Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02279:Gdpd1'

289783

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Gdpd1

Ensembl Gene

ENSMUSG00000061666

Gene Name

glycerophosphodiester phosphodiesterase domain containing 1

Synonyms

2610020H15Rik

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.088) question?

Stock #

IGL02279

Quality Score

Status

Chromosome

Chromosomal Location

86924693-86964888 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 86964727 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Cysteine at position 26 (Y26C)

Ref Sequence

ENSEMBL: ENSMUSP00000020804 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000020801] [ENSMUST00000020804] [ENSMUST00000143280]

AlphaFold

Q9CRY7

Predicted Effect

probably benign
Transcript: ENSMUST00000020801

SMART Domains

Protein: ENSMUSP00000020801
Gene: ENSMUSG00000020495

Domain	Start	End	E-Value	Type
low complexity region	19	36	N/A	INTRINSIC
Pfam:DUF2146	41	985	N/A	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000020804
AA Change: Y26C

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000020804
Gene: ENSMUSG00000061666
AA Change: Y26C

Domain	Start	End	E-Value	Type
transmembrane domain	5	24	N/A	INTRINSIC
Pfam:GDPD	45	204	1.2e-26	PFAM
low complexity region	206	217	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000120315

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000134275

Predicted Effect

probably benign
Transcript: ENSMUST00000143280

SMART Domains

Protein: ENSMUSP00000119011
Gene: ENSMUSG00000020495

Domain	Start	End	E-Value	Type
Pfam:DUF2146	1	269	2.9e-89	PFAM

Coding Region Coverage

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the glycerophosphodiester phosphodiesterase family of enzymes that catalyze the hydrolysis of deacylated glycerophospholipids to glycerol phosphate and alcohol. The encoded protein is localized to the cytoplasm and concentrates near the perinuclear region. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Oct 2009]

Allele List at MGI

Other mutations in this stock

Total: 18 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcb10	T	C	8: 124,681,100 (GRCm39)	S699G	probably benign	Het
Ak2	C	T	4: 128,893,030 (GRCm39)	A63V	probably benign	Het
Bckdha	T	C	7: 25,330,534 (GRCm39)	Y354C	probably damaging	Het
Ess2	T	C	16: 17,720,775 (GRCm39)	E357G	possibly damaging	Het
Fmod	T	A	1: 133,968,235 (GRCm39)	C92S	probably damaging	Het
Gpr45	T	C	1: 43,071,998 (GRCm39)	S214P	probably damaging	Het
Lmod3	A	G	6: 97,224,633 (GRCm39)	V396A	probably damaging	Het
Lpcat3	A	G	6: 124,675,072 (GRCm39)	Y64C	probably damaging	Het
Nrdc	T	A	4: 108,881,391 (GRCm39)		probably benign	Het
Or5i1	C	T	2: 87,613,576 (GRCm39)	R231C	probably damaging	Het
Or6n2	T	A	1: 173,896,957 (GRCm39)	L31Q	probably null	Het
Or8c16	T	C	9: 38,130,389 (GRCm39)	V90A	probably benign	Het
Pcnt	T	C	10: 76,239,599 (GRCm39)	D1296G	probably damaging	Het
Pitpnm1	T	A	19: 4,151,207 (GRCm39)	I8N	probably damaging	Het
Sel1l	T	C	12: 91,781,771 (GRCm39)	N538S	probably damaging	Het
Srrm2	T	G	17: 24,034,306 (GRCm39)		probably benign	Het
Svs3b	G	T	2: 164,098,124 (GRCm39)	Q66K	possibly damaging	Het
Ttn	T	A	2: 76,640,634 (GRCm39)	K11959*	probably null	Het

Other mutations in Gdpd1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02585:Gdpd1	APN	11	86,964,802 (GRCm39)	start codon destroyed	probably null	0.98
PIT4687001:Gdpd1	UTSW	11	86,950,366 (GRCm39)	missense	probably damaging	1.00
R0947:Gdpd1	UTSW	11	86,928,707 (GRCm39)	missense	probably benign
R1454:Gdpd1	UTSW	11	86,950,335 (GRCm39)	missense	possibly damaging	0.95
R2086:Gdpd1	UTSW	11	86,926,094 (GRCm39)	missense	probably benign
R2183:Gdpd1	UTSW	11	86,926,102 (GRCm39)	missense	probably damaging	1.00
R4416:Gdpd1	UTSW	11	86,926,114 (GRCm39)	missense	probably benign	0.44
R5517:Gdpd1	UTSW	11	86,950,332 (GRCm39)	missense	probably damaging	1.00
R7038:Gdpd1	UTSW	11	86,926,118 (GRCm39)	missense	probably damaging	1.00
R7898:Gdpd1	UTSW	11	86,932,639 (GRCm39)	missense	probably damaging	0.98
R8788:Gdpd1	UTSW	11	86,950,318 (GRCm39)	missense	probably damaging	1.00
R9205:Gdpd1	UTSW	11	86,936,009 (GRCm39)	missense	probably benign	0.22
R9507:Gdpd1	UTSW	11	86,950,264 (GRCm39)	missense	possibly damaging	0.88

Posted On

2015-04-16