Incidental Mutation 'R5796:Zfp382'
ID 447227
Institutional Source Beutler Lab
Gene Symbol Zfp382
Ensembl Gene ENSMUSG00000074220
Gene Name zinc finger protein 382
Synonyms 5930415A09Rik
MMRRC Submission 043387-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.136) question?
Stock # R5796 (G1)
Quality Score 225
Status Validated
Chromosome 7
Chromosomal Location 29821367-29834375 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 29832774 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Lysine to Glutamic Acid at position 142 (K142E)
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: K142E

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000096196
Gene: ENSMUSG00000074220
AA Change: K142E

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
Meta Mutation Damage Score 0.2858 question?
Coding Region Coverage
  • 1x: 99.4%
  • 3x: 98.8%
  • 10x: 97.6%
  • 20x: 96.1%
Validation Efficiency 93% (51/55)
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: 51 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700006A11Rik T C 3: 124,215,077 (GRCm39) T9A possibly damaging Het
Abcd3 G A 3: 121,578,147 (GRCm39) R160W probably damaging Het
Ap3d1 G T 10: 80,549,871 (GRCm39) T758K possibly damaging Het
Ate1 T C 7: 130,068,998 (GRCm39) Y423C probably damaging Het
Bsn C T 9: 108,003,223 (GRCm39) G394D probably damaging Het
Cacna1d T C 14: 29,788,073 (GRCm39) D1599G probably damaging Het
Cd33 A G 7: 43,182,480 (GRCm39) probably null Het
Chct1 A G 11: 85,064,101 (GRCm39) T81A probably null Het
Col12a1 T C 9: 79,611,111 (GRCm39) N154D possibly damaging Het
Crocc TCTGAGCTGCTGAGCTGC TCTGAGCTGC 4: 140,769,118 (GRCm39) probably null Het
Cts3 A T 13: 61,716,517 (GRCm39) Y40N probably damaging Het
Cyfip2 T C 11: 46,089,823 (GRCm39) N1197D probably benign Het
Dclre1b G A 3: 103,714,773 (GRCm39) Q77* probably null Het
Dsc3 T A 18: 20,104,558 (GRCm39) M590L probably benign Het
Efcab14 A T 4: 115,603,780 (GRCm39) I153F probably damaging Het
Fbxo42 T C 4: 140,927,100 (GRCm39) V460A probably benign Het
Fgl1 T G 8: 41,652,796 (GRCm39) probably benign Het
Gbf1 T C 19: 46,272,782 (GRCm39) S1697P probably benign Het
Gm10549 C A 18: 33,597,358 (GRCm39) probably benign Het
Gm15056 C A 8: 21,391,998 (GRCm39) probably benign Het
Gm17409 T A 2: 58,361,034 (GRCm39) probably benign Het
Gm20730 A G 6: 43,058,464 (GRCm39) L116P probably damaging Het
Grb2 T G 11: 115,536,698 (GRCm39) H184P probably benign Het
Hepacam2 G C 6: 3,466,200 (GRCm39) probably null Het
Hsd3b9 A T 3: 98,354,168 (GRCm39) D110E probably benign Het
Igkv4-55 T A 6: 69,584,432 (GRCm39) K60M possibly damaging Het
Itfg1 T A 8: 86,445,522 (GRCm39) H603L probably damaging Het
Katna1 C A 10: 7,636,575 (GRCm39) D366E probably damaging Het
Klk1b26 A G 7: 43,665,752 (GRCm39) Y188C probably damaging Het
Ldhd T C 8: 112,353,722 (GRCm39) T464A probably benign Het
Muc5b T C 7: 141,411,133 (GRCm39) S1360P unknown Het
Nckipsd T G 9: 108,688,813 (GRCm39) V116G probably benign Het
Nhsl1 C T 10: 18,399,998 (GRCm39) S374L probably benign Het
Oxt G A 2: 130,418,533 (GRCm39) G48D probably damaging Het
Pramel21 A G 4: 143,341,778 (GRCm39) N69S probably benign Het
Ptprk C T 10: 28,259,571 (GRCm39) T337I probably damaging Het
Rad54b A T 4: 11,615,446 (GRCm39) D818V probably benign Het
Rbpjl T C 2: 164,252,168 (GRCm39) probably benign Het
Recql5 T A 11: 115,818,691 (GRCm39) probably benign Het
Robo4 A T 9: 37,322,970 (GRCm39) D830V probably benign Het
Rps6kb1 C T 11: 86,402,677 (GRCm39) G339S probably benign Het
Rtel1 G A 2: 180,982,299 (GRCm39) E350K probably benign Het
Rtn3 A G 19: 7,434,832 (GRCm39) S368P possibly damaging Het
Smad5 A G 13: 56,871,645 (GRCm39) H80R probably damaging Het
Sppl2c T A 11: 104,078,619 (GRCm39) M473K probably benign Het
Tbrg1 A G 9: 37,563,871 (GRCm39) probably benign Het
Tcf7 A G 11: 52,152,354 (GRCm39) I65T probably benign Het
Tgm2 T C 2: 157,960,824 (GRCm39) D618G probably benign Het
Tuba3b C T 6: 145,565,408 (GRCm39) T292I probably damaging Het
Vmn1r63 G A 7: 5,806,140 (GRCm39) S164L probably benign Het
Zmym3 G A X: 100,459,406 (GRCm39) P308L probably benign Het
Other mutations in Zfp382
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02724:Zfp382 APN 7 29,833,162 (GRCm39) missense probably benign 0.00
IGL03116:Zfp382 APN 7 29,833,614 (GRCm39) missense probably damaging 1.00
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
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
Predicted Primers PCR Primer
(F):5'- TGGGCTCTTTCAATTATGTAGCC -3'
(R):5'- AGCCCTTCCGATTTGTTTATGG -3'

Sequencing Primer
(F):5'- GGCTCTTTCAATTATGTAGCCACTGC -3'
(R):5'- CCTGCTTCGAAGTCAGGATTGATC -3'
Posted On 2016-12-15