Mutagenetix > Incidental Mutation

Incidental Mutation 'R8879:Pias2'

676802

Institutional Source

Beutler Lab

Gene Symbol

Pias2

Ensembl Gene

ENSMUSG00000025423

Gene Name

protein inhibitor of activated STAT 2

Synonyms

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

MMRRC Submission

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R8879 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

77065208-77155708 bp(+) (GRCm38)

Type of Mutation

nonsense

DNA Base Change (assembly)

C to T at 77146768 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Glutamine to Stop codon at position 565 (Q565*)

Ref Sequence

ENSEMBL: ENSMUSP00000110424 (fasta)

Gene Model

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

AlphaFold

Q8C5D8

Predicted Effect

probably null
Transcript: ENSMUST00000114776
AA Change: Q565*

SMART Domains

Protein: ENSMUSP00000110424
Gene: ENSMUSG00000025423
AA Change: Q565*

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

probably benign
Transcript: ENSMUST00000114777

SMART Domains

Protein: ENSMUSP00000110425
Gene: ENSMUSG00000025423

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 benign
Transcript: ENSMUST00000168882

SMART Domains

Protein: ENSMUSP00000131485
Gene: ENSMUSG00000025423

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: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.0%

Validation Efficiency

100% (69/69)

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: 68 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
9130401M01Rik	C	T	15: 58,022,509	V326M	probably damaging	Het
Adap2	T	A	11: 80,156,959	H80Q	probably benign	Het
Ang4	T	C	14: 51,764,486	T2A	probably benign	Het
Arf2	T	C	11: 103,979,759		probably null	Het
B3gnt4	A	G	5: 123,511,148	D192G	probably damaging	Het
BC034090	T	C	1: 155,226,357	I54V	probably benign	Het
Catsper3	A	G	13: 55,804,895	T202A	probably benign	Het
Cenpe	T	A	3: 135,260,101	D2113E	probably damaging	Het
Clasp2	T	C	9: 113,773,705	V191A	probably benign	Het
Col5a1	G	T	2: 28,014,158	A1356S	unknown	Het
Cuzd1	A	G	7: 131,308,848	S573P	probably damaging	Het
Cyp1a2	C	A	9: 57,681,885	M215I	possibly damaging	Het
Dcaf17	T	A	2: 71,063,402	I122K	possibly damaging	Het
Dhcr24	A	G	4: 106,573,809	I232V	probably benign	Het
Dnah10	A	G	5: 124,818,117	E3570G	probably damaging	Het
Dnaja4	A	T	9: 54,714,704		probably benign	Het
Ehd1	A	G	19: 6,298,324	D444G	probably damaging	Het
Ehmt1	T	A	2: 24,836,476	M766L	possibly damaging	Het
Eno4	A	G	19: 58,970,722	I613M	probably benign	Het
Exoc3l	A	T	8: 105,290,549	M602K		Het
Fam107a	C	T	14: 8,301,352		probably null	Het
Frem3	A	T	8: 80,613,148	D690V	probably damaging	Het
Gm11639	T	C	11: 104,690,955	I41T	probably benign	Het
Gm19410	A	T	8: 35,771,868	D97V	probably damaging	Het
Grik5	T	A	7: 25,023,064	D540V	possibly damaging	Het
Hint1	T	A	11: 54,869,943	D69E	probably benign	Het
Krt13	T	C	11: 100,119,385	T257A	probably benign	Het
Lpin2	T	C	17: 71,242,754	L676P	probably damaging	Het
Lrguk	A	G	6: 34,029,683	E76G	probably benign	Het
Lrrc8a	A	G	2: 30,256,298	M375V	probably benign	Het
Lrrtm3	T	C	10: 64,089,238	Q50R	possibly damaging	Het
Mmrn1	T	A	6: 60,976,529	L598Q	probably damaging	Het
Mrs2	A	G	13: 25,001,784	I135T	probably damaging	Het
Neb	T	C	2: 52,235,580	D475G		Het
Notch2	A	G	3: 98,135,599	S1427G	possibly damaging	Het
Olfr118	C	A	17: 37,672,411	Y129*	probably null	Het
Olfr682-ps1	A	G	7: 105,126,686	V195A	probably benign	Het
Olfr694	A	T	7: 106,689,089	I214N	probably damaging	Het
Olfr816	A	G	10: 129,911,862	C139R	probably damaging	Het
Olfr952	A	C	9: 39,426,219	V284G	possibly damaging	Het
Opcml	T	C	9: 28,902,151	F246S	probably damaging	Het
Pdzd2	C	A	15: 12,402,319	V729F	probably damaging	Het
Pnp	T	A	14: 50,950,720		probably null	Het
Ptpn18	T	C	1: 34,463,130	S76P	probably benign	Het
Qtrt2	A	T	16: 43,863,197	L304Q	probably damaging	Het
Rad51ap2	A	T	12: 11,457,400	E441V	possibly damaging	Het
Ranbp2	T	A	10: 58,477,889	V1477E	probably benign	Het
Repin1	C	T	6: 48,597,433	T432I	possibly damaging	Het
Rest	G	A	5: 77,282,511	G926R	probably benign	Het
Rnft1	T	A	11: 86,486,690	F143L	possibly damaging	Het
Sema3e	A	T	5: 14,232,094	I415L	probably benign	Het
Slc10a1	T	A	12: 80,967,595	N117I	probably damaging	Het
Slc25a23	G	A	17: 57,059,709		probably benign	Het
Slc2a2	T	C	3: 28,713,802	S160P	possibly damaging	Het
Srrd	A	G	5: 112,338,456	V178A	possibly damaging	Het
Tmigd3	G	T	3: 105,921,961	G198C	probably benign	Het
Trbv29	G	A	6: 41,271,405	M1I	probably null	Het
Tril	A	G	6: 53,819,584	S218P	probably damaging	Het
Trip11	T	C	12: 101,862,598	K1749R	probably benign	Het
Ttc25	G	T	11: 100,566,926	E452*	probably null	Het
Ttn	A	G	2: 76,830,651	V12011A		Het
Ubr4	T	G	4: 139,410,518	F1093V	probably benign	Het
Urb2	C	A	8: 124,028,403	A283E	probably benign	Het
Usp43	T	A	11: 67,898,881		probably benign	Het
Vmn1r28	A	T	6: 58,265,684	I171F	probably benign	Het
Vps33a	G	A	5: 123,533,899	R469W	probably damaging	Het
Zfp202	G	A	9: 40,211,757	R605Q	probably damaging	Het
Zpbp2	A	T	11: 98,554,620	H158L	probably benign	Het

Other mutations in Pias2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00401:Pias2	APN	18	77133211	missense	probably damaging	1.00
IGL01105:Pias2	APN	18	77133156	missense	probably damaging	1.00
IGL02379:Pias2	APN	18	77145148	splice site	probably benign
IGL02932:Pias2	APN	18	77145103	missense	probably damaging	1.00
IGL03181:Pias2	APN	18	77133242	missense	possibly damaging	0.83
IGL03389:Pias2	APN	18	77097658	missense	probably damaging	1.00
IGL03138:Pias2	UTSW	18	77150100	critical splice donor site	probably null
R0492:Pias2	UTSW	18	77105885	missense	probably damaging	1.00
R0577:Pias2	UTSW	18	77097281	missense	probably damaging	1.00
R1660:Pias2	UTSW	18	77120129	missense	probably damaging	1.00
R1866:Pias2	UTSW	18	77152716	missense	probably benign	0.03
R1901:Pias2	UTSW	18	77097443	nonsense	probably null
R1996:Pias2	UTSW	18	77129063	critical splice donor site	probably null
R2107:Pias2	UTSW	18	77097471	missense	probably benign	0.35
R4439:Pias2	UTSW	18	77097703	missense	probably damaging	1.00
R4603:Pias2	UTSW	18	77130107	missense	probably damaging	0.99
R4747:Pias2	UTSW	18	77152792	makesense	probably null
R4816:Pias2	UTSW	18	77105891	critical splice donor site	probably null
R5697:Pias2	UTSW	18	77133188	missense	probably damaging	1.00
R6265:Pias2	UTSW	18	77097258	missense	probably damaging	1.00
R6375:Pias2	UTSW	18	77152670	missense	possibly damaging	0.96
R6545:Pias2	UTSW	18	77130085	missense	possibly damaging	0.61
R6713:Pias2	UTSW	18	77065720	splice site	probably null
R7193:Pias2	UTSW	18	77120121	missense	possibly damaging	0.76
R7232:Pias2	UTSW	18	77133235	missense	probably benign	0.02
R7253:Pias2	UTSW	18	77120115	missense	probably damaging	0.97
R7259:Pias2	UTSW	18	77152720	missense	possibly damaging	0.73
R8018:Pias2	UTSW	18	77128958	missense	probably benign	0.00
R8534:Pias2	UTSW	18	77097387	missense	possibly damaging	0.68
R9215:Pias2	UTSW	18	77128981	missense	probably damaging	1.00
X0009:Pias2	UTSW	18	77145097	missense	probably damaging	0.97

Predicted Primers

PCR Primer
(F):5'- GAGCAGAGACAGTTACTCTCAG -3'
(R):5'- GATGCTCTGTTAATAAACTGGACTC -3'

Sequencing Primer
(F):5'- AAGTAGTCATAATGTGCAGTTTTGG -3'
(R):5'- ACTTGAGTCATAAACTTCACAAAGC -3'

Posted On

2021-07-15