Incidental Mutation 'R4039:Zfp536'
ID 313845
Institutional Source Beutler Lab
Gene Symbol Zfp536
Ensembl Gene ENSMUSG00000043456
Gene Name zinc finger protein 536
Synonyms 9630010P11Rik
MMRRC Submission 041614-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R4039 (G1)
Quality Score 225
Status Validated
Chromosome 7
Chromosomal Location 37017449-37473066 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 37268975 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Glutamine at position 147 (L147Q)
Ref Sequence ENSEMBL: ENSMUSP00000135218 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000056338] [ENSMUST00000175941] [ENSMUST00000176114] [ENSMUST00000176205] [ENSMUST00000176534] [ENSMUST00000176680]
AlphaFold Q8K083
Predicted Effect probably damaging
Transcript: ENSMUST00000056338
AA Change: L147Q

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000058468
Gene: ENSMUSG00000043456
AA Change: L147Q

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 probably damaging
Transcript: ENSMUST00000175941
AA Change: L147Q

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000134778
Gene: ENSMUSG00000043456
AA Change: L147Q

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: ENSMUST00000176114
AA Change: L147Q

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000135681
Gene: ENSMUSG00000043456
AA Change: L147Q

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: ENSMUST00000176205
AA Change: L147Q

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000135068
Gene: ENSMUSG00000043456
AA Change: L147Q

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 benign
Transcript: ENSMUST00000176534
Predicted Effect probably damaging
Transcript: ENSMUST00000176680
AA Change: L147Q

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000135218
Gene: ENSMUSG00000043456
AA Change: L147Q

DomainStartEndE-ValueType
ZnF_C2H2 130 152 5.14e-3 SMART
Meta Mutation Damage Score 0.2560 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.5%
  • 10x: 97.0%
  • 20x: 94.0%
Validation Efficiency 98% (48/49)
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: 44 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4933412E24Rik A T 15: 59,888,215 (GRCm39) L75Q possibly damaging Het
Cep290 T C 10: 100,348,263 (GRCm39) probably null Het
Col11a2 A G 17: 34,264,748 (GRCm39) T268A probably benign Het
Crnkl1 T A 2: 145,774,247 (GRCm39) D72V possibly damaging Het
Csn2 C T 5: 87,845,935 (GRCm39) M1I probably null Het
Dhcr24 T C 4: 106,431,075 (GRCm39) F255L probably benign Het
Epn2 A G 11: 61,437,348 (GRCm39) Y75H probably damaging Het
Galnt3 A T 2: 65,915,671 (GRCm39) H563Q probably damaging Het
Galnt9 T C 5: 110,762,074 (GRCm39) V37A probably damaging Het
Glb1l3 A C 9: 26,740,343 (GRCm39) M329R probably damaging Het
Gorab A T 1: 163,224,635 (GRCm39) D55E possibly damaging Het
Herc2 G A 7: 55,806,159 (GRCm39) R2318Q probably damaging Het
Hspa2 T C 12: 76,452,542 (GRCm39) V412A probably damaging Het
Hspb8 A G 5: 116,547,403 (GRCm39) V193A probably benign Het
Ly75 A G 2: 60,183,339 (GRCm39) L481P probably damaging Het
Lyzl1 T C 18: 4,169,140 (GRCm39) L48P probably damaging Het
Mettl27 C T 5: 134,969,463 (GRCm39) Q212* probably null Het
Mmachc T A 4: 116,563,215 (GRCm39) T47S probably damaging Het
Ncam2 C T 16: 81,287,211 (GRCm39) S375L probably benign Het
Ogfrl1 T C 1: 23,418,045 (GRCm39) probably benign Het
Parp9 T C 16: 35,780,417 (GRCm39) L461P probably damaging Het
Pcsk7 A G 9: 45,839,305 (GRCm39) probably null Het
Plekhh1 C A 12: 79,101,957 (GRCm39) H342Q probably benign Het
Prdm13 T G 4: 21,685,774 (GRCm39) probably benign Het
Prkaa2 T C 4: 104,908,444 (GRCm39) N144D probably damaging Het
Ptpn12 A T 5: 21,207,508 (GRCm39) Y283* probably null Het
Rab12 T C 17: 66,807,396 (GRCm39) Y111C possibly damaging Het
Ralgapa1 T C 12: 55,842,486 (GRCm39) N61S probably damaging Het
Rims1 T C 1: 22,514,793 (GRCm39) S537G probably damaging Het
Sash1 G T 10: 8,605,391 (GRCm39) P1000T probably damaging Het
Skint5 G T 4: 113,743,011 (GRCm39) T352K unknown Het
Slc12a5 A G 2: 164,834,250 (GRCm39) E757G probably benign Het
Sycp2 C A 2: 178,022,720 (GRCm39) M470I possibly damaging Het
Szt2 T C 4: 118,222,149 (GRCm39) probably benign Het
Tbc1d1 A G 5: 64,473,771 (GRCm39) T765A probably damaging Het
Tgfbr2 T C 9: 116,004,105 (GRCm39) M1V probably null Het
Tnfrsf11a A G 1: 105,755,464 (GRCm39) probably null Het
Trim43b A G 9: 88,973,400 (GRCm39) L111P probably damaging Het
Ttbk2 A T 2: 120,576,276 (GRCm39) S900R probably benign Het
Unc79 G A 12: 103,041,208 (GRCm39) C747Y possibly damaging Het
Vmn1r218 T C 13: 23,320,971 (GRCm39) V26A possibly damaging Het
Vmn2r115 A T 17: 23,564,077 (GRCm39) Y83F probably benign Het
Zfp931 T A 2: 177,709,777 (GRCm39) Q203L possibly damaging Het
Zswim2 G A 2: 83,746,338 (GRCm39) H367Y 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
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
R6114:Zfp536 UTSW 7 37,179,161 (GRCm39) missense probably damaging 0.99
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'- TTGAGATCAGACCTTGGCTG -3'
(R):5'- TGTAGACAACAGCCTCAATGG -3'

Sequencing Primer
(F):5'- ATCAGACCTTGGCTGCAGCAG -3'
(R):5'- CCTCAATGGGCGTGTGGATC -3'
Posted On 2015-04-30