Incidental Mutation 'R5129:Zfp457'
ID 394919
Institutional Source Beutler Lab
Gene Symbol Zfp457
Ensembl Gene ENSMUSG00000055341
Gene Name zinc finger protein 457
Synonyms Rslcan-6
MMRRC Submission 042717-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.081) question?
Stock # R5129 (G1)
Quality Score 225
Status Validated
Chromosome 13
Chromosomal Location 67440514-67454476 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 67441420 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamic Acid to Glycine at position 385 (E385G)
Ref Sequence ENSEMBL: ENSMUSP00000053879 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000049705] [ENSMUST00000224325]
AlphaFold L7N1X4
Predicted Effect probably benign
Transcript: ENSMUST00000049705
AA Change: E385G

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
SMART Domains Protein: ENSMUSP00000053879
Gene: ENSMUSG00000055341
AA Change: E385G

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 benign
Transcript: ENSMUST00000224325
AA Change: E289G

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000225090
Predicted Effect probably benign
Transcript: ENSMUST00000225338
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.5%
  • 10x: 96.8%
  • 20x: 93.8%
Validation Efficiency 98% (51/52)
Allele List at MGI
Other mutations in this stock
Total: 48 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930432E11Rik A G 7: 29,260,786 (GRCm39) noncoding transcript Het
Abcf1 C T 17: 36,271,687 (GRCm39) probably benign Het
Adamts14 T A 10: 61,085,397 (GRCm39) D209V probably benign Het
Aldh3b1 A G 19: 3,965,336 (GRCm39) F392L probably benign Het
Atp1a2 A T 1: 172,103,522 (GRCm39) D999E probably benign Het
Capn7 T C 14: 31,066,468 (GRCm39) V94A probably damaging Het
Cdh13 A G 8: 119,821,954 (GRCm39) D271G probably damaging Het
Cntnap5b G A 1: 100,306,815 (GRCm39) G844D probably damaging Het
Col6a4 T C 9: 105,890,576 (GRCm39) E1906G probably damaging Het
Daw1 T C 1: 83,183,624 (GRCm39) Y225H probably damaging Het
Dvl3 T A 16: 20,336,090 (GRCm39) M49K possibly damaging Het
Eef1b2 T G 1: 63,218,739 (GRCm39) S175A probably damaging Het
Epb41l1 A T 2: 156,351,201 (GRCm39) Y425F possibly damaging Het
Fam43b A T 4: 138,122,783 (GRCm39) L179* probably null Het
Fbxw28 A G 9: 109,155,671 (GRCm39) L314P probably damaging Het
Fstl4 C A 11: 53,077,266 (GRCm39) D674E probably damaging Het
G3bp1 T C 11: 55,379,942 (GRCm39) V92A possibly damaging Het
Gm3604 A T 13: 62,517,588 (GRCm39) Y257N probably benign Het
Gm5900 A G 7: 104,599,223 (GRCm39) noncoding transcript Het
Hectd4 G A 5: 121,481,573 (GRCm39) V3041M possibly damaging Het
Hivep2 A G 10: 14,006,608 (GRCm39) K1069E probably damaging Het
Hlf T C 11: 90,281,078 (GRCm39) D38G probably benign Het
Hsd3b7 C A 7: 127,400,306 (GRCm39) C18* probably null Het
Kdm5a T C 6: 120,381,983 (GRCm39) C676R probably damaging Het
Klhdc7b A G 15: 89,272,751 (GRCm39) Y1211C probably damaging Het
Krt78 C A 15: 101,856,015 (GRCm39) V599L possibly damaging Het
Mroh9 C G 1: 162,888,329 (GRCm39) G249R probably damaging Het
Nbas T C 12: 13,440,961 (GRCm39) L1097P probably damaging Het
Nf2 A C 11: 4,766,145 (GRCm39) D87E probably benign Het
Or10d4c T A 9: 39,558,790 (GRCm39) I256N probably benign Het
Or14j2 T C 17: 37,886,071 (GRCm39) Y81C probably damaging Het
Ppil3 A G 1: 58,479,992 (GRCm39) probably benign Het
Prrc2a T C 17: 35,379,154 (GRCm39) E276G unknown Het
Semp2l1 C A 1: 32,584,560 (GRCm39) R450M probably damaging Het
Semp2l1 T A 1: 32,584,561 (GRCm39) R450W probably damaging Het
Spata16 A G 3: 26,721,713 (GRCm39) E78G probably damaging Het
Tlr3 A T 8: 45,856,018 (GRCm39) I54K probably damaging Het
Tmem72 A G 6: 116,678,974 (GRCm39) L34P probably damaging Het
Triobp A G 15: 78,845,296 (GRCm39) R213G probably benign Het
Tyrp1 T A 4: 80,764,844 (GRCm39) V7D probably damaging Het
Uhrf2 A G 19: 30,052,621 (GRCm39) I372V probably benign Het
Uty T C Y: 1,158,592 (GRCm39) T484A probably benign Het
Vcan T C 13: 89,838,359 (GRCm39) D2395G probably damaging Het
Vmn1r225 T A 17: 20,723,378 (GRCm39) I273N probably damaging Het
Zfp451 C T 1: 33,842,014 (GRCm39) probably benign Het
Zfp74 C T 7: 29,631,880 (GRCm39) M121I probably benign Het
Zfp866 A T 8: 70,220,359 (GRCm39) probably null Het
Zfp874a A T 13: 67,591,100 (GRCm39) C195S probably damaging 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
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
R7184:Zfp457 UTSW 13 67,442,065 (GRCm39) missense possibly damaging 0.69
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'- ACTTCACACTTGTAGGGTTTCTCTC -3'
(R):5'- CAAATGTGAAGTTTGTGGCAAG -3'

Sequencing Primer
(F):5'- GCCACATATGTCACACTTGTAGGG -3'
(R):5'- AAGTTTGTGGCAAGACCTTCC -3'
Posted On 2016-06-21