Incidental Mutation 'IGL03238:Zfp512b'
ID 414167
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 # IGL03238
Quality Score
Status
Chromosome 2
Chromosomal Location 181223925-181234572 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 181231553 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 199 (V199A)
Ref Sequence ENSEMBL: ENSMUSP00000104417 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000108789] [ENSMUST00000128553] [ENSMUST00000132714] [ENSMUST00000140103] [ENSMUST00000153998]
AlphaFold Q6PHP4
Predicted Effect probably damaging
Transcript: ENSMUST00000108789
AA Change: V199A

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000104417
Gene: ENSMUSG00000000823
AA Change: V199A

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 probably damaging
Transcript: ENSMUST00000128553
AA Change: V209A

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000115601
Gene: ENSMUSG00000000823
AA Change: V209A

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 noncoding transcript
Transcript: ENSMUST00000136759
Predicted Effect noncoding transcript
Transcript: ENSMUST00000150552
Predicted Effect noncoding transcript
Transcript: ENSMUST00000183624
Predicted Effect noncoding transcript
Transcript: ENSMUST00000152365
Predicted Effect noncoding transcript
Transcript: ENSMUST00000155947
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 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: ENSMUST00000135561
SMART Domains Protein: ENSMUSP00000121721
Gene: ENSMUSG00000000823

DomainStartEndE-ValueType
ZnF_C2H2 12 35 1.45e-2 SMART
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: 40 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aadacl2 A C 3: 59,932,339 (GRCm39) T285P probably benign Het
Abcf1 T C 17: 36,274,215 (GRCm39) K186E probably damaging Het
Adam3 T C 8: 25,177,981 (GRCm39) probably null Het
Art1 T C 7: 101,759,956 (GRCm39) V85A possibly damaging Het
Ccdc110 A G 8: 46,394,859 (GRCm39) H250R probably benign Het
Cyp3a13 T A 5: 137,897,151 (GRCm39) I388F probably damaging Het
Dnah11 C T 12: 118,073,633 (GRCm39) V1425M probably damaging Het
Donson G A 16: 91,478,134 (GRCm39) Q22* probably null Het
Eif2b2 A G 12: 85,270,173 (GRCm39) T238A probably benign Het
Emc2 T A 15: 43,371,249 (GRCm39) probably null Het
Fkbp4 A T 6: 128,411,720 (GRCm39) V123E probably damaging Het
Frem2 A T 3: 53,563,682 (GRCm39) M275K possibly damaging Het
Gcat T A 15: 78,920,210 (GRCm39) probably benign Het
Gemin2 G A 12: 59,063,748 (GRCm39) probably benign Het
Ilf3 T A 9: 21,303,646 (GRCm39) V169E probably damaging Het
Klra17 T C 6: 129,845,773 (GRCm39) H147R probably benign Het
Lama5 A G 2: 179,830,367 (GRCm39) I1880T probably benign Het
Lzts1 T C 8: 69,591,446 (GRCm39) D234G probably damaging Het
Map3k4 G A 17: 12,490,045 (GRCm39) P462L probably benign Het
Marchf6 C A 15: 31,462,087 (GRCm39) probably benign Het
Mcm6 A T 1: 128,283,257 (GRCm39) F83I probably benign Het
Mtpn A G 6: 35,499,708 (GRCm39) L32P probably damaging Het
Mybpc3 A T 2: 90,962,004 (GRCm39) I841F probably damaging Het
Ndst2 G T 14: 20,778,572 (GRCm39) H399N probably damaging Het
Npat G T 9: 53,481,726 (GRCm39) V1145F probably damaging Het
Or51b6 G A 7: 103,555,717 (GRCm39) A21T probably benign Het
P2ry1 T A 3: 60,911,916 (GRCm39) S352T probably damaging Het
Plaa T C 4: 94,472,133 (GRCm39) T326A probably benign Het
Ppdpf T C 2: 180,829,673 (GRCm39) S43P probably benign Het
Prb1b T A 6: 132,289,308 (GRCm39) Q172L unknown Het
Setd1a C T 7: 127,384,718 (GRCm39) T523I possibly damaging Het
Sgcz C T 8: 38,030,294 (GRCm39) probably null Het
Slc12a2 T C 18: 58,047,306 (GRCm39) Y740H possibly damaging Het
Stab2 A G 10: 86,690,985 (GRCm39) C745R probably damaging Het
Tmem101 A T 11: 102,046,611 (GRCm39) L86Q probably damaging Het
Tmtc3 A C 10: 100,313,702 (GRCm39) F57V probably damaging Het
Vps50 A G 6: 3,594,771 (GRCm39) K778R possibly damaging Het
Washc5 G A 15: 59,218,691 (GRCm39) T692M probably damaging Het
Zc3hav1 A T 6: 38,309,685 (GRCm39) V379D probably damaging Het
Zfp142 G T 1: 74,615,437 (GRCm39) R459S probably benign 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
IGL01448:Zfp512b APN 2 181,229,578 (GRCm39) missense possibly damaging 0.62
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
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 2016-08-02