Incidental Mutation 'PIT4504001:Zfp512'
ID 556005
Institutional Source Beutler Lab
Gene Symbol Zfp512
Ensembl Gene ENSMUSG00000062761
Gene Name zinc finger protein 512
Synonyms
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.242) question?
Stock # PIT4504001 (G1)
Quality Score 225.009
Status Not validated
Chromosome 5
Chromosomal Location 31452431-31481754 bp(+) (GRCm38)
Type of Mutation critical splice donor site (2 bp from exon)
DNA Base Change (assembly) T to A at 31476881 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000075613 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000076264] [ENSMUST00000200782] [ENSMUST00000201450] [ENSMUST00000202244]
AlphaFold Q69Z99
Predicted Effect probably null
Transcript: ENSMUST00000076264
SMART Domains Protein: ENSMUSP00000075613
Gene: ENSMUSG00000062761

DomainStartEndE-ValueType
low complexity region 51 65 N/A INTRINSIC
low complexity region 92 106 N/A INTRINSIC
Blast:ZnF_C2H2 172 197 2e-8 BLAST
ZnF_C2H2 200 223 3.78e-1 SMART
ZnF_C2H2 254 276 2.63e2 SMART
ZnF_C2H2 290 313 3.39e-3 SMART
ZnF_C2H2 408 430 7.37e1 SMART
ZnF_C2H2 442 465 3.11e-2 SMART
low complexity region 485 511 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000200782
SMART Domains Protein: ENSMUSP00000143874
Gene: ENSMUSG00000062761

DomainStartEndE-ValueType
Blast:ZnF_C2H2 55 79 9e-9 BLAST
ZnF_C2H2 83 106 1.6e-3 SMART
ZnF_C2H2 137 159 1.1e0 SMART
ZnF_C2H2 173 196 1.5e-5 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000201450
SMART Domains Protein: ENSMUSP00000144433
Gene: ENSMUSG00000062761

DomainStartEndE-ValueType
ZnF_C2H2 46 69 1.6e-3 SMART
ZnF_C2H2 100 122 1.1e0 SMART
ZnF_C2H2 136 159 1.5e-5 SMART
Predicted Effect probably null
Transcript: ENSMUST00000202244
SMART Domains Protein: ENSMUSP00000143860
Gene: ENSMUSG00000062761

DomainStartEndE-ValueType
low complexity region 51 65 N/A INTRINSIC
low complexity region 92 106 N/A INTRINSIC
Blast:ZnF_C2H2 172 197 1e-8 BLAST
ZnF_C2H2 200 223 1.6e-3 SMART
ZnF_C2H2 352 374 3.2e-1 SMART
ZnF_C2H2 386 409 1.4e-4 SMART
low complexity region 429 455 N/A INTRINSIC
Coding Region Coverage
  • 1x: 92.8%
  • 3x: 90.6%
  • 10x: 84.7%
  • 20x: 71.6%
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a protein containing four putative zinc finger motifs. Zinc finger motifs may bind to proteins or nucleic acids. Zinc finger-containing proteins are involved in a variety of processes, including regulation of transcription. Alternative splicing results in multiple transcript variants for this gene. [provided by RefSeq, Sep 2012]
Allele List at MGI
Other mutations in this stock
Total: 55 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abtb2 T A 2: 103,717,192 C970* probably null Het
Adgrv1 G A 13: 81,559,352 P1312S probably damaging Het
Als2cr12 T A 1: 58,659,099 I348F probably benign Het
Arid5a T C 1: 36,317,625 I116T probably damaging Het
Bank1 C A 3: 136,100,419 D485Y probably damaging Het
Cbln3 C T 14: 55,883,499 V122M probably damaging Het
Cox10 C T 11: 63,964,216 C413Y possibly damaging Het
Ctsll3 T A 13: 60,801,009 D44V probably benign Het
Cuzd1 A T 7: 131,309,800 N483K possibly damaging Het
Dcaf4 G A 12: 83,534,011 probably null Het
Ddx60 A G 8: 61,958,113 T470A probably benign Het
Dennd1b T C 1: 139,040,004 V44A probably benign Het
Dusp16 C A 6: 134,739,883 V154F possibly damaging Het
Ect2 G A 3: 27,126,948 R586* probably null Het
Ermard T A 17: 15,058,822 C460* probably null Het
Fat2 C T 11: 55,256,110 G4020D possibly damaging Het
Galnt16 G T 12: 80,592,417 E402* probably null Het
Gm5414 T G 15: 101,625,823 D282A probably damaging Het
Gm6741 C T 17: 91,236,916 Q36* probably null Het
Gm7356 A T 17: 14,001,458 L103Q probably damaging Het
Hcn1 A G 13: 117,975,875 T792A possibly damaging Het
Hemgn T C 4: 46,395,863 N458D probably benign Het
Hesx1 C A 14: 27,001,881 D140E probably benign Het
Hfe2 A T 3: 96,528,497 D357V probably damaging Het
Hmgcr A G 13: 96,663,097 I163T possibly damaging Het
Igfbpl1 T C 4: 45,813,469 T249A possibly damaging Het
Il33 A T 19: 29,952,739 H78L probably benign Het
Inpp4b A T 8: 82,041,935 D691V probably damaging Het
Itpr2 T A 6: 146,229,871 N1945I probably damaging Het
Lnpep A G 17: 17,579,027 V122A probably benign Het
Lrp2 T C 2: 69,475,403 D2938G probably damaging Het
Lrrc8c A T 5: 105,608,537 Y726F probably benign Het
Magi3 G T 3: 104,015,526 Q1292K probably benign Het
Mllt3 A C 4: 87,774,087 F546L probably damaging Het
Mrpl14 A G 17: 45,698,221 K82R probably benign Het
Noxred1 A G 12: 87,224,879 V172A possibly damaging Het
Obscn A T 11: 59,133,122 I574N probably damaging Het
Olfr133 A G 17: 38,149,169 T194A probably benign Het
Olfr175-ps1 T A 16: 58,824,308 T134S probably benign Het
Osbpl11 T A 16: 33,234,494 V649D probably benign Het
Pdlim2 G T 14: 70,166,130 P278T probably benign Het
Pm20d2 A C 4: 33,183,152 L223V probably damaging Het
Pmpcb G T 5: 21,743,390 R223L probably damaging Het
Pole2 A T 12: 69,209,985 Y255* probably null Het
Rims1 T A 1: 22,397,460 I317L Het
Scnn1g C A 7: 121,742,331 H239N probably benign Het
Spag17 A G 3: 100,103,110 probably null Het
Tenm3 A T 8: 48,293,657 F1038I probably damaging Het
Tshz2 T C 2: 169,886,051 F856L probably damaging Het
Ubtf A G 11: 102,306,682 S715P unknown Het
Usp13 A C 3: 32,905,430 S557R probably damaging Het
Usp19 T A 9: 108,492,970 S43T probably benign Het
Vmn2r7 A T 3: 64,715,976 Y308N probably benign Het
Zfp455 A G 13: 67,198,621 D32G probably damaging Het
Zfr A G 15: 12,166,158 E838G possibly damaging Het
Other mutations in Zfp512
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01540:Zfp512 APN 5 31473496 missense probably damaging 1.00
IGL02657:Zfp512 APN 5 31471157 missense probably damaging 1.00
R2054:Zfp512 UTSW 5 31465449 missense probably benign 0.03
R2228:Zfp512 UTSW 5 31465575 missense probably damaging 1.00
R2679:Zfp512 UTSW 5 31465454 missense probably benign 0.00
R2982:Zfp512 UTSW 5 31476778 splice site probably null
R3855:Zfp512 UTSW 5 31480249 missense possibly damaging 0.88
R3857:Zfp512 UTSW 5 31472840 missense probably damaging 1.00
R3858:Zfp512 UTSW 5 31472840 missense probably damaging 1.00
R4603:Zfp512 UTSW 5 31480226 missense probably benign 0.07
R4827:Zfp512 UTSW 5 31472814 missense probably benign 0.16
R4915:Zfp512 UTSW 5 31476865 missense probably damaging 1.00
R4918:Zfp512 UTSW 5 31476865 missense probably damaging 1.00
R5906:Zfp512 UTSW 5 31480064 missense probably damaging 1.00
R6520:Zfp512 UTSW 5 31466640 missense probably damaging 1.00
R7508:Zfp512 UTSW 5 31473539 missense possibly damaging 0.95
R8485:Zfp512 UTSW 5 31480057 missense probably damaging 0.98
R8513:Zfp512 UTSW 5 31480081 missense probably damaging 0.98
R8768:Zfp512 UTSW 5 31473538 missense probably damaging 0.98
R8795:Zfp512 UTSW 5 31476790 missense probably damaging 1.00
R9055:Zfp512 UTSW 5 31480189 nonsense probably null
R9214:Zfp512 UTSW 5 31480090 missense probably damaging 1.00
R9440:Zfp512 UTSW 5 31471015 missense possibly damaging 0.92
R9551:Zfp512 UTSW 5 31466332 missense probably benign
R9552:Zfp512 UTSW 5 31466332 missense probably benign
R9635:Zfp512 UTSW 5 31466325 missense probably benign 0.02
Predicted Primers PCR Primer
(F):5'- TGATTAAGACATTCCCCGTTCC -3'
(R):5'- AGAATTATAGGGGCTCAAACATGC -3'

Sequencing Primer
(F):5'- GATTAAGACATTCCCCGTTCCTTTTC -3'
(R):5'- GCCAGCCACAGTGAGCTTTATC -3'
Posted On 2019-06-07