Mutagenetix > Incidental Mutation

Incidental Mutation 'R9459:Gadl1'

714767

Institutional Source

Beutler Lab

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: 0.089) question?

Stock #

R9459 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

115909455-116076176 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 115965611 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Tryptophan to Arginine at position 285 (W285R)

Ref Sequence

ENSEMBL: ENSMUSP00000112433 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000069651] [ENSMUST00000119291] [ENSMUST00000121770]

AlphaFold

no structure available at present

Predicted Effect

probably damaging
Transcript: ENSMUST00000069651
AA Change: W285R

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000077694
Gene: ENSMUSG00000056880
AA Change: W285R

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 damaging
Transcript: ENSMUST00000119291
AA Change: W285R

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000112433
Gene: ENSMUSG00000056880
AA Change: W285R

Domain	Start	End	E-Value	Type
Pfam:Pyridoxal_deC	58	426	3.2e-112	PFAM
Pfam:Beta_elim_lyase	137	446	1.6e-6	PFAM
Pfam:Aminotran_5	184	330	3.3e-6	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000121770
AA Change: W285R

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000113240
Gene: ENSMUSG00000056880
AA Change: W285R

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

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 98.9%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 53 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700020D05Rik	T	A	19: 5,503,729	H8L	probably benign	Het
Abcb1a	T	A	5: 8,685,414		probably null	Het
Alms1	T	A	6: 85,627,964	C2199S	probably damaging	Het
Aox3	A	G	1: 58,150,309	I390V	probably benign	Het
Ap3b2	T	C	7: 81,473,903	N400S	probably benign	Het
Baalc	A	T	15: 38,934,024	N70I	probably benign	Het
Brca2	T	A	5: 150,540,629	V1286D	probably damaging	Het
Ccdc30	T	C	4: 119,377,273	R81G	possibly damaging	Het
Cd209g	T	C	8: 4,135,610	S15P	probably benign	Het
Chrnb3	G	A	8: 27,393,856	W207*	probably null	Het
Cmpk2	C	T	12: 26,478,023	T413M	probably damaging	Het
Coq4	T	A	2: 29,788,550	Y63N	probably damaging	Het
Depdc5	T	A	5: 32,990,773	S1478T	probably damaging	Het
Etf1	A	G	18: 34,906,081	F378L	probably benign	Het
Exoc6	T	C	19: 37,585,893	V324A	probably benign	Het
Frem2	A	G	3: 53,653,486	L1200P	probably benign	Het
Gbp3	A	G	3: 142,564,946		probably null	Het
Gm14295	C	T	2: 176,807,372	T5I	possibly damaging	Het
Hps4	T	C	5: 112,375,009	S578P	probably benign	Het
Kctd13	T	A	7: 126,945,082	D317E	probably damaging	Het
Kdm4b	T	A	17: 56,399,509	D881E	probably benign	Het
Klf10	G	A	15: 38,295,927	P473L	probably damaging	Het
Lrch3	A	T	16: 32,979,405	D371V	probably damaging	Het
Msh2	T	C	17: 87,678,330	S112P	possibly damaging	Het
Msh3	A	G	13: 92,215,539	V1036A	possibly damaging	Het
Mybl1	A	G	1: 9,676,259	V392A	possibly damaging	Het
Myo7a	T	C	7: 98,073,173	I1182V	possibly damaging	Het
Nectin1	A	C	9: 43,803,793	E442A	probably benign	Het
Obsl1	G	T	1: 75,498,240	H839N	probably benign	Het
Olfr1202	T	C	2: 88,817,623	F151L	probably benign	Het
Olfr1505	T	C	19: 13,919,310	C97R	possibly damaging	Het
Pacs1	C	T	19: 5,145,070		probably null	Het
Pcdh17	G	T	14: 84,448,623	E843D	probably benign	Het
Pcnt	A	G	10: 76,392,738	L1531P	probably damaging	Het
Pdgfra	A	G	5: 75,192,468	D973G	probably damaging	Het
Pkd2	A	G	5: 104,466,934	Y214C	probably damaging	Het
Plcb1	T	C	2: 135,322,638	Y427H	probably benign	Het
Ppm1h	A	G	10: 122,907,577	N402S	possibly damaging	Het
Rassf4	T	A	6: 116,641,788		probably null	Het
Ryr1	G	A	7: 29,068,643	T2856I	probably damaging	Het
Serpinb8	A	T	1: 107,605,790	K192*	probably null	Het
Slfn14	T	G	11: 83,279,372	Q482P	possibly damaging	Het
Spata2	A	G	2: 167,485,285	V64A	probably benign	Het
Tax1bp1	T	G	6: 52,729,329	V105G	probably damaging	Het
Tbc1d22a	T	G	15: 86,235,820	S142A	possibly damaging	Het
Tdrd9	T	C	12: 112,025,573	F594S	probably damaging	Het
Uba3	T	C	6: 97,189,598	I281V	probably benign	Het
Uggt2	T	C	14: 119,049,183	E723G	probably benign	Het
Usp20	C	T	2: 31,011,012	S391F	probably damaging	Het
Usp24	T	A	4: 106,342,358	D166E	probably damaging	Het
Vmn1r1	A	G	1: 182,157,938	V54A	probably benign	Het
Zfp442	T	A	2: 150,408,748	E411D	unknown	Het
Zfp804a	T	C	2: 82,259,409	I1194T	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
IGL01343:Gadl1	APN	9	116074112	makesense	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
R8843:Gadl1	UTSW	9	116006501	missense	probably benign	0.00
R8858:Gadl1	UTSW	9	116006601	missense	probably damaging	1.00
R9015:Gadl1	UTSW	9	115965637	missense	probably benign	0.03
R9758:Gadl1	UTSW	9	115960451	missense	probably benign	0.09
Z1088:Gadl1	UTSW	9	115937270	missense	probably benign	0.00

Predicted Primers

PCR Primer
(F):5'- TAATGAGGACTCTACTGGGGTTCG -3'
(R):5'- CATGGGATTCCTCATCTAAGGG -3'

Sequencing Primer
(F):5'- GGTTCGTATTGCCTGATCAGACTC -3'
(R):5'- AGGACCTAATTGACTGAGTTACTCCC -3'

Posted On

2022-06-15