Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02525:Pstk'

297039

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Pstk

Ensembl Gene

ENSMUSG00000063179

Gene Name

phosphoseryl-tRNA kinase

Synonyms

5430423O14Rik, LOC381976, 5730458D16Rik

Accession Numbers

Essential gene?

Probably essential (E-score: 0.913) question?

Stock #

IGL02525

Quality Score

Status

Chromosome

Chromosomal Location

130972843-130994497 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 130972922 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Leucine at position 7 (R7L)

Ref Sequence

ENSEMBL: ENSMUSP00000118636 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000075610] [ENSMUST00000124096] [ENSMUST00000141914] [ENSMUST00000145114]

AlphaFold

Q8BP74

Predicted Effect

probably benign
Transcript: ENSMUST00000075610
AA Change: R7L

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000075037
Gene: ENSMUSG00000063179
AA Change: R7L

Domain	Start	End	E-Value	Type
low complexity region	3	12	N/A	INTRINSIC
Pfam:AAA_33	20	213	2.7e-11	PFAM
Pfam:KTI12	136	345	3.7e-19	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000124096

SMART Domains

Protein: ENSMUSP00000130971
Gene: ENSMUSG00000030849

Domain	Start	End	E-Value	Type
Pfam:Pkinase	1	118	4.8e-19	PFAM
Pfam:Pkinase_Tyr	1	118	1.7e-50	PFAM
low complexity region	146	160	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000124672

Predicted Effect

probably benign
Transcript: ENSMUST00000128092

Predicted Effect

probably benign
Transcript: ENSMUST00000141914
AA Change: R7L

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

Predicted Effect

probably benign
Transcript: ENSMUST00000145114
AA Change: R7L

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000118636
Gene: ENSMUSG00000063179
AA Change: R7L

Domain	Start	End	E-Value	Type
low complexity region	3	12	N/A	INTRINSIC
Pfam:KTI12	18	88	5.6e-8	PFAM
Pfam:AAA_17	20	212	3.2e-8	PFAM
Pfam:AAA_33	20	213	2.2e-13	PFAM
Pfam:KTI12	136	265	1.6e-16	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000207419

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000207933

Predicted Effect

probably benign
Transcript: ENSMUST00000207489

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 69 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam18	C	T	8: 25,101,060 (GRCm39)	V701I	probably benign	Het
Adam18	A	G	8: 25,131,783 (GRCm39)		probably benign	Het
Adamts20	G	T	15: 94,180,959 (GRCm39)		probably null	Het
Adgrf5	G	T	17: 43,760,854 (GRCm39)	V850F	probably damaging	Het
Agap2	T	A	10: 126,919,070 (GRCm39)		probably null	Het
Ap4b1	G	A	3: 103,720,164 (GRCm39)	R62K	probably damaging	Het
Atp2a3	C	A	11: 72,866,165 (GRCm39)	H262N	probably benign	Het
Ccdc12	T	A	9: 110,540,169 (GRCm39)	D120E	probably damaging	Het
Ccdc22	A	G	X: 7,461,249 (GRCm39)	S529P	probably damaging	Het
Cilk1	A	G	9: 78,067,675 (GRCm39)	K390E	probably benign	Het
Col1a2	A	G	6: 4,531,355 (GRCm39)		probably benign	Het
Ddx59	A	T	1: 136,344,743 (GRCm39)	Q138L	probably benign	Het
Dlc1	A	T	8: 37,046,800 (GRCm39)	F1091L	probably damaging	Het
Dnah1	C	T	14: 31,027,790 (GRCm39)	V682M	probably benign	Het
Dock9	C	T	14: 121,877,538 (GRCm39)	D404N	probably damaging	Het
Eif2b4	A	G	5: 31,346,962 (GRCm39)	V402A	probably damaging	Het
Erlin1	T	C	19: 44,027,634 (GRCm39)	H268R	probably benign	Het
Ermard	T	C	17: 15,279,601 (GRCm39)		probably benign	Het
Fam43a	A	G	16: 30,419,596 (GRCm39)	K60R	probably benign	Het
Frmd4b	T	A	6: 97,389,494 (GRCm39)	D78V	probably damaging	Het
Gabrq	A	G	X: 71,880,430 (GRCm39)	T308A	possibly damaging	Het
Gipr	A	G	7: 18,893,690 (GRCm39)	C328R	possibly damaging	Het
Gm17078	T	C	14: 51,848,680 (GRCm39)	N19S	possibly damaging	Het
Gm17541	T	C	12: 4,739,907 (GRCm39)		probably benign	Het
Gm21759	T	C	5: 8,229,967 (GRCm39)		probably benign	Het
Gm7964	A	G	7: 83,405,250 (GRCm39)		noncoding transcript	Het
Gspt1	A	G	16: 11,048,854 (GRCm39)	V318A	probably damaging	Het
Gtf2ird2	A	G	5: 134,245,319 (GRCm39)	S526G	probably benign	Het
Hey2	A	G	10: 30,718,643 (GRCm39)	M1T	probably null	Het
Hipk3	T	C	2: 104,301,757 (GRCm39)	D145G	probably damaging	Het
Itgae	A	G	11: 73,021,777 (GRCm39)	D886G	probably damaging	Het
Ktn1	T	A	14: 47,962,200 (GRCm39)		probably null	Het
Med12l	A	G	3: 58,975,789 (GRCm39)	K239R	probably benign	Het
Milr1	A	T	11: 106,656,101 (GRCm39)	M124L	probably benign	Het
Mon1b	G	T	8: 114,365,455 (GRCm39)	R261L	possibly damaging	Het
Mterf1a	G	A	5: 3,941,583 (GRCm39)	S95F	probably benign	Het
Myef2	C	A	2: 124,955,978 (GRCm39)		probably benign	Het
Nfrkb	T	A	9: 31,325,812 (GRCm39)	I1085N	possibly damaging	Het
Or13f5	A	T	4: 52,825,616 (GRCm39)	Y73F	probably damaging	Het
Or8d2	T	A	9: 38,759,536 (GRCm39)	M42K	possibly damaging	Het
Prodh	G	A	16: 17,890,332 (GRCm39)	Q430*	probably null	Het
Ptgr1	C	A	4: 58,978,067 (GRCm39)	E108D	probably benign	Het
Ptpn9	T	A	9: 56,944,009 (GRCm39)	Y294*	probably null	Het
Rnls	C	T	19: 33,115,614 (GRCm39)	V153M	possibly damaging	Het
Ros1	T	C	10: 51,992,138 (GRCm39)	T1362A	possibly damaging	Het
Samt3	G	A	X: 85,090,527 (GRCm39)	A140T	possibly damaging	Het
Sbpl	T	A	17: 24,173,837 (GRCm39)	M16L	unknown	Het
Sephs1	G	A	2: 4,911,407 (GRCm39)	C327Y	probably damaging	Het
Slc13a1	A	T	6: 24,137,135 (GRCm39)	I93N	probably damaging	Het
Slc34a1	T	C	13: 55,551,051 (GRCm39)		probably benign	Het
Slc7a9	T	C	7: 35,152,860 (GRCm39)	S93P	probably damaging	Het
Slx4	A	G	16: 3,798,461 (GRCm39)	S1444P	probably damaging	Het
Spmap2l	T	A	5: 77,164,400 (GRCm39)	D134E	probably benign	Het
Stk32b	C	T	5: 37,688,977 (GRCm39)	V116M	probably damaging	Het
Supt5	A	G	7: 28,018,372 (GRCm39)		probably benign	Het
Syne2	T	A	12: 76,147,777 (GRCm39)	S6439T	probably damaging	Het
Taar7d	A	G	10: 23,903,994 (GRCm39)	D292G	possibly damaging	Het
Tal2	A	T	4: 53,785,971 (GRCm39)	I51F	probably damaging	Het
Tk2	A	T	8: 104,970,032 (GRCm39)	N77K	probably benign	Het
Tmprss3	T	A	17: 31,413,865 (GRCm39)		probably benign	Het
Tnfrsf10b	T	C	14: 70,019,825 (GRCm39)	M319T	probably damaging	Het
Trim24	A	G	6: 37,922,653 (GRCm39)	R417G	probably damaging	Het
Ttn	C	A	2: 76,594,658 (GRCm39)	G18717*	probably null	Het
Vmn2r102	A	G	17: 19,901,447 (GRCm39)	T525A	probably benign	Het
Wdr38	A	T	2: 38,888,424 (GRCm39)	N7I	probably damaging	Het
Wnt3	C	T	11: 103,703,296 (GRCm39)	R260W	probably damaging	Het
Xdh	T	A	17: 74,231,990 (GRCm39)	Q240L	possibly damaging	Het
Zbtb5	T	C	4: 44,994,731 (GRCm39)	T218A	probably benign	Het
Znfx1	C	T	2: 166,879,457 (GRCm39)	E776K	probably benign	Het

Other mutations in Pstk

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
R1631:Pstk	UTSW	7	130,986,271 (GRCm39)	missense	possibly damaging	0.73
R1869:Pstk	UTSW	7	130,989,526 (GRCm39)	missense	probably damaging	1.00
R5634:Pstk	UTSW	7	130,973,072 (GRCm39)	missense	probably damaging	1.00
R5730:Pstk	UTSW	7	130,975,503 (GRCm39)	missense	probably damaging	0.99
R7474:Pstk	UTSW	7	130,975,362 (GRCm39)	missense	probably benign	0.01
R8725:Pstk	UTSW	7	130,973,024 (GRCm39)	missense	possibly damaging	0.87
R8727:Pstk	UTSW	7	130,973,024 (GRCm39)	missense	possibly damaging	0.87

Posted On

2015-04-16