Mutagenetix > Incidental Mutation

Incidental Mutation 'R9215:Pias2'

699166

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

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R9215 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

77152904-77241496 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 77216677 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Glutamic Acid at position 296 (V296E)

Ref Sequence

ENSEMBL: ENSMUSP00000110425 (fasta)

Gene Model

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

AlphaFold

Q8C5D8

Predicted Effect

probably damaging
Transcript: ENSMUST00000114776
AA Change: V289E

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000110424
Gene: ENSMUSG00000025423
AA Change: V289E

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 damaging
Transcript: ENSMUST00000114777
AA Change: V296E

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000110425
Gene: ENSMUSG00000025423
AA Change: V296E

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: V289E

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000131485
Gene: ENSMUSG00000025423
AA Change: V289E

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: 100.0%
10x: 99.8%
20x: 99.3%

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: 69 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Amigo3	G	A	9: 107,931,638 (GRCm39)	A354T	probably damaging	Het
Ano1	A	G	7: 144,149,342 (GRCm39)	S840P	probably damaging	Het
Arap1	A	G	7: 101,049,214 (GRCm39)	Q923R	probably benign	Het
Blk	T	C	14: 63,610,999 (GRCm39)	M448V	probably damaging	Het
Calhm2	C	A	19: 47,121,305 (GRCm39)	R288L	possibly damaging	Het
Card11	A	T	5: 140,866,154 (GRCm39)	M913K	possibly damaging	Het
Carf	A	C	1: 60,189,804 (GRCm39)	E676D	possibly damaging	Het
Ccn5	T	A	2: 163,670,966 (GRCm39)	C158S	probably damaging	Het
Ccr2	A	G	9: 123,906,023 (GRCm39)	D101G	probably damaging	Het
Ckap2l	T	C	2: 129,123,826 (GRCm39)	R532G	possibly damaging	Het
Clec1a	T	C	6: 129,412,134 (GRCm39)	T112A	possibly damaging	Het
Clint1	T	C	11: 45,774,578 (GRCm39)	V28A	probably damaging	Het
Col13a1	C	A	10: 61,685,990 (GRCm39)		probably null	Het
Cryz	G	T	3: 154,324,446 (GRCm39)	V216F	probably benign	Het
Cyp1a1	G	A	9: 57,609,456 (GRCm39)	V386I	probably benign	Het
Cyp2c54	G	A	19: 40,035,950 (GRCm39)	T320I	possibly damaging	Het
Dock7	G	C	4: 98,859,088 (GRCm39)	N1431K	unknown	Het
Fam110c	G	T	12: 31,123,863 (GRCm39)		probably benign	Het
Fbn2	A	T	18: 58,209,747 (GRCm39)	C1045S	probably damaging	Het
Fbxo30	G	A	10: 11,167,243 (GRCm39)	R655H	probably damaging	Het
Fhip1b	A	G	7: 105,034,296 (GRCm39)	L445P	possibly damaging	Het
Gbp2	T	C	3: 142,338,036 (GRCm39)		probably null	Het
Hmgcll1	A	G	9: 75,982,083 (GRCm39)	D176G	probably benign	Het
Inafm1	A	T	7: 16,007,055 (GRCm39)	I54N	probably damaging	Het
Ipo9	C	G	1: 135,347,033 (GRCm39)	M152I	probably benign	Het
Khdrbs3	C	T	15: 68,964,798 (GRCm39)	T333M	probably damaging	Het
Lefty2	A	G	1: 180,725,145 (GRCm39)	T292A	probably benign	Het
Lgr5	T	C	10: 115,311,085 (GRCm39)	E237G	probably damaging	Het
Lrig2	T	A	3: 104,398,324 (GRCm39)	E268D	probably benign	Het
Mbtd1	T	A	11: 93,834,628 (GRCm39)	L602Q	possibly damaging	Het
Mtbp	T	C	15: 55,484,035 (GRCm39)	V828A	possibly damaging	Het
Ncapd3	C	A	9: 26,975,386 (GRCm39)	Q812K	possibly damaging	Het
Nlrx1	T	C	9: 44,165,325 (GRCm39)	K857R	probably benign	Het
Or2b28	C	T	13: 21,532,004 (GRCm39)	A302V	probably damaging	Het
Or4d6	A	T	19: 12,086,016 (GRCm39)	M72K	probably damaging	Het
Or4k1	T	C	14: 50,377,829 (GRCm39)	Y89C	probably benign	Het
Or8b1c	C	T	9: 38,384,694 (GRCm39)	S217F	probably damaging	Het
P4ha2	T	C	11: 54,017,226 (GRCm39)	F456L	probably benign	Het
Pakap	T	A	4: 57,709,595 (GRCm39)	V180E	probably damaging	Het
Pard3b	A	G	1: 62,203,344 (GRCm39)	D424G	probably damaging	Het
Pecam1	A	G	11: 106,579,797 (GRCm39)	S422P	probably damaging	Het
Plekha5	T	A	6: 140,501,733 (GRCm39)	S640R	possibly damaging	Het
Prdx2	A	G	8: 85,697,932 (GRCm39)	K92E	possibly damaging	Het
Prl7c1	C	T	13: 27,960,204 (GRCm39)	E113K	probably benign	Het
Pxylp1	A	T	9: 96,707,111 (GRCm39)	V357D	possibly damaging	Het
Rbm12b2	T	C	4: 12,095,471 (GRCm39)	F777L	probably damaging	Het
Rbm4b	G	T	19: 4,812,268 (GRCm39)	V226F	possibly damaging	Het
Rel	T	C	11: 23,698,870 (GRCm39)	D139G	probably benign	Het
Rnf214	C	T	9: 45,816,129 (GRCm39)	D28N	probably benign	Het
Slc26a5	A	G	5: 22,042,285 (GRCm39)	S224P	possibly damaging	Het
Slc39a6	C	T	18: 24,732,323 (GRCm39)	A322T	probably benign	Het
Slc47a1	T	C	11: 61,262,647 (GRCm39)	I81V	probably benign	Het
Smad5	T	A	13: 56,880,815 (GRCm39)	C310S	probably damaging	Het
Sparcl1	T	C	5: 104,240,701 (GRCm39)	D241G	probably benign	Het
Spata16	C	T	3: 26,721,994 (GRCm39)	Q172*	probably null	Het
Spata31d1d	G	T	13: 59,875,823 (GRCm39)	Q571K	probably benign	Het
Speer1e	A	T	5: 11,236,449 (GRCm39)	I161F	possibly damaging	Het
Sspo	G	A	6: 48,440,869 (GRCm39)	R1777H	possibly damaging	Het
Stt3b	A	T	9: 115,085,223 (GRCm39)	F381I	probably damaging	Het
Tjp1	T	C	7: 64,962,595 (GRCm39)	Y1194C	probably benign	Het
Tmem132b	T	C	5: 125,864,180 (GRCm39)	I762T	probably damaging	Het
Tnxb	A	G	17: 34,891,564 (GRCm39)	T636A	unknown	Het
Trat1	T	A	16: 48,574,637 (GRCm39)	R54*	probably null	Het
Tubb4a	A	T	17: 57,387,769 (GRCm39)	V419E	probably damaging	Het
Txn2	A	T	15: 77,803,965 (GRCm39)	W84R	unknown	Het
Uggt2	A	G	14: 119,279,006 (GRCm39)	Y834H	probably damaging	Het
Upp2	T	C	2: 58,670,065 (GRCm39)	L257P	probably damaging	Het
Vmn2r67	C	T	7: 84,802,008 (GRCm39)	V98I	probably benign	Het
Zfp354c	T	C	11: 50,706,666 (GRCm39)	I136M	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
R8879:Pias2	UTSW	18	77,234,464 (GRCm39)	nonsense	probably null
X0009:Pias2	UTSW	18	77,232,793 (GRCm39)	missense	probably damaging	0.97

Predicted Primers

PCR Primer
(F):5'- AAGTGCTTAGTTGATGTCCCTG -3'
(R):5'- GGCAAAGTGTCTCCAATTTCTTC -3'

Sequencing Primer
(F):5'- AGTTGATGTCCCTGTCCATTTG -3'
(R):5'- AAAGTGTCTCCAATTTCTTCCACTAG -3'

Posted On

2022-02-07