Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL00340:Pias1'

332349

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Pias1

Ensembl Gene

ENSMUSG00000032405

Gene Name

protein inhibitor of activated STAT 1

Synonyms

2900068C24Rik, Ddxbp1, GBP

Accession Numbers

Essential gene?

Probably essential (E-score: 0.958) question?

Stock #

IGL00340

Quality Score

Status

Chromosome

Chromosomal Location

62785648-62888161 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 62830578 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 187 (V187A)

Ref Sequence

ENSEMBL: ENSMUSP00000149590 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000098651] [ENSMUST00000214830] [ENSMUST00000216209]

AlphaFold

O88907

Predicted Effect

possibly damaging
Transcript: ENSMUST00000098651
AA Change: V196A

PolyPhen 2 Score 0.513 (Sensitivity: 0.88; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000096248
Gene: ENSMUSG00000032405
AA Change: V196A

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

possibly damaging
Transcript: ENSMUST00000214830
AA Change: V196A

PolyPhen 2 Score 0.633 (Sensitivity: 0.87; Specificity: 0.91)

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000215455

Predicted Effect

probably damaging
Transcript: ENSMUST00000216209
AA Change: V187A

PolyPhen 2 Score 0.965 (Sensitivity: 0.78; Specificity: 0.95)

Coding Region Coverage

Validation Efficiency

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: 62 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adamts3	G	A	5: 89,849,525 (GRCm39)	H632Y	probably damaging	Het
Adgre5	T	A	8: 84,455,030 (GRCm39)	M221L	probably benign	Het
Apba2	A	T	7: 64,386,689 (GRCm39)	I439F	possibly damaging	Het
Arid1b	C	A	17: 5,371,559 (GRCm39)	N632K	probably damaging	Het
Bcas3	A	T	11: 85,256,417 (GRCm39)	I60L	probably damaging	Het
Brd9	T	C	13: 74,086,666 (GRCm39)	S56P	probably damaging	Het
Ccdc57	T	A	11: 120,751,295 (GRCm39)	D925V	possibly damaging	Het
Ccna1	A	G	3: 54,958,076 (GRCm39)	V143A	probably damaging	Het
Cdhr3	T	C	12: 33,102,208 (GRCm39)	T410A	probably benign	Het
Cimap3	A	G	3: 105,921,824 (GRCm39)	V33A	probably benign	Het
Ddx60	G	T	8: 62,411,680 (GRCm39)	D511Y	probably damaging	Het
Drc7	C	A	8: 95,782,629 (GRCm39)		probably benign	Het
Dysf	A	G	6: 84,118,933 (GRCm39)	E1290G	probably benign	Het
Fam168b	T	C	1: 34,875,883 (GRCm39)	M1V	probably null	Het
Farsa	A	G	8: 85,590,886 (GRCm39)	K208R	probably damaging	Het
Fnip2	A	G	3: 79,425,368 (GRCm39)		probably benign	Het
Gm17535	A	T	9: 3,035,111 (GRCm39)	H170L	probably benign	Het
Gm4553	T	C	7: 141,718,964 (GRCm39)	S155G	unknown	Het
Gm5852	T	C	3: 93,634,501 (GRCm39)		noncoding transcript	Het
Gnb2	T	C	5: 137,528,968 (GRCm39)		probably benign	Het
Gpr158	A	G	2: 21,373,494 (GRCm39)	N143S	probably damaging	Het
Hcn1	C	A	13: 117,739,513 (GRCm39)	Q92K	unknown	Het
Helb	T	C	10: 119,934,150 (GRCm39)	I678V	possibly damaging	Het
Hnrnpl	C	A	7: 28,512,798 (GRCm39)	A118D	probably damaging	Het
Klhl14	G	A	18: 21,784,921 (GRCm39)	P169S	probably benign	Het
Kndc1	T	C	7: 139,481,904 (GRCm39)		probably benign	Het
Lmod2	A	G	6: 24,598,051 (GRCm39)	E57G	probably damaging	Het
Lrch4	T	C	5: 137,636,009 (GRCm39)	I300T	possibly damaging	Het
Lrp6	A	G	6: 134,433,053 (GRCm39)	V1426A	probably benign	Het
Lrrc39	A	G	3: 116,364,630 (GRCm39)		probably benign	Het
Mamstr	G	A	7: 45,293,709 (GRCm39)	V262I	probably benign	Het
Mob1b	A	T	5: 88,904,014 (GRCm39)	T217S	probably benign	Het
Mocs3	G	A	2: 168,073,411 (GRCm39)	R286H	possibly damaging	Het
Mpo	A	T	11: 87,693,443 (GRCm39)	Q27L	probably benign	Het
Ncdn	A	T	4: 126,640,981 (GRCm39)	D506E	probably benign	Het
Noxa1	A	G	2: 24,984,914 (GRCm39)	I8T	probably benign	Het
Oma1	G	T	4: 103,176,565 (GRCm39)	A110S	probably benign	Het
Or10a48	C	T	7: 108,424,280 (GRCm39)	V309I	probably benign	Het
Or13a18	T	A	7: 140,190,666 (GRCm39)	S196T	probably damaging	Het
Or8b4	A	G	9: 37,830,346 (GRCm39)	Y131C	probably damaging	Het
Pde4a	A	C	9: 21,122,357 (GRCm39)	K694T	probably benign	Het
Phc1	A	G	6: 122,299,958 (GRCm39)		probably benign	Het
Pigf	C	A	17: 87,327,876 (GRCm39)	L130F	probably null	Het
Pkd1	G	T	17: 24,799,069 (GRCm39)	V2763L	probably damaging	Het
Potefam1	G	T	2: 111,051,107 (GRCm39)	L230I	probably damaging	Het
Ppp1r8	T	C	4: 132,561,992 (GRCm39)	Y76C	probably damaging	Het
Ppp6r3	C	A	19: 3,568,324 (GRCm39)	G158V	probably damaging	Het
Ptpn13	A	G	5: 103,698,924 (GRCm39)	I1136V	probably damaging	Het
Ptprq	T	C	10: 107,412,790 (GRCm39)	I1770V	probably damaging	Het
Rhpn2	A	T	7: 35,070,185 (GRCm39)	I148F	probably damaging	Het
Stard3	T	C	11: 98,268,285 (GRCm39)	Y239H	probably damaging	Het
Stau1	T	C	2: 166,792,729 (GRCm39)	Y412C	probably benign	Het
Sucnr1	A	G	3: 59,994,053 (GRCm39)	I194V	probably benign	Het
Tanc1	A	G	2: 59,621,185 (GRCm39)	T335A	possibly damaging	Het
Tmem126a	T	C	7: 90,101,963 (GRCm39)	T79A	probably benign	Het
Trav9-2	A	T	14: 53,828,840 (GRCm39)	Y70F	probably benign	Het
Tspear	A	G	10: 77,709,070 (GRCm39)	E432G	probably benign	Het
Ube2o	T	C	11: 116,435,580 (GRCm39)	R403G	probably benign	Het
Unc80	C	A	1: 66,645,618 (GRCm39)	S1431R	possibly damaging	Het
Usp24	G	A	4: 106,258,336 (GRCm39)	C1578Y	probably damaging	Het
Vsig10	A	T	5: 117,489,652 (GRCm39)	M473L	probably benign	Het
Xpot	T	A	10: 121,441,549 (GRCm39)	M559L	probably benign	Het

Other mutations in Pias1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
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
R5634:Pias1	UTSW	9	62,803,255 (GRCm39)	missense	probably benign	0.10
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

Posted On

2015-08-05