Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01655:Pias4'

102961

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Pias4

Ensembl Gene

ENSMUSG00000004934

Gene Name

protein inhibitor of activated STAT 4

Synonyms

PIASy

Accession Numbers

Essential gene?

Probably essential (E-score: 0.911) question?

Stock #

IGL01655

Quality Score

Status

Chromosome

Chromosomal Location

80989795-81003554 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 80991492 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Lysine to Glutamic Acid at position 352 (K352E)

Ref Sequence

ENSEMBL: ENSMUSP00000005064 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000005064] [ENSMUST00000048128] [ENSMUST00000121840] [ENSMUST00000135765]

AlphaFold

Q9JM05

Predicted Effect

probably benign
Transcript: ENSMUST00000005064
AA Change: K352E

PolyPhen 2 Score 0.070 (Sensitivity: 0.94; Specificity: 0.84)

SMART Domains

Protein: ENSMUSP00000005064
Gene: ENSMUSG00000004934
AA Change: K352E

Domain	Start	End	E-Value	Type
SAP	12	46	4.44e-7	SMART
Pfam:PINIT	123	270	9.6e-35	PFAM
Pfam:zf-MIZ	315	364	2.4e-24	PFAM
low complexity region	429	454	N/A	INTRINSIC
low complexity region	469	489	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000048128

SMART Domains

Protein: ENSMUSP00000047333
Gene: ENSMUSG00000035011

Domain	Start	End	E-Value	Type
BTB	34	131	5.01e-30	SMART
low complexity region	195	205	N/A	INTRINSIC
low complexity region	215	232	N/A	INTRINSIC
low complexity region	245	261	N/A	INTRINSIC
low complexity region	267	289	N/A	INTRINSIC
low complexity region	297	314	N/A	INTRINSIC
ZnF_C2H2	376	398	7.55e-1	SMART
ZnF_C2H2	404	426	2.79e-4	SMART
ZnF_C2H2	432	454	1.58e-3	SMART
ZnF_C2H2	460	480	5.4e1	SMART
low complexity region	486	519	N/A	INTRINSIC
low complexity region	528	535	N/A	INTRINSIC
low complexity region	546	563	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000121840

SMART Domains

Protein: ENSMUSP00000113787
Gene: ENSMUSG00000035011

Domain	Start	End	E-Value	Type
BTB	34	131	5.01e-30	SMART
low complexity region	195	205	N/A	INTRINSIC
low complexity region	215	232	N/A	INTRINSIC
low complexity region	245	261	N/A	INTRINSIC
low complexity region	267	289	N/A	INTRINSIC
low complexity region	297	314	N/A	INTRINSIC
ZnF_C2H2	376	398	7.55e-1	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000134017

Predicted Effect

probably benign
Transcript: ENSMUST00000135765

SMART Domains

Protein: ENSMUSP00000121361
Gene: ENSMUSG00000004934

Domain	Start	End	E-Value	Type
PDB:4FO9\|A	1	70	9e-15	PDB

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000147436

Coding Region Coverage

Validation Efficiency

MGI Phenotype

PHENOTYPE: Homozygous null mutants display mild postnatal lethality or a normal phenotype depending on strain background. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 54 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acp6	G	A	3: 97,073,288 (GRCm39)		probably null	Het
Aida	T	A	1: 183,094,618 (GRCm39)	Y104*	probably null	Het
Cd300lg	T	C	11: 101,937,901 (GRCm39)	S244P	probably benign	Het
Ces4a	T	A	8: 105,873,806 (GRCm39)	L425Q	probably damaging	Het
Chrnb3	T	C	8: 27,884,202 (GRCm39)	V298A	probably damaging	Het
Cnot6	A	C	11: 49,568,131 (GRCm39)	F486C	probably damaging	Het
Ctnna3	A	G	10: 64,708,949 (GRCm39)	T663A	probably benign	Het
Cyp2j12	T	A	4: 96,003,814 (GRCm39)	K267N	possibly damaging	Het
Dclre1a	A	T	19: 56,535,489 (GRCm39)	Y32N	probably damaging	Het
Ddx21	A	G	10: 62,423,270 (GRCm39)	I644T	probably damaging	Het
Epha6	A	C	16: 59,659,666 (GRCm39)	N817K	probably benign	Het
Ercc6l2	T	A	13: 63,967,566 (GRCm39)	Y55*	probably null	Het
Esyt1	A	G	10: 128,358,181 (GRCm39)	I183T	possibly damaging	Het
Exoc8	T	C	8: 125,622,967 (GRCm39)	T467A	probably benign	Het
Fance	T	C	17: 28,541,753 (GRCm39)		probably benign	Het
Fbxo46	C	T	7: 18,870,235 (GRCm39)	R285W	probably damaging	Het
Ffar2	A	T	7: 30,519,012 (GRCm39)	V176E	probably damaging	Het
Fnbp1l	T	C	3: 122,362,398 (GRCm39)		probably null	Het
Gm10288	T	C	3: 146,544,565 (GRCm39)		noncoding transcript	Het
Gm12588	T	A	11: 121,798,777 (GRCm39)			Het
Gm9755	G	A	8: 67,967,885 (GRCm39)		noncoding transcript	Het
Gpr33	A	T	12: 52,070,343 (GRCm39)	M232K	probably damaging	Het
Haus5	A	T	7: 30,362,719 (GRCm39)		probably benign	Het
Ilvbl	A	G	10: 78,413,167 (GRCm39)		probably benign	Het
Kifap3	G	A	1: 163,623,618 (GRCm39)		probably benign	Het
Klhl26	T	C	8: 70,904,533 (GRCm39)	Y378C	probably damaging	Het
Lama4	G	A	10: 38,936,209 (GRCm39)	S628N	probably benign	Het
Lamc3	G	A	2: 31,788,290 (GRCm39)	R150H	probably damaging	Het
Mrgprx2	A	T	7: 48,132,439 (GRCm39)	C126*	probably null	Het
Myo3a	A	T	2: 22,428,137 (GRCm39)	D798V	probably damaging	Het
Ndufs1	A	T	1: 63,190,716 (GRCm39)	L44Q	probably damaging	Het
Nfrkb	G	T	9: 31,314,755 (GRCm39)	R525L	probably benign	Het
Or10ag58	T	A	2: 87,265,229 (GRCm39)	C133S	probably damaging	Het
Or1e34	T	C	11: 73,778,753 (GRCm39)	I148M	probably benign	Het
Or2p2	T	C	13: 21,257,075 (GRCm39)	Y132C	probably damaging	Het
Or2r11	T	C	6: 42,437,474 (GRCm39)	T160A	probably benign	Het
Or4k41	T	C	2: 111,280,234 (GRCm39)	F250L	probably benign	Het
Or4q3	A	G	14: 50,583,641 (GRCm39)	M86T	probably benign	Het
Or5w1	A	G	2: 87,486,773 (GRCm39)	F164S	probably damaging	Het
Or8g17	T	A	9: 38,930,214 (GRCm39)	I208F	probably benign	Het
Or9r7	G	T	10: 129,962,860 (GRCm39)	T22K	probably benign	Het
Pkhd1	G	A	1: 20,604,857 (GRCm39)	Q1153*	probably null	Het
Pon1	C	A	6: 5,175,760 (GRCm39)	W254C	probably damaging	Het
Prr14	A	G	7: 127,074,939 (GRCm39)	T447A	probably benign	Het
Serpinb9g	T	A	13: 33,679,088 (GRCm39)	C319*	probably null	Het
Slc9c1	A	T	16: 45,403,335 (GRCm39)	M801L	probably benign	Het
Tenm4	C	T	7: 96,202,931 (GRCm39)	T182M	probably damaging	Het
Ubr4	T	A	4: 139,135,107 (GRCm39)	L813Q	probably damaging	Het
Uimc1	T	C	13: 55,176,517 (GRCm39)	E667G	probably benign	Het
Unc79	A	G	12: 103,134,546 (GRCm39)	T2173A	probably benign	Het
Unkl	T	C	17: 25,429,822 (GRCm39)	S142P	probably benign	Het
Vezt	A	G	10: 93,832,859 (GRCm39)	V204A	probably benign	Het
Vps53	A	T	11: 75,953,860 (GRCm39)	I402N	probably damaging	Het
Zfyve9	T	C	4: 108,499,289 (GRCm39)	D1343G	probably damaging	Het

Other mutations in Pias4

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01790:Pias4	APN	10	80,993,332 (GRCm39)	missense	probably damaging	0.98
IGL02553:Pias4	APN	10	80,999,621 (GRCm39)	missense	probably damaging	1.00
IGL02670:Pias4	APN	10	80,999,904 (GRCm39)	missense	probably damaging	0.99
R0083:Pias4	UTSW	10	81,000,000 (GRCm39)	missense	probably damaging	1.00
R0122:Pias4	UTSW	10	80,992,921 (GRCm39)	missense	probably damaging	0.96
R0711:Pias4	UTSW	10	80,993,364 (GRCm39)	unclassified	probably benign
R1399:Pias4	UTSW	10	80,991,509 (GRCm39)	missense	probably damaging	1.00
R1726:Pias4	UTSW	10	80,991,689 (GRCm39)	missense	probably damaging	1.00
R1907:Pias4	UTSW	10	80,990,197 (GRCm39)	missense	possibly damaging	0.46
R3730:Pias4	UTSW	10	80,999,888 (GRCm39)	missense	probably damaging	0.98
R4764:Pias4	UTSW	10	80,999,868 (GRCm39)	missense	possibly damaging	0.88
R4790:Pias4	UTSW	10	80,993,326 (GRCm39)	missense	probably damaging	0.98
R4808:Pias4	UTSW	10	80,991,674 (GRCm39)	splice site	probably null
R6351:Pias4	UTSW	10	80,993,098 (GRCm39)	missense	probably damaging	1.00
R6786:Pias4	UTSW	10	80,993,080 (GRCm39)	missense	probably damaging	1.00
R7113:Pias4	UTSW	10	80,990,287 (GRCm39)	missense	possibly damaging	0.94
R7260:Pias4	UTSW	10	80,993,302 (GRCm39)	missense	possibly damaging	0.95
R7487:Pias4	UTSW	10	80,999,806 (GRCm39)	missense	probably benign
R7609:Pias4	UTSW	10	80,993,860 (GRCm39)	splice site	probably null
R8224:Pias4	UTSW	10	81,003,565 (GRCm39)	start gained	probably benign
R8387:Pias4	UTSW	10	80,990,342 (GRCm39)	missense	probably benign
R8443:Pias4	UTSW	10	80,992,844 (GRCm39)	critical splice donor site	probably null
R8794:Pias4	UTSW	10	80,999,846 (GRCm39)	missense	probably damaging	1.00
R9319:Pias4	UTSW	10	80,991,750 (GRCm39)	missense	unknown

Posted On

2014-01-21