Mutagenetix > Incidental Mutation

Incidental Mutation 'R0009:Glud1'

40495

Institutional Source

Beutler Lab

Gene Symbol

Glud1

Ensembl Gene

ENSMUSG00000021794

Gene Name

glutamate dehydrogenase 1

Synonyms

Gdh-X, Glud

MMRRC Submission

038304-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.939) question?

Stock #

R0009 (G1)

Quality Score

183

Status

Validated

Chromosome

Chromosomal Location

34310727-34345265 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 34334268 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Glycine to Serine at position 300 (G300S)

Ref Sequence

ENSEMBL: ENSMUSP00000022322 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000022322]

AlphaFold

P26443

Predicted Effect

probably benign
Transcript: ENSMUST00000022322
AA Change: G300S

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000022322
Gene: ENSMUSG00000021794
AA Change: G300S

Domain	Start	End	E-Value	Type
low complexity region	8	33	N/A	INTRINSIC
Pfam:ELFV_dehydrog_N	112	242	1.3e-63	PFAM
ELFV_dehydrog	265	554	1.33e-88	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000159784

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000161593

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000162912

Predicted Effect

unknown
Transcript: ENSMUST00000163955
AA Change: G1S

SMART Domains

Protein: ENSMUSP00000130934
Gene: ENSMUSG00000021794
AA Change: G1S

Domain	Start	End	E-Value	Type
ELFV_dehydrog	2	139	5.91e-31	SMART

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 96.7%
20x: 93.7%

Validation Efficiency

100% (68/68)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes glutamate dehydrogenase, which is a mitochondrial matrix enzyme that catalyzes the oxidative deamination of glutamate to alpha-ketoglutarate and ammonia. This enzyme has an important role in regulating amino acid-induced insulin secretion. It is allosterically activated by ADP and inhibited by GTP and ATP. Activating mutations in this gene are a common cause of congenital hyperinsulinism. Alternative splicing of this gene results in multiple transcript variants. The related glutamate dehydrogenase 2 gene on the human X-chromosome originated from this gene via retrotransposition and encodes a soluble form of glutamate dehydrogenase. Related pseudogenes have been identified on chromosomes 10, 18 and X. [provided by RefSeq, Jan 2016]
PHENOTYPE: Mice homozygous for a conditionally allele activated in beta cells exhibit reduced glucose-stimulated insulin secretion and disorganization of pancreatic islets. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 66 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A1bg	T	G	15: 60,919,633		probably benign	Het
Abcg4	T	G	9: 44,277,649		probably benign	Het
Afm	C	A	5: 90,545,384		probably benign	Het
Ahrr	G	A	13: 74,283,024		probably benign	Het
Aplnr	T	A	2: 85,137,276		probably null	Het
Arih2	T	A	9: 108,611,727	H264L	probably damaging	Het
Atp1a1	A	T	3: 101,579,835	I886N	possibly damaging	Het
Bmf	A	T	2: 118,549,622	V14E	probably damaging	Het
Ccdc116	T	C	16: 17,144,039	E15G	probably damaging	Het
Ccdc175	T	C	12: 72,135,965	N427D	possibly damaging	Het
Cfap53	A	G	18: 74,299,176	H45R	probably benign	Het
Chd3	A	G	11: 69,349,906	L1569P	probably damaging	Het
Cntn2	G	A	1: 132,516,180	Q457*	probably null	Het
Coro1a	A	T	7: 126,701,413		probably benign	Het
Cracr2b	T	A	7: 141,463,759	L91Q	probably damaging	Het
Ctdspl	T	C	9: 119,020,046		probably null	Het
Dip2b	T	A	15: 100,169,312	L565Q	probably damaging	Het
Dip2c	T	A	13: 9,621,903	C1004S	probably damaging	Het
Dnah11	A	T	12: 118,045,522	I2135N	possibly damaging	Het
Dnah14	A	G	1: 181,769,407		probably benign	Het
Dnase1	T	C	16: 4,038,946	V147A	probably damaging	Het
Dusp8	T	C	7: 142,082,054		probably benign	Het
Fer1l6	T	C	15: 58,662,787	Y1828H	probably damaging	Het
Flvcr1	A	G	1: 191,008,191	V544A	probably benign	Het
Fsd1l	T	C	4: 53,687,209	V311A	probably benign	Het
Gm4847	C	T	1: 166,630,486	V433I	probably benign	Het
Gstm3	T	G	3: 107,967,840	Y62S	probably damaging	Het
Gtse1	C	T	15: 85,862,435	P151S	probably benign	Het
Herc2	T	C	7: 56,207,812	S4048P	probably benign	Het
Hp1bp3	T	A	4: 138,221,683	I19K	probably benign	Het
Htr7	C	A	19: 36,041,540		probably benign	Het
Il1a	C	T	2: 129,309,074	D10N	probably damaging	Het
Il22ra2	A	T	10: 19,624,458	N39I	probably damaging	Het
Kcnn4	T	C	7: 24,379,255	C267R	possibly damaging	Het
Larp1	A	G	11: 58,055,473	K879R	possibly damaging	Het
Lcn5	T	A	2: 25,661,405		probably benign	Het
Lep	T	A	6: 29,068,972	C7*	probably null	Het
Magi2	A	T	5: 20,611,055	Y747F	probably benign	Het
Mast4	T	C	13: 102,742,058	T1223A	probably damaging	Het
Mcc	C	T	18: 44,445,933	E803K	probably damaging	Het
Mtmr4	T	C	11: 87,611,508	I796T	probably benign	Het
Myef2	A	T	2: 125,108,978	D312E	probably benign	Het
Myl3	A	C	9: 110,767,929	D119A	probably damaging	Het
Myo19	T	A	11: 84,888,169		probably null	Het
Naa15	T	G	3: 51,470,219	H763Q	probably damaging	Het
Pde5a	C	T	3: 122,824,902		probably benign	Het
Plpp2	C	T	10: 79,527,244	R184H	probably benign	Het
Rab19	T	G	6: 39,389,687	L179V	probably damaging	Het
Rims2	T	A	15: 39,534,966	M1087K	probably damaging	Het
Riox2	C	A	16: 59,489,367	D361E	probably benign	Het
Sh3rf1	T	A	8: 61,226,293	V123E	probably damaging	Het
Slc35e1	A	T	8: 72,484,709	N318K	probably damaging	Het
Slc9a2	A	T	1: 40,763,602	E604V	probably benign	Het
Srp72	T	C	5: 76,987,885	S221P	probably damaging	Het
Tbx19	A	T	1: 165,160,520	S15T	possibly damaging	Het
Tcea2	A	G	2: 181,685,817	T112A	probably benign	Het
Tesk1	T	A	4: 43,445,368	D230E	probably damaging	Het
Tm4sf5	C	T	11: 70,510,712	A179V	probably damaging	Het
Tnr	G	T	1: 159,852,416	G320V	probably damaging	Het
Trappc11	A	T	8: 47,503,320	C874S	possibly damaging	Het
Trpm3	T	A	19: 22,914,446	Y885N	probably damaging	Het
Unc5a	T	A	13: 55,002,879	C505S	probably damaging	Het
Vmn1r28	G	A	6: 58,265,717	A182T	probably benign	Het
Xpo5	T	C	17: 46,204,786		probably benign	Het
Zfp637	C	A	6: 117,845,668	H252Q	probably damaging	Het
Zfp646	T	A	7: 127,880,731	D693E	probably damaging	Het

Other mutations in Glud1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00229:Glud1	APN	14	34336130	missense	probably benign
IGL00973:Glud1	APN	14	34319942	missense	probably damaging	1.00
IGL01896:Glud1	APN	14	34319905	missense	probably benign	0.00
IGL02442:Glud1	APN	14	34335438	nonsense	probably null
IGL03242:Glud1	APN	14	34334280	missense	probably benign	0.00
PIT4283001:Glud1	UTSW	14	34336172	missense	probably damaging	0.97
R0009:Glud1	UTSW	14	34334268	missense	probably benign
R0845:Glud1	UTSW	14	34329394	unclassified	probably benign
R1765:Glud1	UTSW	14	34325584	splice site	probably benign
R3870:Glud1	UTSW	14	34325580	splice site	probably benign
R4645:Glud1	UTSW	14	34311106	missense	probably damaging	1.00
R4773:Glud1	UTSW	14	34321825	critical splice donor site	probably null
R4883:Glud1	UTSW	14	34335390	missense	possibly damaging	0.56
R5912:Glud1	UTSW	14	34311343	critical splice donor site	probably null
R6356:Glud1	UTSW	14	34311216	missense	probably benign
R6443:Glud1	UTSW	14	34339927	missense	probably benign	0.02
R7658:Glud1	UTSW	14	34311157	missense	probably benign	0.25
R7806:Glud1	UTSW	14	34343649	missense	probably damaging	1.00
R7817:Glud1	UTSW	14	34329287	critical splice acceptor site	probably null
R7862:Glud1	UTSW	14	34325522	missense	possibly damaging	0.74
R8178:Glud1	UTSW	14	34343707	missense	probably damaging	1.00
R8398:Glud1	UTSW	14	34311271	missense	probably benign	0.06
R9130:Glud1	UTSW	14	34335392	missense
R9523:Glud1	UTSW	14	34339974	missense	probably benign
R9765:Glud1	UTSW	14	34338838	nonsense	probably null
X0013:Glud1	UTSW	14	34338823	missense	probably damaging	1.00
Z1177:Glud1	UTSW	14	34310869	unclassified	probably benign

Predicted Primers

PCR Primer
(F):5'- CCAGAAGAGACCTCAGTCCTTCCTTTA -3'
(R):5'- CCAAAAGAAGTTGGTGACAGTCACGTT -3'

Sequencing Primer
(F):5'- tcaggaaaacgagcactctac -3'
(R):5'- gtgagacggacgagcag -3'

Posted On

2013-05-23