Incidental Mutation 'R6131:Zfp536'
ID 487128
Institutional Source Beutler Lab
Gene Symbol Zfp536
Ensembl Gene ENSMUSG00000043456
Gene Name zinc finger protein 536
Synonyms 9630010P11Rik
MMRRC Submission 044278-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R6131 (G1)
Quality Score 225.009
Status Validated
Chromosome 7
Chromosomal Location 37017449-37473066 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 37269137 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Valine at position 93 (D93V)
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: D93V

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000058468
Gene: ENSMUSG00000043456
AA Change: D93V

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: D93V

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000134778
Gene: ENSMUSG00000043456
AA Change: D93V

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: D93V

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000135681
Gene: ENSMUSG00000043456
AA Change: D93V

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: D93V

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000135068
Gene: ENSMUSG00000043456
AA Change: D93V

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: ENSMUST00000176534
AA Change: D93V

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
Predicted Effect probably damaging
Transcript: ENSMUST00000176680
AA Change: D93V

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000135218
Gene: ENSMUSG00000043456
AA Change: D93V

DomainStartEndE-ValueType
ZnF_C2H2 130 152 5.14e-3 SMART
Meta Mutation Damage Score 0.3059 question?
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.7%
  • 10x: 98.5%
  • 20x: 95.8%
Validation Efficiency 96% (50/52)
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: 51 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
5031439G07Rik A T 15: 84,844,793 (GRCm39) W75R probably damaging Het
Aadacl2fm3 A G 3: 59,776,324 (GRCm39) K165R possibly damaging Het
Abca15 T C 7: 119,939,428 (GRCm39) V274A probably benign Het
Afg3l2 G T 18: 67,554,329 (GRCm39) L458M probably damaging Het
Ap1m2 T C 9: 21,207,797 (GRCm39) Y396C probably damaging Het
Apob T C 12: 8,065,874 (GRCm39) S405P probably benign Het
Arhgap26 G T 18: 39,419,638 (GRCm39) G533* probably null Het
Atxn2l T C 7: 126,102,337 (GRCm39) probably benign Het
Ccdc88c A T 12: 100,907,387 (GRCm39) L995H probably damaging Het
Ccn3 A G 15: 54,612,756 (GRCm39) D255G probably benign Het
Cep192 A G 18: 67,971,068 (GRCm39) H1023R possibly damaging Het
Cog5 T A 12: 31,936,220 (GRCm39) M589K possibly damaging Het
Col25a1 C A 3: 130,329,114 (GRCm39) P337Q probably damaging Het
Cyfip1 T G 7: 55,523,228 (GRCm39) V51G possibly damaging Het
Dnah7b A T 1: 46,292,626 (GRCm39) I3004F probably damaging Het
Dsg3 A T 18: 20,671,569 (GRCm39) D758V probably damaging Het
Dsg3 A G 18: 20,653,534 (GRCm39) probably null Het
Eml5 A T 12: 98,827,510 (GRCm39) H573Q probably damaging Het
Erp27 T C 6: 136,885,201 (GRCm39) D199G probably damaging Het
Flnb A G 14: 7,894,635 (GRCm38) Y811C possibly damaging Het
G6pd2 A T 5: 61,966,593 (GRCm39) S123C probably benign Het
Gm1818 T A 12: 48,602,319 (GRCm39) noncoding transcript Het
Gm29340 C T 2: 116,798,519 (GRCm39) noncoding transcript Het
H2bc7 C A 13: 23,758,310 (GRCm39) probably benign Het
Hcn2 G T 10: 79,569,742 (GRCm39) G581W probably damaging Het
Kidins220 T C 12: 25,042,313 (GRCm39) probably null Het
Lonp1 T C 17: 56,921,457 (GRCm39) E926G probably benign Het
Lrp1 T C 10: 127,396,026 (GRCm39) I2415V probably benign Het
Mmel1 C T 4: 154,979,475 (GRCm39) H728Y probably damaging Het
Mmp10 A G 9: 7,503,633 (GRCm39) probably null Het
Myo16 T A 8: 10,619,877 (GRCm39) I1476N probably benign Het
Nectin3 G T 16: 46,215,515 (GRCm39) H76N probably damaging Het
Nphs2 G A 1: 156,153,521 (GRCm39) R204Q probably damaging Het
Or5ac15 T C 16: 58,940,256 (GRCm39) Y59C probably damaging Het
Or8b36 ATTGCTGTTT ATTGCTGTTTGCTGTTT 9: 37,937,836 (GRCm39) probably null Het
Or8b53 T A 9: 38,667,362 (GRCm39) I126N probably damaging Het
Otx1 A T 11: 21,949,406 (GRCm39) L24H probably damaging Het
Pate10 T A 9: 35,652,840 (GRCm39) C27* probably null Het
Psme2b T C 11: 48,836,752 (GRCm39) D65G probably damaging Het
Rlf T C 4: 121,012,172 (GRCm39) K214E probably damaging Het
Rnasel A T 1: 153,630,206 (GRCm39) T241S probably damaging Het
Samd9l C G 6: 3,377,252 (GRCm39) G3A probably benign Het
Smg7 A G 1: 152,720,962 (GRCm39) probably null Het
Spag16 A G 1: 70,764,242 (GRCm39) probably null Het
Spata31d1c T A 13: 65,183,485 (GRCm39) D342E probably benign Het
Stab2 A G 10: 86,719,642 (GRCm39) probably null Het
Taar7b A T 10: 23,876,615 (GRCm39) Y260F probably benign Het
Vcpip1 T C 1: 9,817,517 (GRCm39) I289V probably damaging Het
Vmn2r130 C T 17: 23,282,629 (GRCm39) A103V probably benign Het
Vmn2r39 A G 7: 9,017,963 (GRCm39) V791A probably damaging Het
Vmn2r66 T A 7: 84,644,224 (GRCm39) I729F 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
R6114:Zfp536 UTSW 7 37,179,161 (GRCm39) missense probably damaging 0.99
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'- GCAGTAGGGGCACTTGAATG -3'
(R):5'- ATGCCATGAGCCAGAAGTTG -3'

Sequencing Primer
(F):5'- GGGCACTTGAATGGCTTCTCAC -3'
(R):5'- TGAGCCAGAAGTTGCACCAGATC -3'
Posted On 2017-10-10