Mutagenetix > Incidental Mutation

Incidental Mutation 'R7862:Glud1'

607597

Institutional Source

Beutler Lab

Gene Symbol

Glud1

Ensembl Gene

ENSMUSG00000021794

Gene Name

glutamate dehydrogenase 1

Synonyms

Glud, Gdh-X

MMRRC Submission

045915-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.934) question?

Stock #

R7862 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

34032684-34066990 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to G at 34047479 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Valine at position 198 (L198V)

Ref Sequence

ENSEMBL: ENSMUSP00000022322 (fasta)

Gene Model

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

AlphaFold

P26443

Predicted Effect

possibly damaging
Transcript: ENSMUST00000022322
AA Change: L198V

PolyPhen 2 Score 0.743 (Sensitivity: 0.85; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000022322
Gene: ENSMUSG00000021794
AA Change: L198V

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.8%

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: 64 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2410004B18Rik	A	C	3: 145,649,624 (GRCm39)	*181S	probably null	Het
Abcc10	G	T	17: 46,626,458 (GRCm39)	S661*	probably null	Het
Abtb2	C	T	2: 103,532,626 (GRCm39)	R475W	probably damaging	Het
Cep97	T	C	16: 55,726,084 (GRCm39)	D673G	probably benign	Het
Chaf1b	T	C	16: 93,684,983 (GRCm39)	M144T	possibly damaging	Het
Chd8	T	C	14: 52,451,734 (GRCm39)	D1372G	probably damaging	Het
Chmp6	G	A	11: 119,807,836 (GRCm39)		probably null	Het
Cst12	T	C	2: 148,631,495 (GRCm39)	V72A	probably damaging	Het
D1Pas1	G	A	1: 186,700,349 (GRCm39)	G93R	probably damaging	Het
Dhx34	C	A	7: 15,944,448 (GRCm39)	V589F	probably damaging	Het
Dlg5	G	A	14: 24,295,280 (GRCm39)	P80L	probably damaging	Het
Dmrta1	C	A	4: 89,576,561 (GRCm39)	H6N	probably benign	Het
Dop1b	T	C	16: 93,546,851 (GRCm39)	L285P	probably damaging	Het
Dpy19l1	T	C	9: 24,386,730 (GRCm39)	Y188C	probably damaging	Het
Ehbp1l1	C	T	19: 5,770,851 (GRCm39)	R230Q	probably benign	Het
Ep300	T	G	15: 81,534,954 (GRCm39)	V2337G	probably damaging	Het
Fh1	A	T	1: 175,442,400 (GRCm39)	V150E	probably damaging	Het
Fkbp11	G	A	15: 98,624,389 (GRCm39)	R122*	probably null	Het
Fkbp5	C	T	17: 28,631,013 (GRCm39)	E251K	probably damaging	Het
Fmnl1	A	G	11: 103,071,756 (GRCm39)	K88E	probably damaging	Het
Frrs1	T	C	3: 116,685,529 (GRCm39)	V300A	possibly damaging	Het
Gsdmc	A	T	15: 63,649,845 (GRCm39)	W349R	possibly damaging	Het
Hacd1	T	C	2: 14,050,013 (GRCm39)	H64R	probably damaging	Het
Haus2	T	A	2: 120,443,570 (GRCm39)	D75E	probably benign	Het
Hmcn1	A	T	1: 150,682,172 (GRCm39)	F459L	probably damaging	Het
Ighe	A	T	12: 113,235,428 (GRCm39)	V272E		Het
Iqgap1	C	T	7: 80,393,636 (GRCm39)	R647H	probably benign	Het
Jmy	T	C	13: 93,635,703 (GRCm39)	I38V	possibly damaging	Het
Kcnh1	G	T	1: 191,873,167 (GRCm39)		probably benign	Het
Kctd20	C	T	17: 29,181,849 (GRCm39)	A167V	probably damaging	Het
Klhl38	A	T	15: 58,178,395 (GRCm39)	V525E	probably damaging	Het
Krit1	A	G	5: 3,862,788 (GRCm39)	D259G	probably damaging	Het
Med1	A	T	11: 98,052,036 (GRCm39)	C443S	probably benign	Het
Mllt6	T	C	11: 97,556,631 (GRCm39)	V107A	probably benign	Het
Myl7	A	G	11: 5,847,157 (GRCm39)	M132T	probably benign	Het
Myo10	T	C	15: 25,666,522 (GRCm39)	V11A	probably damaging	Het
Nipbl	T	C	15: 8,355,236 (GRCm39)	I1642V	probably benign	Het
Or4a47	T	C	2: 89,665,468 (GRCm39)	T274A	probably benign	Het
Or6c214	T	C	10: 129,591,224 (GRCm39)	T32A	probably benign	Het
Or7g25	C	A	9: 19,160,736 (GRCm39)		probably benign	Het
Or8b3b	C	T	9: 38,584,624 (GRCm39)	V39M	probably benign	Het
Pcdhb2	C	T	18: 37,429,113 (GRCm39)	A362V	probably benign	Het
Pnp2	A	T	14: 51,201,016 (GRCm39)	D167V	possibly damaging	Het
Rasa1	G	A	13: 85,403,530 (GRCm39)	T282I	probably damaging	Het
Rp1l1	A	G	14: 64,265,476 (GRCm39)	D354G	probably damaging	Het
Rpap1	C	T	2: 119,605,893 (GRCm39)		probably null	Het
Rsf1	CGGCGGCGG	CGGCGGCGGGGGCGGCGG	7: 97,229,130 (GRCm39)		probably benign	Het
Shank3	A	G	15: 89,389,648 (GRCm39)	D415G	possibly damaging	Het
Slc12a1	A	G	2: 125,003,014 (GRCm39)	I182V	probably damaging	Het
Slc6a13	A	G	6: 121,312,589 (GRCm39)	Y441C	probably damaging	Het
Sltm	G	T	9: 70,479,446 (GRCm39)	E193*	probably null	Het
Spag9	T	C	11: 94,002,892 (GRCm39)	I1134T	possibly damaging	Het
Spta1	G	A	1: 174,025,351 (GRCm39)		probably null	Het
Stk3	A	G	15: 35,115,732 (GRCm39)	V29A	possibly damaging	Het
Tgfbr1	A	T	4: 47,403,489 (GRCm39)	I365F	probably damaging	Het
Thpo	C	T	16: 20,547,540 (GRCm39)	V24I	probably benign	Het
Tle1	A	C	4: 72,117,552 (GRCm39)	L36R	probably damaging	Het
Togaram2	T	C	17: 71,996,168 (GRCm39)	V57A	probably benign	Het
Ttll9	C	T	2: 152,848,895 (GRCm39)	A459V	probably benign	Het
Ush1c	T	C	7: 45,870,848 (GRCm39)	I330V	probably damaging	Het
Usp34	T	C	11: 23,414,718 (GRCm39)	M2906T		Het
Vmn2r28	A	T	7: 5,493,613 (GRCm39)	M111K	probably benign	Het
Vmn2r97	T	C	17: 19,167,416 (GRCm39)	C557R	probably damaging	Het
Zfp873	T	A	10: 81,896,109 (GRCm39)	I280K	probably benign	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
R3870:Glud1	UTSW	14	34,047,537 (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
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'- TACTGGGAGTGTCTTTCCAGCC -3'
(R):5'- ACCTGGTTTCTAGAAGGAAAAGGAC -3'

Sequencing Primer
(F):5'- GCAGGCCTTTAATCCCAGC -3'
(R):5'- TCTAGAAGGAAAAGGACAACTATACC -3'

Posted On

2019-12-20