Incidental Mutation 'IGL02981:Patz1'
ID 406545
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Patz1
Ensembl Gene ENSMUSG00000020453
Gene Name POZ (BTB) and AT hook containing zinc finger 1
Synonyms MAZR, 8430401L15Rik, POZ-AT hook-zinc finger protein, Zfp278
Accession Numbers
Essential gene? Probably essential (E-score: 0.934) question?
Stock # IGL02981
Quality Score
Status
Chromosome 11
Chromosomal Location 3239131-3259083 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 3240656 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Histidine at position 15 (Y15H)
Ref Sequence ENSEMBL: ENSMUSP00000105670 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000057089] [ENSMUST00000093402] [ENSMUST00000094471] [ENSMUST00000110043] [ENSMUST00000134089]
AlphaFold Q5NBY9
Predicted Effect probably damaging
Transcript: ENSMUST00000057089
AA Change: Y15H

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000050684
Gene: ENSMUSG00000020453
AA Change: Y15H

DomainStartEndE-ValueType
BTB 41 160 7.97e-24 SMART
low complexity region 209 224 N/A INTRINSIC
AT_hook 264 276 1.74e-1 SMART
ZnF_C2H2 292 314 1.18e-2 SMART
AT_hook 345 357 2.82e2 SMART
ZnF_C2H2 355 377 8.94e-3 SMART
ZnF_C2H2 383 405 5.21e-4 SMART
ZnF_C2H2 413 436 3.39e-3 SMART
ZnF_C2H2 442 464 1.45e-2 SMART
ZnF_C2H2 468 489 2.01e1 SMART
ZnF_C2H2 559 582 1.98e-4 SMART
low complexity region 585 598 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000093402
AA Change: Y15H

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000091103
Gene: ENSMUSG00000020453
AA Change: Y15H

DomainStartEndE-ValueType
BTB 41 160 7.97e-24 SMART
low complexity region 209 224 N/A INTRINSIC
AT_hook 264 276 1.74e-1 SMART
ZnF_C2H2 292 314 1.18e-2 SMART
AT_hook 345 357 2.82e2 SMART
ZnF_C2H2 355 377 8.94e-3 SMART
ZnF_C2H2 383 405 5.21e-4 SMART
ZnF_C2H2 413 436 3.39e-3 SMART
ZnF_C2H2 442 464 1.45e-2 SMART
ZnF_C2H2 468 489 2.01e1 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000094471
AA Change: Y15H

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000092043
Gene: ENSMUSG00000020453
AA Change: Y15H

DomainStartEndE-ValueType
BTB 41 160 7.97e-24 SMART
low complexity region 209 224 N/A INTRINSIC
AT_hook 264 276 1.74e-1 SMART
ZnF_C2H2 292 314 1.18e-2 SMART
AT_hook 345 357 2.82e2 SMART
ZnF_C2H2 355 377 8.94e-3 SMART
ZnF_C2H2 383 405 5.21e-4 SMART
ZnF_C2H2 413 436 3.39e-3 SMART
low complexity region 450 466 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000101644
Predicted Effect probably damaging
Transcript: ENSMUST00000110043
AA Change: Y15H

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000105670
Gene: ENSMUSG00000020453
AA Change: Y15H

DomainStartEndE-ValueType
BTB 41 160 7.97e-24 SMART
low complexity region 209 224 N/A INTRINSIC
AT_hook 264 276 1.74e-1 SMART
ZnF_C2H2 292 314 1.18e-2 SMART
AT_hook 345 357 2.82e2 SMART
ZnF_C2H2 355 377 8.94e-3 SMART
ZnF_C2H2 383 405 5.21e-4 SMART
ZnF_C2H2 413 436 3.39e-3 SMART
ZnF_C2H2 442 464 1.45e-2 SMART
ZnF_C2H2 468 489 2.01e1 SMART
ZnF_C2H2 495 517 1.26e-2 SMART
Pfam:zf-C2H2_assoc3 536 604 6.5e-36 PFAM
ZnF_C2H2 605 628 1.98e-4 SMART
low complexity region 631 644 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000123983
Predicted Effect noncoding transcript
Transcript: ENSMUST00000142561
Predicted Effect noncoding transcript
Transcript: ENSMUST00000144396
Predicted Effect noncoding transcript
Transcript: ENSMUST00000153603
Predicted Effect noncoding transcript
Transcript: ENSMUST00000136285
Predicted Effect probably benign
Transcript: ENSMUST00000134089
SMART Domains Protein: ENSMUSP00000138522
Gene: ENSMUSG00000020453

DomainStartEndE-ValueType
ZnF_C2H2 5 29 2.82e0 SMART
ZnF_C2H2 33 54 2.01e1 SMART
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene contains an A-T hook DNA binding motif which usually binds to other DNA binding structures to play an important role in chromatin modeling and transcription regulation. Its Poz domain is thought to function as a site for protein-protein interaction and is required for transcriptional repression, and the zinc-fingers comprise the DNA binding domain. Since the encoded protein has typical features of a transcription factor, it is postulated to be a repressor of gene expression. In small round cell sarcoma, this gene is fused to EWS by a small inversion of 22q, then the hybrid is thought to be translocated (t(1;22)(p36.1;q12). The rearrangement of chromosome 22 involves intron 8 of EWS and exon 1 of this gene creating a chimeric sequence containing the transactivation domain of EWS fused to zinc finger domain of this protein. This is a distinct example of an intra-chromosomal rearrangement of chromosome 22. Four alternatively spliced transcript variants are described for this gene. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a null allele exhibit some embryonic and fetal lethality, exencephaly, nervous system defects, outflow defects, transposition of great arteries, postnatal growth retardation and male and female infertility. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 39 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abhd12 A G 2: 150,675,044 (GRCm39) S392P probably benign Het
Adam23 G A 1: 63,610,112 (GRCm39) V705I probably damaging Het
Ank2 T G 3: 126,728,211 (GRCm39) D794A possibly damaging Het
Ank2 C A 3: 126,749,519 (GRCm39) E503D probably damaging Het
Aqr T C 2: 113,965,305 (GRCm39) probably benign Het
Atp9b A G 18: 80,797,504 (GRCm39) V857A possibly damaging Het
Banp T C 8: 122,705,303 (GRCm39) Y58H possibly damaging Het
Cacna1e T A 1: 154,347,171 (GRCm39) N999Y probably benign Het
Cd14 T C 18: 36,859,532 (GRCm39) probably benign Het
Crmp1 T C 5: 37,443,770 (GRCm39) I447T probably damaging Het
Dip2a A G 10: 76,112,255 (GRCm39) V1090A possibly damaging Het
Ep400 T A 5: 110,903,969 (GRCm39) H210L possibly damaging Het
Ep400 T A 5: 110,839,476 (GRCm39) probably benign Het
Fam243 T C 16: 92,117,757 (GRCm39) N177S probably benign Het
Fbxw26 A G 9: 109,573,862 (GRCm39) F97L probably benign Het
Fut8 C A 12: 77,521,812 (GRCm39) P484T probably damaging Het
Golph3 A G 15: 12,349,550 (GRCm39) E190G probably benign Het
Hectd1 A T 12: 51,815,670 (GRCm39) D1472E possibly damaging Het
Hnrnpdl T C 5: 100,184,958 (GRCm39) I298V possibly damaging Het
Jakmip2 C A 18: 43,695,595 (GRCm39) probably null Het
Kcnj5 G A 9: 32,233,877 (GRCm39) T146I probably damaging Het
Lyst T G 13: 13,809,496 (GRCm39) F389V probably damaging Het
Myo1b A G 1: 51,817,532 (GRCm39) S577P probably damaging Het
Myo3b T C 2: 69,938,969 (GRCm39) V114A probably damaging Het
Or10a2 C A 7: 106,673,758 (GRCm39) T241N probably damaging Het
Pappa2 C T 1: 158,678,714 (GRCm39) G901R probably benign Het
Pdp2 T C 8: 105,320,267 (GRCm39) W39R probably benign Het
Poc5 T C 13: 96,538,265 (GRCm39) probably null Het
Pou3f1 A G 4: 124,552,236 (GRCm39) D246G probably damaging Het
Pramel5 T A 4: 143,999,430 (GRCm39) Y219F probably benign Het
Prrc2c C T 1: 162,532,748 (GRCm39) probably benign Het
Ptpn13 A G 5: 103,676,670 (GRCm39) K678E probably damaging Het
Rps2 T C 17: 24,940,698 (GRCm39) F271L probably benign Het
Serpina3k C A 12: 104,307,250 (GRCm39) Q161K probably benign Het
Serpinb6b A G 13: 33,155,589 (GRCm39) T101A probably benign Het
Tprkb T A 6: 85,904,861 (GRCm39) D112E probably benign Het
Tubal3 A G 13: 3,983,257 (GRCm39) T346A probably benign Het
Vwde A G 6: 13,193,112 (GRCm39) F409S possibly damaging Het
Zbtb6 G A 2: 37,319,176 (GRCm39) Q251* probably null Het
Other mutations in Patz1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02187:Patz1 APN 11 3,241,134 (GRCm39) missense probably damaging 1.00
IGL02954:Patz1 APN 11 3,241,761 (GRCm39) missense probably damaging 1.00
R0153:Patz1 UTSW 11 3,243,288 (GRCm39) missense probably damaging 1.00
R0758:Patz1 UTSW 11 3,240,879 (GRCm39) missense probably damaging 1.00
R1680:Patz1 UTSW 11 3,257,812 (GRCm39) missense probably damaging 0.96
R1954:Patz1 UTSW 11 3,241,088 (GRCm39) missense probably damaging 0.99
R4610:Patz1 UTSW 11 3,256,241 (GRCm39) missense probably damaging 1.00
R4964:Patz1 UTSW 11 3,257,720 (GRCm39) missense probably damaging 1.00
R5832:Patz1 UTSW 11 3,256,277 (GRCm39) missense probably benign 0.00
R7172:Patz1 UTSW 11 3,258,032 (GRCm39) missense probably benign
R7454:Patz1 UTSW 11 3,248,297 (GRCm39) start gained probably benign
R8026:Patz1 UTSW 11 3,257,658 (GRCm39) missense probably benign 0.00
R8047:Patz1 UTSW 11 3,256,283 (GRCm39) missense probably benign
R8938:Patz1 UTSW 11 3,240,660 (GRCm39) missense probably damaging 1.00
R8946:Patz1 UTSW 11 3,241,856 (GRCm39) missense probably damaging 1.00
R8965:Patz1 UTSW 11 3,257,815 (GRCm39) missense probably damaging 1.00
R9599:Patz1 UTSW 11 3,240,720 (GRCm39) missense probably benign 0.16
R9664:Patz1 UTSW 11 3,244,562 (GRCm39) missense unknown
Z1177:Patz1 UTSW 11 3,241,751 (GRCm39) nonsense probably null
Posted On 2016-08-02