Mutagenetix > Incidental Mutation

Incidental Mutation 'R9599:Patz1'

723464

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

Accession Numbers

Essential gene?

Probably essential (E-score: 0.939) question?

Stock #

R9599 (G1)

Quality Score

205.009

Status

Not validated

Chromosome

Chromosomal Location

3239131-3259083 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 3240720 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Serine at position 36 (N36S)

Ref Sequence

ENSEMBL: ENSMUSP00000092043 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000057089] [ENSMUST00000093402] [ENSMUST00000094471] [ENSMUST00000110043] [ENSMUST00000134089]

AlphaFold

Q5NBY9

Predicted Effect

probably benign
Transcript: ENSMUST00000057089
AA Change: N36S

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

SMART Domains

Protein: ENSMUSP00000050684
Gene: ENSMUSG00000020453
AA Change: N36S

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: N36S

PolyPhen 2 Score 0.012 (Sensitivity: 0.96; Specificity: 0.78)

SMART Domains

Protein: ENSMUSP00000091103
Gene: ENSMUSG00000020453
AA Change: N36S

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 benign
Transcript: ENSMUST00000094471
AA Change: N36S

PolyPhen 2 Score 0.164 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000092043
Gene: ENSMUSG00000020453
AA Change: N36S

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

probably benign
Transcript: ENSMUST00000110043
AA Change: N36S

PolyPhen 2 Score 0.029 (Sensitivity: 0.95; Specificity: 0.82)

SMART Domains

Protein: ENSMUSP00000105670
Gene: ENSMUSG00000020453
AA Change: N36S

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

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.5%
20x: 98.4%

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: 77 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1110002E22Rik	A	G	3: 137,774,267 (GRCm39)	N1152S	probably benign	Het
Abcb6	A	T	1: 75,151,372 (GRCm39)	Y518N	possibly damaging	Het
Actr2	G	A	11: 20,030,745 (GRCm39)	P168S	probably damaging	Het
Adam12	A	G	7: 133,566,454 (GRCm39)	V332A	probably damaging	Het
Adam23	T	C	1: 63,620,359 (GRCm39)	I805T	probably benign	Het
Adar	A	G	3: 89,654,516 (GRCm39)	T883A	probably benign	Het
Aldh3a1	A	G	11: 61,107,912 (GRCm39)	T319A	probably damaging	Het
Apcdd1	T	A	18: 63,083,269 (GRCm39)		probably null	Het
Arhgef18	C	A	8: 3,482,718 (GRCm39)	A141E	possibly damaging	Het
Bub3	A	G	7: 131,170,428 (GRCm39)	T317A	probably benign	Het
Ccdc102a	A	G	8: 95,639,901 (GRCm39)	L131P	probably damaging	Het
Ccdc60	C	A	5: 116,269,265 (GRCm39)	D452Y	probably damaging	Het
Ccdc66	T	C	14: 27,219,381 (GRCm39)	E125G	probably damaging	Het
Ccdc68	A	G	18: 70,093,492 (GRCm39)	E233G	probably damaging	Het
Cep192	A	G	18: 67,968,525 (GRCm39)	D973G	probably benign	Het
Cox5b	T	A	1: 36,730,759 (GRCm39)	M31K	probably benign	Het
Cse1l	A	G	2: 166,783,386 (GRCm39)	N780S	probably benign	Het
Cyfip1	T	C	7: 55,563,277 (GRCm39)		probably null	Het
Cyp1a1	C	T	9: 57,607,770 (GRCm39)	P133S	probably benign	Het
Dcp1a	A	G	14: 30,241,497 (GRCm39)	M436V	probably benign	Het
Dcst1	G	T	3: 89,265,075 (GRCm39)	Y258*	probably null	Het
Dhx30	T	C	9: 109,914,518 (GRCm39)	E993G	possibly damaging	Het
Disc1	A	T	8: 125,814,261 (GRCm39)	M42L	possibly damaging	Het
Dnah8	CGTGTCTTCAATATTTTGTTCCCTTTCCCGTAGGTGCCGTCCTTTGACTTTCCTGTGTCTTCAATATTTTGTTCCCTTTCCCGTAGGTGCCGTCCTTTGACTTTCCTGTGTCTTCAATATTTTGTTCCCTTTCCCGTAGGTGCCGTCCTT	CGTGTCTTCAATATTTTGTTCCCTTTCCCGTAGGTGCCGTCCTTTGACTTTCCTGTGTCTTCAATATTTTGTTCCCTTTCCCGTAGGTGCCGTCCTT	17: 30,979,841 (GRCm39)		probably null	Het
Entrep3	A	G	3: 89,094,099 (GRCm39)	D304G	possibly damaging	Het
Erbb2	A	T	11: 98,318,216 (GRCm39)	D484V	probably benign	Het
Fxr2	A	G	11: 69,543,469 (GRCm39)	N657D	probably benign	Het
Gbx2	T	C	1: 89,856,635 (GRCm39)	T252A	probably damaging	Het
Gdap2	A	T	3: 100,078,264 (GRCm39)	N76I	probably damaging	Het
Gm20939	A	G	17: 95,184,666 (GRCm39)	Y438C	probably damaging	Het
Gsdma2	A	G	11: 98,540,459 (GRCm39)	E126G	possibly damaging	Het
Gsg1	T	G	6: 135,217,098 (GRCm39)	H246P	probably damaging	Het
Hjurp	TCTGGGAGGGCTTGCTCCGGGGGCAGTGTGTCCTGTTCTTGTGCAGCCCCTGCT	TCT	1: 88,194,000 (GRCm39)		probably benign	Het
Ighv1-62-1	T	C	12: 115,350,601 (GRCm39)	Q22R	possibly damaging	Het
Kcng3	A	T	17: 83,895,211 (GRCm39)	F418L	probably benign	Het
Lin54	C	A	5: 100,598,546 (GRCm39)	R593L	probably damaging	Het
Lrp1	T	A	10: 127,410,246 (GRCm39)	N1500I	probably damaging	Het
Lvrn	A	C	18: 46,999,494 (GRCm39)	S287R	probably benign	Het
Mab21l4	T	C	1: 93,087,568 (GRCm39)	E95G	possibly damaging	Het
Madd	G	A	2: 91,006,026 (GRCm39)	P390S	probably damaging	Het
Mapk8ip3	C	A	17: 25,118,124 (GRCm39)	R1281L	probably damaging	Het
Masp1	T	A	16: 23,271,698 (GRCm39)	T618S	probably benign	Het
Mgat5	A	G	1: 127,248,445 (GRCm39)	T116A	probably benign	Het
Mmp1a	TG	TGG	9: 7,465,083 (GRCm38)		probably null	Het
Mrpl39	A	G	16: 84,527,359 (GRCm39)	F176S	probably damaging	Het
Myt1l	T	C	12: 29,943,441 (GRCm39)	I953T	unknown	Het
Nedd4l	A	G	18: 65,343,400 (GRCm39)	H820R	probably damaging	Het
Nxpe3	A	T	16: 55,664,855 (GRCm39)	V455D	probably damaging	Het
Olfm4	T	C	14: 80,243,747 (GRCm39)	F105S	probably damaging	Het
Or10ak8	C	T	4: 118,773,851 (GRCm39)	R271Q	probably benign	Het
Peg3	T	A	7: 6,714,723 (GRCm39)	K166N	probably damaging	Het
Pes1	T	A	11: 3,926,118 (GRCm39)	D302E	probably benign	Het
Pierce1	TCTCTGGGGCAGGCTTAGCCTTGGGCTCCCCCGGCTCCGGCTCCTCTGGGGCAGGCTTAGCCTTGGGCTCCCCCGGCTCCGGCTCCTCTGGGGCGGGCTTAGCCTTGGGCTCCCCCGGCTCCGGCTCCTC	TCTCTGGGGCAGGCTTAGCCTTGGGCTCCCCCGGCTCCGGCTCCTCTGGGGCGGGCTTAGCCTTGGGCTCCCCCGGCTCCGGCTCCTC	2: 28,356,122 (GRCm39)		probably benign	Het
Plekhh3	G	A	11: 101,054,972 (GRCm39)	T627M	unknown	Het
Plxnd1	C	T	6: 115,940,274 (GRCm39)	R1370Q	possibly damaging	Het
Rnf20	T	C	4: 49,638,751 (GRCm39)	V191A	probably benign	Het
Scn8a	A	T	15: 100,911,172 (GRCm39)	K864M	probably damaging	Het
Sema3c	T	C	5: 17,919,452 (GRCm39)		probably null	Het
Slc24a4	C	T	12: 102,097,779 (GRCm39)	T30I	probably benign	Het
Slc27a2	A	G	2: 126,420,904 (GRCm39)	D465G	probably damaging	Het
Snrnp48	T	C	13: 38,393,920 (GRCm39)	M75T	probably benign	Het
Srgap2	A	G	1: 131,272,164 (GRCm39)	S41P		Het
St3gal5	A	G	6: 72,130,580 (GRCm39)	T391A	probably benign	Het
Stkld1	T	C	2: 26,843,297 (GRCm39)	L628P	possibly damaging	Het
Tbc1d1	T	A	5: 64,502,701 (GRCm39)	M1074K	probably benign	Het
Tent2	G	T	13: 93,322,821 (GRCm39)	Q43K	probably benign	Het
Tpsb2	T	A	17: 25,586,077 (GRCm39)	Y98*	probably null	Het
Trav6d-3	G	A	14: 52,964,144 (GRCm39)	D36N	probably benign	Het
Trim16	A	G	11: 62,731,644 (GRCm39)	Y505C	probably damaging	Het
Ttpal	A	G	2: 163,457,458 (GRCm39)	D310G	probably benign	Het
Ubox5	A	G	2: 130,441,835 (GRCm39)	I284T	probably damaging	Het
Vmn2r45	T	A	7: 8,478,457 (GRCm39)		probably null	Het
Vmn2r67	T	C	7: 84,804,941 (GRCm39)	D57G	probably damaging	Het
Wdfy4	T	C	14: 32,855,428 (GRCm39)	T729A		Het
Wdr81	A	T	11: 75,344,349 (GRCm39)	M306K	probably benign	Het
Zfp62	A	G	11: 49,106,542 (GRCm39)	D211G	probably damaging	Het
Zfyve16	T	C	13: 92,636,763 (GRCm39)	K1316E	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
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
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'- TGAGTGGTCCGCTGCAAAAG -3'
(R):5'- AACTGATGGTGTGCATCTCCAG -3'

Sequencing Primer
(F):5'- GGTCAACGACGCTTCTT -3'
(R):5'- GGTGTGCATCTCCAGTTCGC -3'

Posted On

2022-08-09