Incidental Mutation 'R6052:Zfp457'
ID 484183
Institutional Source Beutler Lab
Gene Symbol Zfp457
Ensembl Gene ENSMUSG00000055341
Gene Name zinc finger protein 457
Synonyms Rslcan-6
MMRRC Submission 044220-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.084) question?
Stock # R6052 (G1)
Quality Score 225.009
Status Validated
Chromosome 13
Chromosomal Location 67440514-67454476 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 67442015 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Histidine to Tyrosine at position 91 (H91Y)
Ref Sequence ENSEMBL: ENSMUSP00000153220 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000049705] [ENSMUST00000224325]
AlphaFold L7N1X4
Predicted Effect probably damaging
Transcript: ENSMUST00000049705
AA Change: H187Y

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000053879
Gene: ENSMUSG00000055341
AA Change: H187Y

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: H91Y

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000225090
Predicted Effect probably benign
Transcript: ENSMUST00000225338
Meta Mutation Damage Score 0.1835 question?
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.6%
  • 10x: 98.2%
  • 20x: 94.7%
Validation Efficiency 96% (80/83)
Allele List at MGI
Other mutations in this stock
Total: 80 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca17 A G 17: 24,537,165 (GRCm39) F473L probably benign Het
Ankrd17 T C 5: 90,401,691 (GRCm39) I1449V probably benign Het
Aox4 T A 1: 58,293,477 (GRCm39) L943* probably null Het
Arap1 G A 7: 101,053,240 (GRCm39) V1257M probably damaging Het
B3gnt9 T C 8: 105,981,230 (GRCm39) S53G probably benign Het
Baiap3 A T 17: 25,467,444 (GRCm39) probably benign Het
Canx T C 11: 50,187,946 (GRCm39) D554G possibly damaging Het
Cbfa2t2 T C 2: 154,352,501 (GRCm39) V165A probably damaging Het
Ccdc17 C T 4: 116,457,145 (GRCm39) probably null Het
Cdcp1 A G 9: 123,014,396 (GRCm39) I126T probably benign Het
Cdk13 A T 13: 17,895,800 (GRCm39) D1036E probably damaging Het
Cfap157 A G 2: 32,669,863 (GRCm39) L240P probably damaging Het
Clec18a C A 8: 111,805,448 (GRCm39) E218* probably null Het
Col3a1 T C 1: 45,384,173 (GRCm39) probably benign Het
Dennd4a A G 9: 64,794,227 (GRCm39) E682G probably damaging Het
Dnah14 T C 1: 181,494,052 (GRCm39) V1736A possibly damaging Het
Dpep2 T A 8: 106,717,270 (GRCm39) D162V possibly damaging Het
Drd3 C A 16: 43,641,646 (GRCm39) P321T probably benign Het
Egfr A G 11: 16,861,554 (GRCm39) H1111R probably benign Het
Entpd1 T C 19: 40,708,928 (GRCm39) S58P probably damaging Het
Epha3 C A 16: 63,423,967 (GRCm39) V541L possibly damaging Het
Eri3 T A 4: 117,421,825 (GRCm39) D34E probably damaging Het
Eya1 T C 1: 14,353,374 (GRCm39) D58G probably damaging Het
Fat3 T A 9: 15,833,975 (GRCm39) S26C probably null Het
Fgl1 T C 8: 41,653,548 (GRCm39) D115G probably damaging Het
Fitm2 T C 2: 163,312,036 (GRCm39) Y59C probably damaging Het
Fras1 T A 5: 96,912,725 (GRCm39) I3343N probably damaging Het
Gba2 C A 4: 43,568,330 (GRCm39) C679F probably damaging Het
Glis2 G A 16: 4,431,603 (GRCm39) probably benign Het
Gm5150 T A 3: 16,044,917 (GRCm39) I103F probably damaging Het
Hhipl2 T C 1: 183,204,965 (GRCm39) S313P possibly damaging Het
Hmgcs1 A G 13: 120,166,995 (GRCm39) D474G probably benign Het
Homer3 C T 8: 70,744,076 (GRCm39) Q267* probably null Het
Hsd17b8 A G 17: 34,246,429 (GRCm39) L118P probably damaging Het
Igkv8-28 C T 6: 70,120,673 (GRCm39) G90D probably damaging Het
Kalrn T A 16: 34,181,255 (GRCm39) I128F probably damaging Het
Krt4 A G 15: 101,831,194 (GRCm39) probably null Het
Lamb2 T A 9: 108,364,811 (GRCm39) C1188* probably null Het
Lsr A T 7: 30,658,042 (GRCm39) M355K probably damaging Het
Map3k11 T G 19: 5,747,430 (GRCm39) D555E probably benign Het
Myocd A G 11: 65,087,082 (GRCm39) Y282H probably damaging Het
Nae1 T C 8: 105,261,176 (GRCm39) I7M probably benign Het
Nprl3 G T 11: 32,205,453 (GRCm39) H102N possibly damaging Het
Nup62 T A 7: 44,478,464 (GRCm39) F160I possibly damaging Het
Or10w1 C A 19: 13,631,871 (GRCm39) P26Q possibly damaging Het
Or2d3c A T 7: 106,525,896 (GRCm39) F257I probably benign Het
Or2r2 T A 6: 42,463,588 (GRCm39) T180S possibly damaging Het
Or5p76 A G 7: 108,122,945 (GRCm39) S71P probably benign Het
Or6c35 C A 10: 129,169,071 (GRCm39) T107K possibly damaging Het
Osbpl10 T C 9: 114,896,383 (GRCm39) probably null Het
Pcdh9 C T 14: 94,123,282 (GRCm39) V963I probably benign Het
Phf12 A G 11: 77,909,044 (GRCm39) R375G probably benign Het
Piezo1 G A 8: 123,233,008 (GRCm39) T108M probably damaging Het
Plxnc1 T A 10: 94,779,635 (GRCm39) Q269L probably benign Het
Pomgnt1 T A 4: 116,008,799 (GRCm39) N11K possibly damaging Het
Pramel22 T A 4: 143,382,222 (GRCm39) D158V probably damaging Het
Prkd1 A T 12: 50,413,083 (GRCm39) probably null Het
Prpf40a T C 2: 53,049,293 (GRCm39) T190A probably benign Het
Prrc2b A C 2: 32,102,297 (GRCm39) H790P possibly damaging Het
Rest T G 5: 77,429,027 (GRCm39) V482G probably benign Het
Ros1 T A 10: 52,039,999 (GRCm39) I322L probably benign Het
Rpl18 G A 7: 45,369,554 (GRCm39) probably benign Het
Rsad2 G A 12: 26,500,577 (GRCm39) H237Y probably benign Het
Sbf2 A G 7: 110,040,741 (GRCm39) L362S probably damaging Het
Sgsm3 A G 15: 80,893,464 (GRCm39) T409A probably benign Het
Slc16a14 T C 1: 84,890,430 (GRCm39) T292A possibly damaging Het
Spg11 T G 2: 121,927,837 (GRCm39) K649T probably damaging Het
Srprb T A 9: 103,067,415 (GRCm39) I268F possibly damaging Het
Tap2 G A 17: 34,433,683 (GRCm39) G566S probably damaging Het
Tecpr2 T C 12: 110,885,325 (GRCm39) V168A possibly damaging Het
Tln1 G C 4: 43,555,052 (GRCm39) F259L probably damaging Het
Tmem181a T A 17: 6,330,890 (GRCm39) L50H probably damaging Het
Tshz1 A G 18: 84,032,194 (GRCm39) I738T probably damaging Het
Tspan12 T C 6: 21,772,637 (GRCm39) E304G probably benign Het
Urb1 C T 16: 90,559,271 (GRCm39) G1671S probably damaging Het
Vmn2r2 T C 3: 64,024,782 (GRCm39) S600G possibly damaging Het
Wnt3 C A 11: 103,699,000 (GRCm39) Y35* probably null Het
Xpo7 T C 14: 70,921,159 (GRCm39) Y603C possibly damaging Het
Zfp664 T A 5: 124,963,250 (GRCm39) C215S unknown Het
Zfp882 G A 8: 72,668,349 (GRCm39) G392D 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
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
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'- CCACAAACTTCACATTTGTAGGGC -3'
(R):5'- CATCGTTACTTTCTGCACACAAAAG -3'

Sequencing Primer
(F):5'- CAAACTTCACATTTGTAGGGCTTTTC -3'
(R):5'- TTTCTGCACACAAAAGAAAGCATAC -3'
Posted On 2017-07-14