Incidental Mutation 'R1915:Zfp54'
ID 214813
Institutional Source Beutler Lab
Gene Symbol Zfp54
Ensembl Gene ENSMUSG00000023882
Gene Name zinc finger protein 54
Synonyms Zfp-54, Zfp76, KRAB10, clone 18
MMRRC Submission 039933-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R1915 (G1)
Quality Score 225
Status Validated
Chromosome 17
Chromosomal Location 21643489-21655646 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 21654414 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Histidine at position 303 (Y303H)
Ref Sequence ENSEMBL: ENSMUSP00000132983 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000007884] [ENSMUST00000165230] [ENSMUST00000167749]
AlphaFold E9PW05
Predicted Effect probably benign
Transcript: ENSMUST00000007884
AA Change: Y303H

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000007884
Gene: ENSMUSG00000023882
AA Change: Y303H

DomainStartEndE-ValueType
KRAB 13 73 8.44e-22 SMART
ZnF_C2H2 211 233 1.69e-3 SMART
ZnF_C2H2 243 265 6.88e-4 SMART
ZnF_C2H2 271 293 2.12e-4 SMART
ZnF_C2H2 299 321 6.67e-2 SMART
ZnF_C2H2 327 349 7.67e-2 SMART
ZnF_C2H2 355 377 2.71e-2 SMART
ZnF_C2H2 383 403 6.24e0 SMART
ZnF_C2H2 411 433 5.99e-4 SMART
ZnF_C2H2 439 461 1.69e-3 SMART
ZnF_C2H2 467 489 2.43e-4 SMART
ZnF_C2H2 495 517 2.3e-5 SMART
ZnF_C2H2 523 545 8.22e-2 SMART
ZnF_C2H2 551 573 4.17e-3 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000165230
AA Change: Y303H

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000132983
Gene: ENSMUSG00000023882
AA Change: Y303H

DomainStartEndE-ValueType
KRAB 13 73 8.44e-22 SMART
ZnF_C2H2 211 233 1.69e-3 SMART
ZnF_C2H2 243 265 6.88e-4 SMART
ZnF_C2H2 271 293 2.12e-4 SMART
ZnF_C2H2 299 321 6.67e-2 SMART
ZnF_C2H2 327 349 7.67e-2 SMART
ZnF_C2H2 355 377 2.71e-2 SMART
ZnF_C2H2 383 403 6.24e0 SMART
ZnF_C2H2 411 433 5.99e-4 SMART
ZnF_C2H2 439 461 1.69e-3 SMART
ZnF_C2H2 467 489 2.43e-4 SMART
ZnF_C2H2 495 517 2.3e-5 SMART
ZnF_C2H2 523 545 8.22e-2 SMART
ZnF_C2H2 551 573 4.17e-3 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000167749
SMART Domains Protein: ENSMUSP00000127089
Gene: ENSMUSG00000023882

DomainStartEndE-ValueType
KRAB 13 73 8.44e-22 SMART
ZnF_C2H2 211 233 1.69e-3 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000232563
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
  • 1x: 97.5%
  • 3x: 97.0%
  • 10x: 95.6%
  • 20x: 93.4%
Validation Efficiency 100% (85/85)
Allele List at MGI
Other mutations in this stock
Total: 83 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca6 T C 11: 110,103,036 (GRCm39) R852G probably benign Het
Adam2 C A 14: 66,275,006 (GRCm39) V576F possibly damaging Het
Afmid T C 11: 117,726,625 (GRCm39) F250L possibly damaging Het
Apc2 A T 10: 80,151,701 (GRCm39) I2252L probably benign Het
Bcar1 A G 8: 112,442,030 (GRCm39) V270A probably damaging Het
Btnl7-ps T A 17: 34,760,619 (GRCm39) noncoding transcript Het
Cdkn2aip T C 8: 48,164,961 (GRCm39) T251A probably benign Het
Cdx1 A G 18: 61,152,970 (GRCm39) V212A probably benign Het
Cep95 C T 11: 106,705,464 (GRCm39) T483I probably damaging Het
Cfap100 T C 6: 90,389,329 (GRCm39) probably benign Het
Cfap54 A G 10: 92,720,564 (GRCm39) V2630A unknown Het
Chia1 T A 3: 106,035,875 (GRCm39) N238K probably benign Het
Cldn23 T A 8: 36,293,099 (GRCm39) I130F possibly damaging Het
Cntrl T C 2: 35,052,873 (GRCm39) M1126T probably benign Het
Col28a1 A G 6: 8,176,333 (GRCm39) F8S probably benign Het
Cpeb3 C T 19: 37,031,665 (GRCm39) R579Q probably damaging Het
Creld2 G A 15: 88,704,834 (GRCm39) W103* probably null Het
Dbh A G 2: 27,058,234 (GRCm39) D134G probably damaging Het
Dcbld1 G T 10: 52,193,131 (GRCm39) C292F probably damaging Het
Dlgap5 T C 14: 47,645,230 (GRCm39) K304E probably benign Het
Dnajc2 A G 5: 21,986,317 (GRCm39) probably null Het
Eps8l2 G A 7: 140,941,765 (GRCm39) V650M probably damaging Het
Erlin1 T C 19: 44,047,504 (GRCm39) Y139C probably damaging Het
Exoc3 A G 13: 74,321,413 (GRCm39) probably null Het
F5 C A 1: 164,010,486 (GRCm39) R406S probably damaging Het
Fahd1 A T 17: 25,068,622 (GRCm39) W152R possibly damaging Het
Farp2 T A 1: 93,456,424 (GRCm39) S36T probably benign Het
Foxs1 A G 2: 152,774,760 (GRCm39) C98R probably damaging Het
Gal3st4 T A 5: 138,263,672 (GRCm39) K442N probably benign Het
Gm10644 G A 8: 84,660,479 (GRCm39) probably benign Het
Gm8674 A T 13: 50,054,889 (GRCm39) noncoding transcript Het
Gpr88 G T 3: 116,046,073 (GRCm39) S79R possibly damaging Het
Heatr9 T G 11: 83,409,035 (GRCm39) I171L possibly damaging Het
Hectd4 A G 5: 121,460,357 (GRCm39) T2209A probably benign Het
Hsh2d A G 8: 72,947,365 (GRCm39) T21A probably damaging Het
Irf4 A T 13: 30,945,445 (GRCm39) Q397L probably benign Het
Itgae T A 11: 73,009,469 (GRCm39) probably benign Het
Jrkl A T 9: 13,245,609 (GRCm39) D17E possibly damaging Het
Kcna4 T C 2: 107,127,123 (GRCm39) V619A probably benign Het
Kcnh6 T A 11: 105,908,270 (GRCm39) Y295* probably null Het
Kif1b G A 4: 149,351,673 (GRCm39) T263I probably damaging Het
Large2 G T 2: 92,196,170 (GRCm39) probably benign Het
Lcp1 T A 14: 75,436,737 (GRCm39) Y28N possibly damaging Het
Man1c1 G C 4: 134,430,749 (GRCm39) P11R probably damaging Het
Mccc2 T C 13: 100,085,038 (GRCm39) probably null Het
Mlh3 T C 12: 85,308,442 (GRCm39) Y1115C probably benign Het
Mlst8 C T 17: 24,696,264 (GRCm39) W155* probably null Het
Myh10 T C 11: 68,681,034 (GRCm39) L1025P probably damaging Het
Myof T A 19: 37,966,141 (GRCm39) N393I probably damaging Het
Nalcn C T 14: 123,540,181 (GRCm39) V1140I probably benign Het
Ncald C T 15: 37,397,324 (GRCm39) A119T probably benign Het
Nipbl T C 15: 8,373,114 (GRCm39) E1044G possibly damaging Het
Nup58 T C 14: 60,475,980 (GRCm39) K279R probably benign Het
Oas1a A T 5: 121,043,876 (GRCm39) N85K possibly damaging Het
Or11g1 C T 14: 50,651,798 (GRCm39) P266S probably damaging Het
Or8b12i T C 9: 20,082,324 (GRCm39) Y181C probably benign Het
Or8k30 A G 2: 86,339,343 (GRCm39) D180G probably damaging Het
Pou2f2 C T 7: 24,799,581 (GRCm39) A92T possibly damaging Het
Ppp1r16a T C 15: 76,577,268 (GRCm39) L212P probably damaging Het
Pram1 A T 17: 33,860,131 (GRCm39) I233F probably benign Het
Ptbp3 A T 4: 59,517,635 (GRCm39) L84Q probably damaging Het
Ptgr2 A T 12: 84,349,096 (GRCm39) Q145L probably benign Het
Ptpn23 A T 9: 110,215,575 (GRCm39) D1396E probably damaging Het
Pudp T C 18: 50,701,278 (GRCm39) N152D probably benign Het
Rbm20 T A 19: 53,852,518 (GRCm39) L1166Q probably damaging Het
Rictor T G 15: 6,789,053 (GRCm39) I223R probably damaging Het
Ripor1 A T 8: 106,343,518 (GRCm39) E270D probably damaging Het
Rorc T C 3: 94,298,480 (GRCm39) C322R probably damaging Het
Rpgrip1l T C 8: 91,959,552 (GRCm39) D1116G probably benign Het
Rsf1 GCG GCGACGGCGACG 7: 97,229,114 (GRCm39) probably benign Het
Sptan1 C G 2: 29,901,048 (GRCm39) Q1425E probably benign Het
Srd5a3 G A 5: 76,295,552 (GRCm39) V81I probably benign Het
Stk36 T A 1: 74,673,346 (GRCm39) S1080T probably benign Het
Sugp2 T A 8: 70,706,310 (GRCm39) I790K probably damaging Het
Syde2 T G 3: 145,720,071 (GRCm39) Y764* probably null Het
Tmem130 A G 5: 144,674,666 (GRCm39) F353S probably damaging Het
Tmem131 T A 1: 36,835,347 (GRCm39) K1591N probably damaging Het
Urb2 C A 8: 124,756,537 (GRCm39) T748K possibly damaging Het
Uri1 A T 7: 37,661,103 (GRCm39) I480K probably damaging Het
Zcchc3 A C 2: 152,255,601 (GRCm39) V366G probably benign Het
Zfp292 G A 4: 34,805,100 (GRCm39) S2648F possibly damaging Het
Zfp729b A G 13: 67,741,339 (GRCm39) F319L probably damaging Het
Zfp934 G A 13: 62,665,769 (GRCm39) H291Y probably damaging Het
Other mutations in Zfp54
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00226:Zfp54 APN 17 21,653,821 (GRCm39) missense possibly damaging 0.62
IGL00425:Zfp54 APN 17 21,650,559 (GRCm39) missense probably damaging 1.00
IGL02830:Zfp54 APN 17 21,653,718 (GRCm39) missense probably damaging 1.00
IGL03037:Zfp54 APN 17 21,650,477 (GRCm39) missense probably damaging 0.99
R1853:Zfp54 UTSW 17 21,654,404 (GRCm39) nonsense probably null
R1855:Zfp54 UTSW 17 21,654,404 (GRCm39) nonsense probably null
R3803:Zfp54 UTSW 17 21,653,814 (GRCm39) missense possibly damaging 0.58
R4430:Zfp54 UTSW 17 21,655,222 (GRCm39) missense probably damaging 0.98
R4724:Zfp54 UTSW 17 21,653,665 (GRCm39) missense probably damaging 0.96
R4799:Zfp54 UTSW 17 21,654,402 (GRCm39) missense probably damaging 1.00
R5197:Zfp54 UTSW 17 21,654,442 (GRCm39) missense probably benign 0.12
R5400:Zfp54 UTSW 17 21,653,962 (GRCm39) missense probably benign 0.05
R5422:Zfp54 UTSW 17 21,654,788 (GRCm39) missense probably benign 0.00
R5566:Zfp54 UTSW 17 21,653,706 (GRCm39) missense probably damaging 0.99
R6460:Zfp54 UTSW 17 21,654,004 (GRCm39) missense probably benign
R6528:Zfp54 UTSW 17 21,653,736 (GRCm39) nonsense probably null
R6876:Zfp54 UTSW 17 21,654,239 (GRCm39) missense probably damaging 1.00
R7296:Zfp54 UTSW 17 21,653,844 (GRCm39) missense probably benign 0.11
R7342:Zfp54 UTSW 17 21,648,014 (GRCm39) start gained probably benign
R7660:Zfp54 UTSW 17 21,654,501 (GRCm39) missense probably damaging 1.00
R7701:Zfp54 UTSW 17 21,654,357 (GRCm39) missense probably benign 0.02
R7796:Zfp54 UTSW 17 21,654,982 (GRCm39) missense probably damaging 1.00
R8087:Zfp54 UTSW 17 21,655,260 (GRCm39) missense probably damaging 0.99
R8412:Zfp54 UTSW 17 21,654,910 (GRCm39) missense probably benign 0.03
R9224:Zfp54 UTSW 17 21,654,037 (GRCm39) missense probably benign 0.13
R9509:Zfp54 UTSW 17 21,654,629 (GRCm39) nonsense probably null
R9578:Zfp54 UTSW 17 21,655,186 (GRCm39) missense probably damaging 1.00
R9758:Zfp54 UTSW 17 21,654,149 (GRCm39) missense probably benign 0.17
Predicted Primers PCR Primer
(F):5'- TGACCATTTCATCTCTACACACAGT -3'
(R):5'- GGACTTACCACACTCTTTGCATT -3'

Sequencing Primer
(F):5'- CATCAAAGACTTCGTGCTGG -3'
(R):5'- ACACTCTTTGCATTTGTGTGATTTC -3'
Posted On 2014-07-14