Mutagenetix > Incidental Mutation

Incidental Mutation 'R6458:Gadl1'

517442

Institutional Source

Beutler Lab

Gene Symbol

Gadl1

Ensembl Gene

ENSMUSG00000056880

Gene Name

glutamate decarboxylase-like 1

Synonyms

1110027M19Rik

MMRRC Submission

044593-MU

Accession Numbers

Essential gene?

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

Stock #

R6458 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

115713947-115905243 bp(+) (GRCm39)

Type of Mutation

makesense

DNA Base Change (assembly)

T to A at 115870070 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Stop codon to Lysine at position 479 (*479K)

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 benign
Transcript: ENSMUST00000069651

SMART Domains

Protein: ENSMUSP00000077694
Gene: ENSMUSG00000056880

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

noncoding transcript
Transcript: ENSMUST00000117563

Predicted Effect

probably null
Transcript: ENSMUST00000119291
AA Change: *479K

SMART Domains

Protein: ENSMUSP00000112433
Gene: ENSMUSG00000056880
AA Change: *479K

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 benign
Transcript: ENSMUST00000121770

SMART Domains

Protein: ENSMUSP00000113240
Gene: ENSMUSG00000056880

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: 99.9%
3x: 99.7%
10x: 97.8%
20x: 92.3%

Validation Efficiency

100% (56/56)

Allele List at MGI

Other mutations in this stock

Total: 53 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acot8	A	G	2: 164,646,655 (GRCm39)	V28A	possibly damaging	Het
Ak1	T	A	2: 32,520,385 (GRCm39)	M61K	probably damaging	Het
Akap12	T	C	10: 4,305,148 (GRCm39)	S653P	probably damaging	Het
Anapc4	G	A	5: 53,021,895 (GRCm39)	R659H	possibly damaging	Het
Arel1	T	C	12: 84,987,159 (GRCm39)	N86D	possibly damaging	Het
Bco1	A	G	8: 117,854,245 (GRCm39)	D390G	possibly damaging	Het
Ccr1l1	A	T	9: 123,778,203 (GRCm39)	D81E	probably damaging	Het
Chd1	A	T	17: 15,950,864 (GRCm39)	N185I	probably benign	Het
Clca4b	T	G	3: 144,617,088 (GRCm39)	N854T	possibly damaging	Het
Col4a4	T	C	1: 82,433,546 (GRCm39)	T1466A	unknown	Het
Cxcr4	T	C	1: 128,516,831 (GRCm39)	I277V	probably benign	Het
Dgkq	A	G	5: 108,802,242 (GRCm39)	V441A	possibly damaging	Het
Dnah10	G	T	5: 124,886,333 (GRCm39)	L3030F	probably damaging	Het
Epg5	T	A	18: 77,991,469 (GRCm39)	D55E	probably benign	Het
Ermap	A	T	4: 119,035,337 (GRCm39)	N550K	probably damaging	Het
Fnbp1l	A	T	3: 122,350,089 (GRCm39)	I374N	probably damaging	Het
Gm5591	T	A	7: 38,218,459 (GRCm39)	T805S	probably damaging	Het
H2-T3	A	T	17: 36,497,911 (GRCm39)	M334K	possibly damaging	Het
Ihh	C	T	1: 74,985,601 (GRCm39)	A295T	probably damaging	Het
Il18r1	T	A	1: 40,530,342 (GRCm39)	Y356*	probably null	Het
Lingo3	A	G	10: 80,671,150 (GRCm39)	V260A	probably damaging	Het
Lrp2	T	G	2: 69,335,500 (GRCm39)	M1408L	probably benign	Het
Mical1	C	A	10: 41,360,731 (GRCm39)	H657N	probably benign	Het
Mpp2	T	A	11: 101,971,595 (GRCm39)	M12L	probably benign	Het
Muc16	A	T	9: 18,553,017 (GRCm39)	D4425E	probably benign	Het
Muc4	T	A	16: 32,579,694 (GRCm39)		probably null	Het
Myt1l	T	A	12: 29,945,298 (GRCm39)	F1021Y	unknown	Het
Nbas	T	C	12: 13,338,750 (GRCm39)	S197P	probably damaging	Het
Nckap1	T	C	2: 80,342,893 (GRCm39)		probably null	Het
Nek1	T	G	8: 61,553,046 (GRCm39)	V903G	probably benign	Het
Or14c43	A	G	7: 86,114,888 (GRCm39)	I90V	probably damaging	Het
Or1e18-ps1	T	G	11: 73,279,517 (GRCm39)	S112R	probably damaging	Het
Or4p22	T	A	2: 88,317,562 (GRCm39)	I162N	possibly damaging	Het
Or8b40	T	C	9: 38,027,350 (GRCm39)	V91A	possibly damaging	Het
Ppm1j	T	C	3: 104,688,560 (GRCm39)	V53A	probably benign	Het
Ralgapb	T	A	2: 158,286,540 (GRCm39)	D328E	probably damaging	Het
Rgma	T	A	7: 73,059,442 (GRCm39)	V88E	probably damaging	Het
Slc30a6	A	G	17: 74,730,108 (GRCm39)	T333A	probably damaging	Het
Spr	T	C	6: 85,114,039 (GRCm39)		probably null	Het
Srek1	A	T	13: 103,880,076 (GRCm39)	V494E	probably benign	Het
Ston1	A	T	17: 88,942,731 (GRCm39)	T46S	probably benign	Het
Stox2	T	C	8: 47,645,079 (GRCm39)	K858E	possibly damaging	Het
Thoc1	G	A	18: 9,993,333 (GRCm39)	R564Q	probably benign	Het
Thoc2l	A	T	5: 104,670,169 (GRCm39)	I1564L	probably benign	Het
Tmc5	T	A	7: 118,244,539 (GRCm39)	N472K	probably damaging	Het
Ttc41	A	G	10: 86,594,134 (GRCm39)	T856A	possibly damaging	Het
Ttn	A	T	2: 76,608,854 (GRCm39)	W17721R	probably damaging	Het
Vmn1r69	A	G	7: 10,314,365 (GRCm39)	I43T	probably benign	Het
Vmn2r56	T	A	7: 12,427,984 (GRCm39)	I761F	probably damaging	Het
Zfp109	T	C	7: 23,927,870 (GRCm39)	D521G	probably benign	Het
Zfp516	A	G	18: 83,005,475 (GRCm39)	H793R	probably benign	Het
Zfp800	A	T	6: 28,244,215 (GRCm39)	I250N	probably damaging	Het
Zpbp	T	A	11: 11,358,538 (GRCm39)	Y243F	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
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
R9459:Gadl1	UTSW	9	115,794,679 (GRCm39)	missense	probably damaging	1.00
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'- TGGAATTTGACTGCACGGCG -3'
(R):5'- ACTACCACATGACCCTGCTTG -3'

Sequencing Primer
(F):5'- CTGCACGGCGGGTTCTTTTC -3'
(R):5'- CACATGACCCTGCTTGAATAAATAG -3'

Posted On

2018-05-21