Mutagenetix > Incidental Mutation

Incidental Mutation 'R1611:Pias3'

176777

Institutional Source

Beutler Lab

Gene Symbol

Pias3

Ensembl Gene

ENSMUSG00000028101

Gene Name

protein inhibitor of activated STAT 3

Synonyms

Pias3L

MMRRC Submission

039648-MU

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.520) question?

Stock #

R1611 (G1)

Quality Score

185

Status

Validated

Chromosome

Chromosomal Location

96603700-96613386 bp(+) (GRCm39)

Type of Mutation

splice site (5 bp from exon)

DNA Base Change (assembly)

T to A at 96607013 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000125377 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000064900] [ENSMUST00000107076] [ENSMUST00000107077] [ENSMUST00000162778] [ENSMUST00000162934] [ENSMUST00000176302]

AlphaFold

O54714

Predicted Effect

probably damaging
Transcript: ENSMUST00000064900
AA Change: L101Q

PolyPhen 2 Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000069259
Gene: ENSMUSG00000028101
AA Change: L101Q

Domain	Start	End	E-Value	Type
SAP	11	45	3.75e-5	SMART
low complexity region	70	109	N/A	INTRINSIC
Pfam:PINIT	126	278	1.1e-38	PFAM
Pfam:zf-MIZ	323	372	1.7e-22	PFAM
low complexity region	608	617	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000107076
AA Change: L92Q

PolyPhen 2 Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000102691
Gene: ENSMUSG00000028101
AA Change: L92Q

Domain	Start	End	E-Value	Type
SAP	2	36	3.75e-5	SMART
low complexity region	61	100	N/A	INTRINSIC
Pfam:PINIT	113	269	1.1e-45	PFAM
Pfam:zf-Nse	305	361	8e-7	PFAM
Pfam:zf-MIZ	314	363	2.2e-21	PFAM
low complexity region	599	608	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000107077

SMART Domains

Protein: ENSMUSP00000102692
Gene: ENSMUSG00000028101

Domain	Start	End	E-Value	Type
SAP	11	45	3.75e-5	SMART
Pfam:PINIT	87	243	5.3e-46	PFAM
Pfam:zf-Nse	279	335	2.4e-7	PFAM
Pfam:zf-MIZ	288	337	7.4e-22	PFAM
low complexity region	573	582	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000161296

Predicted Effect

probably null
Transcript: ENSMUST00000162156

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000162707

Predicted Effect

probably null
Transcript: ENSMUST00000162778

SMART Domains

Protein: ENSMUSP00000125377
Gene: ENSMUSG00000028101

Domain	Start	End	E-Value	Type
SAP	2	36	3.75e-5	SMART
low complexity region	61	84	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000162934
AA Change: L92Q

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

SMART Domains

Protein: ENSMUSP00000125747
Gene: ENSMUSG00000028101
AA Change: L92Q

Domain	Start	End	E-Value	Type
SAP	2	36	3.75e-5	SMART
low complexity region	61	100	N/A	INTRINSIC
Pfam:PINIT	113	269	1.3e-46	PFAM
Pfam:zf-Nse	305	361	7e-8	PFAM
Pfam:zf-MIZ	314	363	2.6e-22	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000176288

Predicted Effect

probably benign
Transcript: ENSMUST00000176302

SMART Domains

Protein: ENSMUSP00000134835
Gene: ENSMUSG00000028101

Domain	Start	End	E-Value	Type
SAP	2	36	2.57e-3	SMART

Meta Mutation Damage Score

0.9755

Coding Region Coverage

1x: 98.9%
3x: 98.0%
10x: 95.2%
20x: 88.9%

Validation Efficiency

97% (75/77)

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 PIAS [protein inhibitor of activated STAT (signal transducer and activator of transcription)] family of transcriptional modulators. The protein functions as a SUMO (small ubiquitin-like modifier)-E3 ligase which catalyzes the covalent attachment of a SUMO protein to specific target substrates. It directly binds to several transcription factors and either blocks or enhances their activity. Alternatively spliced transcript variants of this gene have been identified, but the full-length nature of some of these variants has not been determined. [provided by RefSeq, Jul 2008]
PHENOTYPE: Double KO mice display a retinal phenotype reduced M-cone response at P21 and reduced S-cone and rod responses from 7 months. [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
Acsl6	A	T	11: 54,216,390 (GRCm39)	I186F	possibly damaging	Het
Actr6	T	A	10: 89,568,064 (GRCm39)	K14*	probably null	Het
Adgrv1	A	T	13: 81,707,236 (GRCm39)	V1390E	probably damaging	Het
Akap1	C	T	11: 88,736,104 (GRCm39)	R186K	probably benign	Het
Alg10b	T	A	15: 90,109,984 (GRCm39)	V99D	probably damaging	Het
Atp2c1	C	T	9: 105,320,051 (GRCm39)	G407S	probably damaging	Het
Atp9a	T	C	2: 168,515,489 (GRCm39)	M401V	probably damaging	Het
Auh	G	A	13: 52,989,532 (GRCm39)	P308L	probably benign	Het
Bclaf1	T	C	10: 20,198,998 (GRCm39)		probably benign	Het
Bcr	T	A	10: 74,961,034 (GRCm39)		probably null	Het
Bivm	T	C	1: 44,165,907 (GRCm39)	I119T	possibly damaging	Het
Cacna1h	A	G	17: 25,600,445 (GRCm39)	I1632T	probably damaging	Het
Capn9	G	A	8: 125,338,251 (GRCm39)	V537M	possibly damaging	Het
Cdk11b	G	A	4: 155,726,032 (GRCm39)		probably benign	Het
Cdk18	T	A	1: 132,050,113 (GRCm39)	I21F	probably damaging	Het
Cep85l	T	C	10: 53,224,777 (GRCm39)	T271A	probably benign	Het
Chrm5	T	C	2: 112,309,532 (GRCm39)	N528S	possibly damaging	Het
Cpsf6	T	A	10: 117,197,733 (GRCm39)		probably benign	Het
Cpt1c	T	C	7: 44,609,536 (GRCm39)	T689A	probably benign	Het
D030068K23Rik	T	C	8: 109,975,935 (GRCm39)	Y64C	unknown	Het
Ddb1	T	A	19: 10,604,128 (GRCm39)		probably null	Het
Ddb1	T	A	19: 10,590,252 (GRCm39)	C260S	probably damaging	Het
Depdc5	C	A	5: 33,148,297 (GRCm39)	Q1478K	probably damaging	Het
Diaph1	A	C	18: 38,033,755 (GRCm39)	M247R	unknown	Het
Dnai3	T	C	3: 145,801,113 (GRCm39)	Y115C	probably damaging	Het
Dusp8	T	C	7: 141,636,694 (GRCm39)	S299G	probably benign	Het
Erbb4	C	A	1: 68,079,547 (GRCm39)	G1178C	probably damaging	Het
Exoc7	A	T	11: 116,186,091 (GRCm39)	I370N	possibly damaging	Het
Fam120a	G	T	13: 49,039,219 (GRCm39)	A979E	possibly damaging	Het
Gm12353	T	A	4: 19,631,843 (GRCm39)	Y27*	probably null	Het
Gnl1	C	T	17: 36,298,441 (GRCm39)	T395I	probably damaging	Het
Hpse2	G	A	19: 42,777,504 (GRCm39)	T554I	probably damaging	Het
Hsd17b11	T	C	5: 104,157,765 (GRCm39)	I116V	probably benign	Het
Inava	G	A	1: 136,143,855 (GRCm39)	P527L	probably damaging	Het
Kif24	A	T	4: 41,423,552 (GRCm39)	V233E	probably benign	Het
Klhl5	A	G	5: 65,321,992 (GRCm39)	T673A	probably benign	Het
Kmt2c	C	A	5: 25,564,309 (GRCm39)		probably null	Het
Lipg	T	C	18: 75,081,130 (GRCm39)	N317S	possibly damaging	Het
Lpin1	A	T	12: 16,627,219 (GRCm39)	L109Q	probably null	Het
Lyst	A	G	13: 13,809,482 (GRCm39)	E384G	probably damaging	Het
Mical2	T	A	7: 111,980,671 (GRCm39)	I105N	probably damaging	Het
Muc4	C	T	16: 32,569,804 (GRCm39)	T288I	possibly damaging	Het
Naa35	G	T	13: 59,776,747 (GRCm39)	R574L	probably benign	Het
Ncor2	T	C	5: 125,187,084 (GRCm39)		probably benign	Het
Nedd9	T	A	13: 41,470,406 (GRCm39)	D249V	probably benign	Het
Nsg1	T	A	5: 38,296,060 (GRCm39)	K38*	probably null	Het
Nup155	T	A	15: 8,159,644 (GRCm39)	D518E	probably damaging	Het
Or5i1	T	A	2: 87,612,968 (GRCm39)	I28N	probably benign	Het
Ovol1	T	A	19: 5,601,098 (GRCm39)	H231L	probably damaging	Het
Parg	A	G	14: 31,960,527 (GRCm39)	I586V	probably damaging	Het
Pde7b	T	C	10: 20,310,236 (GRCm39)	N242S	probably benign	Het
Pramel13	A	T	4: 144,119,382 (GRCm39)	V395E	probably benign	Het
Ptprf	A	G	4: 118,093,430 (GRCm39)	V404A	probably benign	Het
Rigi	T	C	4: 40,223,862 (GRCm39)	Y339C	probably damaging	Het
Rnf145	T	C	11: 44,442,625 (GRCm39)	L259P	probably damaging	Het
Rps6ka5	C	G	12: 100,537,111 (GRCm39)	V540L	possibly damaging	Het
Ryr3	C	T	2: 112,483,850 (GRCm39)	D3966N	possibly damaging	Het
Samd9l	A	T	6: 3,373,771 (GRCm39)	S1163R	probably benign	Het
Serpinb9g	T	C	13: 33,676,857 (GRCm39)	I213T	possibly damaging	Het
Sil1	A	T	18: 35,402,141 (GRCm39)	V331E	possibly damaging	Het
Ski	A	G	4: 155,244,395 (GRCm39)	F410S	probably damaging	Het
Slc25a25	C	T	2: 32,310,391 (GRCm39)	E123K	probably damaging	Het
Slfnl1	A	G	4: 120,390,574 (GRCm39)	E75G	probably benign	Het
Sp1	T	A	15: 102,339,370 (GRCm39)	I436N	probably damaging	Het
Taf4b	A	T	18: 14,977,526 (GRCm39)	E766V	probably null	Het
Tgfbr1	A	G	4: 47,396,526 (GRCm39)	Y180C	probably damaging	Het
Ube4a	T	C	9: 44,868,035 (GRCm39)		probably benign	Het
Vmn2r1	T	A	3: 64,011,958 (GRCm39)	C606*	probably null	Het
Zfp341	C	A	2: 154,487,623 (GRCm39)	H702Q	probably damaging	Het

Other mutations in Pias3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00958:Pias3	APN	3	96,606,738 (GRCm39)	splice site	probably benign
IGL01370:Pias3	APN	3	96,610,891 (GRCm39)	missense	probably damaging	0.96
IGL01806:Pias3	APN	3	96,611,073 (GRCm39)	missense	probably benign	0.02
IGL02533:Pias3	APN	3	96,606,932 (GRCm39)	missense	possibly damaging	0.71
IGL02998:Pias3	APN	3	96,609,495 (GRCm39)	missense	probably damaging	0.98
IGL03304:Pias3	APN	3	96,607,347 (GRCm39)	missense	possibly damaging	0.65
R0764:Pias3	UTSW	3	96,608,611 (GRCm39)	missense	probably damaging	1.00
R1697:Pias3	UTSW	3	96,609,541 (GRCm39)	missense	probably damaging	1.00
R1751:Pias3	UTSW	3	96,608,719 (GRCm39)	missense	probably damaging	1.00
R1767:Pias3	UTSW	3	96,608,719 (GRCm39)	missense	probably damaging	1.00
R2184:Pias3	UTSW	3	96,609,537 (GRCm39)	missense	possibly damaging	0.92
R2257:Pias3	UTSW	3	96,606,962 (GRCm39)	missense	probably benign	0.22
R2398:Pias3	UTSW	3	96,611,129 (GRCm39)	missense	probably benign	0.00
R2851:Pias3	UTSW	3	96,610,853 (GRCm39)	missense	possibly damaging	0.94
R3845:Pias3	UTSW	3	96,609,526 (GRCm39)	missense	probably benign	0.28
R4127:Pias3	UTSW	3	96,606,982 (GRCm39)	missense	probably damaging	0.97
R4500:Pias3	UTSW	3	96,608,734 (GRCm39)	missense	probably damaging	1.00
R4628:Pias3	UTSW	3	96,607,136 (GRCm39)	missense	probably damaging	1.00
R5068:Pias3	UTSW	3	96,611,171 (GRCm39)	missense	probably damaging	0.98
R5108:Pias3	UTSW	3	96,612,253 (GRCm39)	missense	possibly damaging	0.88
R5477:Pias3	UTSW	3	96,612,319 (GRCm39)	missense	probably damaging	0.99
R5498:Pias3	UTSW	3	96,609,504 (GRCm39)	missense	possibly damaging	0.89
R6457:Pias3	UTSW	3	96,606,839 (GRCm39)	missense	possibly damaging	0.81
R6966:Pias3	UTSW	3	96,609,511 (GRCm39)	missense	probably damaging	0.99
R7235:Pias3	UTSW	3	96,611,679 (GRCm39)	missense	probably benign
R7538:Pias3	UTSW	3	96,609,534 (GRCm39)	missense	possibly damaging	0.91
R7552:Pias3	UTSW	3	96,608,701 (GRCm39)	frame shift	probably null
R8791:Pias3	UTSW	3	96,612,201 (GRCm39)	missense	probably benign	0.22
R8815:Pias3	UTSW	3	96,607,381 (GRCm39)	missense	probably damaging	0.98
R9197:Pias3	UTSW	3	96,611,064 (GRCm39)	missense	probably benign	0.36
R9565:Pias3	UTSW	3	96,610,867 (GRCm39)	missense	possibly damaging	0.86
R9798:Pias3	UTSW	3	96,606,881 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- AGCACATGGTGATGAGTTTCCGAG -3'
(R):5'- AGGGAGCATAGTCAGCCATACCAAG -3'

Sequencing Primer
(F):5'- CTTCGCTGGCAGGAACAAG -3'
(R):5'- CATACCAAGGGTGGTGGGTC -3'

Posted On

2014-04-24