Mutagenetix > Incidental Mutation

Incidental Mutation 'R5634:Pias1'

440034

Institutional Source

Beutler Lab

Gene Symbol

Pias1

Ensembl Gene

ENSMUSG00000032405

Gene Name

protein inhibitor of activated STAT 1

Synonyms

2900068C24Rik, Ddxbp1, GBP

MMRRC Submission

043285-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.949) question?

Stock #

R5634 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

62785648-62888161 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 62803255 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 343 (T343A)

Ref Sequence

ENSEMBL: ENSMUSP00000150834 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000098651] [ENSMUST00000214830]

AlphaFold

O88907

Predicted Effect

probably benign
Transcript: ENSMUST00000098651
AA Change: T343A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000096248
Gene: ENSMUSG00000032405
AA Change: T343A

Domain	Start	End	E-Value	Type
SAP	11	45	5.3e-5	SMART
low complexity region	82	95	N/A	INTRINSIC
low complexity region	103	116	N/A	INTRINSIC
Pfam:PINIT	135	286	9.6e-41	PFAM
Pfam:zf-MIZ	331	380	1.4e-23	PFAM
low complexity region	465	474	N/A	INTRINSIC
low complexity region	482	491	N/A	INTRINSIC
low complexity region	605	621	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000214830
AA Change: T343A

PolyPhen 2 Score 0.100 (Sensitivity: 0.93; Specificity: 0.86)

Meta Mutation Damage Score

0.0614

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.4%
20x: 95.7%

Validation Efficiency

98% (60/61)

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. This protein plays a central role as a transcriptional coregulator of numerous cellular pathways includign the STAT1 and nuclear factor kappaB pathways. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Mar 2016]
PHENOTYPE: Homozygous null mice display partial perinatal lethality, reduced body size, decreased susceptibility to viral infection, and increased susceptibility to bacterial infection and LPS-induced endotoxin shock. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 57 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acat1	T	C	9: 53,494,921 (GRCm39)		probably benign	Het
Aen	A	T	7: 78,552,255 (GRCm39)	T34S	probably benign	Het
Apoh	T	A	11: 108,302,875 (GRCm39)	V280E	probably damaging	Het
Ccdc87	A	G	19: 4,890,693 (GRCm39)	H395R	probably benign	Het
Ccrl2	T	A	9: 110,885,055 (GRCm39)		probably null	Het
Cdh20	T	C	1: 104,902,800 (GRCm39)	F497S	probably damaging	Het
Cfap54	C	A	10: 92,740,125 (GRCm39)		probably benign	Het
Cimap1b	T	A	15: 89,262,410 (GRCm39)	T70S	probably benign	Het
Cipc	T	A	12: 86,999,749 (GRCm39)		probably null	Het
Col14a1	T	A	15: 55,381,694 (GRCm39)	Y1756N	probably damaging	Het
Cyp2c54	G	A	19: 40,060,858 (GRCm39)	A95V	possibly damaging	Het
Dcdc5	A	G	2: 106,234,325 (GRCm39)		noncoding transcript	Het
Dnah17	T	C	11: 117,943,752 (GRCm39)		probably null	Het
Eepd1	A	T	9: 25,514,849 (GRCm39)	N552I	probably benign	Het
Eif2ak4	A	T	2: 118,292,792 (GRCm39)	R1218W	probably damaging	Het
Fbxw18	T	A	9: 109,505,871 (GRCm39)	I467F	possibly damaging	Het
Ffar4	GCTTCTT	GCTT	19: 38,102,373 (GRCm39)		probably benign	Het
Gm4787	G	C	12: 81,424,604 (GRCm39)	T518S	probably benign	Het
Gpha2	A	G	19: 6,276,890 (GRCm39)	T25A	probably benign	Het
Grin3a	T	A	4: 49,792,843 (GRCm39)	I297F	probably damaging	Het
Herc2	G	A	7: 55,856,531 (GRCm39)	G3924R	probably damaging	Het
Hmcn2	G	T	2: 31,223,893 (GRCm39)	D97Y	probably damaging	Het
Igdcc4	G	A	9: 65,041,828 (GRCm39)	G1131D	probably benign	Het
Il18rap	T	C	1: 40,578,536 (GRCm39)		probably benign	Het
Ino80d	C	A	1: 63,101,442 (GRCm39)		probably benign	Het
Klhl1	T	C	14: 96,477,707 (GRCm39)	T454A	probably damaging	Het
Krt84	C	A	15: 101,437,084 (GRCm39)	V360L	probably benign	Het
Lin9	T	A	1: 180,496,763 (GRCm39)	L351I	probably benign	Het
Lrrc37	T	C	11: 103,432,840 (GRCm39)	N1267S	possibly damaging	Het
Mapkbp1	A	G	2: 119,803,576 (GRCm39)	N15S	probably damaging	Het
Med13l	T	C	5: 118,698,915 (GRCm39)	F22S	possibly damaging	Het
Mrc2	T	A	11: 105,227,040 (GRCm39)	C548*	probably null	Het
Nacad	T	C	11: 6,552,387 (GRCm39)	E268G	possibly damaging	Het
Nfxl1	A	G	5: 72,686,833 (GRCm39)	C527R	probably damaging	Het
Nphp1	A	T	2: 127,601,570 (GRCm39)	C412S	possibly damaging	Het
Or1e16	AGCGGTCGTAGGC	AGC	11: 73,286,480 (GRCm39)		probably null	Het
Or4g16	A	G	2: 111,137,437 (GRCm39)	I296V	probably benign	Het
Per2	C	T	1: 91,372,429 (GRCm39)	C215Y	probably benign	Het
Pja2	C	T	17: 64,599,862 (GRCm39)	V541M	probably damaging	Het
Plxna4	G	A	6: 32,214,658 (GRCm39)	Q608*	probably null	Het
Ppil4	T	A	10: 7,690,542 (GRCm39)	D398E	probably benign	Het
Ppp4r3a	T	A	12: 101,009,780 (GRCm39)	D8V	probably damaging	Het
Pstk	A	C	7: 130,973,072 (GRCm39)	D57A	probably damaging	Het
Ptprd	T	C	4: 75,990,255 (GRCm39)	I53V	probably benign	Het
Pyroxd2	A	G	19: 42,728,924 (GRCm39)	F159L	probably benign	Het
Rnf103	A	G	6: 71,486,601 (GRCm39)	M411V	probably benign	Het
Scn4a	T	C	11: 106,220,830 (GRCm39)	D943G	probably benign	Het
Sdk2	T	C	11: 113,742,540 (GRCm39)	T790A	probably damaging	Het
Sfr1	T	C	19: 47,722,310 (GRCm39)	L242P	probably damaging	Het
Snx25	T	C	8: 46,494,428 (GRCm39)	D819G	possibly damaging	Het
Sult2b1	A	G	7: 45,383,506 (GRCm39)	V183A	probably damaging	Het
Tcf4	C	A	18: 69,769,918 (GRCm39)	S8R	possibly damaging	Het
Ttc7	A	G	17: 87,649,515 (GRCm39)	D531G	probably benign	Het
Uap1l1	A	C	2: 25,254,145 (GRCm39)	C271G	probably damaging	Het
Ubtf	T	C	11: 102,201,150 (GRCm39)	Y268C	probably damaging	Het
Vinac1	A	T	2: 128,881,406 (GRCm39)	D173E	probably benign	Het
Zfp951	A	T	5: 104,963,155 (GRCm39)	M137K	probably benign	Het

Other mutations in Pias1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00340:Pias1	APN	9	62,830,578 (GRCm39)	missense	probably damaging	0.96
IGL01011:Pias1	APN	9	62,820,137 (GRCm39)	missense	probably benign	0.00
IGL02412:Pias1	APN	9	62,800,421 (GRCm39)	missense	probably benign	0.44
IGL02728:Pias1	APN	9	62,830,927 (GRCm39)	missense	possibly damaging	0.80
IGL02728:Pias1	APN	9	62,830,926 (GRCm39)	missense	probably damaging	1.00
piety	UTSW	9	62,788,427 (GRCm39)	missense
pope	UTSW	9	62,859,142 (GRCm39)	missense	probably damaging	1.00
R0479:Pias1	UTSW	9	62,800,400 (GRCm39)	splice site	probably benign
R0494:Pias1	UTSW	9	62,794,593 (GRCm39)	nonsense	probably null
R0524:Pias1	UTSW	9	62,859,460 (GRCm39)	missense	probably damaging	1.00
R0558:Pias1	UTSW	9	62,789,291 (GRCm39)	missense	possibly damaging	0.82
R1279:Pias1	UTSW	9	62,799,427 (GRCm39)	missense	probably damaging	0.98
R1525:Pias1	UTSW	9	62,827,769 (GRCm39)	missense	probably damaging	1.00
R1769:Pias1	UTSW	9	62,859,460 (GRCm39)	missense	probably damaging	1.00
R2157:Pias1	UTSW	9	62,820,112 (GRCm39)	missense	possibly damaging	0.63
R2201:Pias1	UTSW	9	62,859,137 (GRCm39)	missense	possibly damaging	0.94
R4193:Pias1	UTSW	9	62,859,286 (GRCm39)	missense	possibly damaging	0.80
R4726:Pias1	UTSW	9	62,827,771 (GRCm39)	missense	probably damaging	0.96
R4880:Pias1	UTSW	9	62,820,080 (GRCm39)	missense	probably benign	0.32
R5107:Pias1	UTSW	9	62,789,510 (GRCm39)	missense	probably benign	0.11
R5574:Pias1	UTSW	9	62,827,775 (GRCm39)	missense	probably damaging	0.99
R5869:Pias1	UTSW	9	62,820,048 (GRCm39)	missense	probably benign	0.06
R6518:Pias1	UTSW	9	62,859,142 (GRCm39)	missense	probably damaging	1.00
R6634:Pias1	UTSW	9	62,826,706 (GRCm39)	missense	probably damaging	1.00
R6798:Pias1	UTSW	9	62,799,451 (GRCm39)	missense	probably benign
R6799:Pias1	UTSW	9	62,789,334 (GRCm39)	missense	probably benign	0.10
R7099:Pias1	UTSW	9	62,788,427 (GRCm39)	missense
R8350:Pias1	UTSW	9	62,859,266 (GRCm39)	missense	probably damaging	0.97
R8361:Pias1	UTSW	9	62,826,668 (GRCm39)	missense	possibly damaging	0.95
R8510:Pias1	UTSW	9	62,830,919 (GRCm39)	missense	probably damaging	1.00
R9074:Pias1	UTSW	9	62,888,164 (GRCm39)	intron	probably benign
X0017:Pias1	UTSW	9	62,888,127 (GRCm39)	splice site	probably null
Z1177:Pias1	UTSW	9	62,820,105 (GRCm39)	missense	probably benign	0.31

Predicted Primers

PCR Primer
(F):5'- GGCAACAAACTTGAATAGCAGA -3'
(R):5'- CCATAGTCACTGTGTTTGATATCCAAA -3'

Sequencing Primer
(F):5'- GCAACAAACTTGAATAGCAGAAAAAC -3'
(R):5'- CAGAGCTGACCATTTGATACCTG -3'

Posted On

2016-11-08