Mutagenetix > Incidental Mutation

Incidental Mutation 'PIT4283001:Glud1'

554380

Institutional Source

Beutler Lab

Gene Symbol

Glud1

Ensembl Gene

ENSMUSG00000021794

Gene Name

glutamate dehydrogenase 1

Synonyms

Glud, Gdh-X

Accession Numbers

Essential gene?

Probably essential (E-score: 0.934) question?

Stock #

PIT4283001 (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 A at 34058129 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Asparagine at position 380 (I380N)

Ref Sequence

ENSEMBL: ENSMUSP00000022322 (fasta)

Gene Model

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

AlphaFold

P26443

Predicted Effect

probably damaging
Transcript: ENSMUST00000022322
AA Change: I380N

PolyPhen 2 Score 0.974 (Sensitivity: 0.76; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000022322
Gene: ENSMUSG00000021794
AA Change: I380N

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

SMART Domains

Protein: ENSMUSP00000130934
Gene: ENSMUSG00000021794
AA Change: I81N

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

Coding Region Coverage

1x: 93.2%
3x: 91.1%
10x: 86.5%
20x: 76.2%

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: 49 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2610028H24Rik	A	C	10: 76,285,093 (GRCm39)	M1L	probably benign	Het
Aacs	C	A	5: 125,561,719 (GRCm39)	A119D	probably damaging	Het
Abcb1b	T	A	5: 8,863,693 (GRCm39)	V216D	probably damaging	Het
Adap2	T	A	11: 80,068,089 (GRCm39)	L367H	probably damaging	Het
Adcy7	T	A	8: 89,042,120 (GRCm39)	M373K	probably damaging	Het
Arhgap31	A	G	16: 38,429,354 (GRCm39)	L507P	probably damaging	Het
Brinp3	C	T	1: 146,777,161 (GRCm39)	T536I	probably damaging	Het
Cacna1b	T	C	2: 24,521,953 (GRCm39)	D1718G	probably damaging	Het
Cacna2d1	A	C	5: 16,507,292 (GRCm39)	Y347S	probably benign	Het
Carf	C	A	1: 60,167,161 (GRCm39)	P165T	probably benign	Het
Cplx3	T	C	9: 57,523,359 (GRCm39)	E66G	probably damaging	Het
Dnaaf5	A	G	5: 139,151,917 (GRCm39)	T523A	probably benign	Het
Dnajc10	T	C	2: 80,161,739 (GRCm39)	S326P	probably benign	Het
Eif4enif1	A	T	11: 3,184,464 (GRCm39)	E528D	probably damaging	Het
Elp2	G	A	18: 24,755,187 (GRCm39)	D392N	probably damaging	Het
Fat1	T	C	8: 45,482,577 (GRCm39)	S3079P	probably damaging	Het
Fat1	G	T	8: 45,490,244 (GRCm39)	V3719F	probably damaging	Het
Fat3	T	A	9: 15,917,897 (GRCm39)	S1509C	possibly damaging	Het
Fcsk	A	G	8: 111,614,064 (GRCm39)	V693A	probably benign	Het
Frmpd4	C	T	X: 166,512,030 (GRCm39)	R8H	possibly damaging	Het
Gnl2	A	G	4: 124,940,099 (GRCm39)	S324G	probably damaging	Het
Gramd1b	C	T	9: 40,366,752 (GRCm39)	G72D	probably benign	Het
Gramd2b	A	T	18: 56,622,735 (GRCm39)	E299V	probably damaging	Het
Grin1	C	T	2: 25,187,864 (GRCm39)	R544H	probably damaging	Het
Ifitm7	A	T	16: 13,801,471 (GRCm39)	V96E	probably damaging	Het
Lsm14b	T	A	2: 179,674,336 (GRCm39)	M293K	probably benign	Het
Marf1	T	A	16: 13,946,432 (GRCm39)	T1230S	probably benign	Het
Morc2b	T	A	17: 33,355,042 (GRCm39)	H910L	probably benign	Het
Mylip	A	G	13: 45,560,110 (GRCm39)	N247S	possibly damaging	Het
Nup50l	A	G	6: 96,142,696 (GRCm39)	I116T	probably benign	Het
Or4a73	T	C	2: 89,420,572 (GRCm39)	M296V	probably benign	Het
Osbpl3	T	C	6: 50,323,068 (GRCm39)	S264G	probably benign	Het
Pds5b	C	T	5: 150,701,774 (GRCm39)	R802W	probably damaging	Het
Pik3cg	T	C	12: 32,255,864 (GRCm39)	E41G	probably damaging	Het
Plk3	A	G	4: 116,990,489 (GRCm39)	I112T	probably damaging	Het
Pwp2	A	G	10: 78,020,921 (GRCm39)	M1T	probably null	Het
Rtel1	T	C	2: 180,988,683 (GRCm39)	I417T	probably benign	Het
Sirt1	A	T	10: 63,157,565 (GRCm39)	N616K	probably benign	Het
Sirt6	T	C	10: 81,458,252 (GRCm39)	S334G	possibly damaging	Het
Strc	T	C	2: 121,205,788 (GRCm39)	Y827C	probably damaging	Het
Taf1b	T	C	12: 24,597,594 (GRCm39)	Y385H	possibly damaging	Het
Tgm5	T	C	2: 120,902,066 (GRCm39)	E201G	possibly damaging	Het
Thbd	G	C	2: 148,249,003 (GRCm39)	N288K	probably benign	Het
Ush2a	T	A	1: 188,169,064 (GRCm39)	N1068K	probably benign	Het
Vmn2r52	T	C	7: 9,904,756 (GRCm39)	E361G	possibly damaging	Het
Vps13d	T	C	4: 144,835,158 (GRCm39)	N2736S		Het
Vwa5b1	A	G	4: 138,327,574 (GRCm39)	L334P	probably damaging	Het
Zan	A	G	5: 137,398,355 (GRCm39)	S4226P	unknown	Het
Zdhhc24	T	C	19: 4,928,778 (GRCm39)	M1T	probably null	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
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
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'- AGCTCTTACAAAACGGACTTTG -3'
(R):5'- TTGGGAACATGCACAGATGC -3'

Sequencing Primer
(F):5'- GCTCTTACAAAACGGACTTTGTATAG -3'
(R):5'- CACAGATGCTAGGGAAATACTCATAG -3'

Posted On

2019-06-07