Mutagenetix > Incidental Mutations

Incidental Mutation 'R7941:Gad1'

656366

Institutional Source

Beutler Lab

Gene Symbol

Gad1

Ensembl Gene

ENSMUSG00000070880

Gene Name

glutamate decarboxylase 1

Synonyms

GAD25, GAD67, Gad-1, Z49976, GAD44, EP10

MMRRC Submission

Accession Numbers

Is this an essential gene?

Essential (E-score: 1.000) question?

Stock #

R7941 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

70553072-70602014 bp(+) (GRCm38)

Type of Mutation

splice site

DNA Base Change (assembly)

T to A at 70594585 bp

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000092539 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000094934]

Predicted Effect

probably null
Transcript: ENSMUST00000094934

SMART Domains

Protein: ENSMUSP00000092539
Gene: ENSMUSG00000070880

Domain	Start	End	E-Value	Type
low complexity region	2	12	N/A	INTRINSIC
Pfam:Pyridoxal_deC	143	517	7e-154	PFAM
Pfam:Beta_elim_lyase	231	375	3.2e-6	PFAM
Pfam:Aminotran_5	273	380	2.4e-6	PFAM

Meta Mutation Damage Score

0.9756

Coding Region Coverage

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

Validation Efficiency

98% (43/44)

MGI Phenotype

FUNCTION: The protein encoded by this gene is an enzyme that catalyzes the production of gamma-aminobutyric acid from L-glutamic acid. Alternative splicing of this gene results in two products, the predominant 67 kDa isoform and a smaller 25 kDa isoform. The smaller isoform is not thought to retain catalytic activity. [provided by RefSeq, Aug 2015]
PHENOTYPE: Homozygotes for targeted null mutations die at birth with cleft palate and apnea and exhibit reduced levels of glutamic acid decarboxylase and gamma-aminobutyric acid in the cerebral cortex. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 51 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abl1	T	C	2: 31,689,679		probably benign	Het
AI467606	A	G	7: 127,092,421	E56G	probably damaging	Het
Ak9	C	T	10: 41,409,137	P1403S	unknown	Het
Akr1c14	A	G	13: 4,059,713	K28E	probably benign	Het
Ampd2	C	A	3: 108,080,116	V134L	probably benign	Het
Anks1b	A	T	10: 90,577,155	N55I	probably damaging	Het
C87414	A	T	5: 93,638,028	V131D	probably benign	Het
Cabyr	T	C	18: 12,744,768	L54P	probably damaging	Het
Cachd1	A	T	4: 100,988,173	N954I	probably damaging	Het
Cenpf	A	G	1: 189,657,286	S1450P	probably damaging	Het
Chst10	T	A	1: 38,871,691	I131L	probably damaging	Het
Cluh	A	T	11: 74,659,757	M270L	probably benign	Het
Dagla	T	C	19: 10,271,503	H29R	probably damaging	Het
Dusp5	A	G	19: 53,537,533	N202S	probably benign	Het
Elavl3	A	G	9: 22,036,316	I110T	possibly damaging	Het
Fam222b	G	T	11: 78,155,059	G482V	possibly damaging	Het
Fbxl7	A	G	15: 26,543,613	L316P	probably damaging	Het
H2-K1	T	C	17: 33,999,331	T204A	probably benign	Het
Hmcn1	A	G	1: 150,650,084	V3296A	possibly damaging	Het
Hyal1	T	C	9: 107,578,100	F203S	probably damaging	Het
Il16	T	A	7: 83,682,829	D181V	probably damaging	Het
Ip6k1	T	C	9: 108,024,432	F69L	probably damaging	Het
Klf4	G	A	4: 55,531,755		probably benign	Het
Lsr	T	G	7: 30,973,095	I27L	probably benign	Het
Mettl4	A	T	17: 94,733,194		probably null	Het
Mpdz	A	G	4: 81,282,750	V1902A	probably benign	Het
Nfkbiz	C	T	16: 55,821,944	G37D	probably damaging	Het
Olfr1131	T	C	2: 87,628,904	V31A	probably benign	Het
Otogl	A	T	10: 107,806,802		probably null	Het
Pcdh1	T	C	18: 38,199,080	D429G	probably damaging	Het
Prelid2	A	T	18: 41,932,751	L73*	probably null	Het
Psg20	T	A	7: 18,681,177		probably null	Het
Ptprb	GAGACCCTCGGGAGCACTGCAAAGACCCTCGGGAGCACTGCAAAGACCCTCGGGAGCACTGCAAAGACCCTCGGGAGCACT	GAGACCCTCGGGAGCACTGCAAAGACCCTCGGGAGCACTGCAAAGACCCTCGGGAGCACT	10: 116,283,677		probably benign	Het
Rab24	C	T	13: 55,320,307		probably null	Het
Rag1	T	G	2: 101,642,346	K817T	probably benign	Het
Rgl2	T	C	17: 33,931,739	V57A	probably benign	Het
Ric1	T	C	19: 29,533,259	M80T	probably damaging	Het
Sh3rf3	T	C	10: 59,007,061	I283T	probably damaging	Het
Skint2	C	A	4: 112,625,990	N197K	probably damaging	Het
Snapc4	A	G	2: 26,376,718	I126T	probably damaging	Het
Srcap	GTCCTCCTCCTCCTCCTCCTGCTCCTCCTCCTCCTCCT	GTCCTCCTCCTCCTCCTGCTCCTCCTCCTCCTCCT	7: 127,558,290		probably benign	Het
Svip	T	C	7: 52,003,413	K51R	probably benign	Het
Syndig1	T	A	2: 149,899,788	V98E	probably benign	Het
Tshz1	A	T	18: 84,015,392	M297K	possibly damaging	Het
Ttn	A	G	2: 76,919,350	V3785A	probably benign	Het
Usf3	T	C	16: 44,215,561	S135P	probably damaging	Het
Vmn2r10	A	T	5: 108,996,440	M548K	probably damaging	Het
Vmn2r92	T	C	17: 18,184,837	S748P	possibly damaging	Het
Zbtb39	A	G	10: 127,743,540	Y661C	probably damaging	Het
Zfp804b	A	G	5: 6,770,042	I1007T	probably benign	Het
Zscan4-ps2	A	G	7: 11,517,672	I212V	probably benign	Het

Other mutations in Gad1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01794:Gad1	APN	2	70597168	missense	probably benign
IGL01907:Gad1	APN	2	70574126	missense	possibly damaging	0.64
IGL02596:Gad1	APN	2	70594684	missense	probably damaging	1.00
IGL02654:Gad1	APN	2	70572781	missense	possibly damaging	0.88
IGL02998:Gad1	APN	2	70589819	missense	probably damaging	1.00
PIT4581001:Gad1	UTSW	2	70599667	missense	probably benign	0.05
R0102:Gad1	UTSW	2	70587239	critical splice donor site	probably null
R0454:Gad1	UTSW	2	70579201	missense	probably damaging	1.00
R0576:Gad1	UTSW	2	70594652	missense	probably benign	0.27
R1386:Gad1	UTSW	2	70574123	missense	possibly damaging	0.88
R1677:Gad1	UTSW	2	70574177	missense	probably damaging	1.00
R1842:Gad1	UTSW	2	70574253	missense	probably benign	0.12
R1907:Gad1	UTSW	2	70579138	missense	possibly damaging	0.79
R1933:Gad1	UTSW	2	70587392	missense	possibly damaging	0.91
R3029:Gad1	UTSW	2	70594690	missense	probably benign
R4085:Gad1	UTSW	2	70589848	missense	probably benign	0.36
R4321:Gad1	UTSW	2	70589830	missense	probably damaging	1.00
R4324:Gad1	UTSW	2	70589830	missense	probably damaging	1.00
R4687:Gad1	UTSW	2	70600720	missense	possibly damaging	0.94
R4986:Gad1	UTSW	2	70600693	missense	probably benign
R5387:Gad1	UTSW	2	70563851	nonsense	probably null
R5603:Gad1	UTSW	2	70589829	missense	probably damaging	0.98
R6500:Gad1	UTSW	2	70593436	missense	probably damaging	0.98
R7146:Gad1	UTSW	2	70587362	missense	probably benign	0.00
R7352:Gad1	UTSW	2	70594750	missense	probably benign	0.00
R7559:Gad1	UTSW	2	70563912	critical splice donor site	probably null
R7579:Gad1	UTSW	2	70587132	missense	possibly damaging	0.90
R7809:Gad1	UTSW	2	70597259	missense	possibly damaging	0.80
R8290:Gad1	UTSW	2	70574266	missense	probably benign	0.00
R8353:Gad1	UTSW	2	70600713	missense	probably benign	0.00
R8453:Gad1	UTSW	2	70600713	missense	probably benign	0.00
X0026:Gad1	UTSW	2	70589866	missense	probably benign	0.00
Z1177:Gad1	UTSW	2	70579130	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- TGTCCAGATGTCTCTTAGAGGG -3'
(R):5'- TTGCTTTCCACATCAGCCAG -3'

Sequencing Primer
(F):5'- CAGTGAGGCCCTTGTTTTAGACATC -3'
(R):5'- TCAGCCAGAACTTGAAGATGTC -3'

Posted On

2020-10-29