Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL01343:Gadl1'

74953

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Gadl1

Ensembl Gene

ENSMUSG00000056880

Gene Name

glutamate decarboxylase-like 1

Synonyms

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.138) question?

Stock #

IGL01343

Quality Score

Status

Chromosome

Chromosomal Location

115909455-116076176 bp(+) (GRCm38)

Type of Mutation

makesense

DNA Base Change (assembly)

A to G at 116074112 bp

Zygosity

Heterozygous

Amino Acid Change

Stop codon to Tryptophan at position 503 (*503W)

Ref Sequence

ENSEMBL: ENSMUSP00000113240 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000069651] [ENSMUST00000121770]

Predicted Effect

probably null
Transcript: ENSMUST00000069651
AA Change: *503W

SMART Domains

Protein: ENSMUSP00000077694
Gene: ENSMUSG00000056880
AA Change: *503W

Domain	Start	End	E-Value	Type
Pfam:Pyridoxal_deC	58	426	1.1e-113	PFAM
Pfam:Beta_elim_lyase	137	467	1e-7	PFAM
Pfam:Aminotran_5	167	333	1.6e-7	PFAM

Predicted Effect

probably null
Transcript: ENSMUST00000121770
AA Change: *503W

SMART Domains

Protein: ENSMUSP00000113240
Gene: ENSMUSG00000056880
AA Change: *503W

Domain	Start	End	E-Value	Type
Pfam:Pyridoxal_deC	58	426	2.8e-112	PFAM
Pfam:Beta_elim_lyase	137	461	6.2e-8	PFAM
Pfam:Aminotran_5	184	330	4.1e-7	PFAM

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 56 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
9530053A07Rik	A	G	7: 28,150,702	Q1191R	probably benign	Het
Abcd2	A	T	15: 91,149,213		probably benign	Het
Adgrf1	T	A	17: 43,313,195	F835L	probably null	Het
Akp3	G	T	1: 87,127,136		probably benign	Het
BC106179	G	T	16: 23,224,287		probably benign	Het
Bysl	C	A	17: 47,601,889	M325I	probably benign	Het
C330027C09Rik	A	G	16: 49,013,188	I551V	probably damaging	Het
Crnn	A	G	3: 93,148,326	R140G	probably benign	Het
Cts8	T	C	13: 61,249,196		probably benign	Het
Cxcr4	T	C	1: 128,589,555	Y121C	probably damaging	Het
Ddr2	T	C	1: 169,984,581	T691A	probably benign	Het
Dhx30	A	T	9: 110,086,245	F782I	probably benign	Het
Efcab5	C	T	11: 77,129,930	G655D	probably damaging	Het
Eif2ak4	G	A	2: 118,422,089	V381I	probably benign	Het
Enpp3	A	T	10: 24,805,922	Y295*	probably null	Het
Fbxo28	T	C	1: 182,317,012	E329G	probably damaging	Het
Fmnl2	T	A	2: 53,123,545	V972D	probably damaging	Het
Fmr1	A	G	X: 68,688,295	D22G	probably damaging	Het
Fsip2	A	G	2: 82,999,819	T6886A	possibly damaging	Het
Gpc6	A	T	14: 117,186,812	K104I	possibly damaging	Het
Hecw2	T	A	1: 53,826,976	T1509S	probably damaging	Het
Lonp1	A	G	17: 56,615,586	L680P	possibly damaging	Het
Lrrc66	A	T	5: 73,608,463	N412K	probably damaging	Het
Marco	C	T	1: 120,494,740		probably null	Het
Mdga2	T	C	12: 66,723,109	T206A	probably damaging	Het
Mogat2	C	A	7: 99,232,568	A54S	possibly damaging	Het
Myh15	T	A	16: 49,155,677	D1369E	probably benign	Het
Nckap1	A	T	2: 80,519,842	S840T	possibly damaging	Het
Ncor1	C	T	11: 62,325,486		probably null	Het
Nfrkb	C	A	9: 31,388,954	L14I	probably damaging	Het
Notch1	C	A	2: 26,472,905	A950S	probably benign	Het
Notch3	T	C	17: 32,143,436	E1405G	probably benign	Het
Nsd2	C	A	5: 33,843,578	D146E	probably damaging	Het
Oc90	T	C	15: 65,889,591	T193A	probably benign	Het
Olfr1090	T	A	2: 86,754,499	K80*	probably null	Het
Olfr1356	A	T	10: 78,847,597	V106E	probably damaging	Het
Olfr150	C	A	9: 39,737,715	A300D	probably damaging	Het
Orc2	A	T	1: 58,492,855		probably null	Het
Pacsin2	T	C	15: 83,386,686	H254R	probably damaging	Het
Pif1	T	A	9: 65,589,562	M319K	probably damaging	Het
Prag1	G	A	8: 36,103,046	R261H	possibly damaging	Het
Ptprq	G	A	10: 107,638,839	T1335I	probably damaging	Het
Ryr3	A	G	2: 112,660,054	Y3812H	probably damaging	Het
Sgo2b	G	A	8: 63,927,315	Q828*	probably null	Het
Skint6	A	G	4: 113,283,626	V6A	probably benign	Het
Slc16a13	A	G	11: 70,220,514	I55T	probably damaging	Het
Slc22a3	A	T	17: 12,425,629	W490R	probably damaging	Het
Speer4b	G	T	5: 27,497,883	H208N	probably benign	Het
Tas2r124	T	C	6: 132,755,415	L229S	probably damaging	Het
Tlr4	T	C	4: 66,833,887		probably benign	Het
Tmed1	G	T	9: 21,510,073	T35K	probably damaging	Het
Tubgcp5	C	A	7: 55,796,031		probably benign	Het
Ugt2b34	A	G	5: 86,904,388	S250P	possibly damaging	Het
Zfp516	A	G	18: 82,993,096	T1085A	probably damaging	Het
Znfx1	T	C	2: 167,037,363	I1698V	probably benign	Het
Zswim8	G	T	14: 20,713,341	W385C	probably damaging	Het

Other mutations in Gadl1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01069:Gadl1	APN	9	115954839	critical splice donor site	probably null
IGL01693:Gadl1	APN	9	115949585	missense	probably damaging	1.00
IGL02106:Gadl1	APN	9	115937157	utr 5 prime	probably benign
IGL02740:Gadl1	APN	9	116006561	nonsense	probably null
IGL03063:Gadl1	APN	9	115966267	missense	probably damaging	1.00
IGL03104:Gadl1	APN	9	116074040	missense	possibly damaging	0.93
IGL03127:Gadl1	APN	9	115948664	missense	probably damaging	1.00
R0133:Gadl1	UTSW	9	115941343	missense	probably benign	0.00
R0285:Gadl1	UTSW	9	116030738	splice site	probably benign
R0737:Gadl1	UTSW	9	116073987	missense	probably damaging	0.99
R0771:Gadl1	UTSW	9	115944232	missense	probably damaging	1.00
R1522:Gadl1	UTSW	9	115944229	missense	probably damaging	1.00
R1716:Gadl1	UTSW	9	116006508	nonsense	probably null
R2061:Gadl1	UTSW	9	115941380	missense	probably damaging	1.00
R2163:Gadl1	UTSW	9	115949558	missense	possibly damaging	0.93
R3854:Gadl1	UTSW	9	116006664	nonsense	probably null
R3964:Gadl1	UTSW	9	115965608	missense	probably damaging	0.98
R4654:Gadl1	UTSW	9	115941340	missense	probably damaging	1.00
R4724:Gadl1	UTSW	9	115954617	missense	possibly damaging	0.81
R4765:Gadl1	UTSW	9	115966313	missense	probably null	0.00
R4956:Gadl1	UTSW	9	116040919	missense	probably benign	0.00
R5179:Gadl1	UTSW	9	115960380	nonsense	probably null
R5593:Gadl1	UTSW	9	116006650	missense	probably damaging	1.00
R5620:Gadl1	UTSW	9	115937162	start codon destroyed	probably benign	0.09
R6048:Gadl1	UTSW	9	116006701	splice site	probably null
R6458:Gadl1	UTSW	9	116041002	makesense	probably null
R7497:Gadl1	UTSW	9	116074087	missense	probably benign	0.00
R7889:Gadl1	UTSW	9	115954815	missense	possibly damaging	0.56
R7972:Gadl1	UTSW	9	115954815	missense	possibly damaging	0.56
Z1088:Gadl1	UTSW	9	115937270	missense	probably benign	0.00

Posted On

2013-10-07