Mutagenetix > Incidental Mutation

Incidental Mutation 'R5387:Gad1'

425313

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

042959-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R5387 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

70553072-70602014 bp(+) (GRCm38)

Type of Mutation

nonsense

DNA Base Change (assembly)

C to A at 70563851 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Serine to Stop codon at position 7 (S7*)

Ref Sequence

ENSEMBL: ENSMUSP00000119733 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000094934] [ENSMUST00000123330] [ENSMUST00000130604] [ENSMUST00000130618] [ENSMUST00000130998] [ENSMUST00000148210]

AlphaFold

P48318

Predicted Effect

probably null
Transcript: ENSMUST00000094934
AA Change: S7*

SMART Domains

Protein: ENSMUSP00000092539
Gene: ENSMUSG00000070880
AA Change: S7*

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

Predicted Effect

probably null
Transcript: ENSMUST00000123330
AA Change: S7*

SMART Domains

Protein: ENSMUSP00000116301
Gene: ENSMUSG00000070880
AA Change: S7*

Domain	Start	End	E-Value	Type
low complexity region	2	12	N/A	INTRINSIC
Pfam:Pyridoxal_deC	143	249	6.5e-31	PFAM

Predicted Effect

probably null
Transcript: ENSMUST00000130604
AA Change: S7*

SMART Domains

Protein: ENSMUSP00000117721
Gene: ENSMUSG00000070880
AA Change: S7*

Domain	Start	End	E-Value	Type
low complexity region	2	12	N/A	INTRINSIC
Pfam:Pyridoxal_deC	143	218	2.9e-18	PFAM

Predicted Effect

probably null
Transcript: ENSMUST00000130618
AA Change: S7*

Predicted Effect

probably null
Transcript: ENSMUST00000130998
AA Change: S7*

SMART Domains

Protein: ENSMUSP00000119379
Gene: ENSMUSG00000070880
AA Change: S7*

Domain	Start	End	E-Value	Type
low complexity region	2	12	N/A	INTRINSIC
Pfam:Pyridoxal_deC	143	218	2.9e-18	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000140478

Predicted Effect

probably null
Transcript: ENSMUST00000148210
AA Change: S7*

SMART Domains

Protein: ENSMUSP00000119733
Gene: ENSMUSG00000070880
AA Change: S7*

Domain	Start	End	E-Value	Type
low complexity region	2	12	N/A	INTRINSIC
Pfam:Pyridoxal_deC	143	218	2.9e-18	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000151851

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000155979

Meta Mutation Damage Score

0.9756

Coding Region Coverage

1x: 99.4%
3x: 98.8%
10x: 97.6%
20x: 96.0%

Validation Efficiency

99% (80/81)

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: 74 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
0610009B22Rik	A	T	11: 51,685,974	D32E	probably benign	Het
2210408I21Rik	T	A	13: 77,259,973	S140T	probably benign	Het
Ahnak	T	C	19: 9,003,691	S780P	probably damaging	Het
Ankhd1	C	A	18: 36,634,644	H1205N	probably damaging	Het
Ano1	T	C	7: 144,648,619	K139R	probably benign	Het
Anp32b	T	G	4: 46,468,573	C114W	probably damaging	Het
Ascl1	C	T	10: 87,492,689	A134T	probably damaging	Het
Atl2	C	T	17: 79,852,800	E453K	probably benign	Het
Aup1	C	T	6: 83,055,024	A84V	probably damaging	Het
Btbd7	A	T	12: 102,837,785	M332K	probably damaging	Het
Cacna1d	A	G	14: 30,100,751	V1107A	probably damaging	Het
Cd33	G	A	7: 43,532,053	Q114*	probably null	Het
Col4a4	C	T	1: 82,493,591	G681E	unknown	Het
Defb22	C	A	2: 152,485,906	A120S	unknown	Het
Dnah7b	A	G	1: 46,188,659	I1347M	probably damaging	Het
Efcab5	A	G	11: 77,134,842	I549T	possibly damaging	Het
Esp15	T	A	17: 39,644,577		probably null	Het
Fbxo7	A	G	10: 86,024,654	T42A	probably benign	Het
Filip1	A	G	9: 79,818,274	I1021T	probably benign	Het
Gm281	C	A	14: 13,914,438	M1I	probably null	Het
H2-Q7	C	T	17: 35,439,542	T52M	probably damaging	Het
H2-T3	C	T	17: 36,186,702	G28R	probably benign	Het
Hist1h2ad	T	A	13: 23,574,667		probably null	Het
Idh2	TCCCAGG	T	7: 80,098,331		probably benign	Het
Ift81	A	G	5: 122,555,535	Y604H	probably damaging	Het
Igsf11	A	G	16: 39,022,423	Y154C	probably damaging	Het
Kif26b	G	T	1: 178,914,876	A846S	probably benign	Het
Lnx2	G	A	5: 147,028,154	P420S	probably benign	Het
Lrit2	A	G	14: 37,072,259	T427A	probably damaging	Het
Lrrc43	G	T	5: 123,499,671		probably null	Het
Mug1	T	C	6: 121,884,394	Y1325H	probably damaging	Het
Naglu	A	T	11: 101,076,724	Y500F	probably damaging	Het
Npy4r	A	G	14: 34,146,983	M116T	probably benign	Het
Nrd1	A	G	4: 109,039,762	Y526C	probably damaging	Het
Nrp2	T	C	1: 62,762,813	S472P	probably benign	Het
Olfr102	T	A	17: 37,314,292	T31S	probably benign	Het
Olfr361	T	C	2: 37,085,719	T10A	possibly damaging	Het
Otogl	T	A	10: 107,780,933	T1828S	probably benign	Het
Pank2	C	T	2: 131,274,262	T200I	probably benign	Het
Pbrm1	A	G	14: 31,082,610	Y946C	probably damaging	Het
Pde12	A	T	14: 26,666,453	S437T	probably benign	Het
Pikfyve	A	G	1: 65,265,268	K1710E	possibly damaging	Het
Plcd3	A	G	11: 103,078,455	S229P	probably damaging	Het
Polr3a	T	C	14: 24,454,941	I1084V	possibly damaging	Het
Prkaa2	C	A	4: 105,040,177	D280Y	probably damaging	Het
Ptprg	T	A	14: 12,153,873	S531R	probably damaging	Het
R3hdm2	T	C	10: 127,485,434	S620P	probably damaging	Het
Rab33b	A	G	3: 51,493,455	T117A	probably damaging	Het
Rasal2	T	C	1: 157,157,765	D804G	possibly damaging	Het
Rbp3	A	G	14: 33,956,413	T773A	possibly damaging	Het
Rrnad1	A	T	3: 87,930,011		probably benign	Het
Rspry1	A	G	8: 94,638,286	T185A	possibly damaging	Het
Sec61a2	G	T	2: 5,882,545		probably benign	Het
Setx	C	T	2: 29,147,594	R1364C	probably benign	Het
Shtn1	G	T	19: 59,038,369	L97M	probably damaging	Het
Slc35f1	T	C	10: 53,108,164	L340P	probably damaging	Het
Slc45a1	T	A	4: 150,643,909		probably benign	Het
Slmap	T	C	14: 26,459,933	E386G	probably benign	Het
Smc2	C	T	4: 52,475,096	A924V	probably benign	Het
Sp110	C	G	1: 85,589,118	E219D	probably damaging	Het
Tecta	G	A	9: 42,375,063	L766F	probably damaging	Het
Tle3	C	T	9: 61,407,489		probably null	Het
Top3a	A	G	11: 60,762,490	F53L	probably damaging	Het
Trem1	T	C	17: 48,241,513	I26T	possibly damaging	Het
Ttc7b	G	T	12: 100,446,963	Q199K	possibly damaging	Het
Ubap2l	T	C	3: 90,006,596	Y975C	probably benign	Het
Ubxn11	C	A	4: 134,123,426	D196E	probably damaging	Het
Unc80	A	G	1: 66,530,021	H945R	possibly damaging	Het
Usp15	A	G	10: 123,131,286	I405T	probably damaging	Het
Uty	C	T	Y: 1,189,339	E138K	probably damaging	Het
Wapl	A	G	14: 34,677,295	E107G	probably benign	Het
Wbp1l	T	C	19: 46,644,457		probably null	Het
Zfp184	T	G	13: 21,949,640		probably benign	Het
Zfp36	A	C	7: 28,377,868	L205R	possibly damaging	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
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
R7941:Gad1	UTSW	2	70594585	splice site	probably null
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
R9017:Gad1	UTSW	2	70585862	missense	probably benign	0.01
R9207:Gad1	UTSW	2	70579202	critical splice donor site	probably null
R9250:Gad1	UTSW	2	70579199	missense	probably damaging	1.00
R9417:Gad1	UTSW	2	70587372	missense	possibly damaging	0.75
R9433:Gad1	UTSW	2	70593463	missense
R9589:Gad1	UTSW	2	70585940	missense	possibly damaging	0.93
R9620:Gad1	UTSW	2	70574276	missense	possibly damaging	0.54
R9675:Gad1	UTSW	2	70585856	missense	probably damaging	1.00
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'- GTTGCGCCTCTAGACTTGAGAG -3'
(R):5'- AGGGCCCCATTTGTTTCTCAG -3'

Sequencing Primer
(F):5'- AGTCCCAGAGCTAGCGAG -3'
(R):5'- AGCCTCCATCATTTCTACGC -3'

Posted On

2016-08-04