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

1110027M19Rik

MMRRC Submission

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.096) question?

Stock #

R9459 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

115713947-115905243 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 115794679 bp (GRCm39)

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
Abcb1a	T	A	5: 8,735,414 (GRCm39)		probably null	Het
Alms1	T	A	6: 85,604,946 (GRCm39)	C2199S	probably damaging	Het
Aox3	A	G	1: 58,189,468 (GRCm39)	I390V	probably benign	Het
Ap3b2	T	C	7: 81,123,651 (GRCm39)	N400S	probably benign	Het
Baalc	A	T	15: 38,797,419 (GRCm39)	N70I	probably benign	Het
Brca2	T	A	5: 150,464,094 (GRCm39)	V1286D	probably damaging	Het
Ccdc30	T	C	4: 119,234,470 (GRCm39)	R81G	possibly damaging	Het
Cd209g	T	C	8: 4,185,610 (GRCm39)	S15P	probably benign	Het
Chrnb3	G	A	8: 27,883,884 (GRCm39)	W207*	probably null	Het
Cmpk2	C	T	12: 26,528,022 (GRCm39)	T413M	probably damaging	Het
Coq4	T	A	2: 29,678,562 (GRCm39)	Y63N	probably damaging	Het
Depdc5	T	A	5: 33,148,117 (GRCm39)	S1478T	probably damaging	Het
Etf1	A	G	18: 35,039,134 (GRCm39)	F378L	probably benign	Het
Exoc6	T	C	19: 37,574,341 (GRCm39)	V324A	probably benign	Het
Frem2	A	G	3: 53,560,907 (GRCm39)	L1200P	probably benign	Het
Gbp3	A	G	3: 142,270,707 (GRCm39)		probably null	Het
Gm14295	C	T	2: 176,499,165 (GRCm39)	T5I	possibly damaging	Het
Hps4	T	C	5: 112,522,875 (GRCm39)	S578P	probably benign	Het
Kctd13	T	A	7: 126,544,254 (GRCm39)	D317E	probably damaging	Het
Kdm4b	T	A	17: 56,706,509 (GRCm39)	D881E	probably benign	Het
Klf10	G	A	15: 38,296,171 (GRCm39)	P473L	probably damaging	Het
Lrch3	A	T	16: 32,799,775 (GRCm39)	D371V	probably damaging	Het
Msh2	T	C	17: 87,985,758 (GRCm39)	S112P	possibly damaging	Het
Msh3	A	G	13: 92,352,047 (GRCm39)	V1036A	possibly damaging	Het
Mybl1	A	G	1: 9,746,484 (GRCm39)	V392A	possibly damaging	Het
Myo7a	T	C	7: 97,722,380 (GRCm39)	I1182V	possibly damaging	Het
Nectin1	A	C	9: 43,715,090 (GRCm39)	E442A	probably benign	Het
Nscme3l	T	A	19: 5,553,757 (GRCm39)	H8L	probably benign	Het
Obsl1	G	T	1: 75,474,884 (GRCm39)	H839N	probably benign	Het
Or4c105	T	C	2: 88,647,967 (GRCm39)	F151L	probably benign	Het
Or9i1b	T	C	19: 13,896,674 (GRCm39)	C97R	possibly damaging	Het
Pacs1	C	T	19: 5,195,098 (GRCm39)		probably null	Het
Pcdh17	G	T	14: 84,686,063 (GRCm39)	E843D	probably benign	Het
Pcnt	A	G	10: 76,228,572 (GRCm39)	L1531P	probably damaging	Het
Pdgfra	A	G	5: 75,353,129 (GRCm39)	D973G	probably damaging	Het
Pkd2	A	G	5: 104,614,800 (GRCm39)	Y214C	probably damaging	Het
Plcb1	T	C	2: 135,164,558 (GRCm39)	Y427H	probably benign	Het
Ppm1h	A	G	10: 122,743,482 (GRCm39)	N402S	possibly damaging	Het
Rassf4	T	A	6: 116,618,749 (GRCm39)		probably null	Het
Ryr1	G	A	7: 28,768,068 (GRCm39)	T2856I	probably damaging	Het
Serpinb8	A	T	1: 107,533,520 (GRCm39)	K192*	probably null	Het
Slfn14	T	G	11: 83,170,198 (GRCm39)	Q482P	possibly damaging	Het
Spata2	A	G	2: 167,327,205 (GRCm39)	V64A	probably benign	Het
Tax1bp1	T	G	6: 52,706,314 (GRCm39)	V105G	probably damaging	Het
Tbc1d22a	T	G	15: 86,120,021 (GRCm39)	S142A	possibly damaging	Het
Tdrd9	T	C	12: 111,992,007 (GRCm39)	F594S	probably damaging	Het
Uba3	T	C	6: 97,166,559 (GRCm39)	I281V	probably benign	Het
Uggt2	T	C	14: 119,286,595 (GRCm39)	E723G	probably benign	Het
Usp20	C	T	2: 30,901,024 (GRCm39)	S391F	probably damaging	Het
Usp24	T	A	4: 106,199,555 (GRCm39)	D166E	probably damaging	Het
Vmn1r1	A	G	1: 181,985,503 (GRCm39)	V54A	probably benign	Het
Zfp442	T	A	2: 150,250,668 (GRCm39)	E411D	unknown	Het
Zfp804a	T	C	2: 82,089,753 (GRCm39)	I1194T	probably damaging	Het

Other mutations in Gadl1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01069:Gadl1	APN	9	115,783,907 (GRCm39)	critical splice donor site	probably null
IGL01343:Gadl1	APN	9	115,903,180 (GRCm39)	makesense	probably null
IGL01693:Gadl1	APN	9	115,778,653 (GRCm39)	missense	probably damaging	1.00
IGL02106:Gadl1	APN	9	115,766,225 (GRCm39)	utr 5 prime	probably benign
IGL02740:Gadl1	APN	9	115,835,629 (GRCm39)	nonsense	probably null
IGL03063:Gadl1	APN	9	115,795,335 (GRCm39)	missense	probably damaging	1.00
IGL03104:Gadl1	APN	9	115,903,108 (GRCm39)	missense	possibly damaging	0.93
IGL03127:Gadl1	APN	9	115,777,732 (GRCm39)	missense	probably damaging	1.00
R0133:Gadl1	UTSW	9	115,770,411 (GRCm39)	missense	probably benign	0.00
R0285:Gadl1	UTSW	9	115,859,806 (GRCm39)	splice site	probably benign
R0737:Gadl1	UTSW	9	115,903,055 (GRCm39)	missense	probably damaging	0.99
R0771:Gadl1	UTSW	9	115,773,300 (GRCm39)	missense	probably damaging	1.00
R1522:Gadl1	UTSW	9	115,773,297 (GRCm39)	missense	probably damaging	1.00
R1716:Gadl1	UTSW	9	115,835,576 (GRCm39)	nonsense	probably null
R2061:Gadl1	UTSW	9	115,770,448 (GRCm39)	missense	probably damaging	1.00
R2163:Gadl1	UTSW	9	115,778,626 (GRCm39)	missense	possibly damaging	0.93
R3854:Gadl1	UTSW	9	115,835,732 (GRCm39)	nonsense	probably null
R3964:Gadl1	UTSW	9	115,794,676 (GRCm39)	missense	probably damaging	0.98
R4654:Gadl1	UTSW	9	115,770,408 (GRCm39)	missense	probably damaging	1.00
R4724:Gadl1	UTSW	9	115,783,685 (GRCm39)	missense	possibly damaging	0.81
R4765:Gadl1	UTSW	9	115,795,381 (GRCm39)	missense	probably null	0.00
R4956:Gadl1	UTSW	9	115,869,987 (GRCm39)	missense	probably benign	0.00
R5179:Gadl1	UTSW	9	115,789,448 (GRCm39)	nonsense	probably null
R5593:Gadl1	UTSW	9	115,835,718 (GRCm39)	missense	probably damaging	1.00
R5620:Gadl1	UTSW	9	115,766,230 (GRCm39)	start codon destroyed	probably benign	0.09
R6048:Gadl1	UTSW	9	115,835,769 (GRCm39)	splice site	probably null
R6458:Gadl1	UTSW	9	115,870,070 (GRCm39)	makesense	probably null
R7497:Gadl1	UTSW	9	115,903,155 (GRCm39)	missense	probably benign	0.00
R7889:Gadl1	UTSW	9	115,783,883 (GRCm39)	missense	possibly damaging	0.56
R8843:Gadl1	UTSW	9	115,835,569 (GRCm39)	missense	probably benign	0.00
R8858:Gadl1	UTSW	9	115,835,669 (GRCm39)	missense	probably damaging	1.00
R9015:Gadl1	UTSW	9	115,794,705 (GRCm39)	missense	probably benign	0.03
R9758:Gadl1	UTSW	9	115,789,519 (GRCm39)	missense	probably benign	0.09
Z1088:Gadl1	UTSW	9	115,766,338 (GRCm39)	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