Mutagenetix > Incidental Mutation

Incidental Mutation 'R4738:Psph'

359419

Institutional Source

Beutler Lab

Gene Symbol

Psph

Ensembl Gene

ENSMUSG00000029446

Gene Name

phosphoserine phosphatase

Synonyms

PSPase

MMRRC Submission

041964-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R4738 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

129842622-129864318 bp(-) (GRCm39)

Type of Mutation

critical splice acceptor site

DNA Base Change (assembly)

T to C at 129846450 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000144667 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000031399] [ENSMUST00000118268] [ENSMUST00000136507] [ENSMUST00000201394] [ENSMUST00000201394]

AlphaFold

Q99LS3

Predicted Effect

probably null
Transcript: ENSMUST00000031399

SMART Domains

Protein: ENSMUSP00000031399
Gene: ENSMUSG00000029446

Domain	Start	End	E-Value	Type
Pfam:Hydrolase	14	191	5.7e-19	PFAM
Pfam:HAD	17	187	4e-13	PFAM
Pfam:UMPH-1	62	192	5.4e-9	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000118268

SMART Domains

Protein: ENSMUSP00000113671
Gene: ENSMUSG00000029446

Domain	Start	End	E-Value	Type
PDB:1L8O\|B	1	94	1e-55	PDB
SCOP:d1j97a_	15	92	2e-9	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000136280

Predicted Effect

probably benign
Transcript: ENSMUST00000136507

SMART Domains

Protein: ENSMUSP00000116292
Gene: ENSMUSG00000029446

Domain	Start	End	E-Value	Type
PDB:1NNL\|B	1	59	1e-32	PDB
SCOP:d1j97a_	15	58	2e-7	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000201022

Predicted Effect

probably null
Transcript: ENSMUST00000201394

SMART Domains

Protein: ENSMUSP00000144667
Gene: ENSMUSG00000029446

Domain	Start	End	E-Value	Type
Pfam:Hydrolase	14	113	4.5e-6	PFAM

Predicted Effect

probably null
Transcript: ENSMUST00000201394

SMART Domains

Protein: ENSMUSP00000144667
Gene: ENSMUSG00000029446

Domain	Start	End	E-Value	Type
Pfam:Hydrolase	14	113	4.5e-6	PFAM

Coding Region Coverage

1x: 99.1%
3x: 98.4%
10x: 96.9%
20x: 94.3%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene belongs to a subfamily of the phosphotransferases. This encoded enzyme is responsible for the third and last step in L-serine formation. It catalyzes magnesium-dependent hydrolysis of L-phosphoserine and is also involved in an exchange reaction between L-serine and L-phosphoserine. Deficiency of this protein is thought to be linked to Williams syndrome. [provided by RefSeq, Jul 2008]

Allele List at MGI

Other mutations in this stock

Total: 81 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcg3	A	G	5: 105,121,849 (GRCm39)	I176T	probably benign	Het
Abtb3	C	T	10: 85,463,112 (GRCm39)	Q626*	probably null	Het
Angpt2	C	T	8: 18,791,075 (GRCm39)	D74N	probably benign	Het
Apol10a	C	T	15: 77,372,841 (GRCm39)	T159I	possibly damaging	Het
Areg	T	C	5: 91,294,583 (GRCm39)	I247T	possibly damaging	Het
Atg16l2	A	G	7: 100,946,385 (GRCm39)	L129P	probably damaging	Het
Atp6v1b2	T	A	8: 69,556,062 (GRCm39)	S246T	probably benign	Het
Atp8b1	T	C	18: 64,678,251 (GRCm39)	R882G	probably benign	Het
Atp9a	A	G	2: 168,510,101 (GRCm39)	V444A	probably benign	Het
Babam2	T	A	5: 32,058,486 (GRCm39)	Y211N	probably damaging	Het
Ccdc127	T	G	13: 74,505,187 (GRCm39)		probably benign	Het
Cep192	A	T	18: 68,017,901 (GRCm39)	K2500*	probably null	Het
Cnot4	T	C	6: 35,028,311 (GRCm39)	N435S	probably benign	Het
Col12a1	T	C	9: 79,606,564 (GRCm39)	I620V	probably damaging	Het
Cyth4	G	A	15: 78,490,074 (GRCm39)	M62I	probably benign	Het
Dbt	T	C	3: 116,332,781 (GRCm39)	I200T	probably damaging	Het
Dchs1	C	T	7: 105,407,880 (GRCm39)	R1984Q	probably damaging	Het
Depdc5	A	G	5: 33,132,666 (GRCm39)	M1237V	probably benign	Het
Disp2	A	G	2: 118,620,807 (GRCm39)	Y513C	probably damaging	Het
Dph7	T	C	2: 24,853,143 (GRCm39)	S86P	possibly damaging	Het
Eif3b	T	A	5: 140,415,833 (GRCm39)	M384K	probably benign	Het
Emc1	G	T	4: 139,089,513 (GRCm39)	G227V	possibly damaging	Het
Eri2	A	G	7: 119,386,955 (GRCm39)		probably null	Het
Frzb	A	G	2: 80,254,941 (GRCm39)		probably null	Het
Ganc	T	A	2: 120,283,075 (GRCm39)	V743D	probably damaging	Het
Gfpt1	C	A	6: 87,031,729 (GRCm39)		probably benign	Het
Gm3086	A	T	12: 70,016,155 (GRCm39)		probably benign	Het
Gsdmc2	A	T	15: 63,698,650 (GRCm39)	Y315*	probably null	Het
Haus6	A	G	4: 86,518,986 (GRCm39)		probably null	Het
Hhip	C	T	8: 80,719,199 (GRCm39)	D443N	probably damaging	Het
Isg15	T	C	4: 156,284,319 (GRCm39)	M70V	probably benign	Het
Kank2	T	C	9: 21,685,915 (GRCm39)	N653S	probably damaging	Het
Klhdc1	G	T	12: 69,329,907 (GRCm39)	R345S	probably benign	Het
Larp7	A	G	3: 127,339,694 (GRCm39)		probably null	Het
Lgals12	A	G	19: 7,581,464 (GRCm39)	V81A	probably benign	Het
Lhx9	A	G	1: 138,760,486 (GRCm39)	L288P	probably damaging	Het
Mcpt9	T	A	14: 56,264,456 (GRCm39)	H213L	probably damaging	Het
Met	T	C	6: 17,491,540 (GRCm39)	C101R	probably damaging	Het
Myo16	G	T	8: 10,423,527 (GRCm39)	G288W	probably damaging	Het
Neb	A	C	2: 52,077,494 (GRCm39)	S1846A	probably damaging	Het
Nr3c2	T	C	8: 77,635,936 (GRCm39)	S346P	possibly damaging	Het
Obi1	C	T	14: 104,747,819 (GRCm39)	D43N	probably damaging	Het
Or10h5	A	G	17: 33,434,784 (GRCm39)	F178S	probably benign	Het
Or1e1c	G	T	11: 73,266,176 (GRCm39)	L200F	possibly damaging	Het
Or51e1	T	A	7: 102,359,378 (GRCm39)	I304N	probably damaging	Het
Or5h19	T	C	16: 58,856,558 (GRCm39)	I181V	probably benign	Het
Or5p63	A	T	7: 107,811,201 (GRCm39)	N178K	probably damaging	Het
Osbpl10	A	G	9: 115,045,642 (GRCm39)	E426G	probably damaging	Het
Ovgp1	T	C	3: 105,887,234 (GRCm39)	V210A	probably damaging	Het
Pam	A	T	1: 97,850,857 (GRCm39)	V167D	probably damaging	Het
Pappa2	T	C	1: 158,784,582 (GRCm39)	R143G	probably benign	Het
Pbx4	C	T	8: 70,317,619 (GRCm39)	T201M	probably damaging	Het
Pcdhb9	T	C	18: 37,536,468 (GRCm39)	C821R	probably benign	Het
Plekhg3	T	C	12: 76,623,688 (GRCm39)	I976T	probably damaging	Het
Pold1	G	A	7: 44,190,753 (GRCm39)	R304C	probably damaging	Het
Prss38	T	C	11: 59,263,771 (GRCm39)	T314A	probably benign	Het
Ptprj	G	A	2: 90,270,987 (GRCm39)	P1247L	probably damaging	Het
Rab3gap1	A	G	1: 127,862,173 (GRCm39)	E648G	probably damaging	Het
Ralgds	A	G	2: 28,435,428 (GRCm39)	E465G	probably damaging	Het
Rfng	T	C	11: 120,674,790 (GRCm39)	T67A	probably damaging	Het
Rps6kl1	G	T	12: 85,187,161 (GRCm39)	F181L	probably benign	Het
Spata46	G	A	1: 170,139,455 (GRCm39)	M151I	possibly damaging	Het
Ssbp1	T	A	6: 40,454,914 (GRCm39)	N124K	probably damaging	Het
Sspo	C	T	6: 48,455,330 (GRCm39)	A3064V	possibly damaging	Het
Tbc1d8	G	A	1: 39,441,959 (GRCm39)	T211I	possibly damaging	Het
Tdpoz4	T	C	3: 93,704,396 (GRCm39)	I231T	probably damaging	Het
Tff3	G	A	17: 31,346,483 (GRCm39)	P30S	probably benign	Het
Thg1l	C	T	11: 45,845,018 (GRCm39)	R18Q	probably damaging	Het
Tlk2	T	A	11: 105,147,708 (GRCm39)	H369Q	probably benign	Het
Tnfaip8	A	G	18: 50,223,569 (GRCm39)	T14A	probably damaging	Het
Tspan17	T	A	13: 54,942,877 (GRCm39)	C116*	probably null	Het
Ttn	T	C	2: 76,710,890 (GRCm39)		probably benign	Het
Tyr	T	C	7: 87,141,855 (GRCm39)	Y158C	probably null	Het
U2af1l4	G	T	7: 30,262,773 (GRCm39)		probably benign	Het
Ubqlnl	C	T	7: 103,798,925 (GRCm39)	V191M	probably benign	Het
Vmn2r86	T	A	10: 130,282,939 (GRCm39)	D559V	probably damaging	Het
Wfikkn2	T	A	11: 94,129,902 (GRCm39)	T80S	probably benign	Het
Zdhhc2	T	A	8: 40,917,183 (GRCm39)		probably null	Het
Zfp521	T	C	18: 13,977,111 (GRCm39)	K1101E	possibly damaging	Het
Zfp595	A	T	13: 67,465,229 (GRCm39)	F345I	probably benign	Het
Zswim2	T	A	2: 83,745,739 (GRCm39)	R566S	probably benign	Het

Other mutations in Psph

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
R0121:Psph	UTSW	5	129,868,633 (GRCm39)	unclassified	probably benign
R0539:Psph	UTSW	5	129,843,641 (GRCm39)	unclassified	probably benign
R0650:Psph	UTSW	5	129,868,633 (GRCm39)	unclassified	probably benign
R1236:Psph	UTSW	5	129,848,540 (GRCm39)	missense	probably damaging	1.00
R1474:Psph	UTSW	5	129,848,614 (GRCm39)	missense	probably damaging	1.00
R1844:Psph	UTSW	5	129,843,532 (GRCm39)	missense	probably damaging	1.00
R2130:Psph	UTSW	5	129,864,603 (GRCm39)	splice site	probably null
R3857:Psph	UTSW	5	129,848,540 (GRCm39)	missense	probably damaging	1.00
R4300:Psph	UTSW	5	129,864,529 (GRCm39)	splice site	probably null
R4368:Psph	UTSW	5	129,848,654 (GRCm39)	missense	probably benign	0.00
R5306:Psph	UTSW	5	129,846,431 (GRCm39)	missense	probably damaging	1.00
R5859:Psph	UTSW	5	129,867,685 (GRCm39)	unclassified	probably benign
R6269:Psph	UTSW	5	129,843,529 (GRCm39)	missense	probably damaging	0.99
R7552:Psph	UTSW	5	129,847,800 (GRCm39)	missense	probably benign	0.01
R7593:Psph	UTSW	5	129,864,337 (GRCm39)	unclassified	probably benign
R9584:Psph	UTSW	5	129,847,752 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- ATGTAACTCTTAACTCCACCAGTC -3'
(R):5'- AATCTGACCAGCTACAAGTTCAG -3'

Sequencing Primer
(F):5'- AACTCTTAACTCCACCAGTCTTTAAG -3'
(R):5'- TCTGACCAGCTACAAGTTCAGTAAAG -3'

Posted On

2015-11-11