Incidental Mutation 'R6460:Zfp54'
ID 517592
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 044595-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R6460 (G1)
Quality Score 225.009
Status Not validated
Chromosome 17
Chromosomal Location 21643489-21655646 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 21654004 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Asparagine at position 166 (I166N)
Ref Sequence ENSEMBL: ENSMUSP00000127089 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000007884] [ENSMUST00000165230] [ENSMUST00000167749]
AlphaFold E9PW05
Predicted Effect probably benign
Transcript: ENSMUST00000007884
AA Change: I166N

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000007884
Gene: ENSMUSG00000023882
AA Change: I166N

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: I166N

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000132983
Gene: ENSMUSG00000023882
AA Change: I166N

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
AA Change: I166N

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000127089
Gene: ENSMUSG00000023882
AA Change: I166N

DomainStartEndE-ValueType
KRAB 13 73 8.44e-22 SMART
ZnF_C2H2 211 233 1.69e-3 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000232563
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.6%
  • 10x: 97.9%
  • 20x: 93.8%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 54 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca7 A T 10: 79,844,862 (GRCm39) H1528L probably benign Het
Ablim1 A G 19: 57,068,271 (GRCm39) S263P possibly damaging Het
Ahnak2 T C 12: 112,750,610 (GRCm39) E104G probably null Het
Apof T A 10: 128,105,086 (GRCm39) M80K probably damaging Het
Arfgef1 C T 1: 10,283,285 (GRCm39) R208H probably damaging Het
Arhgef33 A G 17: 80,657,018 (GRCm39) probably null Het
Atxn2l CCAGCAGCAGCAGCAGCAGC CCAGCAGCAGCAGCAGC 7: 126,093,420 (GRCm39) probably benign Het
Cabcoco1 T C 10: 68,352,211 (GRCm39) K34E probably damaging Het
Col4a4 C A 1: 82,444,253 (GRCm39) G1338V unknown Het
Coq9 T A 8: 95,579,814 (GRCm39) D256E probably damaging Het
Dnajc18 A T 18: 35,833,963 (GRCm39) C41S probably benign Het
Dnajc6 A G 4: 101,472,795 (GRCm39) I307M probably damaging Het
Emg1 A G 6: 124,688,870 (GRCm39) V46A probably damaging Het
Eya3 A G 4: 132,408,174 (GRCm39) S157G probably damaging Het
Eya4 T C 10: 23,027,910 (GRCm39) N274S probably benign Het
Fan1 T A 7: 64,022,234 (GRCm39) N340Y probably damaging Het
Fat3 A G 9: 15,878,296 (GRCm39) V3395A probably damaging Het
Fchsd1 A T 18: 38,092,897 (GRCm39) probably null Het
Gm4846 A G 1: 166,325,082 (GRCm39) V3A probably benign Het
Hecw2 T A 1: 53,907,992 (GRCm39) probably null Het
Herc3 T A 6: 58,867,108 (GRCm39) I10N probably damaging Het
Hhatl C T 9: 121,618,588 (GRCm39) R138H probably benign Het
Hspa9 A T 18: 35,085,765 (GRCm39) H35Q probably benign Het
Irgq T A 7: 24,233,115 (GRCm39) S319T probably benign Het
Kif1b T C 4: 149,277,053 (GRCm39) M1337V probably benign Het
Ksr2 T A 5: 117,894,449 (GRCm39) probably null Het
Lrriq1 T C 10: 103,036,559 (GRCm39) I865V probably damaging Het
Map2k1 A G 9: 64,094,577 (GRCm39) L355P probably damaging Het
Muc16 A G 9: 18,551,812 (GRCm39) I4827T probably benign Het
Myh1 T C 11: 67,112,202 (GRCm39) V1752A probably benign Het
Nfatc2ip A G 7: 125,986,909 (GRCm39) V282A probably damaging Het
Nrg1 T A 8: 32,308,561 (GRCm39) E485V probably damaging Het
Ofcc1 T C 13: 40,441,455 (GRCm39) D2G probably damaging Het
Or10d3 CAGAG CAG 9: 39,462,088 (GRCm39) probably null Het
Pclo T C 5: 14,729,146 (GRCm39) probably benign Het
Pom121 T C 5: 135,420,537 (GRCm39) K295E unknown Het
Rb1 A C 14: 73,515,894 (GRCm39) I294R probably benign Het
Schip1 C A 3: 68,402,227 (GRCm39) S101R probably benign Het
Sec24c T A 14: 20,740,868 (GRCm39) Y629N probably damaging Het
Shkbp1 T A 7: 27,049,963 (GRCm39) H305L probably benign Het
Spag9 T C 11: 93,959,801 (GRCm39) I187T probably damaging Het
Srp72 C A 5: 77,135,838 (GRCm39) T256K probably damaging Het
Stk32c T A 7: 138,685,190 (GRCm39) N320I probably damaging Het
Stxbp4 A T 11: 90,497,811 (GRCm39) S163T probably benign Het
Sycp1 T G 3: 102,832,569 (GRCm39) Y199S probably damaging Het
Tpk1 T C 6: 43,445,961 (GRCm39) D159G probably benign Het
Trav21-dv12 C T 14: 54,114,191 (GRCm39) H104Y probably benign Het
Trip4 A T 9: 65,788,302 (GRCm39) Y48N probably damaging Het
Trmt10b A G 4: 45,314,322 (GRCm39) T255A possibly damaging Het
Ttn G A 2: 76,747,232 (GRCm39) Q4606* probably null Het
Vcan T A 13: 89,838,806 (GRCm39) K2246M possibly damaging Het
Zfp438 C A 18: 5,213,603 (GRCm39) G452C probably damaging Het
Zfp735 T C 11: 73,602,478 (GRCm39) V474A probably benign Het
Zfp831 G T 2: 174,488,360 (GRCm39) G1012W possibly 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
R1915:Zfp54 UTSW 17 21,654,414 (GRCm39) missense probably benign
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
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'- GATGCCTCTCTTGACTCATCAAAC -3'
(R):5'- TTCCAGCACGAAGTCTTTGATG -3'

Sequencing Primer
(F):5'- TCTCTTGACTCATCAAACCCAGATAG -3'
(R):5'- CGATGTTCTTTAAGACTTGAGCACTC -3'
Posted On 2018-05-21