Mutagenetix > Incidental Mutation

Incidental Mutation 'R8026:Patz1'

617720

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

067465-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.934) question?

Stock #

R8026 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

3239131-3259083 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 3257658 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Leucine at position 96 (M96L)

Ref Sequence

ENSEMBL: ENSMUSP00000138522 (fasta)

Gene Model

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

AlphaFold

Q5NBY9

Predicted Effect

probably damaging
Transcript: ENSMUST00000057089
AA Change: K506N

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

SMART Domains

Protein: ENSMUSP00000050684
Gene: ENSMUSG00000020453
AA Change: K506N

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
AA Change: M531L

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000091103
Gene: ENSMUSG00000020453
AA Change: M531L

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: ENSMUST00000110043
AA Change: K552N

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

SMART Domains

Protein: ENSMUSP00000105670
Gene: ENSMUSG00000020453
AA Change: K552N

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

probably benign
Transcript: ENSMUST00000134089
AA Change: M96L

PolyPhen 2 Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)

SMART Domains

Protein: ENSMUSP00000138522
Gene: ENSMUSG00000020453
AA Change: M96L

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000154319
AA Change: K67N

PolyPhen 2 Score 0.976 (Sensitivity: 0.76; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000122832
Gene: ENSMUSG00000020453
AA Change: K67N

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.8%

Validation Efficiency

99% (66/67)

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: 66 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcb8	T	C	5: 24,611,723 (GRCm39)	V513A	probably damaging	Het
Acsf2	C	T	11: 94,453,714 (GRCm39)	V416M	probably damaging	Het
Adrm1	G	A	2: 179,817,002 (GRCm39)	A225T	unknown	Het
Aldh9a1	T	C	1: 167,180,236 (GRCm39)		probably null	Het
Apbb2	T	C	5: 66,608,987 (GRCm39)	D220G	probably benign	Het
Bace2	T	C	16: 97,238,052 (GRCm39)	V501A	probably benign	Het
Camsap1	T	C	2: 25,828,214 (GRCm39)	N1170S	probably benign	Het
Casr	A	G	16: 36,315,979 (GRCm39)	V697A	probably damaging	Het
Clcn1	T	C	6: 42,284,595 (GRCm39)		probably null	Het
Cobl	T	C	11: 12,203,459 (GRCm39)	K1081R	probably benign	Het
Ctr9	T	A	7: 110,633,099 (GRCm39)	L116I	probably damaging	Het
Dennd4a	T	C	9: 64,780,312 (GRCm39)	F616S	probably damaging	Het
Dynlt1a	C	T	17: 6,362,089 (GRCm39)	G30S	possibly damaging	Het
Eif1	T	C	11: 100,211,274 (GRCm39)	S23P	possibly damaging	Het
Eml6	A	C	11: 29,699,973 (GRCm39)	L1721R	possibly damaging	Het
Fscb	A	G	12: 64,521,049 (GRCm39)	I139T	probably benign	Het
Fstl4	A	G	11: 52,959,496 (GRCm39)	E179G	probably damaging	Het
Fuom	T	C	7: 139,680,067 (GRCm39)	T95A		Het
Gigyf1	C	T	5: 137,523,740 (GRCm39)	H1001Y	probably damaging	Het
Gm21886	T	A	18: 80,132,961 (GRCm39)	S66C	probably damaging	Het
Helz2	G	A	2: 180,881,998 (GRCm39)	T265I	probably benign	Het
Hs6st3	G	T	14: 120,106,968 (GRCm39)	V459F	probably damaging	Het
Ido2	A	G	8: 25,025,156 (GRCm39)		probably null	Het
Idua	A	G	5: 108,818,115 (GRCm39)	I96V	probably benign	Het
Iftap	A	T	2: 101,400,989 (GRCm39)		probably benign	Het
Inpp5j	A	G	11: 3,445,171 (GRCm39)	S494P		Het
Krt19	A	G	11: 100,032,209 (GRCm39)	V285A	probably damaging	Het
Krt71	T	G	15: 101,646,817 (GRCm39)	D297A	possibly damaging	Het
L3hypdh	G	A	12: 72,131,723 (GRCm39)	R70C	probably damaging	Het
Masp1	T	C	16: 23,303,156 (GRCm39)	Y324C	probably damaging	Het
Mfap2	A	G	4: 140,741,114 (GRCm39)	D25G	possibly damaging	Het
Mmp17	G	A	5: 129,672,148 (GRCm39)		probably null	Het
Mroh7	G	A	4: 106,578,634 (GRCm39)	P15S	probably benign	Het
Muc5b	T	A	7: 141,417,373 (GRCm39)	C3440S	probably benign	Het
Naip5	C	A	13: 100,382,406 (GRCm39)	S101I	probably damaging	Het
Neb	A	T	2: 52,113,060 (GRCm39)	Y1066N		Het
Nop56	T	A	2: 130,119,188 (GRCm39)	C38S	probably benign	Het
Nup214	T	A	2: 31,923,362 (GRCm39)	L1297Q	possibly damaging	Het
Oasl2	C	A	5: 115,040,329 (GRCm39)		probably benign	Het
Or4a70	A	G	2: 89,324,132 (GRCm39)	F175L	probably damaging	Het
Or4c58	T	C	2: 89,675,273 (GRCm39)	N15D	probably benign	Het
Or51b4	A	G	7: 103,530,904 (GRCm39)	V182A	possibly damaging	Het
Or52a5	T	A	7: 103,427,547 (GRCm39)	I2F	probably benign	Het
Or5h24	T	C	16: 58,918,731 (GRCm39)	H208R	unknown	Het
Or8g4	T	C	9: 39,662,092 (GRCm39)	S137P	possibly damaging	Het
Pacrg	C	T	17: 10,795,496 (GRCm39)	V155I	probably benign	Het
Pcca	A	G	14: 122,875,794 (GRCm39)	D141G	probably benign	Het
Ptprr	A	G	10: 115,884,075 (GRCm39)	Y44C	probably damaging	Het
Rad51ap1	A	G	6: 126,911,675 (GRCm39)		probably null	Het
Raet1e	A	C	10: 22,057,198 (GRCm39)	D174A	probably damaging	Het
Rhobtb2	T	G	14: 70,034,214 (GRCm39)	D337A	probably benign	Het
Sbf2	T	C	7: 109,934,594 (GRCm39)	K1377E	probably damaging	Het
Sh3pxd2b	A	G	11: 32,361,567 (GRCm39)	K260E	probably damaging	Het
Slc4a8	A	T	15: 100,685,170 (GRCm39)	I234F	possibly damaging	Het
Srgap3	C	T	6: 112,716,325 (GRCm39)	R625H	probably benign	Het
Tbxas1	C	T	6: 39,004,830 (GRCm39)	T359I	probably benign	Het
Trim9	T	A	12: 70,337,161 (GRCm39)	S309C	probably benign	Het
Ttn	G	A	2: 76,659,483 (GRCm39)	P12191S	unknown	Het
Unc80	A	G	1: 66,522,463 (GRCm39)	R222G	possibly damaging	Het
Vmn1r202	A	T	13: 22,686,314 (GRCm39)	H34Q	possibly damaging	Het
Vmn2r61	T	A	7: 41,916,141 (GRCm39)	N251K	probably benign	Het
Vmn2r67	A	T	7: 84,785,924 (GRCm39)	Y694N	probably damaging	Het
Vwde	A	G	6: 13,205,782 (GRCm39)	F255S	probably benign	Het
Zfp532	T	G	18: 65,758,227 (GRCm39)	I720R	possibly damaging	Het
Zfp819	A	G	7: 43,267,319 (GRCm39)	T601A	probably benign	Het
Zfp853	G	T	5: 143,274,280 (GRCm39)	Q462K	unknown	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
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
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'- TCCAGGGCACTGTCATCTTG -3'
(R):5'- CACCTTCTGGATGTGTTTGTTCAAG -3'

Sequencing Primer
(F):5'- GTCATCTTGCCCCTACAGG -3'
(R):5'- AGCTCCCACATTCAGGGCATG -3'

Posted On

2020-01-23