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

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

MMRRC Submission

068747-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R8879 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

77152904-77241496 bp(+) (GRCm39)

Type of Mutation

nonsense

DNA Base Change (assembly)

C to T at 77234464 bp (GRCm39)

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: 57,885,905 (GRCm39)	V326M	probably damaging	Het
Adap2	T	A	11: 80,047,785 (GRCm39)	H80Q	probably benign	Het
Ang4	T	C	14: 52,001,943 (GRCm39)	T2A	probably benign	Het
Arf2	T	C	11: 103,870,585 (GRCm39)		probably null	Het
B3gnt4	A	G	5: 123,649,211 (GRCm39)	D192G	probably damaging	Het
BC034090	T	C	1: 155,102,103 (GRCm39)	I54V	probably benign	Het
Catsper3	A	G	13: 55,952,708 (GRCm39)	T202A	probably benign	Het
Cenpe	T	A	3: 134,965,862 (GRCm39)	D2113E	probably damaging	Het
Clasp2	T	C	9: 113,602,773 (GRCm39)	V191A	probably benign	Het
Col5a1	G	T	2: 27,904,170 (GRCm39)	A1356S	unknown	Het
Cuzd1	A	G	7: 130,910,577 (GRCm39)	S573P	probably damaging	Het
Cyp1a2	C	A	9: 57,589,168 (GRCm39)	M215I	possibly damaging	Het
Dcaf17	T	A	2: 70,893,746 (GRCm39)	I122K	possibly damaging	Het
Dhcr24	A	G	4: 106,431,006 (GRCm39)	I232V	probably benign	Het
Dnah10	A	G	5: 124,895,181 (GRCm39)	E3570G	probably damaging	Het
Dnaja4	A	T	9: 54,621,988 (GRCm39)		probably benign	Het
Efcab3	T	C	11: 104,581,781 (GRCm39)	I41T	probably benign	Het
Ehd1	A	G	19: 6,348,354 (GRCm39)	D444G	probably damaging	Het
Ehmt1	T	A	2: 24,726,488 (GRCm39)	M766L	possibly damaging	Het
Eno4	A	G	19: 58,959,154 (GRCm39)	I613M	probably benign	Het
Exoc3l	A	T	8: 106,017,181 (GRCm39)	M602K		Het
Fam107a	C	T	14: 8,301,352 (GRCm38)		probably null	Het
Frem3	A	T	8: 81,339,777 (GRCm39)	D690V	probably damaging	Het
Gm19410	A	T	8: 36,239,022 (GRCm39)	D97V	probably damaging	Het
Grik5	T	A	7: 24,722,489 (GRCm39)	D540V	possibly damaging	Het
Hint1	T	A	11: 54,760,769 (GRCm39)	D69E	probably benign	Het
Krt13	T	C	11: 100,010,211 (GRCm39)	T257A	probably benign	Het
Lpin2	T	C	17: 71,549,749 (GRCm39)	L676P	probably damaging	Het
Lrguk	A	G	6: 34,006,618 (GRCm39)	E76G	probably benign	Het
Lrrc8a	A	G	2: 30,146,310 (GRCm39)	M375V	probably benign	Het
Lrrtm3	T	C	10: 63,925,017 (GRCm39)	Q50R	possibly damaging	Het
Mmrn1	T	A	6: 60,953,513 (GRCm39)	L598Q	probably damaging	Het
Mrs2	A	G	13: 25,185,767 (GRCm39)	I135T	probably damaging	Het
Neb	T	C	2: 52,125,592 (GRCm39)	D475G		Het
Notch2	A	G	3: 98,042,915 (GRCm39)	S1427G	possibly damaging	Het
Odad4	G	T	11: 100,457,752 (GRCm39)	E452*	probably null	Het
Opcml	T	C	9: 28,813,447 (GRCm39)	F246S	probably damaging	Het
Or10al2	C	A	17: 37,983,302 (GRCm39)	Y129*	probably null	Het
Or2ag1b	A	T	7: 106,288,296 (GRCm39)	I214N	probably damaging	Het
Or56a42-ps1	A	G	7: 104,775,893 (GRCm39)	V195A	probably benign	Het
Or6c69	A	G	10: 129,747,731 (GRCm39)	C139R	probably damaging	Het
Or8g33	A	C	9: 39,337,515 (GRCm39)	V284G	possibly damaging	Het
Pdzd2	C	A	15: 12,402,405 (GRCm39)	V729F	probably damaging	Het
Pnp	T	A	14: 51,188,177 (GRCm39)		probably null	Het
Ptpn18	T	C	1: 34,502,211 (GRCm39)	S76P	probably benign	Het
Qtrt2	A	T	16: 43,683,560 (GRCm39)	L304Q	probably damaging	Het
Rad51ap2	A	T	12: 11,507,401 (GRCm39)	E441V	possibly damaging	Het
Ranbp2	T	A	10: 58,313,711 (GRCm39)	V1477E	probably benign	Het
Repin1	C	T	6: 48,574,367 (GRCm39)	T432I	possibly damaging	Het
Rest	G	A	5: 77,430,358 (GRCm39)	G926R	probably benign	Het
Rnft1	T	A	11: 86,377,516 (GRCm39)	F143L	possibly damaging	Het
Sema3e	A	T	5: 14,282,108 (GRCm39)	I415L	probably benign	Het
Slc10a1	T	A	12: 81,014,369 (GRCm39)	N117I	probably damaging	Het
Slc25a23	G	A	17: 57,366,709 (GRCm39)		probably benign	Het
Slc2a2	T	C	3: 28,767,951 (GRCm39)	S160P	possibly damaging	Het
Srrd	A	G	5: 112,486,322 (GRCm39)	V178A	possibly damaging	Het
Tmigd3	G	T	3: 105,829,277 (GRCm39)	G198C	probably benign	Het
Trbv28	G	A	6: 41,248,339 (GRCm39)	M1I	probably null	Het
Tril	A	G	6: 53,796,569 (GRCm39)	S218P	probably damaging	Het
Trip11	T	C	12: 101,828,857 (GRCm39)	K1749R	probably benign	Het
Ttn	A	G	2: 76,660,995 (GRCm39)	V12011A		Het
Ubr4	T	G	4: 139,137,829 (GRCm39)	F1093V	probably benign	Het
Urb2	C	A	8: 124,755,142 (GRCm39)	A283E	probably benign	Het
Usp43	T	A	11: 67,789,707 (GRCm39)		probably benign	Het
Vmn1r28	A	T	6: 58,242,669 (GRCm39)	I171F	probably benign	Het
Vps33a	G	A	5: 123,671,962 (GRCm39)	R469W	probably damaging	Het
Zfp202	G	A	9: 40,123,053 (GRCm39)	R605Q	probably damaging	Het
Zpbp2	A	T	11: 98,445,446 (GRCm39)	H158L	probably benign	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
R4603:Pias2	UTSW	18	77,217,803 (GRCm39)	missense	probably damaging	0.99
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
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'- GAGCAGAGACAGTTACTCTCAG -3'
(R):5'- GATGCTCTGTTAATAAACTGGACTC -3'

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

Posted On

2021-07-15