Mutagenetix > Incidental Mutation

Incidental Mutation 'R1954:Patz1'

217581

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

039968-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.934) question?

Stock #

R1954 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

3239131-3259083 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to G at 3241088 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Alanine at position 159 (S159A)

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: S159A

PolyPhen 2 Score 0.984 (Sensitivity: 0.74; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000050684
Gene: ENSMUSG00000020453
AA Change: S159A

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 damaging
Transcript: ENSMUST00000093402
AA Change: S159A

PolyPhen 2 Score 0.984 (Sensitivity: 0.74; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000091103
Gene: ENSMUSG00000020453
AA Change: S159A

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

probably damaging
Transcript: ENSMUST00000094471
AA Change: S159A

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000092043
Gene: ENSMUSG00000020453
AA Change: S159A

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
low complexity region	450	466	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000101644

Predicted Effect

probably damaging
Transcript: ENSMUST00000110043
AA Change: S159A

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000105670
Gene: ENSMUSG00000020453
AA Change: S159A

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: ENSMUST00000153603

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000136285

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000144396

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000142561

Meta Mutation Damage Score

0.4699

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 96.8%
20x: 94.0%

Validation Efficiency

97% (101/104)

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: 100 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adamts15	T	A	9: 30,822,004 (GRCm39)	M478L	probably benign	Het
Akap8l	T	A	17: 32,555,710 (GRCm39)	Y123F	possibly damaging	Het
Anapc4	T	G	5: 53,003,967 (GRCm39)		probably benign	Het
Arap3	A	G	18: 38,115,055 (GRCm39)	V987A	probably damaging	Het
Atp2b4	T	A	1: 133,667,730 (GRCm39)	T105S	probably damaging	Het
Atp6v0d1	A	G	8: 106,292,525 (GRCm39)	L7P	probably damaging	Het
Atp6v1b2	T	C	8: 69,558,555 (GRCm39)	V341A	possibly damaging	Het
Baz2b	C	A	2: 59,799,087 (GRCm39)	A346S	probably benign	Het
Brpf3	G	A	17: 29,025,533 (GRCm39)	S202N	probably benign	Het
Btnl4	T	C	17: 34,691,904 (GRCm39)	K233E	possibly damaging	Het
Capn7	A	G	14: 31,082,107 (GRCm39)	T438A	probably damaging	Het
Cars2	A	T	8: 11,600,286 (GRCm39)	Y68N	probably damaging	Het
Cbx2	G	T	11: 118,919,166 (GRCm39)	G244W	probably damaging	Het
Ccr4	A	T	9: 114,321,753 (GRCm39)	V104D	probably damaging	Het
Cdc5l	T	C	17: 45,737,442 (GRCm39)		probably null	Het
Cep170	A	T	1: 176,583,950 (GRCm39)	C810S	probably benign	Het
Cfap299	A	T	5: 98,714,612 (GRCm39)		probably benign	Het
Clp1	T	C	2: 84,554,395 (GRCm39)	D258G	probably damaging	Het
Clstn3	T	C	6: 124,436,257 (GRCm39)	E164G	possibly damaging	Het
Col28a1	T	C	6: 7,998,516 (GRCm39)	E1131G	probably damaging	Het
Cps1	A	G	1: 67,234,355 (GRCm39)	D914G	possibly damaging	Het
Ctnnal1	C	T	4: 56,817,242 (GRCm39)		probably benign	Het
Cyp2c38	A	G	19: 39,393,131 (GRCm39)	L312P	probably damaging	Het
Cytip	T	C	2: 58,038,265 (GRCm39)	N99D	possibly damaging	Het
Dennd4a	A	T	9: 64,759,749 (GRCm39)	T285S	probably benign	Het
Dhx8	A	G	11: 101,644,105 (GRCm39)	S842G	probably damaging	Het
Disp1	A	T	1: 182,870,107 (GRCm39)	M771K	probably damaging	Het
Dnah17	A	G	11: 117,915,557 (GRCm39)	I4326T	probably damaging	Het
Efcab7	T	C	4: 99,757,887 (GRCm39)	F345L	probably damaging	Het
Erc1	G	T	6: 119,774,266 (GRCm39)	Q230K	probably damaging	Het
Ern1	A	T	11: 106,312,800 (GRCm39)		probably benign	Het
Espl1	T	C	15: 102,206,823 (GRCm39)	Y96H	probably damaging	Het
Fam135a	A	T	1: 24,068,683 (GRCm39)	L533I	probably damaging	Het
Fat2	G	A	11: 55,201,910 (GRCm39)	T388I	probably benign	Het
Galnt1	T	G	18: 24,404,831 (GRCm39)		probably benign	Het
Glmn	A	G	5: 107,720,243 (GRCm39)	F212S	probably damaging	Het
Gm3604	A	T	13: 62,517,025 (GRCm39)	N444K	probably damaging	Het
Gvin-ps5	A	C	7: 105,928,888 (GRCm39)	D336E	probably damaging	Het
H1f2	T	C	13: 23,923,385 (GRCm39)	V185A	unknown	Het
H1f3	A	G	13: 23,739,690 (GRCm39)		probably benign	Het
H2-M10.3	T	C	17: 36,678,390 (GRCm39)	D145G	probably damaging	Het
Hic2	T	A	16: 17,076,857 (GRCm39)	L562Q	probably damaging	Het
Hip1r	G	T	5: 124,139,907 (GRCm39)	E1003D	probably damaging	Het
Hsfy2	C	T	1: 56,676,342 (GRCm39)	C65Y	probably benign	Het
Inpp1	T	C	1: 52,833,788 (GRCm39)	T103A	probably damaging	Het
Ints5	T	C	19: 8,872,260 (GRCm39)	V73A	probably damaging	Het
Iqch	A	T	9: 63,455,298 (GRCm39)	D166E	probably benign	Het
Klhdc3	A	T	17: 46,988,901 (GRCm39)	N96K	probably damaging	Het
Klk1b8	C	T	7: 43,603,272 (GRCm39)		probably benign	Het
Klrb1	T	C	6: 128,700,036 (GRCm39)		probably null	Het
Krt71	C	A	15: 101,643,901 (GRCm39)	G446*	probably null	Het
Lars1	G	A	18: 42,343,115 (GRCm39)	R1101C	probably damaging	Het
Lemd3	G	T	10: 120,814,845 (GRCm39)	S129R	probably damaging	Het
Lrp1b	A	G	2: 40,748,453 (GRCm39)	L3015P	probably damaging	Het
Mdga2	T	C	12: 66,533,482 (GRCm39)		probably benign	Het
Mlst8	A	T	17: 24,696,195 (GRCm39)	I178N	probably damaging	Het
Mon2	A	T	10: 122,874,388 (GRCm39)	I320N	probably damaging	Het
Morc2b	T	C	17: 33,356,464 (GRCm39)	Y436C	probably damaging	Het
Moxd1	T	A	10: 24,155,781 (GRCm39)	M295K	probably benign	Het
Mrps5	T	A	2: 127,438,817 (GRCm39)		probably null	Het
Mtor	C	A	4: 148,552,730 (GRCm39)	S744R	probably damaging	Het
Myo3a	T	A	2: 22,246,037 (GRCm39)	D61E	probably damaging	Het
Nars1	C	T	18: 64,633,635 (GRCm39)	R545Q	probably damaging	Het
Ncoa6	A	G	2: 155,248,741 (GRCm39)	V1521A	possibly damaging	Het
Ndor1	T	C	2: 25,145,305 (GRCm39)	E20G	possibly damaging	Het
Nipsnap3b	T	C	4: 53,017,213 (GRCm39)		probably benign	Het
Notch3	G	T	17: 32,385,652 (GRCm39)	A39E	probably benign	Het
Or1j16	A	G	2: 36,530,227 (GRCm39)	M59V	possibly damaging	Het
Or2a14	T	C	6: 43,130,911 (GRCm39)	I224T	possibly damaging	Het
Or6z3	G	T	7: 6,464,144 (GRCm39)	W212L	probably benign	Het
Otud3	T	C	4: 138,625,343 (GRCm39)	K237R	possibly damaging	Het
Papola	T	A	12: 105,794,532 (GRCm39)		probably null	Het
Parl	T	A	16: 20,121,077 (GRCm39)	M1L	possibly damaging	Het
Parp14	G	T	16: 35,678,671 (GRCm39)	N432K	probably benign	Het
Prpf6	T	G	2: 181,273,870 (GRCm39)	M338R	probably benign	Het
Psd3	A	G	8: 68,149,727 (GRCm39)	L343P	probably damaging	Het
Ptpn23	A	T	9: 110,215,393 (GRCm39)	N1422K	probably damaging	Het
Rab19	A	T	6: 39,361,016 (GRCm39)	T55S	probably benign	Het
Sh3yl1	A	G	12: 30,972,332 (GRCm39)	K34E	possibly damaging	Het
Skint8	T	A	4: 111,807,278 (GRCm39)	F321L	possibly damaging	Het
Slc25a46	A	T	18: 31,733,294 (GRCm39)		probably null	Het
Slc26a3	T	C	12: 31,500,815 (GRCm39)	L184S	probably damaging	Het
Slc39a10	A	T	1: 46,874,334 (GRCm39)	S323T	possibly damaging	Het
Sorbs2	G	T	8: 46,198,775 (GRCm39)	R20L	probably benign	Het
Stk32a	A	T	18: 43,345,090 (GRCm39)	D13V	probably benign	Het
Tab2	T	C	10: 7,795,094 (GRCm39)	T463A	probably damaging	Het
Tenm2	T	A	11: 35,938,374 (GRCm39)	N1433I	possibly damaging	Het
Tmem200c	A	T	17: 69,147,956 (GRCm39)	I180F	probably damaging	Het
Tmem232	G	T	17: 65,791,482 (GRCm39)	H129N	probably benign	Het
Tmem242	T	C	17: 5,489,854 (GRCm39)	T47A	possibly damaging	Het
Ube2d1	A	T	10: 71,120,953 (GRCm39)	M1K	probably null	Het
Ube2frt	A	G	12: 36,140,595 (GRCm39)		probably benign	Het
Uckl1	T	C	2: 181,212,320 (GRCm39)	Q332R	probably benign	Het
Unc5b	T	C	10: 60,605,044 (GRCm39)		probably benign	Het
Vmn2r114	T	C	17: 23,530,086 (GRCm39)	Y107C	probably benign	Het
Vmn2r82	A	T	10: 79,231,890 (GRCm39)	S630C	probably damaging	Het
Wdr25	T	A	12: 108,864,467 (GRCm39)	V204E	probably damaging	Het
Xab2	T	A	8: 3,666,094 (GRCm39)	D227V	probably damaging	Het
Zfp286	A	G	11: 62,674,534 (GRCm39)	S104P	possibly damaging	Het
Zfp345	T	C	2: 150,316,741 (GRCm39)	D22G	probably damaging	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
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

Predicted Primers

PCR Primer
(F):5'- TGCAGCGAGTACTTTGAGTC -3'
(R):5'- AGAAGCTTGGCCCGCAATAG -3'

Sequencing Primer
(F):5'- TGTTCAGCGCCCAGTTAG -3'
(R):5'- AATAGCAGCACCTGTGGC -3'

Posted On

2014-08-01