Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01465:Gdpd3'

88081

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Gdpd3

Ensembl Gene

ENSMUSG00000030703

Gene Name

glycerophosphodiester phosphodiesterase domain containing 3

Synonyms

1110015E22Rik

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.069) question?

Stock #

IGL01465

Quality Score

Status

Chromosome

Chromosomal Location

126365586-126374817 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 126367829 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Valine at position 221 (I221V)

Ref Sequence

ENSEMBL: ENSMUSP00000032944 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000032944] [ENSMUST00000050201] [ENSMUST00000057669] [ENSMUST00000091328]

AlphaFold

Q99LY2

Predicted Effect

possibly damaging
Transcript: ENSMUST00000032944
AA Change: I221V

PolyPhen 2 Score 0.630 (Sensitivity: 0.87; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000032944
Gene: ENSMUSG00000030703
AA Change: I221V

Domain	Start	End	E-Value	Type
transmembrane domain	4	23	N/A	INTRINSIC
Pfam:GDPD	44	202	1.1e-23	PFAM
low complexity region	208	216	N/A	INTRINSIC
low complexity region	311	321	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000050201

SMART Domains

Protein: ENSMUSP00000101969
Gene: ENSMUSG00000063065

Domain	Start	End	E-Value	Type
low complexity region	2	32	N/A	INTRINSIC
S_TKc	43	331	3.3e-97	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000057669

SMART Domains

Protein: ENSMUSP00000051619
Gene: ENSMUSG00000063065

Domain	Start	End	E-Value	Type
low complexity region	2	32	N/A	INTRINSIC
S_TKc	43	331	3.3e-97	SMART
Blast:S_TKc	335	372	1e-15	BLAST

Predicted Effect

probably benign
Transcript: ENSMUST00000091328

SMART Domains

Protein: ENSMUSP00000088880
Gene: ENSMUSG00000063065

Domain	Start	End	E-Value	Type
Pfam:Pkinase_Tyr	1	213	2.5e-24	PFAM
Pfam:Pkinase	1	216	2.2e-58	PFAM
Pfam:APH	17	108	7.6e-7	PFAM
Blast:S_TKc	220	257	4e-16	BLAST

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000135649

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000205468

Predicted Effect

probably benign
Transcript: ENSMUST00000205657

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000206858

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000206350

Predicted Effect

probably benign
Transcript: ENSMUST00000206272

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000205660

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000205910

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000207004

Coding Region Coverage

Validation Efficiency

MGI Phenotype

PHENOTYPE: Mice homozygous for an ENU-induced allele exhibit normal blood lymphocyte populations. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 25 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aass	A	G	6: 23,114,838 (GRCm39)		probably null	Het
Abracl	A	T	10: 17,887,399 (GRCm39)	I76N	probably damaging	Het
Akap12	C	T	10: 4,306,886 (GRCm39)	T1232I	probably damaging	Het
Clcn6	A	T	4: 148,105,908 (GRCm39)		probably benign	Het
Cpsf2	C	A	12: 101,963,592 (GRCm39)	D440E	probably damaging	Het
Csf2ra	A	G	19: 61,214,436 (GRCm39)	V243A	possibly damaging	Het
Cyp4f18	T	A	8: 72,756,288 (GRCm39)	H96L	probably benign	Het
Dvl2	T	A	11: 69,897,180 (GRCm39)	I294N	probably damaging	Het
Fbn2	T	A	18: 58,336,905 (GRCm39)	N117Y	probably null	Het
Grk2	A	T	19: 4,340,886 (GRCm39)	C221S	probably damaging	Het
Idi1	T	C	13: 8,940,415 (GRCm39)	I199T	probably benign	Het
Klhl6	T	C	16: 19,801,572 (GRCm39)	E61G	probably damaging	Het
Lig1	T	A	7: 13,030,317 (GRCm39)	S431R	probably benign	Het
Lrg1	T	C	17: 56,427,705 (GRCm39)	E89G	probably benign	Het
Lrrk2	A	G	15: 91,613,128 (GRCm39)	K751E	probably benign	Het
Macf1	T	A	4: 123,384,514 (GRCm39)	T1128S	probably benign	Het
Nphs1	T	C	7: 30,186,139 (GRCm39)	*1243R	probably null	Het
Rere	G	A	4: 150,594,451 (GRCm39)	V354I	unknown	Het
Safb	A	G	17: 56,909,974 (GRCm39)		probably benign	Het
Slc2a10	C	A	2: 165,359,597 (GRCm39)	A487D	possibly damaging	Het
Slc7a12	T	A	3: 14,564,383 (GRCm39)	S85R	possibly damaging	Het
Sorbs3	G	A	14: 70,432,958 (GRCm39)		probably benign	Het
Ttn	A	G	2: 76,600,135 (GRCm39)	M19013T	probably damaging	Het
Utp4	A	G	8: 107,621,330 (GRCm39)	T36A	probably benign	Het
Vmn2r111	A	T	17: 22,767,718 (GRCm39)	F593Y	probably benign	Het

Other mutations in Gdpd3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00753:Gdpd3	APN	7	126,366,598 (GRCm39)	nonsense	probably null
IGL01113:Gdpd3	APN	7	126,366,997 (GRCm39)	missense	probably benign	0.01
IGL01433:Gdpd3	APN	7	126,370,356 (GRCm39)	missense	possibly damaging	0.82
IGL01736:Gdpd3	APN	7	126,365,695 (GRCm39)	missense	probably damaging	0.99
PIT4431001:Gdpd3	UTSW	7	126,365,647 (GRCm39)	missense	probably benign	0.05
R0118:Gdpd3	UTSW	7	126,370,165 (GRCm39)	missense	probably damaging	1.00
R0311:Gdpd3	UTSW	7	126,366,361 (GRCm39)	missense	possibly damaging	0.79
R2049:Gdpd3	UTSW	7	126,367,766 (GRCm39)	missense	probably damaging	0.99
R4976:Gdpd3	UTSW	7	126,366,454 (GRCm39)	missense	probably damaging	1.00
R6151:Gdpd3	UTSW	7	126,374,674 (GRCm39)	missense	probably benign	0.00
R6170:Gdpd3	UTSW	7	126,370,336 (GRCm39)	missense	probably benign	0.04
R6898:Gdpd3	UTSW	7	126,370,201 (GRCm39)	nonsense	probably null
R8236:Gdpd3	UTSW	7	126,367,838 (GRCm39)	missense	probably benign	0.26

Posted On

2013-11-18