Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01736:Gdpd3'

105709

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: 0.059) question?

Stock #

IGL01736

Quality Score

Status

Chromosome

Chromosomal Location

126365586-126374817 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 126365695 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Proline at position 18 (L18P)

Ref Sequence

ENSEMBL: ENSMUSP00000032944 (fasta)

Gene Model

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

AlphaFold

Q99LY2

Predicted Effect

probably damaging
Transcript: ENSMUST00000032944
AA Change: L18P

PolyPhen 2 Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000032944
Gene: ENSMUSG00000030703
AA Change: L18P

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: ENSMUST00000145965

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000205468

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000207004

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000206858

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000205660

Predicted Effect

probably benign
Transcript: ENSMUST00000205657

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000206350

Predicted Effect

probably benign
Transcript: ENSMUST00000206272

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000205910

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: 42 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acacb	A	G	5: 114,326,503 (GRCm39)	T290A	possibly damaging	Het
Apip	G	A	2: 102,917,486 (GRCm39)	V62M	probably damaging	Het
Appbp2	T	C	11: 85,105,143 (GRCm39)	K141R	possibly damaging	Het
Arhgef18	T	A	8: 3,501,624 (GRCm39)		probably benign	Het
B3galt2	A	G	1: 143,522,583 (GRCm39)	T240A	probably benign	Het
Bivm	A	T	1: 44,180,973 (GRCm39)	N385I	probably damaging	Het
Brd4	A	T	17: 32,417,649 (GRCm39)		probably benign	Het
Cage1	T	C	13: 38,206,789 (GRCm39)	D352G	possibly damaging	Het
Ceacam10	A	G	7: 24,480,535 (GRCm39)	Y102C	probably damaging	Het
Diaph3	T	C	14: 87,156,282 (GRCm39)	D677G	probably benign	Het
Dis3l	T	C	9: 64,226,536 (GRCm39)		probably null	Het
Dnah6	C	T	6: 73,165,360 (GRCm39)	V582M	probably benign	Het
Fndc3b	A	G	3: 27,521,552 (GRCm39)	L541P	probably damaging	Het
Folh1	T	C	7: 86,391,444 (GRCm39)	T384A	possibly damaging	Het
Grxcr2	T	A	18: 42,132,047 (GRCm39)	K7N	probably damaging	Het
Gulo	A	G	14: 66,234,325 (GRCm39)	F246L	probably benign	Het
Inpp4b	A	T	8: 82,723,968 (GRCm39)	D500V	probably benign	Het
Ints4	C	T	7: 97,175,849 (GRCm39)	L647F	probably benign	Het
Kif17	T	A	4: 138,013,876 (GRCm39)	L264Q	possibly damaging	Het
Kif21a	T	C	15: 90,843,948 (GRCm39)	N1104S	possibly damaging	Het
Ly6e	T	G	15: 74,830,546 (GRCm39)	L132R	probably benign	Het
Mis18bp1	T	A	12: 65,185,452 (GRCm39)	H905L	probably damaging	Het
Nr2f2	A	G	7: 70,004,446 (GRCm39)	S269P	probably damaging	Het
Or2b2b	C	A	13: 21,858,787 (GRCm39)	C109F	probably benign	Het
Or2o1	G	A	11: 49,051,354 (GRCm39)	C171Y	probably damaging	Het
Or5d46	T	A	2: 88,170,771 (GRCm39)	N287K	probably damaging	Het
Pde8b	T	C	13: 95,166,910 (GRCm39)	I757V	probably damaging	Het
Psg23	A	T	7: 18,346,122 (GRCm39)	I191N	possibly damaging	Het
Slc12a4	A	T	8: 106,672,475 (GRCm39)		probably null	Het
Snph	A	T	2: 151,436,093 (GRCm39)	Y209*	probably null	Het
Tnfaip3	T	C	10: 18,882,649 (GRCm39)	H256R	probably damaging	Het
Tnip3	T	A	6: 65,573,107 (GRCm39)		probably benign	Het
Ttc3	T	A	16: 94,243,386 (GRCm39)	F1130Y	probably damaging	Het
Twnk	T	G	19: 44,998,627 (GRCm39)	V515G	probably damaging	Het
Usp24	T	A	4: 106,280,658 (GRCm39)	I2324K	probably benign	Het
Vwa7	T	C	17: 35,238,827 (GRCm39)	F305S	probably damaging	Het
Ythdc2	A	T	18: 44,983,735 (GRCm39)	Q567L	probably damaging	Het
Zbtb11	T	A	16: 55,818,523 (GRCm39)	I649K	probably damaging	Het
Zbtb49	T	C	5: 38,358,204 (GRCm39)	Y683C	probably damaging	Het
Zfhx4	A	T	3: 5,309,152 (GRCm39)	M793L	possibly damaging	Het
Zmym6	T	G	4: 127,002,437 (GRCm39)	I556R	probably damaging	Het
Zswim8	C	T	14: 20,764,780 (GRCm39)	P717S	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
IGL01465:Gdpd3	APN	7	126,367,829 (GRCm39)	missense	possibly damaging	0.63
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

2014-01-21