Mutagenetix > Incidental Mutation

Incidental Mutation 'R6265:Pias2'

506981

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

044438-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R6265 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

77152904-77241496 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 77184954 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 5 (S5P)

Ref Sequence

ENSEMBL: ENSMUSP00000110424 (fasta)

Gene Model

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

AlphaFold

Q8C5D8

Predicted Effect

probably damaging
Transcript: ENSMUST00000114776
AA Change: S5P

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000110424
Gene: ENSMUSG00000025423
AA Change: S5P

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: S12P

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000110425
Gene: ENSMUSG00000025423
AA Change: S12P

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: S5P

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

SMART Domains

Protein: ENSMUSP00000131485
Gene: ENSMUSG00000025423
AA Change: S5P

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: 99.9%
3x: 99.7%
10x: 98.5%
20x: 95.9%

Validation Efficiency

100% (65/65)

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: 65 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700013G24Rik	C	T	4: 137,181,986 (GRCm39)	P47L	probably damaging	Het
Acot1	T	C	12: 84,063,687 (GRCm39)	I265T	probably benign	Het
Amotl1	T	C	9: 14,482,951 (GRCm39)	D587G	possibly damaging	Het
Anks1b	T	G	10: 90,777,362 (GRCm39)	D1117E	probably damaging	Het
Art4	T	G	6: 136,831,886 (GRCm39)	N85T	probably damaging	Het
Asb3	C	A	11: 31,035,143 (GRCm39)	Q462K	probably benign	Het
Atcay	C	T	10: 81,049,114 (GRCm39)	E163K	possibly damaging	Het
Atp6v0e	T	C	17: 26,895,507 (GRCm39)	V20A	possibly damaging	Het
Atp7b	G	A	8: 22,505,943 (GRCm39)	Q520*	probably null	Het
Baat	A	T	4: 49,502,836 (GRCm39)	D95E	possibly damaging	Het
Cars2	TCCCC	TCCC	8: 11,579,599 (GRCm39)		probably null	Het
Ccdc24	G	A	4: 117,728,374 (GRCm39)	Q47*	probably null	Het
Cep170b	C	A	12: 112,710,993 (GRCm39)	Q1488K	probably damaging	Het
Cldn24	A	C	8: 48,275,374 (GRCm39)	D66A	probably benign	Het
Cln5	C	A	14: 103,310,663 (GRCm39)	T110K	probably damaging	Het
Clvs2	C	A	10: 33,404,511 (GRCm39)	S235I	possibly damaging	Het
Col5a3	C	T	9: 20,705,060 (GRCm39)	G730R	unknown	Het
Crim1	C	T	17: 78,677,514 (GRCm39)	P905L	probably benign	Het
Cxxc4	T	C	3: 133,963,824 (GRCm39)	V356A	probably benign	Het
Dctn6	G	T	8: 34,562,057 (GRCm39)	N93K	probably damaging	Het
Dnah9	G	A	11: 66,058,920 (GRCm39)	A125V	probably benign	Het
Dnhd1	T	C	7: 105,342,577 (GRCm39)	I1307T	probably benign	Het
Dpy19l1	T	A	9: 24,343,667 (GRCm39)	I493F	possibly damaging	Het
Ebf2	A	G	14: 67,661,509 (GRCm39)	I546V	probably benign	Het
Fbll1	T	C	11: 35,688,636 (GRCm39)	E209G	probably damaging	Het
Foxj2	G	A	6: 122,805,133 (GRCm39)	A2T	probably damaging	Het
Foxs1	A	T	2: 152,774,098 (GRCm39)	C318*	probably null	Het
Gorab	T	C	1: 163,214,199 (GRCm39)	T244A	possibly damaging	Het
Gtsf1l	C	A	2: 162,929,583 (GRCm39)		probably benign	Het
Herc1	T	C	9: 66,279,298 (GRCm39)	S69P	probably benign	Het
Hpca	C	T	4: 129,012,445 (GRCm39)	W30*	probably null	Het
Ing3	C	A	6: 21,953,813 (GRCm39)	Q85K	probably damaging	Het
Klhdc8b	T	C	9: 108,325,624 (GRCm39)	E264G	probably damaging	Het
Lair1	T	A	7: 4,058,826 (GRCm39)		probably benign	Het
Lama1	T	C	17: 68,057,650 (GRCm39)	Y575H	probably damaging	Het
Lamtor2	C	A	3: 88,458,020 (GRCm39)	G29*	probably null	Het
Loxhd1	A	T	18: 77,449,426 (GRCm39)	D341V	probably damaging	Het
Lrp2	T	A	2: 69,296,684 (GRCm39)	D3290V	probably damaging	Het
Matn2	A	T	15: 34,399,301 (GRCm39)	D396V	probably damaging	Het
Me3	T	A	7: 89,498,951 (GRCm39)	D510E	probably benign	Het
Melk	A	G	4: 44,318,109 (GRCm39)	Y170C	probably damaging	Het
Mgat2	T	C	12: 69,231,567 (GRCm39)	V47A	probably benign	Het
Mindy4	T	C	6: 55,278,049 (GRCm39)	I631T	probably damaging	Het
Myo5b	T	A	18: 74,710,511 (GRCm39)		probably null	Het
Myo7b	A	T	18: 32,131,203 (GRCm39)	D521E	probably damaging	Het
Nlrp9b	T	A	7: 19,796,608 (GRCm39)	F986I	probably benign	Het
Or8k39	A	G	2: 86,563,299 (GRCm39)	L219P	probably damaging	Het
Patj	A	G	4: 98,357,804 (GRCm39)	D690G	probably benign	Het
Reep4	A	T	14: 70,785,143 (GRCm39)	S150C	probably damaging	Het
Slc25a21	T	C	12: 57,243,685 (GRCm39)	R14G	probably benign	Het
Slc6a6	G	C	6: 91,731,896 (GRCm39)	R575T	probably damaging	Het
Speg	T	A	1: 75,383,323 (GRCm39)	Y886*	probably null	Het
Tas2r103	A	C	6: 133,013,494 (GRCm39)	F191V	probably damaging	Het
Tbc1d19	A	G	5: 53,995,266 (GRCm39)	D145G	probably benign	Het
Tex47	T	A	5: 7,355,461 (GRCm39)	I214N	probably damaging	Het
Tnnt3	A	T	7: 142,055,382 (GRCm39)	D3V	probably damaging	Het
Trdv2-1	T	G	14: 54,183,842 (GRCm39)	S24A	probably benign	Het
Ubr4	A	G	4: 139,179,951 (GRCm39)	D3377G	possibly damaging	Het
Ugt3a1	A	T	15: 9,361,665 (GRCm39)	D147V	probably damaging	Het
Usp9y	A	T	Y: 1,446,843 (GRCm39)	D103E	probably benign	Homo
Vmn1r168	A	G	7: 23,240,961 (GRCm39)	I273V	probably benign	Het
Vmn2r61	T	C	7: 41,915,915 (GRCm39)	I176T	probably benign	Het
Vmn2r8	T	A	5: 108,956,463 (GRCm39)	D53V	probably benign	Het
Zbtb8os	A	T	4: 129,229,775 (GRCm39)		probably benign	Het
Zfp551	C	T	7: 12,149,339 (GRCm39)	R690Q	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
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
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'- CTGACAGTAAAGTGGTTAGTATACG -3'
(R):5'- TTCAAGTGTCCGTGGGTATC -3'

Sequencing Primer
(F):5'- ACGAACCAAGACTAGTTTCTAAAATG -3'
(R):5'- GGTATCGGCGTCTATATAATTCTCG -3'

Posted On

2018-03-15