Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL03242:Glud1'

414873

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Glud1

Ensembl Gene

ENSMUSG00000021794

Gene Name

glutamate dehydrogenase 1

Synonyms

Gdh-X, Glud

Accession Numbers

Is this an essential gene?

Probably essential (E-score: 0.938) question?

Stock #

IGL03242

Quality Score

Status

Chromosome

Chromosomal Location

34310727-34345265 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 34334280 bp

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Leucine at position 304 (F304L)

Ref Sequence

ENSEMBL: ENSMUSP00000022322 (fasta)

Gene Model

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

Predicted Effect

probably benign
Transcript: ENSMUST00000022322
AA Change: F304L

PolyPhen 2 Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)

SMART Domains

Protein: ENSMUSP00000022322
Gene: ENSMUSG00000021794
AA Change: F304L

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: F5L

SMART Domains

Protein: ENSMUSP00000130934
Gene: ENSMUSG00000021794
AA Change: F5L

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

Coding Region Coverage

Validation Efficiency

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: 46 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1600015I10Rik	T	C	6: 48,932,545	F575L	possibly damaging	Het
4930562C15Rik	T	C	16: 4,849,325	W221R	unknown	Het
Ank2	A	G	3: 126,928,805	F1000L	possibly damaging	Het
Bahcc1	T	C	11: 120,268,300		probably benign	Het
BC024139	T	C	15: 76,120,320	M679V	probably benign	Het
BC027072	A	G	17: 71,750,271	S804P	probably benign	Het
Carmil2	A	G	8: 105,691,320		probably benign	Het
Catsperg2	A	G	7: 29,725,479		probably benign	Het
Chrnb4	A	T	9: 55,035,528	I154K	probably damaging	Het
Clec2e	A	C	6: 129,095,026	L130W	probably damaging	Het
Coro2b	G	T	9: 62,428,961	Y281*	probably null	Het
Dlk2	A	G	17: 46,302,977	Y386C	probably benign	Het
Dnah7a	A	T	1: 53,620,723	F709I	probably benign	Het
Exoc1	T	C	5: 76,559,007	L467P	probably damaging	Het
Fkbp2	A	G	19: 6,978,612	V75A	probably benign	Het
Gm11639	A	C	11: 105,106,404	E140A	probably damaging	Het
Gsr	T	A	8: 33,685,599	V291E	probably benign	Het
Kap	A	G	6: 133,851,800		probably benign	Het
Kmt2a	G	T	9: 44,848,392	T720N	probably damaging	Het
Lrrtm4	T	C	6: 80,022,088	I161T	probably benign	Het
Lyst	T	A	13: 13,656,881	L1630*	probably null	Het
Med13l	A	G	5: 118,747,445	S1488G	probably benign	Het
Mlxip	A	G	5: 123,440,061	K147E	probably damaging	Het
Nalcn	T	C	14: 123,321,487	E810G	possibly damaging	Het
Olfr474	T	C	7: 107,955,481	V280A	possibly damaging	Het
Olfr683	G	A	7: 105,144,266	S15F	probably benign	Het
Olfr710	A	G	7: 106,944,918	F28L	possibly damaging	Het
Piezo2	T	C	18: 63,011,538		probably benign	Het
Scgb2b7	A	T	7: 31,705,081	C65S	probably damaging	Het
Serpina3j	G	A	12: 104,319,701	A372T	possibly damaging	Het
Slc28a3	G	A	13: 58,574,249	Q274*	probably null	Het
Ssfa2	C	T	2: 79,643,471	R189*	probably null	Het
Stk36	T	C	1: 74,623,352	F543S	possibly damaging	Het
Tfrc	T	C	16: 32,630,112	S690P	probably damaging	Het
Tg	C	A	15: 66,683,798	Q780K	probably damaging	Het
Top1	T	A	2: 160,715,733	H578Q	probably damaging	Het
Treh	A	G	9: 44,685,337	T463A	possibly damaging	Het
Treml1	G	A	17: 48,365,988		probably benign	Het
Trpm2	A	G	10: 77,917,734	V1312A	probably benign	Het
Ttc41	T	A	10: 86,776,819	*1319K	probably null	Het
Tulp2	A	G	7: 45,521,858	I354M	probably damaging	Het
Ugt2b35	T	C	5: 87,007,395	L363P	probably damaging	Het
Usp13	A	T	3: 32,902,069	M496L	probably benign	Het
Virma	T	C	4: 11,527,669	S1187P	possibly damaging	Het
Wdr76	T	A	2: 121,542,470	C593S	probably damaging	Het
Zfp446	G	A	7: 12,979,325	A97T	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
PIT4283001:Glud1	UTSW	14	34336172	missense	probably damaging	0.97
R0009:Glud1	UTSW	14	34334268	missense	probably benign
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
R7945:Glud1	UTSW	14	34325522	missense	possibly damaging	0.74
X0013:Glud1	UTSW	14	34338823	missense	probably damaging	1.00
Z1177:Glud1	UTSW	14	34310869	unclassified	probably benign

Posted On

2016-08-02