Mutagenetix > Incidental Mutation

Incidental Mutation 'R9319:Pias4'

706048

Institutional Source

Beutler Lab

Gene Symbol

Pias4

Ensembl Gene

ENSMUSG00000004934

Gene Name

protein inhibitor of activated STAT 4

Synonyms

PIASy

MMRRC Submission

Accession Numbers

Essential gene?

Probably essential (E-score: 0.903) question?

Stock #

R9319 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

80989795-81003554 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 80991750 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Proline to Serine at position 53 (P53S)

Ref Sequence

ENSEMBL: ENSMUSP00000121361 (fasta)

Gene Model

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

AlphaFold

Q9JM05

Predicted Effect

probably benign
Transcript: ENSMUST00000005064

SMART Domains

Protein: ENSMUSP00000005064
Gene: ENSMUSG00000004934

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

unknown
Transcript: ENSMUST00000135765
AA Change: P53S

SMART Domains

Protein: ENSMUSP00000121361
Gene: ENSMUSG00000004934
AA Change: P53S

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.5%
20x: 98.3%

Validation Efficiency

100% (48/48)

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
4930590J08Rik	A	G	6: 91,922,446 (GRCm39)	D811G	probably damaging	Het
Akap13	A	G	7: 75,258,836 (GRCm39)	T487A	probably benign	Het
Ankrd6	C	T	4: 32,806,324 (GRCm39)	S643N	probably benign	Het
Apcdd1	C	T	18: 63,055,731 (GRCm39)		probably benign	Het
Camk2b	G	T	11: 5,927,814 (GRCm39)	P489Q	probably benign	Het
Cd22	T	A	7: 30,569,329 (GRCm39)	N596Y	probably damaging	Het
Chst13	G	A	6: 90,286,506 (GRCm39)	P152L	probably damaging	Het
Cobl	A	T	11: 12,203,648 (GRCm39)	V1018E	probably benign	Het
Cttn	T	C	7: 144,017,100 (GRCm39)	E34G	probably damaging	Het
Dhx15	G	A	5: 52,342,193 (GRCm39)	R42*	probably null	Het
Dlgap4	G	T	2: 156,546,514 (GRCm39)	R394L	possibly damaging	Het
Dlst	G	T	12: 85,170,585 (GRCm39)	R238L	probably damaging	Het
Dnah7c	A	G	1: 46,521,168 (GRCm39)	E232G	possibly damaging	Het
Dsg1b	C	T	18: 20,531,004 (GRCm39)	Q452*	probably null	Het
Elovl3	A	G	19: 46,122,507 (GRCm39)	T102A	possibly damaging	Het
Epas1	A	G	17: 87,104,545 (GRCm39)	S10G	possibly damaging	Het
Fads2b	G	A	2: 85,320,757 (GRCm39)	R349C	probably damaging	Het
Fanca	T	C	8: 124,018,190 (GRCm39)	I613V	probably benign	Het
Fat1	T	A	8: 45,406,060 (GRCm39)	V937D	probably damaging	Het
Glipr1l1	G	T	10: 111,898,122 (GRCm39)	A76S	probably damaging	Het
Ino80	T	C	2: 119,205,005 (GRCm39)	D1507G	probably benign	Het
Ipo13	T	C	4: 117,769,585 (GRCm39)	D69G	probably benign	Het
Kif2c	T	C	4: 117,035,445 (GRCm39)		probably null	Het
Lrrc61	C	A	6: 48,545,228 (GRCm39)	T17K	probably damaging	Het
Ltk	C	A	2: 119,590,096 (GRCm39)	E43D	probably benign	Het
Mcm3ap	A	G	10: 76,318,638 (GRCm39)	T720A	probably damaging	Het
Mcoln2	T	A	3: 145,875,691 (GRCm39)	V81D	probably damaging	Het
Mturn	T	A	6: 54,658,780 (GRCm39)	V9D	probably benign	Het
Nrg1	T	C	8: 32,323,204 (GRCm39)	D249G	probably benign	Het
Ntng2	T	C	2: 29,091,121 (GRCm39)		probably benign	Het
Odad3	T	C	9: 21,906,203 (GRCm39)	D245G	probably damaging	Het
Pax3	T	A	1: 78,080,079 (GRCm39)	M436L	probably benign	Het
Pkhd1l1	C	T	15: 44,392,974 (GRCm39)	R1770C	possibly damaging	Het
Plk1	C	A	7: 121,768,122 (GRCm39)	D447E	probably damaging	Het
Rsph10b	A	C	5: 143,903,337 (GRCm39)	M611L	probably benign	Het
Scart1	C	T	7: 139,807,940 (GRCm39)	P704S	possibly damaging	Het
Snrnp40	T	C	4: 130,256,545 (GRCm39)	L90P	possibly damaging	Het
Snu13	T	C	15: 81,928,218 (GRCm39)	T2A	probably benign	Het
Sptlc3	C	T	2: 139,478,730 (GRCm39)	A563V	possibly damaging	Het
Thap1	CAGCATCTGCTCGGAGCA	CAGCA	8: 26,650,884 (GRCm39)		probably null	Het
Tmx3	A	G	18: 90,558,068 (GRCm39)	I373M	probably benign	Het
Tpbg	C	T	9: 85,725,991 (GRCm39)		probably benign	Het
Troap	T	C	15: 98,975,444 (GRCm39)	I176T	probably benign	Het
Trpm2	G	A	10: 77,778,776 (GRCm39)	Q397*	probably null	Het
Trpm2	A	T	10: 77,785,032 (GRCm39)	V196E	probably damaging	Het
Vac14	T	A	8: 111,361,018 (GRCm39)	I196N	probably damaging	Het
Vmn2r71	C	T	7: 85,273,694 (GRCm39)	P836L	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
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

Predicted Primers

PCR Primer
(F):5'- ATCAAAGCACTGCAGGTGTG -3'
(R):5'- AGCAAACCCTCAGCAGGTATG -3'

Sequencing Primer
(F):5'- AGAGGCGCATCTTCACCAG -3'
(R):5'- TCAGCAGGTATGGGAGCC -3'

Posted On

2022-03-25