Incidental Mutation 'R0561:Zfp457'
ID 45894
Institutional Source Beutler Lab
Gene Symbol Zfp457
Ensembl Gene ENSMUSG00000055341
Gene Name zinc finger protein 457
Synonyms Rslcan-6
Accession Numbers
Essential gene? Probably non essential (E-score: 0.084) question?
Stock # R0561 (G1)
Quality Score 225
Status Not validated
Chromosome 13
Chromosomal Location 67440514-67454476 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 67442134 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Histidine to Leucine at position 147 (H147L)
Ref Sequence ENSEMBL: ENSMUSP00000053879 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000049705] [ENSMUST00000224325]
AlphaFold L7N1X4
Predicted Effect probably damaging
Transcript: ENSMUST00000049705
AA Change: H147L

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000053879
Gene: ENSMUSG00000055341
AA Change: H147L

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: H51L

PolyPhen 2 Score 0.986 (Sensitivity: 0.74; Specificity: 0.96)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000225090
Predicted Effect probably benign
Transcript: ENSMUST00000225338
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.6%
  • 10x: 96.9%
  • 20x: 94.6%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 50 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adck1 A G 12: 88,335,204 (GRCm39) D30G possibly damaging Het
Apc A T 18: 34,446,356 (GRCm39) H1050L possibly damaging Het
Armc2 A G 10: 41,869,188 (GRCm39) V166A probably benign Het
Atp6v1b1 A T 6: 83,730,793 (GRCm39) I173F probably damaging Het
Bpifb4 A G 2: 153,786,742 (GRCm39) D298G probably damaging Het
C4b T A 17: 34,953,391 (GRCm39) S1031C probably damaging Het
Calcr A G 6: 3,692,630 (GRCm39) I408T probably damaging Het
Catsperg1 T C 7: 28,881,737 (GRCm39) N1009S probably damaging Het
Ces2a T C 8: 105,464,165 (GRCm39) S266P probably benign Het
Chrna1 A G 2: 73,396,596 (GRCm39) V433A possibly damaging Het
Ctnnb1 G A 9: 120,780,788 (GRCm39) V291M probably damaging Het
Dcbld1 T C 10: 52,138,032 (GRCm39) Y99H probably benign Het
Ddx60 A T 8: 62,470,828 (GRCm39) H1440L possibly damaging Het
Dsg1c A T 18: 20,407,832 (GRCm39) I393L probably benign Het
Eif5 G T 12: 111,506,950 (GRCm39) R128L probably benign Het
Ercc3 A G 18: 32,378,592 (GRCm39) D191G possibly damaging Het
Gp1ba A T 11: 70,530,416 (GRCm39) probably benign Het
Krt24 C T 11: 99,175,439 (GRCm39) E199K probably damaging Het
Lrif1 G T 3: 106,639,481 (GRCm39) A164S probably damaging Het
Map2 A G 1: 66,464,656 (GRCm39) D1682G probably damaging Het
Megf8 C T 7: 25,028,257 (GRCm39) P274S probably benign Het
Mslnl C T 17: 25,962,177 (GRCm39) Q192* probably null Het
Nfkb2 T C 19: 46,298,301 (GRCm39) V535A possibly damaging Het
Or10q1 A T 19: 13,726,662 (GRCm39) Y64F probably damaging Het
Or4a66 A G 2: 88,530,914 (GRCm39) I253T possibly damaging Het
Or4c11 T A 2: 88,695,024 (GRCm39) V25E possibly damaging Het
Or7a37 T A 10: 78,805,729 (GRCm39) L82* probably null Het
Or8b37 G T 9: 37,959,123 (GRCm39) V202L probably benign Het
Or8g22 C T 9: 38,958,669 (GRCm39) M15I probably damaging Het
Pag1 T A 3: 9,764,481 (GRCm39) Y224F probably damaging Het
Pbrm1 A C 14: 30,757,948 (GRCm39) I193L probably benign Het
Phrf1 T C 7: 140,834,876 (GRCm39) V17A probably benign Het
Plekhg2 T G 7: 28,069,908 (GRCm39) T42P probably benign Het
Pmp22 T A 11: 63,025,250 (GRCm39) W28R probably damaging Het
Ppp1r13b A T 12: 111,832,880 (GRCm39) H82Q probably damaging Het
Rgs8 T C 1: 153,541,668 (GRCm39) probably null Het
Rtl1 A G 12: 109,560,363 (GRCm39) V492A probably damaging Het
Slc22a27 A G 19: 7,857,527 (GRCm39) probably null Het
Slx4ip A G 2: 136,908,090 (GRCm39) E79G probably null Het
Syde1 C T 10: 78,425,210 (GRCm39) R267H probably damaging Het
Tas2r114 A G 6: 131,666,758 (GRCm39) I90T probably benign Het
Tjp3 C T 10: 81,109,674 (GRCm39) G843D probably benign Het
Tln1 A T 4: 43,550,304 (GRCm39) M453K possibly damaging Het
Ttc39a A T 4: 109,297,799 (GRCm39) Y408F probably damaging Het
Usp39 T G 6: 72,313,368 (GRCm39) Q274P probably damaging Het
Uvrag C T 7: 98,537,768 (GRCm39) V476I probably damaging Het
Vcan T A 13: 89,860,372 (GRCm39) T332S probably damaging Het
Vcan T A 13: 89,879,583 (GRCm39) H22L possibly damaging Het
Wls A G 3: 159,578,705 (GRCm39) D89G probably benign Het
Zfhx2 A T 14: 55,303,346 (GRCm39) V1546E probably benign 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
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
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'- ggttttttccctgtatgaaCAATTTTGTGTTG -3'
(R):5'- GGCTTTCACCTATGCTGTGTTGTACTTA -3'

Sequencing Primer
(F):5'- attctcttatggttggaaagtcttg -3'
(R):5'- catgcaaagaatgtggcaaag -3'
Posted On 2013-06-11