Mutagenetix > Incidental Mutation

Incidental Mutation 'R3870:Glud1'

276532

Institutional Source

Beutler Lab

Gene Symbol

Glud1

Ensembl Gene

ENSMUSG00000021794

Gene Name

glutamate dehydrogenase 1

Synonyms

Glud, Gdh-X

MMRRC Submission

040789-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.944) question?

Stock #

R3870 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

34032684-34066990 bp(+) (GRCm39)

Type of Mutation

splice site

DNA Base Change (assembly)

T to A at 34047537 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000022322 (fasta)

Gene Model

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

AlphaFold

P26443

Predicted Effect

probably benign
Transcript: ENSMUST00000022322

SMART Domains

Protein: ENSMUSP00000022322
Gene: ENSMUSG00000021794

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: ENSMUST00000162912

Coding Region Coverage

1x: 99.2%
3x: 98.7%
10x: 97.6%
20x: 96.1%

Validation Efficiency

90% (61/68)

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: 63 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700028J19Rik	T	A	7: 43,880,828 (GRCm39)		probably null	Het
Adam22	C	A	5: 8,182,418 (GRCm39)	C514F	probably damaging	Het
Akap8	G	A	17: 32,536,813 (GRCm39)		probably benign	Het
Armcx2	A	T	X: 133,707,048 (GRCm39)	V195E	probably benign	Het
Atg7	T	C	6: 114,674,008 (GRCm39)	S301P	possibly damaging	Het
Cc2d2a	C	A	5: 43,876,033 (GRCm39)	Y1003*	probably null	Het
Ccdc93	A	G	1: 121,390,843 (GRCm39)	S272G	probably benign	Het
Ces1d	C	G	8: 93,901,714 (GRCm39)	L418F	probably benign	Het
Cntnap5a	A	G	1: 115,987,979 (GRCm39)	E170G	probably damaging	Het
Cplane1	A	T	15: 8,247,948 (GRCm39)	K1499M	probably damaging	Het
Crygs	C	T	16: 22,624,301 (GRCm39)	G102D	possibly damaging	Het
Ehd4	T	A	2: 119,967,434 (GRCm39)	D120V	probably damaging	Het
Eif4g3	T	A	4: 137,824,211 (GRCm39)	V71E	probably damaging	Het
Exoc5	A	G	14: 49,256,853 (GRCm39)		probably benign	Het
Gm10985	TTCTCTCTCTCTCTCTCT	TTCTCTCTCTCTCTCT	3: 53,752,626 (GRCm39)		probably null	Het
Gm11555	G	T	11: 99,540,816 (GRCm39)	C64*	probably null	Het
Gm5468	A	G	15: 25,414,561 (GRCm39)		probably benign	Het
Gpatch2	T	A	1: 187,054,491 (GRCm39)	L74Q	probably damaging	Het
Hnrnpa0	G	A	13: 58,275,713 (GRCm39)	R139C	probably damaging	Het
Hrh1	A	G	6: 114,457,880 (GRCm39)	Y387C	probably damaging	Het
Ldb3	A	T	14: 34,289,440 (GRCm39)	D216E	probably damaging	Het
Lingo1	A	T	9: 56,527,009 (GRCm39)	S533T	probably benign	Het
Lmtk2	T	G	5: 144,103,245 (GRCm39)		probably benign	Het
Map1s	A	G	8: 71,369,745 (GRCm39)	E939G	possibly damaging	Het
Mast1	G	A	8: 85,645,360 (GRCm39)	T695I	probably damaging	Het
Mettl21e	G	A	1: 44,245,524 (GRCm39)	R241W	probably benign	Het
Mfsd4a	G	A	1: 131,974,091 (GRCm39)	T261I	probably damaging	Het
Mmel1	T	C	4: 154,968,095 (GRCm39)	S144P	probably benign	Het
Myo16	A	T	8: 10,492,239 (GRCm39)	H727L	probably benign	Het
Ncoa6	T	C	2: 155,257,477 (GRCm39)		probably null	Het
Nipa2	T	C	7: 55,582,690 (GRCm39)	R352G	probably damaging	Het
Oaf	C	T	9: 43,134,055 (GRCm39)	R222Q	probably benign	Het
Or2ag2b	T	A	7: 106,418,047 (GRCm39)	Y252*	probably null	Het
Pard3	T	C	8: 128,136,167 (GRCm39)	S847P	probably damaging	Het
Pgbd1	C	T	13: 21,618,540 (GRCm39)	R39H	possibly damaging	Het
Plcb1	A	C	2: 135,167,591 (GRCm39)	I462L	probably damaging	Het
Prex2	T	C	1: 11,230,416 (GRCm39)	V814A	possibly damaging	Het
Rasal3	G	A	17: 32,612,522 (GRCm39)	R780W	possibly damaging	Het
Rubcnl	C	T	14: 75,278,356 (GRCm39)	P380L	probably benign	Het
Ryk	A	G	9: 102,768,427 (GRCm39)	E359G	probably damaging	Het
Sall2	C	A	14: 52,551,451 (GRCm39)	L579F	probably damaging	Het
Satb2	A	G	1: 56,930,379 (GRCm39)	S215P	probably damaging	Het
Scg3	T	C	9: 75,582,781 (GRCm39)		probably benign	Het
Slc35f5	A	G	1: 125,490,098 (GRCm39)	T65A	probably benign	Het
Snx33	T	C	9: 56,834,024 (GRCm39)	N15S	probably benign	Het
Stat2	T	A	10: 128,113,762 (GRCm39)	S180R	probably benign	Het
Stxbp2	A	G	8: 3,684,079 (GRCm39)	T129A	probably damaging	Het
Tas1r3	A	T	4: 155,945,810 (GRCm39)	C529S	probably damaging	Het
Tlr12	T	A	4: 128,510,361 (GRCm39)	M630L	probably benign	Het
Tnfrsf10b	T	G	14: 70,010,905 (GRCm39)	D103E	probably benign	Het
Togaram1	A	C	12: 65,049,419 (GRCm39)	E1285D	probably benign	Het
Tppp	A	G	13: 74,178,891 (GRCm39)	T111A	probably benign	Het
Trim12c	T	C	7: 103,997,544 (GRCm39)	Q4R	probably benign	Het
Ttbk2	T	G	2: 120,570,500 (GRCm39)	S1149R	probably damaging	Het
Uncx	T	C	5: 139,533,120 (GRCm39)	L395P	probably damaging	Het
Usp14	A	G	18: 10,002,370 (GRCm39)	S314P	possibly damaging	Het
Usp32	A	T	11: 84,897,881 (GRCm39)	Y1153*	probably null	Het
Vmn2r6	T	C	3: 64,464,042 (GRCm39)	E264G	probably damaging	Het
Vmn2r77	T	C	7: 86,461,050 (GRCm39)	F792S	probably damaging	Het
Vps13c	A	G	9: 67,792,008 (GRCm39)	I425V	probably benign	Het
Vstm4	C	T	14: 32,585,712 (GRCm39)	A93V	probably benign	Het
Xrcc6	T	A	15: 81,909,885 (GRCm39)	S97T	probably benign	Het
Zscan20	A	G	4: 128,480,218 (GRCm39)	C758R	probably damaging	Het

Other mutations in Glud1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00229:Glud1	APN	14	34,058,087 (GRCm39)	missense	probably benign
IGL00973:Glud1	APN	14	34,041,899 (GRCm39)	missense	probably damaging	1.00
IGL01896:Glud1	APN	14	34,041,862 (GRCm39)	missense	probably benign	0.00
IGL02442:Glud1	APN	14	34,057,395 (GRCm39)	nonsense	probably null
IGL03242:Glud1	APN	14	34,056,237 (GRCm39)	missense	probably benign	0.00
PIT4283001:Glud1	UTSW	14	34,058,129 (GRCm39)	missense	probably damaging	0.97
R0009:Glud1	UTSW	14	34,056,225 (GRCm39)	missense	probably benign
R0009:Glud1	UTSW	14	34,056,225 (GRCm39)	missense	probably benign
R0845:Glud1	UTSW	14	34,051,351 (GRCm39)	unclassified	probably benign
R1765:Glud1	UTSW	14	34,047,541 (GRCm39)	splice site	probably benign
R4645:Glud1	UTSW	14	34,033,063 (GRCm39)	missense	probably damaging	1.00
R4773:Glud1	UTSW	14	34,043,782 (GRCm39)	critical splice donor site	probably null
R4883:Glud1	UTSW	14	34,057,347 (GRCm39)	missense	possibly damaging	0.56
R5912:Glud1	UTSW	14	34,033,300 (GRCm39)	critical splice donor site	probably null
R6356:Glud1	UTSW	14	34,033,173 (GRCm39)	missense	probably benign
R6443:Glud1	UTSW	14	34,061,884 (GRCm39)	missense	probably benign	0.02
R7658:Glud1	UTSW	14	34,033,114 (GRCm39)	missense	probably benign	0.25
R7806:Glud1	UTSW	14	34,065,606 (GRCm39)	missense	probably damaging	1.00
R7817:Glud1	UTSW	14	34,051,244 (GRCm39)	critical splice acceptor site	probably null
R7862:Glud1	UTSW	14	34,047,479 (GRCm39)	missense	possibly damaging	0.74
R8178:Glud1	UTSW	14	34,065,664 (GRCm39)	missense	probably damaging	1.00
R8398:Glud1	UTSW	14	34,033,228 (GRCm39)	missense	probably benign	0.06
R9130:Glud1	UTSW	14	34,057,349 (GRCm39)	missense
R9523:Glud1	UTSW	14	34,061,931 (GRCm39)	missense	probably benign
R9765:Glud1	UTSW	14	34,060,795 (GRCm39)	nonsense	probably null
X0013:Glud1	UTSW	14	34,060,780 (GRCm39)	missense	probably damaging	1.00
Z1177:Glud1	UTSW	14	34,032,826 (GRCm39)	unclassified	probably benign

Predicted Primers

PCR Primer
(F):5'- ACTGGGAGTGTCTTTCCAGC -3'
(R):5'- CTGCAGCGAGAACCTGAACTTG -3'

Sequencing Primer
(F):5'- TCTACAGAGTGAGTTCCAGGAC -3'
(R):5'- GCGAGAACCTGAACTTGTTAAAAAC -3'

Posted On

2015-04-06