Incidental Mutation 'IGL01448:Zfp512b'
ID 84514
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Zfp512b
Ensembl Gene ENSMUSG00000000823
Gene Name zinc finger protein 512B
Synonyms LOC269401, Znf512b
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # IGL01448
Quality Score
Status
Chromosome 2
Chromosomal Location 181223925-181234572 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 181229578 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Alanine at position 625 (T625A)
Ref Sequence ENSEMBL: ENSMUSP00000115601 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000108789] [ENSMUST00000128553] [ENSMUST00000132714] [ENSMUST00000140103] [ENSMUST00000153998]
AlphaFold Q6PHP4
Predicted Effect probably benign
Transcript: ENSMUST00000108789
AA Change: T615A

PolyPhen 2 Score 0.060 (Sensitivity: 0.94; Specificity: 0.84)
SMART Domains Protein: ENSMUSP00000104417
Gene: ENSMUSG00000000823
AA Change: T615A

DomainStartEndE-ValueType
low complexity region 15 26 N/A INTRINSIC
ZnF_C2H2 106 128 5.83e1 SMART
ZnF_C2H2 141 164 3.89e-3 SMART
internal_repeat_1 168 224 4.38e-14 PROSPERO
internal_repeat_1 246 302 4.38e-14 PROSPERO
ZnF_C2H2 487 511 5.68e1 SMART
ZnF_C2H2 517 540 2.91e-2 SMART
low complexity region 547 560 N/A INTRINSIC
ZnF_C2H2 571 593 1.59e1 SMART
ZnF_C2H2 607 630 4.4e-2 SMART
Blast:ZnF_C2H2 727 756 8e-11 BLAST
ZnF_C2H2 761 784 1.45e-2 SMART
low complexity region 808 832 N/A INTRINSIC
low complexity region 838 856 N/A INTRINSIC
low complexity region 858 866 N/A INTRINSIC
Predicted Effect possibly damaging
Transcript: ENSMUST00000128553
AA Change: T625A

PolyPhen 2 Score 0.615 (Sensitivity: 0.87; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000115601
Gene: ENSMUSG00000000823
AA Change: T625A

DomainStartEndE-ValueType
ZnF_C2H2 85 107 5.83e1 SMART
low complexity region 111 124 N/A INTRINSIC
low complexity region 130 140 N/A INTRINSIC
ZnF_C2H2 151 174 3.89e-3 SMART
internal_repeat_1 178 234 1.6e-14 PROSPERO
internal_repeat_1 256 312 1.6e-14 PROSPERO
ZnF_C2H2 497 521 5.68e1 SMART
ZnF_C2H2 527 550 2.91e-2 SMART
low complexity region 557 570 N/A INTRINSIC
ZnF_C2H2 581 603 1.59e1 SMART
ZnF_C2H2 617 640 4.4e-2 SMART
internal_repeat_2 723 761 4.94e-7 PROSPERO
ZnF_C2H2 771 794 1.45e-2 SMART
low complexity region 818 842 N/A INTRINSIC
low complexity region 848 866 N/A INTRINSIC
low complexity region 868 876 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000131866
Predicted Effect probably benign
Transcript: ENSMUST00000132538
SMART Domains Protein: ENSMUSP00000119677
Gene: ENSMUSG00000000823

DomainStartEndE-ValueType
ZnF_C2H2 46 70 5.68e1 SMART
ZnF_C2H2 76 99 2.91e-2 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000132714
SMART Domains Protein: ENSMUSP00000117711
Gene: ENSMUSG00000002455

DomainStartEndE-ValueType
Pfam:PRP1_N 1 54 6e-11 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000133598
SMART Domains Protein: ENSMUSP00000114378
Gene: ENSMUSG00000000823

DomainStartEndE-ValueType
low complexity region 15 26 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000135561
SMART Domains Protein: ENSMUSP00000121721
Gene: ENSMUSG00000000823

DomainStartEndE-ValueType
ZnF_C2H2 12 35 1.45e-2 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000136759
Predicted Effect probably benign
Transcript: ENSMUST00000140103
SMART Domains Protein: ENSMUSP00000123579
Gene: ENSMUSG00000000823

DomainStartEndE-ValueType
Blast:ZnF_C2H2 2 24 8e-7 BLAST
ZnF_C2H2 29 52 1.45e-2 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000155947
Predicted Effect noncoding transcript
Transcript: ENSMUST00000152365
Predicted Effect noncoding transcript
Transcript: ENSMUST00000183624
Predicted Effect noncoding transcript
Transcript: ENSMUST00000150552
Predicted Effect probably benign
Transcript: ENSMUST00000153998
SMART Domains Protein: ENSMUSP00000123096
Gene: ENSMUSG00000000823

DomainStartEndE-ValueType
low complexity region 15 26 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000144856
SMART Domains Protein: ENSMUSP00000114982
Gene: ENSMUSG00000089917

DomainStartEndE-ValueType
low complexity region 1 12 N/A INTRINSIC
Pfam:CPT 83 211 2.7e-10 PFAM
Pfam:PRK 85 253 7.7e-56 PFAM
Pfam:AAA_17 86 240 2.5e-8 PFAM
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 54 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700020A23Rik A T 2: 130,247,767 (GRCm39) E75D possibly damaging Het
1700084J12Rik A G 15: 33,405,779 (GRCm39) probably benign Het
2610303G11Rik T A 9: 98,068,762 (GRCm39) noncoding transcript Het
4931414P19Rik T C 14: 54,823,417 (GRCm39) D320G possibly damaging Het
Adamts6 G A 13: 104,433,672 (GRCm39) E34K probably damaging Het
Alms1 T A 6: 85,654,881 (GRCm39) N3142K possibly damaging Het
Anapc7 G A 5: 122,566,276 (GRCm39) A62T probably damaging Het
Atp8b3 G A 10: 80,356,256 (GRCm39) P1152L probably benign Het
Cc2d2a C T 5: 43,841,527 (GRCm39) T181I possibly damaging Het
Celsr2 A G 3: 108,300,555 (GRCm39) L2835P probably damaging Het
Ctns A T 11: 73,079,548 (GRCm39) V99D possibly damaging Het
Dchs1 T C 7: 105,421,134 (GRCm39) R429G probably damaging Het
Ddx11 T C 17: 66,441,132 (GRCm39) V218A probably damaging Het
Eftud2 G A 11: 102,756,389 (GRCm39) probably benign Het
Erich1 G T 8: 14,128,853 (GRCm39) T29N possibly damaging Het
Exosc8 T C 3: 54,636,686 (GRCm39) E215G probably damaging Het
Fam184a G T 10: 53,575,045 (GRCm39) A188E probably benign Het
Fign A G 2: 63,810,032 (GRCm39) S413P probably damaging Het
Fkbp6 A G 5: 135,378,550 (GRCm39) S33P probably damaging Het
Glb1 A G 9: 114,279,745 (GRCm39) probably benign Het
H2-Q1 T C 17: 35,542,437 (GRCm39) probably benign Het
Helz2 T C 2: 180,875,770 (GRCm39) T1575A probably damaging Het
Il18r1 A G 1: 40,513,890 (GRCm39) E32G probably damaging Het
Ints5 C T 19: 8,872,851 (GRCm39) P270L possibly damaging Het
Itga7 G T 10: 128,785,337 (GRCm39) E847* probably null Het
Kcns3 A C 12: 11,141,644 (GRCm39) S352A possibly damaging Het
Kiz A G 2: 146,705,721 (GRCm39) K94E probably benign Het
Lin7b C T 7: 45,018,624 (GRCm39) V12M probably damaging Het
Myo18b A T 5: 112,959,570 (GRCm39) I1409N probably damaging Het
Myo5b A G 18: 74,777,161 (GRCm39) H407R probably damaging Het
Nelfa T C 5: 34,056,146 (GRCm39) T506A probably damaging Het
Or10p21 A G 10: 128,847,729 (GRCm39) T192A probably damaging Het
Or4d5 A T 9: 40,012,378 (GRCm39) M136K probably damaging Het
Or5p72 T A 7: 108,022,235 (GRCm39) Y152* probably null Het
Or6c69 A G 10: 129,748,114 (GRCm39) I11T possibly damaging Het
Pclo A C 5: 14,726,408 (GRCm39) probably benign Het
Pes1 G A 11: 3,927,979 (GRCm39) E544K possibly damaging Het
Rabgap1l A G 1: 160,568,315 (GRCm39) probably benign Het
Rapgef2 T C 3: 78,976,244 (GRCm39) M1521V probably benign Het
Rapgef2 C T 3: 79,011,269 (GRCm39) probably null Het
Reln A G 5: 22,245,403 (GRCm39) V735A probably benign Het
Slc2a4 A G 11: 69,835,902 (GRCm39) S316P possibly damaging Het
Smarce1 C T 11: 99,101,013 (GRCm39) G373E possibly damaging Het
Spata31d1a T A 13: 59,849,373 (GRCm39) R918S probably benign Het
St3gal4 T C 9: 34,963,627 (GRCm39) K227R probably benign Het
Stra6l T A 4: 45,864,864 (GRCm39) probably null Het
Stxbp5l T C 16: 37,036,341 (GRCm39) I425V probably damaging Het
Tcaf2 T C 6: 42,607,262 (GRCm39) T231A probably benign Het
Tiparp G T 3: 65,460,030 (GRCm39) G442* probably null Het
Tnks A G 8: 35,307,136 (GRCm39) Y1138H probably damaging Het
Vezt T A 10: 93,832,719 (GRCm39) I231F probably damaging Het
Vmn2r4 A T 3: 64,313,816 (GRCm39) N388K probably damaging Het
Zbed3 A G 13: 95,473,142 (GRCm39) K189E possibly damaging Het
Zfp827 A T 8: 79,787,362 (GRCm39) Q176L possibly damaging Het
Other mutations in Zfp512b
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00492:Zfp512b APN 2 181,228,862 (GRCm39) missense probably damaging 0.98
IGL00667:Zfp512b APN 2 181,231,526 (GRCm39) missense probably damaging 0.97
IGL00763:Zfp512b APN 2 181,231,944 (GRCm39) missense probably damaging 1.00
IGL01788:Zfp512b APN 2 181,230,556 (GRCm39) missense possibly damaging 0.86
IGL02048:Zfp512b APN 2 181,231,715 (GRCm39) missense possibly damaging 0.77
IGL02752:Zfp512b APN 2 181,229,864 (GRCm39) missense possibly damaging 0.46
IGL03238:Zfp512b APN 2 181,231,553 (GRCm39) missense probably damaging 1.00
R0421:Zfp512b UTSW 2 181,230,051 (GRCm39) nonsense probably null
R0507:Zfp512b UTSW 2 181,226,757 (GRCm39) unclassified probably benign
R0713:Zfp512b UTSW 2 181,230,093 (GRCm39) missense possibly damaging 0.79
R1074:Zfp512b UTSW 2 181,230,972 (GRCm39) missense probably damaging 0.96
R1513:Zfp512b UTSW 2 181,230,982 (GRCm39) missense probably benign 0.00
R1560:Zfp512b UTSW 2 181,230,472 (GRCm39) missense probably benign 0.00
R1595:Zfp512b UTSW 2 181,230,229 (GRCm39) missense probably damaging 1.00
R1673:Zfp512b UTSW 2 181,230,286 (GRCm39) missense possibly damaging 0.61
R1845:Zfp512b UTSW 2 181,227,528 (GRCm39) missense probably damaging 1.00
R1888:Zfp512b UTSW 2 181,230,235 (GRCm39) missense probably damaging 0.99
R1888:Zfp512b UTSW 2 181,230,235 (GRCm39) missense probably damaging 0.99
R1943:Zfp512b UTSW 2 181,230,208 (GRCm39) missense probably damaging 1.00
R1975:Zfp512b UTSW 2 181,228,878 (GRCm39) nonsense probably null
R2520:Zfp512b UTSW 2 181,231,295 (GRCm39) missense probably damaging 1.00
R3876:Zfp512b UTSW 2 181,230,556 (GRCm39) frame shift probably null
R3877:Zfp512b UTSW 2 181,230,556 (GRCm39) frame shift probably null
R4171:Zfp512b UTSW 2 181,232,391 (GRCm39) splice site probably null
R4607:Zfp512b UTSW 2 181,230,567 (GRCm39) missense probably damaging 1.00
R4732:Zfp512b UTSW 2 181,230,532 (GRCm39) missense probably benign
R4733:Zfp512b UTSW 2 181,230,532 (GRCm39) missense probably benign
R4766:Zfp512b UTSW 2 181,226,888 (GRCm39) unclassified probably benign
R4888:Zfp512b UTSW 2 181,228,856 (GRCm39) missense probably damaging 1.00
R4965:Zfp512b UTSW 2 181,228,131 (GRCm39) missense probably damaging 1.00
R5632:Zfp512b UTSW 2 181,227,461 (GRCm39) missense probably benign 0.27
R6897:Zfp512b UTSW 2 181,232,273 (GRCm39) missense probably damaging 1.00
R6970:Zfp512b UTSW 2 181,228,141 (GRCm39) missense possibly damaging 0.92
R7432:Zfp512b UTSW 2 181,231,649 (GRCm39) missense probably benign
R7560:Zfp512b UTSW 2 181,228,875 (GRCm39) missense probably damaging 1.00
R7935:Zfp512b UTSW 2 181,231,689 (GRCm39) missense probably damaging 1.00
R8045:Zfp512b UTSW 2 181,226,617 (GRCm39) makesense probably null
R8321:Zfp512b UTSW 2 181,228,931 (GRCm39) missense possibly damaging 0.86
R8821:Zfp512b UTSW 2 181,228,525 (GRCm39) missense probably benign 0.01
R8913:Zfp512b UTSW 2 181,227,282 (GRCm39) missense
R9010:Zfp512b UTSW 2 181,230,011 (GRCm39) missense possibly damaging 0.59
Posted On 2013-11-11