Incidental Mutation 'IGL03116:Zfp382'
ID 419442
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Zfp382
Ensembl Gene ENSMUSG00000074220
Gene Name zinc finger protein 382
Synonyms 5930415A09Rik
Accession Numbers
Essential gene? Probably non essential (E-score: 0.136) question?
Stock # IGL03116
Quality Score
Status
Chromosome 7
Chromosomal Location 29821367-29834375 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 29833614 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Proline at position 422 (S422P)
Ref Sequence ENSEMBL: ENSMUSP00000096196 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000098596] [ENSMUST00000153792]
AlphaFold B2RXC5
Predicted Effect probably damaging
Transcript: ENSMUST00000098596
AA Change: S422P

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000096196
Gene: ENSMUSG00000074220
AA Change: S422P

DomainStartEndE-ValueType
low complexity region 2 15 N/A INTRINSIC
KRAB 42 102 3.36e-39 SMART
ZnF_C2H2 325 347 1.84e-4 SMART
ZnF_C2H2 353 375 7.26e-3 SMART
ZnF_C2H2 381 403 2.71e-2 SMART
ZnF_C2H2 409 431 4.47e-3 SMART
ZnF_C2H2 437 459 2.12e-4 SMART
ZnF_C2H2 465 487 3.95e-4 SMART
ZnF_C2H2 493 515 1.12e-3 SMART
ZnF_C2H2 521 543 2.57e-3 SMART
ZnF_C2H2 549 571 3.63e-3 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000153792
SMART Domains Protein: ENSMUSP00000123508
Gene: ENSMUSG00000074220

DomainStartEndE-ValueType
low complexity region 2 15 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000156543
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a KRAB domain zinc finger transcription factor (KZNF). KZNFs play critical roles in the regulation of many cellular processes including differentiation, proliferation and apoptosis. The encoded protein inhibits activating protein 1 (AP-1) and nuclear factor kappa-B (NF-kB) signaling and may function as a tumor suppressor in multiple carcinomas. This gene is found in a cluster with other zinc finger protein genes on the long arm of chromosome 19, and alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Feb 2012]
Allele List at MGI
Other mutations in this stock
Total: 41 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1810030O07Rik T C X: 12,535,892 (GRCm39) probably benign Het
9530068E07Rik A G 11: 52,294,331 (GRCm39) I199V probably benign Het
Aasdh A T 5: 77,049,936 (GRCm39) probably null Het
Aatk T C 11: 119,907,577 (GRCm39) I84V probably benign Het
Adcy1 A G 11: 7,100,071 (GRCm39) H727R probably benign Het
Aff2 T C X: 68,878,092 (GRCm39) V626A probably benign Het
Ano2 C A 6: 125,957,134 (GRCm39) Y634* probably null Het
Apob C A 12: 8,066,350 (GRCm39) Q4407K probably damaging Het
Asz1 T C 6: 18,076,642 (GRCm39) probably benign Het
Atp2b4 T G 1: 133,656,506 (GRCm39) T715P possibly damaging Het
Brip1 G T 11: 85,955,735 (GRCm39) S926* probably null Het
Cpd A T 11: 76,702,539 (GRCm39) Y610N probably damaging Het
Dennd4c T C 4: 86,707,057 (GRCm39) probably benign Het
Dido1 G A 2: 180,312,772 (GRCm39) T1041I probably damaging Het
Dpp8 A T 9: 64,973,749 (GRCm39) T658S probably damaging Het
Efcab3 T A 11: 104,612,359 (GRCm39) S661T probably benign Het
Fcer1a G A 1: 173,049,128 (GRCm39) Q172* probably null Het
Frem3 A G 8: 81,339,435 (GRCm39) E576G possibly damaging Het
Gcsam T C 16: 45,440,431 (GRCm39) F136S possibly damaging Het
Glmn T G 5: 107,698,949 (GRCm39) T430P probably damaging Het
Gm5934 T C X: 24,340,931 (GRCm39) N194S probably benign Het
Gpatch11 T A 17: 79,151,282 (GRCm39) L231* probably null Het
Hibadh A T 6: 52,525,917 (GRCm39) N244K probably damaging Het
Kank2 A G 9: 21,684,060 (GRCm39) V723A probably damaging Het
Kcnn2 A T 18: 45,788,273 (GRCm39) D192V probably damaging Het
Ksr2 G A 5: 117,846,022 (GRCm39) E630K probably benign Het
Lmod3 T C 6: 97,224,156 (GRCm39) H555R possibly damaging Het
Mycs A G X: 5,380,922 (GRCm39) F53L probably damaging Het
Ndufa10 G A 1: 92,392,109 (GRCm39) Q215* probably null Het
Ninl C T 2: 150,806,139 (GRCm39) A361T probably damaging Het
Pbsn A G X: 76,891,624 (GRCm39) C58R probably damaging Het
Pcsk1 T A 13: 75,280,335 (GRCm39) L720Q probably damaging Het
Prss12 T C 3: 123,299,925 (GRCm39) F679L probably benign Het
Sohlh1 C T 2: 25,735,660 (GRCm39) probably null Het
Sspo T C 6: 48,471,035 (GRCm39) F701L probably benign Het
Tdp1 T C 12: 99,921,290 (GRCm39) S609P probably benign Het
Tmtc4 T A 14: 123,165,044 (GRCm39) N605I probably benign Het
Tnc G A 4: 63,932,270 (GRCm39) P715S probably damaging Het
Ubn2 T C 6: 38,468,834 (GRCm39) S1181P probably damaging Het
Ubr4 T C 4: 139,206,892 (GRCm39) probably benign Het
Vmn1r46 T C 6: 89,953,898 (GRCm39) F249S probably benign Het
Other mutations in Zfp382
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02724:Zfp382 APN 7 29,833,162 (GRCm39) missense probably benign 0.00
R1051:Zfp382 UTSW 7 29,833,435 (GRCm39) missense probably damaging 1.00
R1371:Zfp382 UTSW 7 29,833,114 (GRCm39) missense probably benign 0.36
R1513:Zfp382 UTSW 7 29,832,721 (GRCm39) missense probably benign 0.04
R1525:Zfp382 UTSW 7 29,833,144 (GRCm39) missense probably damaging 0.99
R2416:Zfp382 UTSW 7 29,833,828 (GRCm39) missense probably damaging 1.00
R2432:Zfp382 UTSW 7 29,833,174 (GRCm39) missense probably benign
R4864:Zfp382 UTSW 7 29,832,885 (GRCm39) missense possibly damaging 0.58
R4956:Zfp382 UTSW 7 29,830,979 (GRCm39) missense probably benign 0.00
R5734:Zfp382 UTSW 7 29,833,855 (GRCm39) missense probably damaging 1.00
R5796:Zfp382 UTSW 7 29,832,774 (GRCm39) missense probably damaging 1.00
R6062:Zfp382 UTSW 7 29,833,015 (GRCm39) missense probably damaging 1.00
R6300:Zfp382 UTSW 7 29,831,054 (GRCm39) splice site probably null
R6312:Zfp382 UTSW 7 29,833,963 (GRCm39) missense probably damaging 0.99
R6894:Zfp382 UTSW 7 29,825,261 (GRCm39) missense probably benign
R7764:Zfp382 UTSW 7 29,832,700 (GRCm39) missense probably benign 0.04
R7771:Zfp382 UTSW 7 29,832,760 (GRCm39) missense probably damaging 1.00
R7794:Zfp382 UTSW 7 29,831,035 (GRCm39) missense possibly damaging 0.84
R8207:Zfp382 UTSW 7 29,833,840 (GRCm39) missense possibly damaging 0.74
R8267:Zfp382 UTSW 7 29,833,929 (GRCm39) missense probably damaging 1.00
Posted On 2016-08-02