Mutagenetix > Incidental Mutation

Incidental Mutation 'R1751:Pias3'

193493

Institutional Source

Beutler Lab

Gene Symbol

Pias3

Ensembl Gene

ENSMUSG00000028101

Gene Name

protein inhibitor of activated STAT 3

Synonyms

Pias3L

MMRRC Submission

039783-MU

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.520) question?

Stock #

R1751 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

96603700-96613386 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 96608719 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 228 (S228P)

Ref Sequence

ENSEMBL: ENSMUSP00000102692 (fasta)

Gene Model

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

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

probably damaging
Transcript: ENSMUST00000064900
AA Change: S263P

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

SMART Domains

Protein: ENSMUSP00000069259
Gene: ENSMUSG00000028101
AA Change: S263P

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: S254P

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

SMART Domains

Protein: ENSMUSP00000102691
Gene: ENSMUSG00000028101
AA Change: S254P

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 damaging
Transcript: ENSMUST00000107077
AA Change: S228P

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000102692
Gene: ENSMUSG00000028101
AA Change: S228P

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: S254P

PolyPhen 2 Score 0.945 (Sensitivity: 0.80; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000125747
Gene: ENSMUSG00000028101
AA Change: S254P

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

noncoding transcript
Transcript: ENSMUST00000196773

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: 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

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: 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

Meta Mutation Damage Score

0.2320

Coding Region Coverage

1x: 97.5%
3x: 96.9%
10x: 95.3%
20x: 92.5%

Validation Efficiency

99% (85/86)

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: 83 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam26b	T	A	8: 43,972,948 (GRCm39)	I685F	probably benign	Het
Alcam	A	T	16: 52,091,077 (GRCm39)	N480K	probably damaging	Het
Arhgef2	A	G	3: 88,551,260 (GRCm39)	Q778R	probably damaging	Het
Ascc3	T	A	10: 50,594,472 (GRCm39)	I1189N	probably damaging	Het
AU040320	G	A	4: 126,734,517 (GRCm39)	G713D	probably damaging	Het
Bank1	G	T	3: 135,940,375 (GRCm39)	R203S	probably benign	Het
Bank1	A	G	3: 135,960,698 (GRCm39)	V53A	probably benign	Het
Cacna1g	T	C	11: 94,350,628 (GRCm39)	S406G	probably benign	Het
Ccdc198	G	A	14: 49,473,341 (GRCm39)	T128I	probably benign	Het
Ccdc40	T	A	11: 119,121,522 (GRCm39)		probably null	Het
Cdc5l	A	T	17: 45,718,731 (GRCm39)	D628E	probably benign	Het
Chd3	G	A	11: 69,244,727 (GRCm39)		probably benign	Het
Clstn3	A	T	6: 124,408,958 (GRCm39)	W860R	probably damaging	Het
Cntn4	G	A	6: 106,595,371 (GRCm39)		probably null	Het
Coq10b	A	G	1: 55,100,513 (GRCm39)	R66G	probably damaging	Het
Cpn2	A	T	16: 30,078,485 (GRCm39)	Y405*	probably null	Het
Cyp2b9	T	C	7: 25,886,100 (GRCm39)	V89A	probably benign	Het
Depdc1a	T	C	3: 159,228,924 (GRCm39)	C559R	probably damaging	Het
Ephx1	C	T	1: 180,822,242 (GRCm39)	G101S	probably damaging	Het
Fam20a	A	T	11: 109,568,664 (GRCm39)	N287K	probably damaging	Het
Flg	A	T	3: 93,187,220 (GRCm39)	Y224F	possibly damaging	Het
Fzd8	C	T	18: 9,213,643 (GRCm39)	R242C	probably damaging	Het
Gart	A	C	16: 91,439,837 (GRCm39)		probably benign	Het
Gm11116	T	C	5: 88,259,311 (GRCm39)		probably benign	Het
Gm5519	T	C	19: 33,802,391 (GRCm39)	Y145H	possibly damaging	Het
Gmeb1	G	A	4: 131,962,198 (GRCm39)	Q154*	probably null	Het
Gnas	T	A	2: 174,139,687 (GRCm39)		probably benign	Het
Greb1	A	G	12: 16,773,439 (GRCm39)		probably benign	Het
Grin3a	A	T	4: 49,844,423 (GRCm39)	V220E	probably damaging	Het
Gstt2	T	C	10: 75,670,098 (GRCm39)	D8G	probably damaging	Het
Gucy2c	A	T	6: 136,725,773 (GRCm39)		probably benign	Het
Igf2r	A	C	17: 12,916,328 (GRCm39)	S1677A	possibly damaging	Het
Jmjd1c	T	C	10: 67,061,469 (GRCm39)	L1274P	probably benign	Het
Krt13	A	C	11: 100,011,926 (GRCm39)	H132Q	possibly damaging	Het
L1td1	T	C	4: 98,625,686 (GRCm39)	V627A	probably benign	Het
Lrp6	A	G	6: 134,441,531 (GRCm39)	L1145S	probably damaging	Het
Lrrn4cl	A	G	19: 8,829,135 (GRCm39)	T38A	probably benign	Het
Ly96	A	G	1: 16,776,399 (GRCm39)	T112A	probably benign	Het
Meltf	G	T	16: 31,702,747 (GRCm39)	C158F	probably damaging	Het
Mycbp2	A	T	14: 103,485,841 (GRCm39)	H1040Q	probably damaging	Het
Nol8	A	T	13: 49,820,884 (GRCm39)	T914S	probably benign	Het
Npas4	G	A	19: 5,038,211 (GRCm39)	P199L	probably benign	Het
Or12d17	A	T	17: 37,777,792 (GRCm39)	M232L	probably benign	Het
Pcdh10	A	T	3: 45,338,612 (GRCm39)	H923L	probably damaging	Het
Pcp4	A	C	16: 96,326,689 (GRCm39)	Q290P	probably damaging	Het
Pdlim1	C	T	19: 40,240,348 (GRCm39)		probably benign	Het
Pign	A	G	1: 105,580,917 (GRCm39)	V154A	probably benign	Het
Pik3c2a	A	C	7: 115,945,471 (GRCm39)	V1445G	probably damaging	Het
Plod3	T	A	5: 137,019,030 (GRCm39)	V305E	possibly damaging	Het
Plxnc1	A	G	10: 94,685,677 (GRCm39)		probably benign	Het
Prkra	G	T	2: 76,477,584 (GRCm39)	H40Q	possibly damaging	Het
Retnlg	A	T	16: 48,693,991 (GRCm39)	D49V	possibly damaging	Het
Rfx2	A	G	17: 57,091,754 (GRCm39)	V313A	probably benign	Het
Robo2	A	G	16: 73,831,912 (GRCm39)	V256A	probably damaging	Het
Rtp1	A	G	16: 23,250,124 (GRCm39)	E163G	probably damaging	Het
Sbpl	A	G	17: 24,173,777 (GRCm39)		probably null	Het
Scg3	G	A	9: 75,576,622 (GRCm39)	T251M	probably damaging	Het
Setbp1	T	C	18: 78,900,613 (GRCm39)	D1018G	probably damaging	Het
Slc38a11	T	A	2: 65,180,452 (GRCm39)	I182F	probably benign	Het
Slc6a20a	T	A	9: 123,466,165 (GRCm39)	I522F	probably damaging	Het
Smarca2	T	C	19: 26,617,780 (GRCm39)		probably benign	Het
Ssbp3	G	T	4: 106,904,612 (GRCm39)	D336Y	probably damaging	Het
Stox1	T	C	10: 62,495,445 (GRCm39)	T943A	probably damaging	Het
Sun2	A	G	15: 79,609,758 (GRCm39)	S694P	probably benign	Het
Tdp1	G	A	12: 99,857,602 (GRCm39)		probably null	Het
Tfap2a	A	T	13: 40,878,613 (GRCm39)	I204N	probably damaging	Het
Tfip11	T	A	5: 112,482,298 (GRCm39)	W519R	probably damaging	Het
Tie1	T	C	4: 118,333,373 (GRCm39)	E831G	possibly damaging	Het
Tln2	C	T	9: 67,193,796 (GRCm39)	A1773T	probably benign	Het
Tmem39b	A	C	4: 129,586,976 (GRCm39)	I78M	possibly damaging	Het
Trank1	T	C	9: 111,220,547 (GRCm39)	V2428A	probably benign	Het
Trim35	A	G	14: 66,541,617 (GRCm39)	E247G	probably damaging	Het
Trpc7	T	A	13: 56,923,956 (GRCm39)	D743V	probably damaging	Het
Trrap	T	C	5: 144,751,385 (GRCm39)		probably null	Het
Tsc1	A	G	2: 28,566,038 (GRCm39)	I485V	probably damaging	Het
Tsc22d1	T	C	14: 76,655,542 (GRCm39)	S674P	probably damaging	Het
Tsn	A	T	1: 118,228,618 (GRCm39)	D201E	probably damaging	Het
Tsr3	T	C	17: 25,461,613 (GRCm39)	I317T	possibly damaging	Het
Tubb1	A	G	2: 174,298,689 (GRCm39)	S124G	probably benign	Het
Vmn1r192	A	G	13: 22,371,441 (GRCm39)	S260P	probably benign	Het
Vmn2r108	A	T	17: 20,682,786 (GRCm39)	V806E	probably damaging	Het
Wnt10b	A	T	15: 98,670,556 (GRCm39)	L228Q	probably damaging	Het
Zfp108	C	A	7: 23,961,321 (GRCm39)	H637Q	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
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'- TGTTAGAGTTGAACCCCTCCCAGTG -3'
(R):5'- AATTGCCTCACCAGGTACACGGAC -3'

Sequencing Primer
(F):5'- TGCTCCCTCTCCACTAACAAATC -3'
(R):5'- AGAGGGACCATTAGCTTCTGC -3'

Posted On

2014-05-23