Mutagenetix > Incidental Mutation

Incidental Mutation 'R4603:Pias2'

345826

Institutional Source

Beutler Lab

Gene Symbol

Pias2

Ensembl Gene

ENSMUSG00000025423

Gene Name

protein inhibitor of activated STAT 2

Synonyms

PIASxb, PIASxalpha, PIASxbeta, ARIP3, Miz1, 6330408K17Rik, Dib

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R4603 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

77152904-77241496 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 77217803 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Glutamic Acid at position 335 (V335E)

Ref Sequence

ENSEMBL: ENSMUSP00000131485 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000114776] [ENSMUST00000114777] [ENSMUST00000168882]

AlphaFold

Q8C5D8

Predicted Effect

probably damaging
Transcript: ENSMUST00000114776
AA Change: V335E

PolyPhen 2 Score 0.968 (Sensitivity: 0.77; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000110424
Gene: ENSMUSG00000025423
AA Change: V335E

Domain	Start	End	E-Value	Type
SAP	4	38	2.01e-5	SMART
low complexity region	95	110	N/A	INTRINSIC
Pfam:PINIT	134	290	7e-45	PFAM
Pfam:zf-MIZ	335	384	4.9e-24	PFAM
low complexity region	468	476	N/A	INTRINSIC
low complexity region	502	515	N/A	INTRINSIC

Predicted Effect

possibly damaging
Transcript: ENSMUST00000114777
AA Change: V342E

PolyPhen 2 Score 0.904 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000110425
Gene: ENSMUSG00000025423
AA Change: V342E

Domain	Start	End	E-Value	Type
SAP	11	45	2.01e-5	SMART
low complexity region	102	117	N/A	INTRINSIC
low complexity region	135	144	N/A	INTRINSIC
Pfam:PINIT	145	297	4.8e-38	PFAM
Pfam:zf-MIZ	342	391	1.7e-24	PFAM
low complexity region	475	483	N/A	INTRINSIC
low complexity region	509	522	N/A	INTRINSIC
low complexity region	571	610	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000168882
AA Change: V335E

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000131485
Gene: ENSMUSG00000025423
AA Change: V335E

Domain	Start	End	E-Value	Type
SAP	4	38	2.01e-5	SMART
low complexity region	95	110	N/A	INTRINSIC
Pfam:PINIT	134	290	2.3e-44	PFAM
Pfam:zf-MIZ	335	384	2.6e-23	PFAM
low complexity region	468	476	N/A	INTRINSIC
low complexity region	502	515	N/A	INTRINSIC
low complexity region	564	603	N/A	INTRINSIC

Coding Region Coverage

1x: 99.3%
3x: 98.6%
10x: 97.2%
20x: 94.9%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the protein inhibitor of activated STAT (PIAS) family. PIAS proteins function as SUMO E3 ligases and play important roles in many cellular processes by mediating the sumoylation of target proteins. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. Isoforms of the encoded protein enhance the sumoylation of specific target proteins including the p53 tumor suppressor protein, c-Jun, and the androgen receptor. A pseudogene of this gene is located on the short arm of chromosome 4. The symbol MIZ1 has also been associated with ZBTB17 which is a different gene located on chromosome 1. [provided by RefSeq, Aug 2011]
PHENOTYPE: An uncharacterized gene trap insertion does not result in an obvious phenotype although abnormalities are reported in the testes. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 74 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1810024B03Rik	A	G	2: 127,029,019 (GRCm39)	V60A	probably damaging	Het
AAdacl4fm3	A	G	4: 144,429,798 (GRCm39)	V397A	probably benign	Het
Afg3l1	A	G	8: 124,228,674 (GRCm39)	T747A	probably benign	Het
Aldh4a1	T	C	4: 139,370,740 (GRCm39)	S408P	probably damaging	Het
Ank2	T	C	3: 126,825,665 (GRCm39)	T445A	probably benign	Het
Antxrl	A	G	14: 33,797,792 (GRCm39)	E589G	possibly damaging	Het
Arhgef12	C	T	9: 42,921,489 (GRCm39)	G329R	probably benign	Het
Arsi	G	A	18: 61,049,723 (GRCm39)	G202E	probably benign	Het
AY358078	T	A	14: 52,063,532 (GRCm39)	C393S	possibly damaging	Het
Bpnt2	T	C	4: 4,767,878 (GRCm39)	I299M	probably damaging	Het
Brca2	T	A	5: 150,459,630 (GRCm39)	C302S	possibly damaging	Het
Ccdc169	T	A	3: 55,058,226 (GRCm39)	M4K	probably benign	Het
Ccdc66	T	C	14: 27,222,377 (GRCm39)	N122S	probably damaging	Het
Cd226	T	C	18: 89,225,343 (GRCm39)	V80A	probably damaging	Het
Cdc73	T	C	1: 143,553,595 (GRCm39)		probably null	Het
Cfap96	A	T	8: 46,423,505 (GRCm39)	I69N	probably damaging	Het
Cse1l	T	C	2: 166,786,452 (GRCm39)	V604A	probably benign	Het
Cxcr1	G	C	1: 74,231,896 (GRCm39)	T42S	probably benign	Het
Dhx9	TCC	TC	1: 153,342,797 (GRCm39)		probably null	Het
Ercc3	G	A	18: 32,378,624 (GRCm39)	A202T	probably benign	Het
Erp27	A	G	6: 136,896,947 (GRCm39)	V85A	probably damaging	Het
Fam3d	T	A	14: 8,358,429 (GRCm38)	S57C	probably damaging	Het
Fgf8	T	G	19: 45,726,592 (GRCm39)	I137L	probably benign	Het
Fgfrl1	T	A	5: 108,851,401 (GRCm39)	V106D	probably damaging	Het
Gaa	T	C	11: 119,169,784 (GRCm39)	W613R	probably damaging	Het
Gabarap	A	G	11: 69,885,287 (GRCm39)	N66S	probably benign	Het
Gp1bb	A	T	16: 18,439,893 (GRCm39)	L67Q	probably damaging	Het
Gpn1	T	C	5: 31,654,696 (GRCm39)		probably null	Het
Gstt1	T	C	10: 75,629,969 (GRCm39)	Y48C	probably damaging	Het
Iqcg	C	T	16: 32,861,134 (GRCm39)	R194K	probably null	Het
Iqcg	C	G	16: 32,861,133 (GRCm39)		probably null	Het
Kcnj3	C	T	2: 55,336,991 (GRCm39)	R286*	probably null	Het
Klhl38	T	A	15: 58,186,616 (GRCm39)	I38F	possibly damaging	Het
Kmo	C	A	1: 175,479,208 (GRCm39)	P248Q	probably benign	Het
Mbtps1	A	T	8: 120,262,086 (GRCm39)	D354E	probably damaging	Het
Mcpt9	C	T	14: 56,266,049 (GRCm39)	V60M	probably damaging	Het
Mical3	C	A	6: 120,911,799 (GRCm39)	E1083*	probably null	Het
Mprip	T	C	11: 59,622,399 (GRCm39)	V162A	probably damaging	Het
Mrc2	G	A	11: 105,239,257 (GRCm39)		probably null	Het
Myocd	T	C	11: 65,078,571 (GRCm39)	D408G	possibly damaging	Het
Myt1l	A	G	12: 29,892,539 (GRCm39)	T59A	probably benign	Het
Ndufb7	A	G	8: 84,293,494 (GRCm39)	E16G	probably damaging	Het
Ndufs7	T	A	10: 80,092,501 (GRCm39)	Y203*	probably null	Het
Nploc4	C	T	11: 120,276,613 (GRCm39)	V478I	probably benign	Het
Nrap	A	G	19: 56,323,456 (GRCm39)		probably null	Het
Or5e1	A	T	7: 108,354,834 (GRCm39)	Y257F	probably damaging	Het
Or6c207	G	A	10: 129,104,274 (GRCm39)	A306V	probably benign	Het
Pald1	T	C	10: 61,184,395 (GRCm39)	T241A	probably benign	Het
Pdss2	T	C	10: 43,248,197 (GRCm39)	S234P	probably damaging	Het
Ppip5k2	C	A	1: 97,682,861 (GRCm39)	K187N	probably damaging	Het
Ppp3cb	T	C	14: 20,570,714 (GRCm39)	N339S	possibly damaging	Het
Ppp4r1	T	G	17: 66,120,459 (GRCm39)	C181G	probably damaging	Het
Pramel27	T	A	4: 143,579,451 (GRCm39)	H345Q	probably benign	Het
Prkdc	G	A	16: 15,628,688 (GRCm39)	E3478K	probably damaging	Het
Prpf4b	T	C	13: 35,072,147 (GRCm39)		probably benign	Het
Psme3	T	A	11: 101,208,435 (GRCm39)		probably null	Het
Ptpre	C	A	7: 135,269,372 (GRCm39)	Y284*	probably null	Het
Scnn1a	A	G	6: 125,299,123 (GRCm39)	I94V	probably damaging	Het
Secisbp2l	C	T	2: 125,582,657 (GRCm39)	G933D	possibly damaging	Het
Shc2	T	C	10: 79,459,690 (GRCm39)	D418G	probably benign	Het
Sidt1	A	T	16: 44,075,389 (GRCm39)	D661E	probably damaging	Het
Slc35e2	T	C	4: 155,702,106 (GRCm39)	F290S	probably benign	Het
Sorcs1	A	G	19: 50,301,402 (GRCm39)		probably null	Het
Stox2	A	G	8: 47,645,970 (GRCm39)	S497P	probably damaging	Het
Tmem270	C	A	5: 134,930,482 (GRCm39)	E260*	probably null	Het
Tmtc2	T	C	10: 105,249,391 (GRCm39)	Y114C	probably benign	Het
Trim46	A	G	3: 89,150,958 (GRCm39)	F188S	probably benign	Het
Trim7	T	A	11: 48,728,355 (GRCm39)	M1K	probably null	Het
Txnip	A	G	3: 96,465,604 (GRCm39)	E18G	probably benign	Het
Usp34	A	G	11: 23,414,633 (GRCm39)	N2859D	probably damaging	Het
Vmn2r94	T	A	17: 18,477,647 (GRCm39)	I255F	probably benign	Het
Xkr5	T	A	8: 18,983,733 (GRCm39)	N603I	possibly damaging	Het
Zfp512	C	T	5: 31,637,570 (GRCm39)	A497V	probably benign	Het
Zfp518b	T	C	5: 38,830,970 (GRCm39)	N345S	probably damaging	Het

Other mutations in Pias2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00401:Pias2	APN	18	77,220,907 (GRCm39)	missense	probably damaging	1.00
IGL01105:Pias2	APN	18	77,220,852 (GRCm39)	missense	probably damaging	1.00
IGL02379:Pias2	APN	18	77,232,844 (GRCm39)	splice site	probably benign
IGL02932:Pias2	APN	18	77,232,799 (GRCm39)	missense	probably damaging	1.00
IGL03181:Pias2	APN	18	77,220,938 (GRCm39)	missense	possibly damaging	0.83
IGL03389:Pias2	APN	18	77,185,354 (GRCm39)	missense	probably damaging	1.00
IGL03138:Pias2	UTSW	18	77,237,796 (GRCm39)	critical splice donor site	probably null
R0492:Pias2	UTSW	18	77,193,581 (GRCm39)	missense	probably damaging	1.00
R0577:Pias2	UTSW	18	77,184,977 (GRCm39)	missense	probably damaging	1.00
R1660:Pias2	UTSW	18	77,207,825 (GRCm39)	missense	probably damaging	1.00
R1866:Pias2	UTSW	18	77,240,412 (GRCm39)	missense	probably benign	0.03
R1901:Pias2	UTSW	18	77,185,139 (GRCm39)	nonsense	probably null
R1996:Pias2	UTSW	18	77,216,759 (GRCm39)	critical splice donor site	probably null
R2107:Pias2	UTSW	18	77,185,167 (GRCm39)	missense	probably benign	0.35
R4439:Pias2	UTSW	18	77,185,399 (GRCm39)	missense	probably damaging	1.00
R4747:Pias2	UTSW	18	77,240,488 (GRCm39)	makesense	probably null
R4816:Pias2	UTSW	18	77,193,587 (GRCm39)	critical splice donor site	probably null
R5697:Pias2	UTSW	18	77,220,884 (GRCm39)	missense	probably damaging	1.00
R6265:Pias2	UTSW	18	77,184,954 (GRCm39)	missense	probably damaging	1.00
R6375:Pias2	UTSW	18	77,240,366 (GRCm39)	missense	possibly damaging	0.96
R6545:Pias2	UTSW	18	77,217,781 (GRCm39)	missense	possibly damaging	0.61
R6713:Pias2	UTSW	18	77,153,416 (GRCm39)	splice site	probably null
R7193:Pias2	UTSW	18	77,207,817 (GRCm39)	missense	possibly damaging	0.76
R7232:Pias2	UTSW	18	77,220,931 (GRCm39)	missense	probably benign	0.02
R7253:Pias2	UTSW	18	77,207,811 (GRCm39)	missense	probably damaging	0.97
R7259:Pias2	UTSW	18	77,240,416 (GRCm39)	missense	possibly damaging	0.73
R8018:Pias2	UTSW	18	77,216,654 (GRCm39)	missense	probably benign	0.00
R8534:Pias2	UTSW	18	77,185,083 (GRCm39)	missense	possibly damaging	0.68
R8879:Pias2	UTSW	18	77,234,464 (GRCm39)	nonsense	probably null
R9215:Pias2	UTSW	18	77,216,677 (GRCm39)	missense	probably damaging	1.00
X0009:Pias2	UTSW	18	77,232,793 (GRCm39)	missense	probably damaging	0.97

Predicted Primers

PCR Primer
(F):5'- ATGCAGAGTTTGTTTGTTGATAATTC -3'
(R):5'- TCTGAGCCTAAGGTTTTGTACTCTT -3'

Sequencing Primer
(F):5'- ACTATTCAGAGGAGGAACTT -3'
(R):5'- GCTGGTCCACAAAGCATGTTC -3'

Posted On

2015-09-25