Mutagenetix > Incidental Mutation

Incidental Mutation 'R4193:Pias1'

318418

Institutional Source

Beutler Lab

Gene Symbol

Pias1

Ensembl Gene

ENSMUSG00000032405

Gene Name

protein inhibitor of activated STAT 1

Synonyms

2900068C24Rik, Ddxbp1, GBP

MMRRC Submission

041024-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.949) question?

Stock #

R4193 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

62785648-62888161 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 62859286 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 74 (D74G)

Ref Sequence

ENSEMBL: ENSMUSP00000096248 (fasta)

Gene Model

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

AlphaFold

O88907

Predicted Effect

possibly damaging
Transcript: ENSMUST00000098651
AA Change: D74G

PolyPhen 2 Score 0.798 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000096248
Gene: ENSMUSG00000032405
AA Change: D74G

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: D74G

PolyPhen 2 Score 0.009 (Sensitivity: 0.96; Specificity: 0.77)

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000215455

Predicted Effect

possibly damaging
Transcript: ENSMUST00000216209
AA Change: D65G

PolyPhen 2 Score 0.656 (Sensitivity: 0.87; Specificity: 0.91)

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.3%
20x: 95.3%

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: 76 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930474N05Rik	G	T	14: 35,818,536 (GRCm39)	R178L	possibly damaging	Het
Abcb1a	G	A	5: 8,765,068 (GRCm39)		probably null	Het
Acap3	A	G	4: 155,986,234 (GRCm39)	T285A	probably benign	Het
Adam20	A	T	8: 41,248,352 (GRCm39)	N154I	probably damaging	Het
Adamts8	A	T	9: 30,870,604 (GRCm39)	D693V	probably damaging	Het
Ak9	A	G	10: 41,211,941 (GRCm39)	H226R	probably benign	Het
Atp6v1b1	A	G	6: 83,720,085 (GRCm39)	S7G	probably benign	Het
Atxn7l3b	C	A	10: 112,764,610 (GRCm39)	L6F	probably damaging	Het
Bco1	C	T	8: 117,840,208 (GRCm39)	T242M	probably damaging	Het
Btla	A	G	16: 45,070,845 (GRCm39)	N268S	probably benign	Het
Capn9	A	G	8: 125,327,225 (GRCm39)	S292G	probably null	Het
Cdhr18	C	T	14: 13,914,416 (GRCm38)	V9I	probably benign	Het
Col7a1	G	A	9: 108,785,740 (GRCm39)	S403N	unknown	Het
Ctps1	A	G	4: 120,405,335 (GRCm39)	V369A	probably damaging	Het
Ddx19b	A	T	8: 111,737,980 (GRCm39)	L256Q	probably damaging	Het
Dnah7a	T	C	1: 53,486,493 (GRCm39)	K3356R	probably benign	Het
Dpf2	G	A	19: 5,957,044 (GRCm39)	R60*	probably null	Het
Eif3h	A	T	15: 51,662,695 (GRCm39)	V117E	probably damaging	Het
Fam234a	A	T	17: 26,432,834 (GRCm39)	L467Q	probably damaging	Het
Fez1	T	A	9: 36,755,023 (GRCm39)	S7R	probably damaging	Het
Fh1	T	A	1: 175,442,407 (GRCm39)	M148L	possibly damaging	Het
Gabra2	G	A	5: 71,165,341 (GRCm39)	P210S	probably benign	Het
Gfm1	T	G	3: 67,339,053 (GRCm39)	I52S	probably damaging	Het
Gm6729	A	T	10: 86,376,483 (GRCm39)		noncoding transcript	Het
Gpr152	T	G	19: 4,192,906 (GRCm39)	L149R	probably damaging	Het
H2bc27	T	A	11: 58,840,067 (GRCm39)	L101Q	probably damaging	Het
Ifnar2	A	T	16: 91,201,232 (GRCm39)	D491V	probably damaging	Het
Igkv14-126	T	C	6: 67,873,367 (GRCm39)	S32P	possibly damaging	Het
Il1rl2	A	G	1: 40,404,208 (GRCm39)	E443G	probably damaging	Het
Impg2	A	G	16: 56,088,774 (GRCm39)	D1100G	probably benign	Het
Itga2	G	A	13: 115,023,185 (GRCm39)	R56*	probably null	Het
Itga2b	A	G	11: 102,360,511 (GRCm39)	S10P	probably benign	Het
Jmjd1c	C	T	10: 66,932,460 (GRCm39)		probably benign	Het
Kdm7a	T	G	6: 39,146,030 (GRCm39)	K299T	probably damaging	Het
Large2	T	A	2: 92,195,704 (GRCm39)	D632V	probably damaging	Het
Lrp2	C	T	2: 69,297,487 (GRCm39)	C3158Y	probably damaging	Het
Malt1	T	A	18: 65,580,746 (GRCm39)	D213E	probably benign	Het
Nkapl	T	C	13: 21,651,512 (GRCm39)	Q367R	probably benign	Het
Nwd2	T	C	5: 63,964,808 (GRCm39)	L1464P	probably damaging	Het
Or1e25	C	G	11: 73,494,243 (GRCm39)	T279R	probably damaging	Het
Or2y1	A	C	11: 49,386,134 (GRCm39)	Y258S	probably damaging	Het
Or7a40	A	T	16: 16,491,511 (GRCm39)	D111E	possibly damaging	Het
Or8u10	T	A	2: 85,916,044 (GRCm39)	I26F	probably benign	Het
Or9g20	C	T	2: 85,630,362 (GRCm39)	C84Y	probably benign	Het
P2ry2	A	G	7: 100,647,657 (GRCm39)	V216A	probably benign	Het
Pcdhb1	A	G	18: 37,400,199 (GRCm39)	K717E	probably damaging	Het
Pcdhgb8	G	C	18: 37,896,594 (GRCm39)	D555H	probably damaging	Het
Pcsk6	T	C	7: 65,675,056 (GRCm39)	S476P	probably damaging	Het
Phactr3	T	A	2: 177,924,945 (GRCm39)	H293Q	probably damaging	Het
Plekhg6	T	C	6: 125,350,081 (GRCm39)	T286A	probably benign	Het
Pramel23	A	T	4: 143,424,903 (GRCm39)	L180Q	probably damaging	Het
Prkag2	A	C	5: 25,083,758 (GRCm39)	M75R	probably damaging	Het
Prl7c1	T	A	13: 27,960,261 (GRCm39)	M94L	probably benign	Het
Prodh	C	T	16: 17,891,504 (GRCm39)	V480I	probably benign	Het
Ptprn2	A	G	12: 116,864,628 (GRCm39)	I548V	probably benign	Het
Ptprr	T	C	10: 116,088,769 (GRCm39)	W307R	probably damaging	Het
Rab29	T	C	1: 131,797,700 (GRCm39)	S52P	possibly damaging	Het
Ralgapa2	A	G	2: 146,184,493 (GRCm39)	F1505L	probably damaging	Het
Scn8a	C	T	15: 100,869,484 (GRCm39)	A209V	probably damaging	Het
Senp2	G	T	16: 21,865,417 (GRCm39)	W580L	probably damaging	Het
Septin4	A	T	11: 87,474,142 (GRCm39)		probably null	Het
Slc17a5	C	A	9: 78,466,388 (GRCm39)	V269L	possibly damaging	Het
Slc2a9	T	C	5: 38,556,049 (GRCm39)	N299S	probably damaging	Het
Slc41a2	T	A	10: 83,137,085 (GRCm39)	H274L	probably damaging	Het
Suco	A	T	1: 161,691,528 (GRCm39)	D43E	probably benign	Het
Tacr2	T	A	10: 62,088,958 (GRCm39)	I121N	probably damaging	Het
Tanc2	G	A	11: 105,804,888 (GRCm39)		probably benign	Het
Tbl1xr1	T	C	3: 22,254,522 (GRCm39)	F322L	possibly damaging	Het
Tdrd1	T	A	19: 56,839,773 (GRCm39)	L611*	probably null	Het
Tgfbr2	T	C	9: 115,939,009 (GRCm39)	T298A	probably damaging	Het
Tmprss12	T	C	15: 100,187,185 (GRCm39)	V217A	probably damaging	Het
Ttbk1	A	T	17: 46,790,173 (GRCm39)	C91S	probably damaging	Het
Vit	A	G	17: 78,894,255 (GRCm39)	H219R	probably benign	Het
Vmn1r71	A	T	7: 10,482,175 (GRCm39)	I105K	possibly damaging	Het
Vmn2r57	A	G	7: 41,077,663 (GRCm39)	F168L	probably benign	Het
Zfp945	C	T	17: 23,070,144 (GRCm39)		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
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

Predicted Primers

PCR Primer
(F):5'- TCAGTTCATCCAACAGGTCATAG -3'
(R):5'- TCTGAACTCCAAGTACTGTTGGG -3'

Sequencing Primer
(F):5'- ACAGGTCATAGAATGGTAGCTTCTGC -3'
(R):5'- AACTCCAAGTACTGTTGGGCTACG -3'

Posted On

2015-06-10