Incidental Mutation 'R8013:Zfp536'
ID 616996
Institutional Source Beutler Lab
Gene Symbol Zfp536
Ensembl Gene ENSMUSG00000043456
Gene Name zinc finger protein 536
Synonyms 9630010P11Rik
MMRRC Submission 067453-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R8013 (G1)
Quality Score 225.009
Status Not validated
Chromosome 7
Chromosomal Location 37017449-37473066 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 37269035 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Asparagine to Serine at position 127 (N127S)
Ref Sequence ENSEMBL: ENSMUSP00000058468 (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: N127S

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000058468
Gene: ENSMUSG00000043456
AA Change: N127S

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: N127S

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000134778
Gene: ENSMUSG00000043456
AA Change: N127S

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: N127S

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000135681
Gene: ENSMUSG00000043456
AA Change: N127S

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: N127S

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000135068
Gene: ENSMUSG00000043456
AA Change: N127S

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: N127S

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000135218
Gene: ENSMUSG00000043456
AA Change: N127S

DomainStartEndE-ValueType
ZnF_C2H2 130 152 5.14e-3 SMART
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.8%
  • 20x: 99.4%
Validation Efficiency
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: 70 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
6030458C11Rik C A 15: 12,824,615 (GRCm39) D7Y probably benign Het
Ahnak A G 19: 8,986,699 (GRCm39) D2661G unknown Het
Akap13 G A 7: 75,380,213 (GRCm39) R462H probably damaging Het
Apob T A 12: 8,060,798 (GRCm39) N3093K possibly damaging Het
Baz2a C T 10: 127,961,157 (GRCm39) R1627C probably benign Het
Baz2a T G 10: 127,961,161 (GRCm39) V1628G possibly damaging Het
Bbs7 A T 3: 36,648,536 (GRCm39) I404K probably damaging Het
Cacna1g T C 11: 94,347,796 (GRCm39) Y764C probably damaging Het
Casr G A 16: 36,330,006 (GRCm39) L443F probably benign Het
Cfap43 T A 19: 47,761,548 (GRCm39) I849F probably damaging Het
Cntn3 A T 6: 102,176,278 (GRCm39) H812Q probably benign Het
Cog1 A G 11: 113,546,990 (GRCm39) D528G probably damaging Het
Depdc5 C T 5: 33,131,186 (GRCm39) T1229M probably benign Het
Dis3 T A 14: 99,314,835 (GRCm39) R954W possibly damaging Het
Disp2 T A 2: 118,620,163 (GRCm39) Y298* probably null Het
Dnai3 T C 3: 145,787,040 (GRCm39) T332A probably damaging Het
Dock2 A C 11: 34,596,677 (GRCm39) I393S probably damaging Het
Dtd1 A G 2: 144,459,252 (GRCm39) D92G probably damaging Het
Eef2 T A 10: 81,014,030 (GRCm39) V121D probably damaging Het
Eml1 T A 12: 108,487,938 (GRCm39) I550N probably benign Het
Entpd7 A G 19: 43,716,494 (GRCm39) D496G probably benign Het
Ets2 T A 16: 95,517,144 (GRCm39) L292Q probably damaging Het
Ext1 T C 15: 52,939,283 (GRCm39) I589V possibly damaging Het
Fam20a T A 11: 109,576,332 (GRCm39) E142D possibly damaging Het
Farp1 T A 14: 121,479,813 (GRCm39) I368N probably damaging Het
Fars2 C T 13: 36,389,068 (GRCm39) Q186* probably null Het
Fbn2 T C 18: 58,237,153 (GRCm39) T617A possibly damaging Het
Fbxo38 T C 18: 62,663,882 (GRCm39) E203G possibly damaging Het
Fcgbpl1 G A 7: 27,836,966 (GRCm39) R295H probably benign Het
Fhdc1 A T 3: 84,381,946 (GRCm39) M1K probably null Het
Gatad1 T C 5: 3,693,540 (GRCm39) R210G probably benign Het
Gm28363 A G 1: 117,654,534 (GRCm39) R58G probably benign Het
Gm8356 A T 14: 17,692,450 (GRCm39) N58K probably damaging Het
Grsf1 A G 5: 88,823,615 (GRCm39) probably null Het
Hephl1 T A 9: 14,965,905 (GRCm39) D1016V possibly damaging Het
Hrob A G 11: 102,148,725 (GRCm39) N379D probably benign Het
Kcnma1 T A 14: 23,423,211 (GRCm39) I831F probably benign Het
Krt78 T C 15: 101,856,977 (GRCm39) R377G probably damaging Het
Lama2 T C 10: 27,220,494 (GRCm39) H457R probably benign Het
Lmnb1 T A 18: 56,841,431 (GRCm39) Y83N probably damaging Het
Loxl4 A G 19: 42,596,115 (GRCm39) C113R probably damaging Het
Lrba A T 3: 86,325,278 (GRCm39) D1912V probably damaging Het
Macf1 T A 4: 123,420,619 (GRCm39) T212S probably benign Het
Map3k4 A T 17: 12,489,918 (GRCm39) C504* probably null Het
Map4k4 T C 1: 40,001,372 (GRCm39) I53T unknown Het
Mtcl2 A G 2: 156,872,706 (GRCm39) probably null Het
Myo5b C T 18: 74,893,970 (GRCm39) Q1700* probably null Het
Npas2 T C 1: 39,377,146 (GRCm39) F503L probably benign Het
Nrg1 A T 8: 32,439,951 (GRCm39) S149T probably benign Het
Or13c7 T A 4: 43,854,958 (GRCm39) F216L probably benign Het
Or2ag15 C T 7: 106,340,824 (GRCm39) V106I probably benign Het
Or4a71 A G 2: 89,358,280 (GRCm39) V158A probably benign Het
Or9r7 T A 10: 129,962,647 (GRCm39) K93M probably damaging Het
Pdia6 T C 12: 17,323,966 (GRCm39) L66S probably damaging Het
Prss35 T C 9: 86,637,478 (GRCm39) S83P probably damaging Het
Psme4 G A 11: 30,754,320 (GRCm39) M192I probably benign Het
Ptprs A C 17: 56,742,994 (GRCm39) S383A probably damaging Het
Resf1 T G 6: 149,230,368 (GRCm39) V1138G probably damaging Het
Sar1b C T 11: 51,670,621 (GRCm39) P55L possibly damaging Het
Sgsh A G 11: 119,243,521 (GRCm39) V67A probably damaging Het
Slc16a4 A G 3: 107,218,794 (GRCm39) Y465C probably damaging Het
Stard9 T C 2: 120,518,582 (GRCm39) I502T probably damaging Het
Sugp2 T A 8: 70,704,292 (GRCm39) Y610N probably damaging Het
Tbc1d24 G A 17: 24,401,795 (GRCm39) P385S possibly damaging Het
Tm4sf1 T C 3: 57,200,319 (GRCm39) I99V probably benign Het
Tpr G T 1: 150,274,359 (GRCm39) V163L probably benign Het
Usp31 T C 7: 121,248,480 (GRCm39) S988G probably damaging Het
Zbtb26 T A 2: 37,327,013 (GRCm39) probably null Het
Zfp750 T A 11: 121,403,843 (GRCm39) D344V possibly damaging Het
Zmym5 T A 14: 57,031,883 (GRCm39) K408N possibly 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
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
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'- AGACGGTTCTCCTCACGTAC -3'
(R):5'- AGCCATGCCTTTCCTGAGTTG -3'

Sequencing Primer
(F):5'- CTTCCCCAAGTTGCCCAG -3'
(R):5'- CTTGAGGAGAAGGCCCACGTG -3'
Posted On 2020-01-23