Mutagenetix > Incidental Mutation

Incidental Mutation 'R2184:Pias3'

237332

Institutional Source

Beutler Lab

Gene Symbol

Pias3

Ensembl Gene

ENSMUSG00000028101

Gene Name

protein inhibitor of activated STAT 3

Synonyms

Pias3L

MMRRC Submission

040186-MU

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.506) question?

Stock #

R2184 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

96603700-96613386 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 96609537 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Glycine at position 311 (S311G)

Ref Sequence

ENSEMBL: ENSMUSP00000125747 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000029742] [ENSMUST00000064900] [ENSMUST00000107076] [ENSMUST00000107077] [ENSMUST00000162934] [ENSMUST00000162778] [ENSMUST00000176302] [ENSMUST00000200387] [ENSMUST00000171249]

AlphaFold

O54714

Predicted Effect

probably benign
Transcript: ENSMUST00000029742

SMART Domains

Protein: ENSMUSP00000029742
Gene: ENSMUSG00000028100

Domain	Start	End	E-Value	Type
low complexity region	2	14	N/A	INTRINSIC
Pfam:NUDIX	92	252	2.2e-9	PFAM
low complexity region	273	288	N/A	INTRINSIC

Predicted Effect

possibly damaging
Transcript: ENSMUST00000064900
AA Change: S320G

PolyPhen 2 Score 0.845 (Sensitivity: 0.83; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000069259
Gene: ENSMUSG00000028101
AA Change: S320G

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

possibly damaging
Transcript: ENSMUST00000107076
AA Change: S311G

PolyPhen 2 Score 0.845 (Sensitivity: 0.83; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000102691
Gene: ENSMUSG00000028101
AA Change: S311G

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

possibly damaging
Transcript: ENSMUST00000107077
AA Change: S285G

PolyPhen 2 Score 0.904 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000102692
Gene: ENSMUSG00000028101
AA Change: S285G

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 benign
Transcript: ENSMUST00000162156

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000162707

Predicted Effect

possibly damaging
Transcript: ENSMUST00000162934
AA Change: S311G

PolyPhen 2 Score 0.924 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000125747
Gene: ENSMUSG00000028101
AA Change: S311G

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: ENSMUST00000196773

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000176288

Predicted Effect

probably benign
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 benign
Transcript: ENSMUST00000176302

SMART Domains

Protein: ENSMUSP00000134835
Gene: ENSMUSG00000028101

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

Predicted Effect

probably benign
Transcript: ENSMUST00000200387

SMART Domains

Protein: ENSMUSP00000142879
Gene: ENSMUSG00000028100

Domain	Start	End	E-Value	Type
signal peptide	1	16	N/A	INTRINSIC
Pfam:NUDIX	79	125	4.2e-6	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000171249

SMART Domains

Protein: ENSMUSP00000129851
Gene: ENSMUSG00000028100

Domain	Start	End	E-Value	Type
low complexity region	2	14	N/A	INTRINSIC
Pfam:NUDIX	92	235	1.2e-18	PFAM
low complexity region	256	271	N/A	INTRINSIC

Coding Region Coverage

1x: 99.2%
3x: 98.7%
10x: 97.4%
20x: 95.4%

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 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: 78 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700088E04Rik	T	C	15: 79,019,389 (GRCm39)	R184G	probably damaging	Het
2300002M23Rik	C	A	17: 35,879,115 (GRCm39)	A151E	probably benign	Het
A930011G23Rik	C	T	5: 99,380,228 (GRCm39)	R339Q	possibly damaging	Het
Abcd2	T	C	15: 91,075,642 (GRCm39)	Y57C	probably benign	Het
Adprhl1	A	G	8: 13,292,559 (GRCm39)	V244A	probably benign	Het
Agl	T	C	3: 116,574,426 (GRCm39)	N753D	probably benign	Het
Amotl1	T	A	9: 14,486,686 (GRCm39)	M440L	probably benign	Het
Angpt2	A	G	8: 18,742,132 (GRCm39)	Y475H	probably benign	Het
Angpt4	A	T	2: 151,780,874 (GRCm39)	H374L	probably damaging	Het
Ank1	A	T	8: 23,599,270 (GRCm39)	T801S	probably damaging	Het
Ap5m1	G	T	14: 49,323,752 (GRCm39)	A481S	probably damaging	Het
AY358078	G	T	14: 52,063,445 (GRCm39)	G364W	probably damaging	Het
C4b	C	A	17: 34,956,676 (GRCm39)	A641S	probably benign	Het
Capn13	T	C	17: 73,672,943 (GRCm39)	Y120C	probably damaging	Het
Cbx6	T	C	15: 79,712,762 (GRCm39)	T222A	probably benign	Het
Cckar	T	C	5: 53,860,254 (GRCm39)	T192A	probably damaging	Het
Cdc42bpb	T	C	12: 111,262,478 (GRCm39)	D30G	probably damaging	Het
Cdk18	A	G	1: 132,043,690 (GRCm39)	Y385H	probably damaging	Het
Cep170	A	T	1: 176,584,542 (GRCm39)	D612E	probably benign	Het
Dennd4b	G	T	3: 90,182,847 (GRCm39)	R888L	probably damaging	Het
Egf	A	T	3: 129,517,007 (GRCm39)	C373*	probably null	Het
Gabrb2	T	C	11: 42,312,255 (GRCm39)		probably null	Het
Gle1	G	T	2: 29,839,030 (GRCm39)	A482S	probably damaging	Het
Gm10644	T	C	8: 84,660,256 (GRCm39)	T30A	possibly damaging	Het
Gmnn	A	G	13: 24,937,706 (GRCm39)	Y95H	probably damaging	Het
Hectd3	T	A	4: 116,858,100 (GRCm39)	S643T	possibly damaging	Het
Hoga1	A	G	19: 42,049,830 (GRCm39)	Y225C	probably damaging	Het
Hook3	T	C	8: 26,609,011 (GRCm39)	E11G	probably benign	Het
Hsd17b1	C	A	11: 100,969,357 (GRCm39)	S30R	probably benign	Het
Htr3b	G	A	9: 48,858,544 (GRCm39)	P112S	probably damaging	Het
Iqch	T	A	9: 63,432,351 (GRCm39)	D348V	probably damaging	Het
Irgm2	A	T	11: 58,111,254 (GRCm39)	N327I	probably benign	Het
Itgb4	T	C	11: 115,870,450 (GRCm39)	I93T	probably damaging	Het
Lamb2	T	C	9: 108,357,752 (GRCm39)	F92L	probably damaging	Het
Lats2	T	C	14: 57,929,016 (GRCm39)	H953R	probably damaging	Het
Lrp1b	T	C	2: 40,620,714 (GRCm39)	E3588G	probably benign	Het
Marchf1	A	G	8: 66,840,075 (GRCm39)	E286G	probably benign	Het
Mc2r	G	T	18: 68,541,196 (GRCm39)	F32L	probably benign	Het
Mink1	C	T	11: 70,494,623 (GRCm39)	T268M	probably damaging	Het
Mta1	G	A	12: 113,093,815 (GRCm39)		probably null	Het
Muc5b	C	A	7: 141,412,601 (GRCm39)	S1849*	probably null	Het
Myh15	A	G	16: 48,957,874 (GRCm39)	E897G	probably damaging	Het
Nobox	T	C	6: 43,281,819 (GRCm39)	Q418R	possibly damaging	Het
Obsl1	G	T	1: 75,478,861 (GRCm39)	Q626K	probably benign	Het
Or11h4	A	G	14: 50,974,059 (GRCm39)	S187P	probably damaging	Het
Or13a24	T	C	7: 140,154,315 (GRCm39)	V83A	probably benign	Het
Or1j12	A	G	2: 36,343,046 (GRCm39)	T150A	probably benign	Het
Or2w25	T	A	11: 59,503,964 (GRCm39)	M58K	probably damaging	Het
Or5w14	G	A	2: 87,541,549 (GRCm39)	R234C	probably damaging	Het
Or8k24	G	A	2: 86,216,489 (GRCm39)	T91I	probably benign	Het
Or9i1	A	G	19: 13,839,399 (GRCm39)	I81V	probably benign	Het
Pald1	C	T	10: 61,182,915 (GRCm39)	A345T	possibly damaging	Het
Pde8b	G	A	13: 95,162,723 (GRCm39)	P800S	probably damaging	Het
Pgm2l1	G	A	7: 99,917,362 (GRCm39)	C493Y	possibly damaging	Het
Pkhd1l1	A	G	15: 44,362,692 (GRCm39)	N573D	possibly damaging	Het
Plaat3	A	G	19: 7,556,583 (GRCm39)	D128G	probably damaging	Het
Plxnc1	T	G	10: 94,780,131 (GRCm39)	S104R	probably damaging	Het
Pofut2	T	A	10: 77,103,059 (GRCm39)	F179I	probably damaging	Het
Prkcsh	T	A	9: 21,916,028 (GRCm39)	C112S	probably damaging	Het
Prss32	G	A	17: 24,078,297 (GRCm39)	A328T	probably benign	Het
Ptgir	G	T	7: 16,642,708 (GRCm39)	R103L	probably damaging	Het
Ptpn5	G	A	7: 46,738,350 (GRCm39)	S244F	probably damaging	Het
Rnpepl1	G	A	1: 92,844,545 (GRCm39)	V346I	probably benign	Het
Sh3rf1	T	A	8: 61,825,688 (GRCm39)	V561D	probably damaging	Het
Slc22a19	A	T	19: 7,687,026 (GRCm39)	Y160N	probably benign	Het
Sorbs3	A	G	14: 70,428,880 (GRCm39)		probably null	Het
Sostdc1	T	G	12: 36,367,295 (GRCm39)	I157S	probably damaging	Het
Svil	G	T	18: 5,099,534 (GRCm39)	R1777L	probably damaging	Het
Svil	A	T	18: 5,099,615 (GRCm39)	E1804V	probably damaging	Het
Tasor	T	A	14: 27,188,141 (GRCm39)	N862K	possibly damaging	Het
Thbs4	A	G	13: 92,911,302 (GRCm39)	S294P	probably benign	Het
Tle2	A	G	10: 81,426,111 (GRCm39)	Y750C	probably damaging	Het
Tmcc3	T	C	10: 94,418,168 (GRCm39)	L312P	probably damaging	Het
Tnip2	TCTCCT	TCT	5: 34,656,957 (GRCm39)		probably benign	Het
Tnpo2	T	A	8: 85,780,475 (GRCm39)	M734K	probably benign	Het
Trmt2a	A	T	16: 18,070,859 (GRCm39)	R531W	probably benign	Het
Ubn2	C	T	6: 38,461,029 (GRCm39)	R483W	probably damaging	Het
Zc3hav1	T	A	6: 38,284,343 (GRCm39)	Y924F	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
R1611:Pias3	UTSW	3	96,607,013 (GRCm39)	splice site	probably null
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
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'- GTCTAAGCATCTTCAGGGACGC -3'
(R):5'- GCATCGAAACTCTGCAGATGG -3'

Sequencing Primer
(F):5'- AGGGACGCAGACATCTCTTCTC -3'
(R):5'- ACTCTGCAGATGGGCACAG -3'

Posted On

2014-10-02