Mutagenetix > Incidental Mutations

Incidental Mutation 'R4373:Gde1'

326065

Institutional Source

Beutler Lab

Gene Symbol

Gde1

Ensembl Gene

ENSMUSG00000033917

Gene Name

glycerophosphodiester phosphodiesterase 1

Synonyms

1200003M13Rik, MIR16

MMRRC Submission

041675-MU

Accession Numbers

Is this an essential gene?

Possibly non essential (E-score: 0.320) question?

Stock #

R4373 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

118688545-118705778 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 118698558 bp

Zygosity

Heterozygous

Amino Acid Change

Leucine to Proline at position 35 (L35P)

Ref Sequence

ENSEMBL: ENSMUSP00000122015 (fasta)

Gene Model

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

Predicted Effect

possibly damaging
Transcript: ENSMUST00000038791
AA Change: L145P

PolyPhen 2 Score 0.907 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000046371
Gene: ENSMUSG00000033917
AA Change: L145P

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

Predicted Effect

possibly damaging
Transcript: ENSMUST00000132509
AA Change: L35P

PolyPhen 2 Score 0.907 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000122015
Gene: ENSMUSG00000033917
AA Change: L35P

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

Meta Mutation Damage Score

0.3624

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.2%
20x: 94.9%

Validation Efficiency

98% (54/55)

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: 50 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
0610010F05Rik	A	T	11: 23,615,265		probably null	Het
3632451O06Rik	T	A	14: 49,770,436	T527S	probably damaging	Het
Adck5	A	G	15: 76,594,335		probably benign	Het
Akr1b3	A	C	6: 34,304,267		probably benign	Het
Asns	A	T	6: 7,677,978	S367T	probably damaging	Het
BC034090	T	C	1: 155,226,158	N120S	probably benign	Het
Bub1	A	T	2: 127,805,236		probably benign	Het
Csf1	T	A	3: 107,756,739	T38S	probably damaging	Het
Ctsz	T	C	2: 174,428,585	E268G	possibly damaging	Het
Dach1	G	A	14: 97,827,750	T685I	possibly damaging	Het
Dclre1a	A	G	19: 56,545,442	L240S	probably benign	Het
Ercc1	G	A	7: 19,347,132		probably benign	Het
Esam	C	T	9: 37,534,196	T71I	probably benign	Het
Espl1	A	G	15: 102,312,989	I944V	probably damaging	Het
Gm10382	A	G	5: 125,389,583		probably benign	Het
H2-M10.6	T	C	17: 36,813,066	Y141H	probably damaging	Het
Hk1	C	A	10: 62,315,540	K10N	probably damaging	Het
Lamc3	A	G	2: 31,898,232	K135E	probably damaging	Het
Lrtm2	A	G	6: 119,320,528	F184S	probably damaging	Het
March11	A	G	15: 26,309,446	E62G	probably damaging	Het
Mtcl1	T	A	17: 66,380,079	T611S	probably benign	Het
Myc	A	T	15: 61,989,664	H373L	probably damaging	Het
Myh6	T	A	14: 54,962,108	I249F	probably damaging	Het
Naaa	T	C	5: 92,278,143		probably benign	Het
Nfib	A	G	4: 82,323,658	V432A	probably damaging	Het
Nmt1	A	G	11: 103,043,200	K55R	probably damaging	Het
Olfr1228	T	C	2: 89,249,245	R150G	possibly damaging	Het
Opa3	C	T	7: 19,244,774	R55W	probably damaging	Het
Pfn4	T	A	12: 4,770,182	D10E	probably damaging	Het
Pld5	T	A	1: 176,140,017	I91F	probably damaging	Het
Plec	A	C	15: 76,183,117	S1350A	probably damaging	Het
Polq	G	T	16: 37,013,181	V79F	probably damaging	Het
Ppp1r16b	T	C	2: 158,761,765	Y537H	probably damaging	Het
Prdm8	T	C	5: 98,186,508	S645P	probably damaging	Het
Rgs1	T	C	1: 144,247,906	T94A	probably benign	Het
Rpl11	G	A	4: 136,051,143		probably benign	Het
Scamp3	G	A	3: 89,181,927		probably null	Het
Sgsm1	TTTTATATT	TTT	5: 113,258,123		probably benign	Het
Sirpb1b	A	T	3: 15,548,761	I87K	probably damaging	Het
Slc14a2	G	A	18: 78,207,068	R62C	probably damaging	Het
Stat4	T	C	1: 52,071,941		probably null	Het
Tex9	A	T	9: 72,480,595		probably null	Het
Tsku	T	C	7: 98,352,831	T98A	probably benign	Het
Ttc23l	CT	CTTGGATT	15: 10,537,562		probably benign	Het
Ttc23l	G	A	15: 10,537,566	S206L	probably benign	Het
Vmn2r116	A	C	17: 23,401,421	I710L	probably benign	Het
Vmn2r16	A	T	5: 109,363,801	I625F	probably damaging	Het
Xpo4	G	A	14: 57,591,022	Q794*	probably null	Het
Zfp112	T	A	7: 24,125,048	I147N	probably damaging	Het
Zmiz1	T	C	14: 25,636,010	S140P	probably damaging	Het

Other mutations in Gde1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00736:Gde1	APN	7	118698702	missense	probably damaging	1.00
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
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

Predicted Primers

PCR Primer
(F):5'- CTGCAATGCAAACGGTAAAATG -3'
(R):5'- ACTTCAGCAGCCATGTTGC -3'

Sequencing Primer
(F):5'- CGGTAAAATGGACACACAGTGCTTC -3'
(R):5'- TTTGTTAAGGCAGCTAAGAATGG -3'

Posted On

2015-07-06