Incidental Mutation 'R1509:Zfp467'
ID 168133
Institutional Source Beutler Lab
Gene Symbol Zfp467
Ensembl Gene ENSMUSG00000068551
Gene Name zinc finger protein 467
Synonyms EZI, MNCb-3350, 1190001I08Rik
MMRRC Submission 039556-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.170) question?
Stock # R1509 (G1)
Quality Score 225
Status Validated
Chromosome 6
Chromosomal Location 48404631-48422759 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 48415621 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Proline at position 344 (S344P)
Ref Sequence ENSEMBL: ENSMUSP00000110208 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000101443] [ENSMUST00000114556] [ENSMUST00000114558] [ENSMUST00000114559] [ENSMUST00000114560] [ENSMUST00000114561] [ENSMUST00000114563] [ENSMUST00000114564] [ENSMUST00000114566] [ENSMUST00000141449]
AlphaFold Q8JZL0
Predicted Effect probably benign
Transcript: ENSMUST00000101443
Predicted Effect probably benign
Transcript: ENSMUST00000114556
Predicted Effect probably benign
Transcript: ENSMUST00000114558
Predicted Effect probably benign
Transcript: ENSMUST00000114559
Predicted Effect possibly damaging
Transcript: ENSMUST00000114560
AA Change: S344P

PolyPhen 2 Score 0.946 (Sensitivity: 0.80; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000110207
Gene: ENSMUSG00000068551
AA Change: S344P

DomainStartEndE-ValueType
low complexity region 98 110 N/A INTRINSIC
ZnF_C2H2 160 182 1.26e-2 SMART
ZnF_C2H2 188 210 1.67e-2 SMART
ZnF_C2H2 216 238 2.12e-4 SMART
ZnF_C2H2 244 266 5.9e-3 SMART
ZnF_C2H2 272 294 1.47e-3 SMART
ZnF_C2H2 300 322 1.82e-3 SMART
ZnF_C2H2 355 377 9.58e-3 SMART
ZnF_C2H2 430 452 7.26e-3 SMART
ZnF_C2H2 458 480 1.56e-2 SMART
ZnF_C2H2 486 508 1.18e-2 SMART
ZnF_C2H2 514 536 3.11e-2 SMART
ZnF_C2H2 542 564 2.43e-4 SMART
low complexity region 567 585 N/A INTRINSIC
Predicted Effect possibly damaging
Transcript: ENSMUST00000114561
AA Change: S344P

PolyPhen 2 Score 0.946 (Sensitivity: 0.80; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000110208
Gene: ENSMUSG00000068551
AA Change: S344P

DomainStartEndE-ValueType
low complexity region 98 110 N/A INTRINSIC
ZnF_C2H2 160 182 1.26e-2 SMART
ZnF_C2H2 188 210 1.67e-2 SMART
ZnF_C2H2 216 238 2.12e-4 SMART
ZnF_C2H2 244 266 5.9e-3 SMART
ZnF_C2H2 272 294 1.47e-3 SMART
ZnF_C2H2 300 322 1.82e-3 SMART
ZnF_C2H2 355 377 9.58e-3 SMART
ZnF_C2H2 430 452 7.26e-3 SMART
ZnF_C2H2 458 480 1.56e-2 SMART
ZnF_C2H2 486 508 1.18e-2 SMART
ZnF_C2H2 514 536 3.11e-2 SMART
ZnF_C2H2 542 564 2.43e-4 SMART
low complexity region 567 585 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000140198
Predicted Effect probably benign
Transcript: ENSMUST00000114563
Predicted Effect probably benign
Transcript: ENSMUST00000114564
Predicted Effect probably benign
Transcript: ENSMUST00000114566
Predicted Effect probably benign
Transcript: ENSMUST00000141449
Meta Mutation Damage Score 0.1068 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.3%
  • 10x: 96.4%
  • 20x: 93.1%
Validation Efficiency 99% (89/90)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a zinc finger protein whose function has not yet been elucidated in humans. However, the mouse ortholog of this protein enhances adipocyte differentiation and suppresses osteoblast differentiation in bone marrow. The mouse protein also is a transcription factor for several genes and can help recruit histone deacetylase complexes. [provided by RefSeq, Aug 2016]
Allele List at MGI
Other mutations in this stock
Total: 86 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2210408I21Rik T C 13: 77,340,766 (GRCm39) S132P probably benign Het
AC153895.1 T C 6: 50,020,451 (GRCm39) R54G unknown Het
Acot12 G A 13: 91,919,994 (GRCm39) probably null Het
Adhfe1 T A 1: 9,623,671 (GRCm39) D98E probably benign Het
Ago2 A G 15: 72,988,213 (GRCm39) F594S probably damaging Het
Aldh18a1 A G 19: 40,545,927 (GRCm39) I620T probably damaging Het
Aspscr1 C A 11: 120,592,342 (GRCm39) A294D probably damaging Het
Bod1l C G 5: 41,976,883 (GRCm39) R1477T probably damaging Het
Ccdc18 C A 5: 108,336,844 (GRCm39) A741D possibly damaging Het
Ces4a G A 8: 105,864,729 (GRCm39) G69S probably damaging Het
Cfap52 C T 11: 67,829,819 (GRCm39) V317I probably benign Het
Cgn A T 3: 94,681,568 (GRCm39) L509Q probably benign Het
Crb2 A G 2: 37,676,631 (GRCm39) H204R probably benign Het
Cspg4b A G 13: 113,504,790 (GRCm39) N431S probably damaging Het
Ddx39a G A 8: 84,446,527 (GRCm39) V99M probably damaging Het
Dis3l2 T A 1: 86,948,808 (GRCm39) C582S possibly damaging Het
Dmbt1 G A 7: 130,676,061 (GRCm39) probably benign Het
Dnah6 T C 6: 73,004,425 (GRCm39) E3846G probably damaging Het
Dstyk A G 1: 132,384,084 (GRCm39) E655G probably damaging Het
Epha4 T C 1: 77,357,523 (GRCm39) Y825C probably damaging Het
Esp36 T A 17: 38,728,173 (GRCm39) N36I probably damaging Het
Fabp3 C T 4: 130,206,180 (GRCm39) T57I probably benign Het
Fem1c A G 18: 46,657,280 (GRCm39) S145P probably benign Het
Galnt13 T C 2: 54,623,094 (GRCm39) I80T probably damaging Het
Gm5698 T C 1: 31,016,728 (GRCm39) T108A probably benign Het
Hipk3 A G 2: 104,271,607 (GRCm39) S442P probably benign Het
Hmcn2 T A 2: 31,204,491 (GRCm39) V22D possibly damaging Het
Hspg2 C T 4: 137,238,552 (GRCm39) probably benign Het
Ide A G 19: 37,262,603 (GRCm39) probably null Het
Ifnar1 C A 16: 91,300,384 (GRCm39) P462Q probably damaging Het
Itgb2l T A 16: 96,228,049 (GRCm39) I485F probably benign Het
Jakmip3 C T 7: 138,629,505 (GRCm39) R549W possibly damaging Het
Lrrc36 A G 8: 106,187,761 (GRCm39) Q680R probably damaging Het
Lysmd3 T G 13: 81,817,390 (GRCm39) H122Q probably benign Het
Macf1 C A 4: 123,577,802 (GRCm39) V61L possibly damaging Het
Map1b T C 13: 99,568,036 (GRCm39) T1562A unknown Het
Map3k20 A T 2: 72,194,968 (GRCm39) probably benign Het
Mroh8 A G 2: 157,075,125 (GRCm39) V457A probably benign Het
Mrpl40 T A 16: 18,694,159 (GRCm39) probably null Het
Ms4a10 C T 19: 10,941,472 (GRCm39) V166I probably benign Het
Mycl A G 4: 122,894,100 (GRCm39) D300G probably damaging Het
Naca T A 10: 127,879,266 (GRCm39) probably benign Het
Ncoa4 T C 14: 31,895,391 (GRCm39) S172P probably damaging Het
Nfatc3 T C 8: 106,810,486 (GRCm39) F421L possibly damaging Het
Nucb1 C A 7: 45,144,649 (GRCm39) K301N probably benign Het
Or1af1 A G 2: 37,109,966 (GRCm39) H155R probably damaging Het
Or52ae9 A T 7: 103,390,243 (GRCm39) M68K probably benign Het
Or5b99 T A 19: 12,976,815 (GRCm39) I155N possibly damaging Het
Panx1 A T 9: 14,921,341 (GRCm39) V178E possibly damaging Het
Pkd1l3 G A 8: 110,367,402 (GRCm39) V1210I probably damaging Het
Polr2a A T 11: 69,638,039 (GRCm39) H143Q possibly damaging Het
Potefam1 A T 2: 111,048,972 (GRCm39) M269K probably benign Het
Prdm12 G A 2: 31,544,186 (GRCm39) R263H probably damaging Het
Prkdc A C 16: 15,549,430 (GRCm39) K1998T probably damaging Het
Rab11fip1 A T 8: 27,643,051 (GRCm39) S583T probably damaging Het
Rnf157 T A 11: 116,237,921 (GRCm39) T567S probably benign Het
Rp1 T C 1: 4,417,917 (GRCm39) K1065R probably damaging Het
Rp1 A G 1: 4,418,760 (GRCm39) I784T probably benign Het
Rps10 A C 17: 27,850,182 (GRCm39) F150V probably benign Het
Rrp12 A T 19: 41,870,639 (GRCm39) F499I probably damaging Het
Sez6l2 G A 7: 126,562,535 (GRCm39) R604H probably damaging Het
Slc25a21 G T 12: 56,904,864 (GRCm39) Q57K probably benign Het
Slc27a2 A G 2: 126,395,234 (GRCm39) T54A possibly damaging Het
Slc9a9 T A 9: 95,111,011 (GRCm39) S610T probably benign Het
Smc1b A T 15: 84,970,335 (GRCm39) S973T probably benign Het
Smc6 G A 12: 11,329,734 (GRCm39) S164N possibly damaging Het
Sp1 A G 15: 102,316,314 (GRCm39) T32A possibly damaging Het
Spen T C 4: 141,202,946 (GRCm39) I1894V probably benign Het
Spen T C 4: 141,203,011 (GRCm39) K1872R possibly damaging Het
Stab1 C A 14: 30,873,541 (GRCm39) probably benign Het
Taar7d T G 10: 23,904,102 (GRCm39) F328C probably damaging Het
Ticam1 A T 17: 56,578,113 (GRCm39) S327R probably benign Het
Tmem248 C T 5: 130,258,295 (GRCm39) probably benign Het
Tom1 T C 8: 75,781,259 (GRCm39) S83P probably damaging Het
Txk T A 5: 72,856,453 (GRCm39) Y446F probably damaging Het
Ubap1l T A 9: 65,279,237 (GRCm39) C179S probably benign Het
Utrn T C 10: 12,331,185 (GRCm39) E474G possibly damaging Het
Vmn2r14 T C 5: 109,363,862 (GRCm39) M685V probably benign Het
Vmn2r7 A T 3: 64,623,881 (GRCm39) Y146* probably null Het
Wdr1 G A 5: 38,697,905 (GRCm39) T220M probably damaging Het
Xpo7 T C 14: 70,915,582 (GRCm39) D726G probably damaging Het
Zbtb14 C G 17: 69,694,759 (GRCm39) I152M probably benign Het
Zbtb3 A G 19: 8,780,771 (GRCm39) D128G probably damaging Het
Zeb1os1 A G 18: 5,583,794 (GRCm39) noncoding transcript Het
Zfp462 T A 4: 55,007,667 (GRCm39) D35E probably damaging Het
Zfpm1 A T 8: 123,034,285 (GRCm39) D73V possibly damaging Het
Other mutations in Zfp467
AlleleSourceChrCoordTypePredicted EffectPPH Score
R0166:Zfp467 UTSW 6 48,415,615 (GRCm39) missense probably benign 0.00
R0234:Zfp467 UTSW 6 48,415,689 (GRCm39) missense probably damaging 1.00
R0234:Zfp467 UTSW 6 48,415,689 (GRCm39) missense probably damaging 1.00
R1517:Zfp467 UTSW 6 48,415,170 (GRCm39) missense probably damaging 1.00
R1656:Zfp467 UTSW 6 48,416,013 (GRCm39) missense possibly damaging 0.87
R2131:Zfp467 UTSW 6 48,419,595 (GRCm39) missense probably damaging 0.98
R2912:Zfp467 UTSW 6 48,416,010 (GRCm39) missense possibly damaging 0.95
R4696:Zfp467 UTSW 6 48,416,291 (GRCm39) unclassified probably benign
R4714:Zfp467 UTSW 6 48,404,751 (GRCm39) missense unknown
R4993:Zfp467 UTSW 6 48,415,963 (GRCm39) missense probably damaging 1.00
R7038:Zfp467 UTSW 6 48,415,072 (GRCm39) missense probably damaging 1.00
R7224:Zfp467 UTSW 6 48,421,903 (GRCm39) critical splice donor site probably null
R7855:Zfp467 UTSW 6 48,416,115 (GRCm39) missense probably damaging 0.99
R8073:Zfp467 UTSW 6 48,414,959 (GRCm39) missense probably damaging 0.99
R8093:Zfp467 UTSW 6 48,420,366 (GRCm39) missense possibly damaging 0.95
R8139:Zfp467 UTSW 6 48,416,268 (GRCm39) missense probably damaging 1.00
R8920:Zfp467 UTSW 6 48,415,414 (GRCm39) missense probably benign 0.06
R9418:Zfp467 UTSW 6 48,415,990 (GRCm39) missense probably damaging 1.00
R9608:Zfp467 UTSW 6 48,404,776 (GRCm39) missense unknown
R9656:Zfp467 UTSW 6 48,419,603 (GRCm39) missense possibly damaging 0.82
Predicted Primers PCR Primer
(F):5'- AGCACAGGCAAATGGCCTTTCG -3'
(R):5'- TCCGCAAGAAGACGCATCTGATCC -3'

Sequencing Primer
(F):5'- GAACCCGGTCCACAGTCAG -3'
(R):5'- TCCGCCACCAGCGTATC -3'
Posted On 2014-04-13