Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01370:Gde1'

76131

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?

Probably non essential (E-score: 0.153) question?

Stock #

IGL01370

Quality Score

Status

Chromosome

Chromosomal Location

118287781-118304961 bp(-) (GRCm39)

Type of Mutation

unclassified

DNA Base Change (assembly)

A to G at 118288383 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000147251 (fasta)

Gene Model

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

AlphaFold

Q9JL56

Predicted Effect

probably benign
Transcript: ENSMUST00000038791

SMART Domains

Protein: ENSMUSP00000046371
Gene: ENSMUSG00000033917

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000208632

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: 49 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adck1	A	T	12: 88,423,503 (GRCm39)		probably benign	Het
Add1	C	T	5: 34,787,859 (GRCm39)	T210I	probably damaging	Het
Ajm1	T	C	2: 25,468,969 (GRCm39)	E314G	possibly damaging	Het
Alpk2	A	T	18: 65,483,662 (GRCm39)	D115E	possibly damaging	Het
Ankrd36	C	T	11: 5,534,019 (GRCm39)	T290I	probably benign	Het
Bltp1	T	A	3: 37,001,904 (GRCm39)	I1283N	probably benign	Het
Castor2	T	C	5: 134,167,111 (GRCm39)	V323A	probably benign	Het
Ccnt2	T	C	1: 127,731,250 (GRCm39)	F709S	possibly damaging	Het
Erc1	T	C	6: 119,801,426 (GRCm39)	E197G	probably damaging	Het
Ftsj3	G	T	11: 106,143,145 (GRCm39)	R390S	possibly damaging	Het
Gabrb3	G	A	7: 57,466,226 (GRCm39)	A347T	probably benign	Het
Jhy	A	T	9: 40,828,438 (GRCm39)	N489K	probably benign	Het
Kiss1r	A	G	10: 79,754,658 (GRCm39)	T51A	probably benign	Het
Lama5	T	C	2: 179,839,193 (GRCm39)	S772G	possibly damaging	Het
Lamb2	G	T	9: 108,364,932 (GRCm39)		probably null	Het
Loxl3	A	G	6: 83,026,468 (GRCm39)	T475A	probably damaging	Het
Lpl	A	T	8: 69,340,220 (GRCm39)	S72C	possibly damaging	Het
Lrrc74a	A	T	12: 86,801,204 (GRCm39)	I352F	probably damaging	Het
Mcoln2	T	C	3: 145,887,585 (GRCm39)	I334T	possibly damaging	Het
Mettl8	T	G	2: 70,812,383 (GRCm39)	D49A	probably damaging	Het
Ms4a3	T	A	19: 11,610,245 (GRCm39)	T106S	probably benign	Het
Obscn	T	A	11: 58,886,389 (GRCm39)		probably null	Het
Or14j2	T	C	17: 37,885,412 (GRCm39)	I301V	probably null	Het
Or1o11	C	A	17: 37,756,605 (GRCm39)	H64Q	probably benign	Het
Or1p1c	G	A	11: 74,160,325 (GRCm39)	V37I	probably benign	Het
Or4n4	G	T	14: 50,519,689 (GRCm39)	T7K	probably damaging	Het
Or5b107	A	T	19: 13,142,663 (GRCm39)	Y95F	possibly damaging	Het
Pcnx2	T	C	8: 126,528,222 (GRCm39)	K1333E	probably damaging	Het
Pias3	T	C	3: 96,610,891 (GRCm39)	F364L	probably damaging	Het
Piezo2	T	A	18: 63,155,531 (GRCm39)	I2438F	probably damaging	Het
Plcb3	A	C	19: 6,940,192 (GRCm39)	V465G	probably damaging	Het
Plekho2	G	T	9: 65,465,912 (GRCm39)	H159N	probably damaging	Het
Polr2e	A	G	10: 79,872,681 (GRCm39)		probably benign	Het
Rab6b	G	T	9: 103,041,094 (GRCm39)	V163L	probably benign	Het
Rabep1	A	G	11: 70,816,607 (GRCm39)	M597V	probably benign	Het
Rbm15	A	G	3: 107,238,326 (GRCm39)	S691P	probably damaging	Het
Sec24b	G	A	3: 129,801,253 (GRCm39)		probably benign	Het
Slc6a18	A	G	13: 73,815,150 (GRCm39)	I386T	probably damaging	Het
Stxbp3	A	C	3: 108,704,741 (GRCm39)	Y497*	probably null	Het
Styk1	T	C	6: 131,278,615 (GRCm39)	K353R	probably damaging	Het
Tbc1d10b	A	T	7: 126,798,253 (GRCm39)	H629Q	probably damaging	Het
Tbc1d5	T	A	17: 51,273,755 (GRCm39)	I119F	probably benign	Het
Tcp11l1	G	T	2: 104,536,831 (GRCm39)	D11E	probably benign	Het
Tfap2d	A	G	1: 19,175,009 (GRCm39)	Y154C	probably damaging	Het
Tgm5	T	C	2: 120,884,018 (GRCm39)	N325S	probably benign	Het
Thbs2	T	C	17: 14,910,327 (GRCm39)	K91E	possibly damaging	Het
Vmn2r26	T	A	6: 124,038,715 (GRCm39)	F763L	probably benign	Het
Washc4	A	G	10: 83,394,694 (GRCm39)	E308G	probably damaging	Het
Xpot	C	A	10: 121,440,399 (GRCm39)	A611S	probably benign	Het

Other mutations in Gde1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00736:Gde1	APN	7	118,297,925 (GRCm39)	missense	probably damaging	1.00
IGL01288:Gde1	APN	7	118,290,863 (GRCm39)	missense	possibly damaging	0.63
IGL01677:Gde1	APN	7	118,293,710 (GRCm39)	splice site	probably benign
IGL02701:Gde1	APN	7	118,297,860 (GRCm39)	missense	probably damaging	1.00
R0130:Gde1	UTSW	7	118,294,283 (GRCm39)	missense	probably benign	0.24
R1191:Gde1	UTSW	7	118,304,664 (GRCm39)	missense	probably damaging	1.00
R1478:Gde1	UTSW	7	118,291,007 (GRCm39)	missense	probably benign	0.00
R1836:Gde1	UTSW	7	118,294,357 (GRCm39)	missense	possibly damaging	0.66
R2357:Gde1	UTSW	7	118,290,814 (GRCm39)	missense	probably benign	0.11
R4373:Gde1	UTSW	7	118,297,781 (GRCm39)	missense	possibly damaging	0.91
R4658:Gde1	UTSW	7	118,293,751 (GRCm39)	missense	probably benign
R5364:Gde1	UTSW	7	118,297,874 (GRCm39)	missense	probably benign	0.00
R5367:Gde1	UTSW	7	118,304,629 (GRCm39)	missense	probably damaging	1.00
R6255:Gde1	UTSW	7	118,291,004 (GRCm39)	missense	probably null	0.00
R7604:Gde1	UTSW	7	118,304,759 (GRCm39)	missense	possibly damaging	0.95
R7981:Gde1	UTSW	7	118,288,264 (GRCm39)	missense	probably damaging	1.00
R8935:Gde1	UTSW	7	118,297,914 (GRCm39)	missense	possibly damaging	0.70
R9100:Gde1	UTSW	7	118,294,305 (GRCm39)	missense	probably benign	0.00

Posted On

2013-10-07