Mutagenetix > Incidental Mutation

Incidental Mutation 'R7232:Pias2'

562594

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

045303-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R7232 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

77152904-77241496 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 77220931 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Glycine at position 396 (S396G)

Ref Sequence

ENSEMBL: ENSMUSP00000110425 (fasta)

Gene Model

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

AlphaFold

Q8C5D8

Predicted Effect

probably benign
Transcript: ENSMUST00000114776
AA Change: S389G

PolyPhen 2 Score 0.050 (Sensitivity: 0.94; Specificity: 0.83)

SMART Domains

Protein: ENSMUSP00000110424
Gene: ENSMUSG00000025423
AA Change: S389G

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
AA Change: S396G

PolyPhen 2 Score 0.016 (Sensitivity: 0.95; Specificity: 0.79)

SMART Domains

Protein: ENSMUSP00000110425
Gene: ENSMUSG00000025423
AA Change: S396G

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
AA Change: S389G

PolyPhen 2 Score 0.185 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000131485
Gene: ENSMUSG00000025423
AA Change: S389G

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: 99.6%
20x: 98.7%

Validation Efficiency

99% (80/81)

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: 79 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930433I11Rik	G	A	7: 40,642,603 (GRCm39)	G91S	probably damaging	Het
Adam21	T	G	12: 81,607,330 (GRCm39)	N144T	probably damaging	Het
Adgrg7	T	C	16: 56,597,515 (GRCm39)		probably null	Het
Angpt4	T	C	2: 151,771,460 (GRCm39)	S259P	possibly damaging	Het
Aqr	A	C	2: 113,936,363 (GRCm39)	L1320R	probably damaging	Het
Arhgef10	G	A	8: 14,990,323 (GRCm39)	G266D	probably benign	Het
Bop1	A	G	15: 76,337,546 (GRCm39)	V693A	probably damaging	Het
Cd86	CA	CAA	16: 36,426,917 (GRCm39)		probably null	Het
Cdc5l	A	G	17: 45,738,863 (GRCm39)		probably null	Het
Cfap46	C	A	7: 139,197,493 (GRCm39)	R2126L	unknown	Het
Chek2	T	C	5: 111,008,781 (GRCm39)	V304A	probably damaging	Het
Cntnap4	T	A	8: 113,391,731 (GRCm39)		probably null	Het
Ctps1	C	A	4: 120,405,321 (GRCm39)	G374C	probably damaging	Het
Defa27	A	T	8: 21,805,625 (GRCm39)	I22F	probably damaging	Het
Dnah14	T	C	1: 181,584,928 (GRCm39)	S3220P	probably damaging	Het
Dop1b	T	G	16: 93,557,373 (GRCm39)		probably null	Het
Dpysl5	G	A	5: 30,949,642 (GRCm39)	V471I	probably benign	Het
Duoxa1	T	A	2: 122,135,728 (GRCm39)	I124F	probably damaging	Het
Eif4enif1	A	G	11: 3,165,678 (GRCm39)	E85G	possibly damaging	Het
Eogt	T	A	6: 97,096,944 (GRCm39)	I355F	probably damaging	Het
Epha7	T	A	4: 28,951,279 (GRCm39)	V800E	probably damaging	Het
Evi5l	A	G	8: 4,255,906 (GRCm39)	Q633R	possibly damaging	Het
Fam170a	T	C	18: 50,414,728 (GRCm39)	Y125H	probably damaging	Het
Fbxo15	T	C	18: 84,980,747 (GRCm39)	Y241H	probably damaging	Het
Gbe1	T	C	16: 70,233,828 (GRCm39)	I235T	possibly damaging	Het
Gfra3	C	T	18: 34,844,234 (GRCm39)	R102Q	probably damaging	Het
Gjd4	C	T	18: 9,280,380 (GRCm39)	G233S	probably damaging	Het
Gm29106	C	T	1: 118,127,291 (GRCm39)	P328S	probably damaging	Het
Hgfac	G	T	5: 35,204,258 (GRCm39)	R507L	probably damaging	Het
Jakmip3	A	G	7: 138,609,355 (GRCm39)	K153R	probably benign	Het
Kcnc1	T	A	7: 46,077,383 (GRCm39)	V395E	probably damaging	Het
Krt6b	T	C	15: 101,586,577 (GRCm39)	D304G	probably damaging	Het
Ldha	T	C	7: 46,500,323 (GRCm39)	Y174H	probably benign	Het
Lgi4	G	A	7: 30,766,776 (GRCm39)	V268M	possibly damaging	Het
Lpar3	T	G	3: 145,947,061 (GRCm39)		probably null	Het
Lrp3	T	C	7: 34,905,477 (GRCm39)	D103G	probably damaging	Het
Marchf5	G	A	19: 37,194,713 (GRCm39)		probably null	Het
Muc5b	A	T	7: 141,419,866 (GRCm39)	H4115L	possibly damaging	Het
Myh13	G	A	11: 67,239,672 (GRCm39)	D741N	probably damaging	Het
Naglu	A	T	11: 100,967,252 (GRCm39)	I401F	probably damaging	Het
Ncam2	T	A	16: 81,309,759 (GRCm39)	N416K	probably damaging	Het
Ncan	A	G	8: 70,564,738 (GRCm39)	L292S	probably damaging	Het
Nkiras1	T	C	14: 18,276,732 (GRCm38)	V7A	probably damaging	Het
Nlrp4c	T	A	7: 6,068,708 (GRCm39)	L203*	probably null	Het
Nscme3l	A	T	19: 5,553,659 (GRCm39)	S41T	possibly damaging	Het
Onecut2	T	A	18: 64,474,633 (GRCm39)	W395R	probably damaging	Het
Or10a2	T	A	7: 106,673,062 (GRCm39)	I9K	probably benign	Het
Pak6	T	A	2: 118,524,003 (GRCm39)	V386E	probably damaging	Het
Plxna2	T	A	1: 194,394,568 (GRCm39)	L483H	probably damaging	Het
Prss36	G	T	7: 127,534,763 (GRCm39)	R484S	probably benign	Het
Ptpn21	A	T	12: 98,654,996 (GRCm39)	V657E	probably benign	Het
Rassf2	T	C	2: 131,838,332 (GRCm39)	E318G	probably damaging	Het
Rp1	A	C	1: 4,298,824 (GRCm39)	S623A	unknown	Het
Runx2	G	A	17: 45,125,079 (GRCm39)	P80L	probably damaging	Het
Scn11a	T	A	9: 119,588,982 (GRCm39)	E1308V	probably damaging	Het
Serpina3c	A	T	12: 104,115,771 (GRCm39)	S258T	possibly damaging	Het
Slit3	A	G	11: 35,501,516 (GRCm39)	T417A	possibly damaging	Het
Sostdc1	C	A	12: 36,367,310 (GRCm39)	A162E	possibly damaging	Het
Sox13	A	T	1: 133,312,129 (GRCm39)		probably null	Het
Sox8	G	T	17: 25,786,514 (GRCm39)	S396R	probably benign	Het
Sult2a3	A	T	7: 13,816,685 (GRCm39)	F164L	possibly damaging	Het
Susd2	T	C	10: 75,475,685 (GRCm39)	Y438C	probably damaging	Het
Tas2r106	T	G	6: 131,655,810 (GRCm39)	T14P	probably damaging	Het
Tcf25	T	A	8: 124,127,800 (GRCm39)		probably null	Het
Tenm3	G	A	8: 48,688,970 (GRCm39)	R2206W	probably damaging	Het
Tep1	A	G	14: 51,081,789 (GRCm39)	L471P	unknown	Het
Ticrr	A	T	7: 79,343,490 (GRCm39)	K1118N	probably damaging	Het
Tlr5	G	A	1: 182,801,064 (GRCm39)	E123K	probably benign	Het
Ttn	ATATCTCTCCAGAGCCTCCCCTGGAGGAGTGGAGTATCTCTCCAGAGCCTCCCCTGGAGGAGTGGAGTATCTCTCCAGAGCCTCCCCTG	ATATCTCTCCAGAGCCTCCCCTGGAGGAGTGGAGTATCTCTCCAGAGCCTCCCCTG	2: 76,746,150 (GRCm39)		probably benign	Het
U2surp	A	G	9: 95,375,770 (GRCm39)	V141A	probably benign	Het
Unc79	T	A	12: 103,100,734 (GRCm39)	S2050T	possibly damaging	Het
Usp13	A	G	3: 32,920,020 (GRCm39)	D235G	probably benign	Het
Vcam1	T	C	3: 115,919,628 (GRCm39)	T213A	possibly damaging	Het
Vmn2r60	T	A	7: 41,786,166 (GRCm39)	I323N	possibly damaging	Het
Vps13b	A	G	15: 35,877,703 (GRCm39)	I2892M	probably damaging	Het
Wnt5a	T	A	14: 28,240,329 (GRCm39)	S160T	probably benign	Het
Zar1	G	A	5: 72,738,294 (GRCm39)	P36L	possibly damaging	Het
Zfp773	A	T	7: 7,135,984 (GRCm39)	M204K	probably benign	Het
Zhx1	T	C	15: 57,916,465 (GRCm39)	T594A	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
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'- GAACTCATTGCTGCTGTATTCTCTG -3'
(R):5'- CAGCTTCAAACTTAGCACCTATG -3'

Sequencing Primer
(F):5'- TGTTCTGTAGTTAGGAAAAATGAGGC -3'
(R):5'- GTAGGGTCTCACTATATACTACACAC -3'

Posted On

2019-06-26