAGCTTCAGTTG -3'
Posted On 2017-06-26