Mutagenetix > Incidental Mutation

Incidental Mutation 'R3730:Pias4'

270937

Institutional Source

Beutler Lab

Gene Symbol

Pias4

Ensembl Gene

ENSMUSG00000004934

Gene Name

protein inhibitor of activated STAT 4

Synonyms

PIASy

Accession Numbers

Essential gene?

Probably essential (E-score: 0.903) question?

Stock #

R3730 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

80989795-81003554 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 80999888 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Tyrosine at position 55 (F55Y)

Ref Sequence

ENSEMBL: ENSMUSP00000005064 (fasta)

Gene Model

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

AlphaFold

Q9JM05

Predicted Effect

probably damaging
Transcript: ENSMUST00000005064
AA Change: F55Y

PolyPhen 2 Score 0.984 (Sensitivity: 0.74; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000005064
Gene: ENSMUSG00000004934
AA Change: F55Y

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

noncoding transcript
Transcript: ENSMUST00000129549

Predicted Effect

probably damaging
Transcript: ENSMUST00000146764
AA Change: F55Y

PolyPhen 2 Score 0.961 (Sensitivity: 0.78; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000122183
Gene: ENSMUSG00000004934
AA Change: F55Y

Domain	Start	End	E-Value	Type
SAP	12	46	4.44e-7	SMART
Pfam:PINIT	119	270	1.8e-43	PFAM

Coding Region Coverage

1x: 99.0%
3x: 98.3%
10x: 96.2%
20x: 90.5%

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: 47 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A830018L16Rik	A	G	1: 11,615,450 (GRCm39)	N141S	probably damaging	Het
Acbd6	T	A	1: 155,434,471 (GRCm39)	S30T	probably benign	Het
Acot12	T	A	13: 91,908,145 (GRCm39)	F109Y	possibly damaging	Het
Adamts19	G	A	18: 59,033,982 (GRCm39)	R319Q	probably damaging	Het
Akap1	T	C	11: 88,736,008 (GRCm39)	E218G	possibly damaging	Het
Atg4b	T	A	1: 93,695,997 (GRCm39)	D45E	probably damaging	Het
Atoh1	A	G	6: 64,706,557 (GRCm39)	E84G	probably benign	Het
Cemip2	A	G	19: 21,803,481 (GRCm39)	Y838C	probably damaging	Het
Cfap251	A	T	5: 123,464,631 (GRCm39)	I1280L	possibly damaging	Het
Cfap54	A	T	10: 92,847,335 (GRCm39)	Y951*	probably null	Het
Col4a4	T	A	1: 82,433,472 (GRCm39)		probably null	Het
Crlf1	A	G	8: 70,952,092 (GRCm39)	T95A	probably benign	Het
Cyp3a25	G	A	5: 145,939,891 (GRCm39)	P39S	probably damaging	Het
Dhx9	C	A	1: 153,353,866 (GRCm39)	A186S	probably benign	Het
Dusp16	A	G	6: 134,695,824 (GRCm39)	S336P	probably benign	Het
Fcgbp	T	C	7: 27,784,882 (GRCm39)	V314A	possibly damaging	Het
Focad	T	C	4: 88,327,162 (GRCm39)	I157T	possibly damaging	Het
Frem3	A	T	8: 81,342,545 (GRCm39)	T1613S	probably damaging	Het
Fshr	C	T	17: 89,309,143 (GRCm39)	V222I	probably benign	Het
Galnt13	A	G	2: 54,823,519 (GRCm39)	N365S	possibly damaging	Het
Hjurp	GT	GTT	1: 88,194,246 (GRCm39)		probably null	Het
Ice1	A	T	13: 70,751,359 (GRCm39)	S1576T	probably damaging	Het
Ighv1-19	C	A	12: 114,672,497 (GRCm39)	C40F	probably damaging	Het
Itga8	T	C	2: 12,198,321 (GRCm39)	T555A	possibly damaging	Het
Kctd5	T	C	17: 24,278,212 (GRCm39)	D146G	probably benign	Het
Ktn1	A	G	14: 47,938,606 (GRCm39)	E766G	probably damaging	Het
Ldlr	C	G	9: 21,643,097 (GRCm39)	A41G	probably benign	Het
Lrp2	G	A	2: 69,294,923 (GRCm39)	P3465L	probably damaging	Het
Lrp2	A	T	2: 69,365,251 (GRCm39)		probably null	Het
Mapk11	G	A	15: 89,029,318 (GRCm39)	A248V	probably benign	Het
Mroh2a	GCCC	GC	1: 88,159,979 (GRCm39)		probably null	Het
Mslnl	G	A	17: 25,961,908 (GRCm39)	V128M	probably damaging	Het
Npr2	T	C	4: 43,640,999 (GRCm39)	S402P	possibly damaging	Het
Olfm2	T	C	9: 20,584,063 (GRCm39)	N76D	probably damaging	Het
Or7g33	T	A	9: 19,448,447 (GRCm39)	I260F	probably benign	Het
Or8k3	A	G	2: 86,059,195 (GRCm39)	I40T	probably benign	Het
Rgs12	G	A	5: 35,189,595 (GRCm39)	E658K	probably damaging	Het
Ripor3	C	G	2: 167,834,739 (GRCm39)	E251Q	probably damaging	Het
Shroom3	G	T	5: 93,090,945 (GRCm39)	V1151F	probably damaging	Het
Slc16a10	G	C	10: 39,932,620 (GRCm39)	H314D	possibly damaging	Het
Slc35e4	A	G	11: 3,862,577 (GRCm39)	V204A	possibly damaging	Het
Syt4	T	C	18: 31,577,189 (GRCm39)	H55R	probably damaging	Het
Trim46	T	A	3: 89,142,256 (GRCm39)	T721S	probably benign	Het
Usf3	G	T	16: 44,038,938 (GRCm39)	L1139F	probably benign	Het
Xrn2	A	T	2: 146,866,729 (GRCm39)	M100L	probably benign	Het
Zbtb33	C	A	X: 37,281,822 (GRCm39)	N243K	probably benign	Het
Zfp960	T	A	17: 17,308,633 (GRCm39)	L449H	probably damaging	Het

Other mutations in Pias4

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01655:Pias4	APN	10	80,991,492 (GRCm39)	missense	probably benign	0.07
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
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

Predicted Primers

PCR Primer
(F):5'- GCCCCAGTCCATTCAAGTAC -3'
(R):5'- CAGCACTCATAGGAAGCAGG -3'

Sequencing Primer
(F):5'- AGTCCATTCAAGTACTTCCCG -3'
(R):5'- GATTAGAGGATCACACCCCTGAG -3'

Posted On

2015-03-18