Incidental Mutation 'R6114:Zfp536'
ID 485016
Institutional Source Beutler Lab
Gene Symbol Zfp536
Ensembl Gene ENSMUSG00000043456
Gene Name zinc finger protein 536
Synonyms 9630010P11Rik
MMRRC Submission 044263-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R6114 (G1)
Quality Score 225.009
Status Validated
Chromosome 7
Chromosomal Location 37017449-37473066 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 37179161 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Asparagine at position 84 (I84N)
Ref Sequence ENSEMBL: ENSMUSP00000135234 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000056338] [ENSMUST00000175941] [ENSMUST00000176114] [ENSMUST00000176129] [ENSMUST00000176205]
AlphaFold Q8K083
Predicted Effect possibly damaging
Transcript: ENSMUST00000056338
AA Change: I1148N

PolyPhen 2 Score 0.542 (Sensitivity: 0.88; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000058468
Gene: ENSMUSG00000043456
AA Change: I1148N

DomainStartEndE-ValueType
ZnF_C2H2 130 152 5.14e-3 SMART
ZnF_C2H2 158 180 8.47e-4 SMART
low complexity region 193 205 N/A INTRINSIC
ZnF_C2H2 274 297 1.03e-2 SMART
ZnF_C2H2 300 323 4.4e-2 SMART
ZnF_C2H2 345 367 3.69e-4 SMART
ZnF_C2H2 373 395 1.26e-2 SMART
ZnF_C2H2 631 653 2.91e-2 SMART
Pfam:zf-C2H2_assoc 657 739 6.6e-43 PFAM
ZnF_C2H2 753 775 6.78e-3 SMART
ZnF_C2H2 781 803 7.26e-3 SMART
low complexity region 928 941 N/A INTRINSIC
ZnF_C2H2 1002 1025 7.29e0 SMART
low complexity region 1198 1212 N/A INTRINSIC
Predicted Effect possibly damaging
Transcript: ENSMUST00000175941
AA Change: I1148N

PolyPhen 2 Score 0.542 (Sensitivity: 0.88; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000134778
Gene: ENSMUSG00000043456
AA Change: I1148N

DomainStartEndE-ValueType
ZnF_C2H2 130 152 5.14e-3 SMART
ZnF_C2H2 158 180 8.47e-4 SMART
low complexity region 193 205 N/A INTRINSIC
ZnF_C2H2 274 297 1.03e-2 SMART
ZnF_C2H2 300 323 4.4e-2 SMART
ZnF_C2H2 345 367 3.69e-4 SMART
ZnF_C2H2 373 395 1.26e-2 SMART
ZnF_C2H2 631 653 2.91e-2 SMART
low complexity region 716 725 N/A INTRINSIC
ZnF_C2H2 753 775 6.78e-3 SMART
ZnF_C2H2 781 803 7.26e-3 SMART
low complexity region 928 941 N/A INTRINSIC
ZnF_C2H2 1002 1025 7.29e0 SMART
low complexity region 1198 1212 N/A INTRINSIC
Predicted Effect possibly damaging
Transcript: ENSMUST00000176114
AA Change: I1148N

PolyPhen 2 Score 0.542 (Sensitivity: 0.88; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000135681
Gene: ENSMUSG00000043456
AA Change: I1148N

DomainStartEndE-ValueType
ZnF_C2H2 130 152 5.14e-3 SMART
ZnF_C2H2 158 180 8.47e-4 SMART
low complexity region 193 205 N/A INTRINSIC
ZnF_C2H2 274 297 1.03e-2 SMART
ZnF_C2H2 300 323 4.4e-2 SMART
ZnF_C2H2 345 367 3.69e-4 SMART
ZnF_C2H2 373 395 1.26e-2 SMART
ZnF_C2H2 631 653 2.91e-2 SMART
low complexity region 716 725 N/A INTRINSIC
ZnF_C2H2 753 775 6.78e-3 SMART
ZnF_C2H2 781 803 7.26e-3 SMART
low complexity region 928 941 N/A INTRINSIC
ZnF_C2H2 1002 1025 7.29e0 SMART
low complexity region 1198 1212 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000176129
AA Change: I84N

PolyPhen 2 Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000135234
Gene: ENSMUSG00000043456
AA Change: I84N

DomainStartEndE-ValueType
low complexity region 134 148 N/A INTRINSIC
Predicted Effect possibly damaging
Transcript: ENSMUST00000176205
AA Change: I1148N

PolyPhen 2 Score 0.542 (Sensitivity: 0.88; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000135068
Gene: ENSMUSG00000043456
AA Change: I1148N

DomainStartEndE-ValueType
ZnF_C2H2 130 152 5.14e-3 SMART
ZnF_C2H2 158 180 8.47e-4 SMART
low complexity region 193 205 N/A INTRINSIC
ZnF_C2H2 274 297 1.03e-2 SMART
ZnF_C2H2 300 323 4.4e-2 SMART
ZnF_C2H2 345 367 3.69e-4 SMART
ZnF_C2H2 373 395 1.26e-2 SMART
ZnF_C2H2 631 653 2.91e-2 SMART
low complexity region 716 725 N/A INTRINSIC
ZnF_C2H2 753 775 6.78e-3 SMART
ZnF_C2H2 781 803 7.26e-3 SMART
low complexity region 928 941 N/A INTRINSIC
ZnF_C2H2 1002 1025 7.29e0 SMART
low complexity region 1198 1212 N/A INTRINSIC
Meta Mutation Damage Score 0.0825 question?
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.6%
  • 10x: 98.0%
  • 20x: 94.0%
Validation Efficiency 94% (60/64)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a highly conserved zinc finger protein. The encoded protein is most abundant in brain, where it negatively regulates neuronal differentiation. [provided by RefSeq, Sep 2015]
Allele List at MGI
Other mutations in this stock
Total: 63 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adamdec1 C A 14: 68,809,252 (GRCm39) V237L probably benign Het
Aff1 T C 5: 103,990,163 (GRCm39) S878P probably damaging Het
Ahcy A C 2: 154,904,079 (GRCm39) L386R probably damaging Het
Ank2 T C 3: 126,804,700 (GRCm39) N607D probably damaging Het
Arid5b T C 10: 67,933,574 (GRCm39) D776G possibly damaging Het
Art4 T A 6: 136,834,211 (GRCm39) T11S unknown Het
Blm T C 7: 80,163,235 (GRCm39) T39A probably damaging Het
Cabin1 T A 10: 75,583,805 (GRCm39) M221L probably benign Het
Cacna1c T C 6: 118,573,101 (GRCm39) T1675A probably benign Het
Cacnb2 A T 2: 14,980,012 (GRCm39) H285L possibly damaging Het
Cchcr1 A G 17: 35,836,227 (GRCm39) E339G probably damaging Het
Cd14 A G 18: 36,859,006 (GRCm39) W150R probably damaging Het
Cep162 A G 9: 87,085,763 (GRCm39) I1187T probably benign Het
Cntnap4 A G 8: 113,568,385 (GRCm39) H807R probably damaging Het
Copb1 T A 7: 113,846,036 (GRCm39) H178L probably benign Het
Cpxm2 A G 7: 131,756,035 (GRCm39) V103A probably benign Het
Egfr A G 11: 16,854,374 (GRCm39) T849A possibly damaging Het
Endou T A 15: 97,611,757 (GRCm39) K294* probably null Het
Hoxd9 A G 2: 74,529,709 (GRCm39) N322D probably damaging Het
Hsph1 C A 5: 149,550,852 (GRCm39) V416L possibly damaging Het
Igkv4-78 T A 6: 69,036,743 (GRCm39) T97S possibly damaging Het
Itga10 G T 3: 96,556,351 (GRCm39) C162F probably damaging Het
Lmod2 A G 6: 24,603,691 (GRCm39) E222G probably damaging Het
Lpar5 A G 6: 125,058,639 (GRCm39) N120S probably damaging Het
Lrrc37 T A 11: 103,508,617 (GRCm39) probably benign Het
Lrrk2 A G 15: 91,632,029 (GRCm39) I1318V probably benign Het
Lst1 T C 17: 35,407,336 (GRCm39) T11A possibly damaging Het
Mfn1 C A 3: 32,617,985 (GRCm39) A106D probably damaging Het
Ms4a12 G T 19: 11,192,654 (GRCm39) N227K probably benign Het
Nr1h4 T A 10: 89,314,678 (GRCm39) N273Y possibly damaging Het
Nrdc A T 4: 108,901,782 (GRCm39) K617M probably damaging Het
Or10a3b A T 7: 108,444,593 (GRCm39) M208K possibly damaging Het
Or1l8 A T 2: 36,817,701 (GRCm39) C142S possibly damaging Het
Or6c202 T A 10: 128,996,202 (GRCm39) H217L probably benign Het
Pcdhgc3 C G 18: 37,940,925 (GRCm39) T442R probably benign Het
Pcnx2 T C 8: 126,500,686 (GRCm39) N1468S probably damaging Het
Pde2a A T 7: 101,160,319 (GRCm39) probably null Het
Pitx2 C G 3: 128,998,062 (GRCm39) probably null Het
Reck T A 4: 43,922,895 (GRCm39) I390N probably damaging Het
Rora A G 9: 69,278,605 (GRCm39) N254S probably benign Het
Samd4b A G 7: 28,222,217 (GRCm39) probably null Het
Scn8a A G 15: 100,938,477 (GRCm39) T1949A probably damaging Het
Slc22a15 A T 3: 101,768,168 (GRCm39) Y346* probably null Het
Slc24a5 A G 2: 124,925,012 (GRCm39) T218A probably benign Het
Slc38a10 G A 11: 120,020,138 (GRCm39) Q305* probably null Het
Slc45a4 G A 15: 73,477,453 (GRCm39) P28S probably damaging Het
Smyd5 A T 6: 85,417,244 (GRCm39) probably benign Het
Sox8 T C 17: 25,786,494 (GRCm39) D403G probably damaging Het
Stx7 A G 10: 24,060,883 (GRCm39) probably null Het
Svil T C 18: 5,108,639 (GRCm39) S1522P probably damaging Het
Sycp2 G C 2: 177,990,038 (GRCm39) R1403G probably benign Het
Tasor2 G A 13: 3,640,081 (GRCm39) T352M probably damaging Het
Tcf25 A T 8: 124,111,114 (GRCm39) K192M probably damaging Het
Tecpr1 C T 5: 144,141,458 (GRCm39) G804S possibly damaging Het
Teddm1a C G 1: 153,767,614 (GRCm39) S26C probably damaging Het
Usp13 C T 3: 32,908,818 (GRCm39) P155S probably damaging Het
Usp17lb T A 7: 104,489,571 (GRCm39) D451V possibly damaging Het
Vmn1r173 A G 7: 23,402,254 (GRCm39) N163S possibly damaging Het
Vmn2r103 G T 17: 20,032,587 (GRCm39) C787F probably damaging Het
Vmn2r106 G A 17: 20,488,638 (GRCm39) P587L probably benign Het
Wdr24 C T 17: 26,043,579 (GRCm39) H134Y probably benign Het
Zbtb40 T A 4: 136,716,002 (GRCm39) I988F probably damaging Het
Zbtb47 T A 9: 121,594,661 (GRCm39) F540Y probably damaging Het
Other mutations in Zfp536
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01075:Zfp536 APN 7 37,267,315 (GRCm39) missense probably damaging 0.99
IGL02729:Zfp536 APN 7 37,193,143 (GRCm39) missense probably damaging 1.00
PIT4453001:Zfp536 UTSW 7 37,179,182 (GRCm39) missense probably benign 0.08
R0211:Zfp536 UTSW 7 37,267,874 (GRCm39) missense probably damaging 1.00
R0369:Zfp536 UTSW 7 37,267,373 (GRCm39) missense probably damaging 1.00
R0504:Zfp536 UTSW 7 37,268,243 (GRCm39) missense probably damaging 1.00
R0554:Zfp536 UTSW 7 37,180,244 (GRCm39) missense probably damaging 1.00
R1171:Zfp536 UTSW 7 37,269,059 (GRCm39) missense probably damaging 1.00
R1462:Zfp536 UTSW 7 37,178,735 (GRCm39) missense probably damaging 1.00
R1462:Zfp536 UTSW 7 37,178,735 (GRCm39) missense probably damaging 1.00
R1699:Zfp536 UTSW 7 37,268,879 (GRCm39) missense probably damaging 1.00
R1817:Zfp536 UTSW 7 37,268,042 (GRCm39) missense probably damaging 1.00
R1918:Zfp536 UTSW 7 37,179,624 (GRCm39) missense probably damaging 1.00
R2252:Zfp536 UTSW 7 37,178,814 (GRCm39) missense probably benign 0.30
R2288:Zfp536 UTSW 7 37,179,773 (GRCm39) missense probably damaging 0.98
R2509:Zfp536 UTSW 7 37,267,403 (GRCm39) missense possibly damaging 0.87
R3967:Zfp536 UTSW 7 37,173,255 (GRCm39) makesense probably null
R4039:Zfp536 UTSW 7 37,268,975 (GRCm39) missense probably damaging 1.00
R4600:Zfp536 UTSW 7 37,267,918 (GRCm39) missense probably damaging 1.00
R4706:Zfp536 UTSW 7 37,268,891 (GRCm39) missense probably damaging 1.00
R4771:Zfp536 UTSW 7 37,268,309 (GRCm39) missense probably damaging 1.00
R4808:Zfp536 UTSW 7 37,178,730 (GRCm39) missense probably damaging 1.00
R4945:Zfp536 UTSW 7 37,269,161 (GRCm39) missense probably damaging 1.00
R5196:Zfp536 UTSW 7 37,180,185 (GRCm39) missense probably damaging 1.00
R5506:Zfp536 UTSW 7 37,268,217 (GRCm39) missense probably damaging 1.00
R5816:Zfp536 UTSW 7 37,180,053 (GRCm39) missense probably damaging 1.00
R6131:Zfp536 UTSW 7 37,269,137 (GRCm39) missense probably damaging 1.00
R6156:Zfp536 UTSW 7 37,173,281 (GRCm39) missense unknown
R6257:Zfp536 UTSW 7 37,179,830 (GRCm39) missense probably damaging 1.00
R6864:Zfp536 UTSW 7 37,267,940 (GRCm39) missense probably damaging 1.00
R6975:Zfp536 UTSW 7 37,267,952 (GRCm39) missense probably damaging 1.00
R6976:Zfp536 UTSW 7 37,179,828 (GRCm39) missense probably damaging 1.00
R7176:Zfp536 UTSW 7 37,180,276 (GRCm39) critical splice acceptor site probably null
R7247:Zfp536 UTSW 7 37,268,631 (GRCm39) missense probably benign 0.04
R7325:Zfp536 UTSW 7 37,179,285 (GRCm39) missense probably benign
R7650:Zfp536 UTSW 7 37,269,117 (GRCm39) missense probably damaging 1.00
R7782:Zfp536 UTSW 7 37,268,126 (GRCm39) missense probably damaging 1.00
R7827:Zfp536 UTSW 7 37,269,113 (GRCm39) missense probably damaging 1.00
R8013:Zfp536 UTSW 7 37,269,035 (GRCm39) missense probably damaging 1.00
R8209:Zfp536 UTSW 7 37,268,080 (GRCm39) missense probably benign 0.00
R8504:Zfp536 UTSW 7 37,179,492 (GRCm39) missense probably benign
R8779:Zfp536 UTSW 7 37,267,692 (GRCm39) nonsense probably null
R8931:Zfp536 UTSW 7 37,268,721 (GRCm39) missense probably benign 0.41
R8985:Zfp536 UTSW 7 37,268,228 (GRCm39) missense probably damaging 1.00
X0066:Zfp536 UTSW 7 37,269,206 (GRCm39) missense possibly damaging 0.93
Z1176:Zfp536 UTSW 7 37,193,237 (GRCm39) missense possibly damaging 0.85
Z1186:Zfp536 UTSW 7 37,179,908 (GRCm39) missense probably benign
Z1186:Zfp536 UTSW 7 37,179,498 (GRCm39) missense probably benign
Z1186:Zfp536 UTSW 7 37,178,985 (GRCm39) missense probably benign 0.07
Z1191:Zfp536 UTSW 7 37,179,908 (GRCm39) missense probably benign
Z1191:Zfp536 UTSW 7 37,179,498 (GRCm39) missense probably benign
Z1191:Zfp536 UTSW 7 37,178,985 (GRCm39) missense probably benign 0.07
Predicted Primers PCR Primer
(F):5'- TAAAGGTGAGACCAGTCCCTG -3'
(R):5'- CCAGCCAAAGAGACTCTAGG -3'

Sequencing Primer
(F):5'- TGTCGCCGCCCTCACTG -3'
(R):5'- GGGACCCGAAGAGTGGTC -3'
Posted On 2017-08-16