Mutagenetix > Incidental Mutation

Incidental Mutation 'R4964:Patz1'

383809

Institutional Source

Beutler Lab

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

MMRRC Submission

042561-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.934) question?

Stock #

R4964 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

3239131-3259083 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 3257720 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 573 (D573G)

Ref Sequence

ENSEMBL: ENSMUSP00000105670 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000057089] [ENSMUST00000093402] [ENSMUST00000110043] [ENSMUST00000134089] [ENSMUST00000154319]

AlphaFold

Q5NBY9

Predicted Effect

probably damaging
Transcript: ENSMUST00000057089
AA Change: D527G

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000050684
Gene: ENSMUSG00000020453
AA Change: D527G

Domain	Start	End	E-Value	Type
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 benign
Transcript: ENSMUST00000093402

SMART Domains

Protein: ENSMUSP00000091103
Gene: ENSMUSG00000020453

Domain	Start	End	E-Value	Type
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

noncoding transcript
Transcript: ENSMUST00000101644

Predicted Effect

probably damaging
Transcript: ENSMUST00000110043
AA Change: D573G

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000105670
Gene: ENSMUSG00000020453
AA Change: D573G

Domain	Start	End	E-Value	Type
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

probably benign
Transcript: ENSMUST00000134089

SMART Domains

Protein: ENSMUSP00000138522
Gene: ENSMUSG00000020453

Domain	Start	End	E-Value	Type
ZnF_C2H2	5	29	2.82e0	SMART
ZnF_C2H2	33	54	2.01e1	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000152576

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000155332

Predicted Effect

probably benign
Transcript: ENSMUST00000154319

SMART Domains

Protein: ENSMUSP00000122832
Gene: ENSMUSG00000020453

Domain	Start	End	E-Value	Type
ZnF_C2H2	6	25	5.68e1	SMART
ZnF_C2H2	29	50	2.01e1	SMART

Meta Mutation Damage Score

0.1267

Coding Region Coverage

1x: 99.1%
3x: 98.4%
10x: 96.5%
20x: 93.0%

Validation Efficiency

98% (100/102)

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: 92 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4833420G17Rik	T	C	13: 119,610,757 (GRCm39)		probably benign	Het
9030619P08Rik	T	A	15: 75,303,267 (GRCm39)		noncoding transcript	Het
A430033K04Rik	G	T	5: 138,645,119 (GRCm39)	E335*	probably null	Het
Abcb1b	A	T	5: 8,862,671 (GRCm39)	T118S	probably benign	Het
Abcb1b	T	A	5: 8,911,602 (GRCm39)	I133N	probably damaging	Het
Acox3	A	G	5: 35,747,080 (GRCm39)	N166D	probably damaging	Het
Adam5	T	C	8: 25,276,248 (GRCm39)	Y473C	probably damaging	Het
Ankmy2	A	G	12: 36,236,917 (GRCm39)	K242E	possibly damaging	Het
Apc2	A	C	10: 80,149,841 (GRCm39)	I1603L	probably benign	Het
Arhgef25	T	A	10: 127,021,472 (GRCm39)	I249F	probably damaging	Het
Birc2	T	C	9: 7,860,553 (GRCm39)	H255R	probably benign	Het
Cables1	A	T	18: 12,074,334 (GRCm39)	R486W	possibly damaging	Het
Caskin1	A	T	17: 24,726,135 (GRCm39)	D1414V	probably damaging	Het
Ccdc175	A	G	12: 72,227,619 (GRCm39)	S55P	probably damaging	Het
Ccdc57	A	T	11: 120,751,978 (GRCm39)	S868T	probably benign	Het
Ccny	A	T	18: 9,449,516 (GRCm39)		probably null	Het
Cdc34b	A	T	11: 94,633,087 (GRCm39)	I96F	probably damaging	Het
Ctnnd1	A	G	2: 84,452,417 (GRCm39)	F69L	possibly damaging	Het
Cul9	C	T	17: 46,849,451 (GRCm39)	D565N	probably damaging	Het
Cxcl16	A	G	11: 70,346,519 (GRCm39)	V208A	probably benign	Het
Cyb5rl	A	G	4: 106,926,329 (GRCm39)		probably benign	Het
Ddx18	T	C	1: 121,493,823 (GRCm39)	K54E	probably benign	Het
Ddx60	G	A	8: 62,432,372 (GRCm39)	V885I	probably damaging	Het
Dlg1	C	T	16: 31,573,626 (GRCm39)	T9I	probably benign	Het
Dnase1	T	C	16: 3,855,771 (GRCm39)		probably benign	Het
Drd4	T	C	7: 140,873,690 (GRCm39)	M114T	probably damaging	Het
Egfr	A	T	11: 16,858,949 (GRCm39)	D976V	probably damaging	Het
Eif2s1	T	A	12: 78,926,785 (GRCm39)	N178K	probably benign	Het
Exoc3l4	A	G	12: 111,395,155 (GRCm39)	H591R	probably benign	Het
Galntl6	T	C	8: 59,152,945 (GRCm39)		probably benign	Het
Glipr1l2	T	A	10: 111,942,904 (GRCm39)	I253K	possibly damaging	Het
Gnat1	A	T	9: 107,554,433 (GRCm39)	M115K	probably benign	Het
Gtsf2	T	C	15: 103,352,755 (GRCm39)	E88G	possibly damaging	Het
Hormad1	T	A	3: 95,492,531 (GRCm39)		probably null	Het
Hydin	A	T	8: 111,217,305 (GRCm39)	I1398F	possibly damaging	Het
Ifnar1	T	C	16: 91,301,974 (GRCm39)	V483A	probably benign	Het
Ints11	T	C	4: 155,971,385 (GRCm39)	F278L	probably damaging	Het
Ints6	A	G	14: 62,939,911 (GRCm39)	L593P	probably damaging	Het
Krt7	C	T	15: 101,311,853 (GRCm39)	R104C	probably damaging	Het
Map4k1	A	T	7: 28,682,427 (GRCm39)	H16L	probably benign	Het
Mef2d	T	A	3: 88,075,404 (GRCm39)	I422N	probably damaging	Het
Mipep	G	T	14: 61,022,231 (GRCm39)	R32L	probably damaging	Het
Mon1a	A	G	9: 107,779,850 (GRCm39)	E473G	probably damaging	Het
Mterf2	T	A	10: 84,955,979 (GRCm39)	Q215L	probably damaging	Het
Mybpc1	T	A	10: 88,391,525 (GRCm39)	Y324F	probably benign	Het
Myh11	T	C	16: 14,023,818 (GRCm39)	E1512G	probably damaging	Het
Myo1g	A	T	11: 6,465,976 (GRCm39)	F370I	probably damaging	Het
Myo5c	T	A	9: 75,204,791 (GRCm39)	M1548K	possibly damaging	Het
Myof	T	A	19: 37,924,300 (GRCm39)	I1306F	probably damaging	Het
Nle1	A	G	11: 82,799,018 (GRCm39)	F21S	probably damaging	Het
Noc2l	C	G	4: 156,330,368 (GRCm39)	D513E	probably damaging	Het
Or1e17	A	T	11: 73,832,028 (GRCm39)	I319F	probably benign	Het
Or2z2	A	G	11: 58,346,733 (GRCm39)	V14A	probably benign	Het
Orc1	T	C	4: 108,471,670 (GRCm39)	*841R	probably null	Het
Pcdhga3	A	G	18: 37,809,154 (GRCm39)	T536A	probably benign	Het
Pde6h	C	T	6: 136,938,201 (GRCm39)	T58I	possibly damaging	Het
Pip5k1a	T	C	3: 94,978,094 (GRCm39)	I275V	probably benign	Het
Pkd1	T	C	17: 24,805,042 (GRCm39)		probably null	Het
Polr1e	G	A	4: 45,029,429 (GRCm39)	A297T	probably damaging	Het
Polrmt	A	G	10: 79,582,385 (GRCm39)	M1T	probably null	Het
Rbm34	T	C	8: 127,678,087 (GRCm39)	D269G	possibly damaging	Het
Rnf122	T	A	8: 31,602,177 (GRCm39)	M1K	probably null	Het
Rnf32	G	A	5: 29,403,576 (GRCm39)	R7H	probably benign	Het
Ryr2	T	C	13: 11,729,497 (GRCm39)	E2375G	possibly damaging	Het
Ryr2	T	C	13: 11,848,878 (GRCm39)	T361A	probably benign	Het
Serpina3m	T	C	12: 104,355,360 (GRCm39)	I9T	probably benign	Het
Serpinb9	T	A	13: 33,192,847 (GRCm39)	W135R	probably damaging	Het
Sf3b1	T	C	1: 55,038,871 (GRCm39)	N804S	probably benign	Het
Shroom1	A	G	11: 53,355,999 (GRCm39)	T350A	probably benign	Het
Slc24a5	G	A	2: 124,910,188 (GRCm39)	V30I	probably benign	Het
Slc38a8	A	T	8: 120,209,423 (GRCm39)		probably null	Het
Smarcd1	A	G	15: 99,605,862 (GRCm39)	S378G	possibly damaging	Het
Stx1b	T	C	7: 127,407,093 (GRCm39)	I55V	probably damaging	Het
Sult2a8	A	G	7: 14,159,457 (GRCm39)	V54A	probably damaging	Het
Tacc2	T	C	7: 130,330,507 (GRCm39)	S264P	probably damaging	Het
Tbc1d4	A	T	14: 101,695,610 (GRCm39)	Y943N	probably damaging	Het
Tlr5	T	C	1: 182,801,038 (GRCm39)	I114T	probably benign	Het
Tmco6	T	C	18: 36,868,555 (GRCm39)		probably null	Het
Treh	T	C	9: 44,593,945 (GRCm39)	L144P	probably damaging	Het
Trmt2a	T	A	16: 18,067,418 (GRCm39)	C30*	probably null	Het
Ttbk2	A	T	2: 120,603,758 (GRCm39)	F258L	possibly damaging	Het
Ttn	T	C	2: 76,785,380 (GRCm39)	D665G	probably damaging	Het
Unc93b1	T	C	19: 3,992,023 (GRCm39)		probably null	Het
Uroc1	T	C	6: 90,322,376 (GRCm39)	L300P	probably damaging	Het
Vps35l	T	C	7: 118,379,491 (GRCm39)	I426T	possibly damaging	Het
Xbp1	A	G	11: 5,471,125 (GRCm39)	E44G	probably damaging	Het
Zfp451	A	T	1: 33,816,942 (GRCm39)	V119D	probably damaging	Het
Zfp457	T	A	13: 67,441,342 (GRCm39)	H315L	probably damaging	Het
Zfp518a	T	A	19: 40,904,295 (GRCm39)	V1408D	possibly damaging	Het
Zfp52	T	G	17: 21,780,665 (GRCm39)	L171R	probably benign	Het
Zfp712	C	T	13: 67,188,676 (GRCm39)	C617Y	probably damaging	Het
Zfp770	T	C	2: 114,027,868 (GRCm39)	N67S	probably benign	Het

Other mutations in Patz1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH 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
IGL02981:Patz1	APN	11	3,240,656 (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
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

Predicted Primers

PCR Primer
(F):5'- CCAGGTTAGTGACTGAGCTG -3'
(R):5'- AGACATGTTCTGCTGGGGAG -3'

Sequencing Primer
(F):5'- ACTGAGCTGGCCTGTCATG -3'
(R):5'- CATGTTCTGCTGGGGAGAGAAAG -3'

Posted On

2016-04-27