Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL00736:Gde1'

10946

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Gde1

Ensembl Gene

ENSMUSG00000033917

Gene Name

glycerophosphodiester phosphodiesterase 1

Synonyms

1200003M13Rik, MIR16

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.371) question?

Stock #

IGL00736

Quality Score

Status

Chromosome

Chromosomal Location

118688545-118705778 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 118698702 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Glycine at position 97 (E97G)

Ref Sequence

ENSEMBL: ENSMUSP00000046371 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000038791] [ENSMUST00000132509] [ENSMUST00000207323] [ENSMUST00000208040]

AlphaFold

Q9JL56

Predicted Effect

probably damaging
Transcript: ENSMUST00000038791
AA Change: E97G

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000046371
Gene: ENSMUSG00000033917
AA Change: E97G

Domain	Start	End	E-Value	Type
low complexity region	17	24	N/A	INTRINSIC
Pfam:GDPD	70	325	1.1e-35	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000132509

SMART Domains

Protein: ENSMUSP00000122015
Gene: ENSMUSG00000033917

Domain	Start	End	E-Value	Type
Pfam:GDPD	1	135	1.7e-12	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000207323

Predicted Effect

probably benign
Transcript: ENSMUST00000208040
AA Change: S96G

PolyPhen 2 Score 0.271 (Sensitivity: 0.91; Specificity: 0.88)

Coding Region Coverage

Validation Efficiency

MGI Phenotype

PHENOTYPE: Mice homozygous for a knock-out allele lack glycero-phospho-N-acyl ethanolamine (GP-NAE) phosphodiesterase activity in the brain. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 15 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adarb1	A	G	10: 77,322,490	L41P	probably damaging	Het
Baz1b	A	G	5: 135,240,032	Y1245C	probably damaging	Het
Dnajb7	T	A	15: 81,407,573	I188F	probably benign	Het
Dpf1	A	T	7: 29,312,908	K18*	probably null	Het
Drosha	T	A	15: 12,833,959	Y50N	unknown	Het
Eif2s1	T	A	12: 78,884,837		probably benign	Het
Lrrc8c	G	A	5: 105,607,114	V252M	probably damaging	Het
Megf10	G	A	18: 57,292,710	R1056Q	probably benign	Het
Myo3b	A	C	2: 70,105,645		probably benign	Het
Ralbp1	T	C	17: 65,864,723	Y85C	probably damaging	Het
Serpini2	C	T	3: 75,267,809	M58I	possibly damaging	Het
Skor1	C	A	9: 63,139,538	Q892H	probably damaging	Het
Slc22a26	T	C	19: 7,790,162	Q292R	possibly damaging	Het
Smc1b	T	C	15: 85,129,700	E90G	possibly damaging	Het
Zmym2	T	C	14: 56,903,211	V169A	probably benign	Het

Other mutations in Gde1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01288:Gde1	APN	7	118691640	missense	possibly damaging	0.63
IGL01370:Gde1	APN	7	118689160	unclassified	probably benign
IGL01677:Gde1	APN	7	118694487	splice site	probably benign
IGL02701:Gde1	APN	7	118698637	missense	probably damaging	1.00
R0130:Gde1	UTSW	7	118695060	missense	probably benign	0.24
R1191:Gde1	UTSW	7	118705441	missense	probably damaging	1.00
R1478:Gde1	UTSW	7	118691784	missense	probably benign	0.00
R1836:Gde1	UTSW	7	118695134	missense	possibly damaging	0.66
R2357:Gde1	UTSW	7	118691591	missense	probably benign	0.11
R4373:Gde1	UTSW	7	118698558	missense	possibly damaging	0.91
R4658:Gde1	UTSW	7	118694528	missense	probably benign
R5364:Gde1	UTSW	7	118698651	missense	probably benign	0.00
R5367:Gde1	UTSW	7	118705406	missense	probably damaging	1.00
R6255:Gde1	UTSW	7	118691781	missense	probably null	0.00
R7604:Gde1	UTSW	7	118705536	missense	possibly damaging	0.95
R7981:Gde1	UTSW	7	118689041	missense	probably damaging	1.00
R8935:Gde1	UTSW	7	118698691	missense	possibly damaging	0.70
R9100:Gde1	UTSW	7	118695082	missense	probably benign	0.00

Posted On

2012-12-06