Incidental Mutation 'R7184:Zfp457'
ID 559197
Institutional Source Beutler Lab
Gene Symbol Zfp457
Ensembl Gene ENSMUSG00000055341
Gene Name zinc finger protein 457
Synonyms Rslcan-6
MMRRC Submission 045236-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.084) question?
Stock # R7184 (G1)
Quality Score 225.009
Status Validated
Chromosome 13
Chromosomal Location 67440514-67454476 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to A at 67442065 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Cysteine to Phenylalanine at position 170 (C170F)
Ref Sequence ENSEMBL: ENSMUSP00000053879 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000049705] [ENSMUST00000224325]
AlphaFold L7N1X4
Predicted Effect possibly damaging
Transcript: ENSMUST00000049705
AA Change: C170F

PolyPhen 2 Score 0.690 (Sensitivity: 0.86; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000053879
Gene: ENSMUSG00000055341
AA Change: C170F

DomainStartEndE-ValueType
KRAB 5 65 1.55e-29 SMART
ZnF_C2H2 81 103 2.75e-3 SMART
ZnF_C2H2 109 131 1.1e-2 SMART
ZnF_C2H2 165 187 3.63e-3 SMART
ZnF_C2H2 193 215 2.4e-3 SMART
ZnF_C2H2 221 243 1.12e-3 SMART
ZnF_C2H2 249 271 6.32e-3 SMART
ZnF_C2H2 277 299 6.32e-3 SMART
ZnF_C2H2 305 327 3.52e-1 SMART
ZnF_C2H2 333 355 3.89e-3 SMART
ZnF_C2H2 361 383 7.26e-3 SMART
ZnF_C2H2 389 411 1.2e-3 SMART
ZnF_C2H2 417 439 7.67e-2 SMART
ZnF_C2H2 445 467 1.05e1 SMART
ZnF_C2H2 473 495 3.11e-2 SMART
ZnF_C2H2 501 523 5.9e-3 SMART
ZnF_C2H2 529 551 9.08e-4 SMART
ZnF_C2H2 585 607 5.72e-1 SMART
transmembrane domain 624 646 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000224325
AA Change: C74F

PolyPhen 2 Score 0.962 (Sensitivity: 0.78; Specificity: 0.95)
Predicted Effect probably benign
Transcript: ENSMUST00000225338
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.7%
  • 20x: 99.0%
Validation Efficiency 100% (63/63)
Allele List at MGI
Other mutations in this stock
Total: 64 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aass A G 6: 23,094,219 (GRCm39) S500P possibly damaging Het
Aldh9a1 T A 1: 167,184,965 (GRCm39) N292K probably benign Het
Art2b A T 7: 101,229,658 (GRCm39) S80R probably benign Het
Atp6v1b2 G T 8: 69,555,219 (GRCm39) A194S possibly damaging Het
Bsnd T C 4: 106,349,109 (GRCm39) M44V probably damaging Het
Cadps2 A T 6: 23,583,428 (GRCm39) V383E probably benign Het
Cd93 T C 2: 148,284,459 (GRCm39) T296A possibly damaging Het
Cdk15 G T 1: 59,304,814 (GRCm39) E138D probably benign Het
Cdon A G 9: 35,375,191 (GRCm39) I406V probably benign Het
Cfhr4 A G 1: 139,660,822 (GRCm39) V622A possibly damaging Het
Cyp3a41a A G 5: 145,642,663 (GRCm39) V232A probably benign Het
Dbndd1 T A 8: 124,235,860 (GRCm39) D130V probably damaging Het
Dnah14 C T 1: 181,532,094 (GRCm39) R2294* probably null Het
Eddm3b A G 14: 51,354,387 (GRCm39) Y125C probably damaging Het
Eif1ad14 G A 12: 87,886,492 (GRCm39) R46W possibly damaging Het
Enah A T 1: 181,749,957 (GRCm39) V294E probably damaging Het
Farp2 A G 1: 93,531,137 (GRCm39) E545G probably damaging Het
Farsb T C 1: 78,458,994 (GRCm39) E22G possibly damaging Het
Fcsk G A 8: 111,613,788 (GRCm39) P758S probably damaging Het
Fezf1 A G 6: 23,247,835 (GRCm39) V80A probably benign Het
Fpr2 T C 17: 18,113,533 (GRCm39) Y39H unknown Het
Fsd1l C A 4: 53,694,054 (GRCm39) R344S probably damaging Het
Fxyd1 G T 7: 30,751,401 (GRCm39) R90S unknown Het
Galnt4 T A 10: 98,944,466 (GRCm39) Y64N probably damaging Het
Gatb C T 3: 85,544,258 (GRCm39) Q409* probably null Het
Glipr2 A C 4: 43,968,667 (GRCm39) D73A possibly damaging Het
Gm40460 ACCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAG ACCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAG 7: 141,794,450 (GRCm39) probably benign Het
Gpr88 C T 3: 116,045,643 (GRCm39) V223I possibly damaging Het
Gtf2h3 A G 5: 124,722,067 (GRCm39) N55S probably benign Het
Htr4 T A 18: 62,570,498 (GRCm39) C184* probably null Het
Ighv6-3 T A 12: 114,355,475 (GRCm39) R71S probably benign Het
Itpr2 G C 6: 146,212,585 (GRCm39) I1510M possibly damaging Het
Keap1 T C 9: 21,145,134 (GRCm39) Q292R probably benign Het
Mab21l4 T C 1: 93,082,237 (GRCm39) N294S probably benign Het
Malt1 A C 18: 65,580,764 (GRCm39) E219D probably benign Het
Manba T C 3: 135,228,915 (GRCm39) V279A possibly damaging Het
Map4k5 T A 12: 69,921,095 (GRCm39) H41L probably benign Het
Mcm2 T G 6: 88,868,776 (GRCm39) Y327S probably damaging Het
Nectin3 A G 16: 46,215,484 (GRCm39) I503T possibly damaging Het
Nqo1 T C 8: 108,119,279 (GRCm39) I99M probably damaging Het
Nrxn2 A G 19: 6,540,582 (GRCm39) H845R probably damaging Het
Otogl C T 10: 107,599,061 (GRCm39) C2254Y probably damaging Het
Pmm1 T C 15: 81,840,415 (GRCm39) N110S probably damaging Het
Poc1b G T 10: 98,970,199 (GRCm39) C68F probably benign Het
Polr1b A G 2: 128,965,842 (GRCm39) Y828C possibly damaging Het
Prl3d1 A G 13: 27,282,619 (GRCm39) H119R probably damaging Het
Pum3 A G 19: 27,403,412 (GRCm39) S30P probably benign Het
Rgl2 T C 17: 34,153,964 (GRCm39) F457L possibly damaging Het
Rusc1 T C 3: 88,999,194 (GRCm39) E196G possibly damaging Het
Sf3a3 A G 4: 124,608,772 (GRCm39) K29E probably benign Het
Slc13a1 A T 6: 24,092,311 (GRCm39) I475K probably damaging Het
Slc26a5 G T 5: 22,042,244 (GRCm39) Y237* probably null Het
Slc7a14 C T 3: 31,281,212 (GRCm39) G366D probably damaging Het
Tbc1d5 A G 17: 51,107,110 (GRCm39) V482A probably benign Het
Tdrd5 G T 1: 156,087,505 (GRCm39) Q883K probably benign Het
Tet2 T C 3: 133,179,391 (GRCm39) Y1258C probably damaging Het
Upf2 A G 2: 6,028,131 (GRCm39) D739G unknown Het
Vmn1r122 A T 7: 20,867,820 (GRCm39) F78L probably benign Het
Vmn1r75 A T 7: 11,614,915 (GRCm39) K216* probably null Het
Vmn2r11 A T 5: 109,201,281 (GRCm39) Y408N probably damaging Het
Wscd1 T A 11: 71,679,543 (GRCm39) V472D probably damaging Het
Zdbf2 G T 1: 63,345,664 (GRCm39) V1348F possibly damaging Het
Zfp442 G T 2: 150,250,056 (GRCm39) H615Q possibly damaging Het
Zscan10 A G 17: 23,826,003 (GRCm39) probably null Het
Other mutations in Zfp457
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01329:Zfp457 APN 13 67,442,330 (GRCm39) missense possibly damaging 0.46
IGL02259:Zfp457 APN 13 67,444,471 (GRCm39) missense possibly damaging 0.88
R0055:Zfp457 UTSW 13 67,442,098 (GRCm39) missense probably damaging 0.99
R0055:Zfp457 UTSW 13 67,442,098 (GRCm39) missense probably damaging 0.99
R0149:Zfp457 UTSW 13 67,440,710 (GRCm39) missense probably damaging 0.97
R0211:Zfp457 UTSW 13 67,441,211 (GRCm39) missense probably benign 0.01
R0211:Zfp457 UTSW 13 67,441,211 (GRCm39) missense probably benign 0.01
R0230:Zfp457 UTSW 13 67,442,180 (GRCm39) missense possibly damaging 0.91
R0270:Zfp457 UTSW 13 67,441,991 (GRCm39) missense probably damaging 1.00
R0361:Zfp457 UTSW 13 67,440,710 (GRCm39) missense probably damaging 0.97
R0561:Zfp457 UTSW 13 67,442,134 (GRCm39) missense probably damaging 1.00
R0679:Zfp457 UTSW 13 67,441,655 (GRCm39) missense probably damaging 1.00
R0826:Zfp457 UTSW 13 67,441,378 (GRCm39) missense possibly damaging 0.85
R1136:Zfp457 UTSW 13 67,441,846 (GRCm39) missense probably damaging 1.00
R1175:Zfp457 UTSW 13 67,441,748 (GRCm39) missense probably damaging 1.00
R1523:Zfp457 UTSW 13 67,441,501 (GRCm39) missense probably damaging 1.00
R1616:Zfp457 UTSW 13 67,444,375 (GRCm39) missense possibly damaging 0.95
R2348:Zfp457 UTSW 13 67,441,468 (GRCm39) missense probably benign 0.33
R4930:Zfp457 UTSW 13 67,442,164 (GRCm39) missense probably damaging 1.00
R4964:Zfp457 UTSW 13 67,441,342 (GRCm39) missense probably damaging 1.00
R4966:Zfp457 UTSW 13 67,441,342 (GRCm39) missense probably damaging 1.00
R5040:Zfp457 UTSW 13 67,440,899 (GRCm39) missense probably benign 0.03
R5129:Zfp457 UTSW 13 67,441,420 (GRCm39) missense probably benign 0.00
R5714:Zfp457 UTSW 13 67,444,490 (GRCm39) missense possibly damaging 0.85
R6017:Zfp457 UTSW 13 67,441,763 (GRCm39) missense probably damaging 1.00
R6052:Zfp457 UTSW 13 67,442,015 (GRCm39) missense probably damaging 1.00
R6132:Zfp457 UTSW 13 67,441,360 (GRCm39) nonsense probably null
R6184:Zfp457 UTSW 13 67,440,976 (GRCm39) missense possibly damaging 0.89
R6313:Zfp457 UTSW 13 67,440,746 (GRCm39) missense probably damaging 1.00
R7038:Zfp457 UTSW 13 67,441,997 (GRCm39) missense probably benign 0.00
R7170:Zfp457 UTSW 13 67,442,241 (GRCm39) nonsense probably null
R7859:Zfp457 UTSW 13 67,454,445 (GRCm39) start gained probably benign
R7973:Zfp457 UTSW 13 67,441,882 (GRCm39) missense probably benign 0.20
R8308:Zfp457 UTSW 13 67,441,663 (GRCm39) missense probably benign 0.00
R8346:Zfp457 UTSW 13 67,441,862 (GRCm39) nonsense probably null
R9114:Zfp457 UTSW 13 67,442,068 (GRCm39) missense probably benign 0.16
R9205:Zfp457 UTSW 13 67,441,965 (GRCm39) missense probably benign 0.00
R9525:Zfp457 UTSW 13 67,441,492 (GRCm39) missense probably damaging 1.00
R9765:Zfp457 UTSW 13 67,440,874 (GRCm39) missense probably benign 0.10
Predicted Primers PCR Primer
(F):5'- GGATCATGGAAGGTTTTGTCACAT -3'
(R):5'- TGGCTTTCACCTATGCTGTGT -3'

Sequencing Primer
(F):5'- TGGAAGGTTTTGTCACATAATTCAC -3'
(R):5'- TCCTTCTTCACCAGGGGGAAAATG -3'
Posted On 2019-06-26