Mutagenetix > Incidental Mutation

Incidental Mutation 'R5912:Glud1'

461079

Institutional Source

Beutler Lab

Gene Symbol

Glud1

Ensembl Gene

ENSMUSG00000021794

Gene Name

glutamate dehydrogenase 1

Synonyms

Glud, Gdh-X

MMRRC Submission

044109-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.934) question?

Stock #

R5912 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

34032684-34066990 bp(+) (GRCm39)

Type of Mutation

critical splice donor site (1 bp from exon)

DNA Base Change (assembly)

G to A at 34033300 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000022322 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000022322] [ENSMUST00000111917] [ENSMUST00000227375] [ENSMUST00000228704]

AlphaFold

P26443

Predicted Effect

probably null
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

probably benign
Transcript: ENSMUST00000111917

SMART Domains

Protein: ENSMUSP00000107548
Gene: ENSMUSG00000041471

Domain	Start	End	E-Value	Type
low complexity region	66	75	N/A	INTRINSIC
low complexity region	163	177	N/A	INTRINSIC
Pfam:FAM35_C	694	866	4.6e-84	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000227375

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000228132

Predicted Effect

probably benign
Transcript: ENSMUST00000228704

Meta Mutation Damage Score

0.9494

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 98.2%
20x: 94.8%

Validation Efficiency

100% (52/52)

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
5031439G07Rik	A	T	15: 84,839,897 (GRCm39)	C166S	possibly damaging	Het
Ahnak	T	A	19: 8,989,267 (GRCm39)	M3517K	probably damaging	Het
Asap2	T	C	12: 21,256,344 (GRCm39)	V214A	probably damaging	Het
Atp13a4	A	G	16: 29,275,389 (GRCm39)	V365A	probably benign	Het
Bivm	G	T	1: 44,165,573 (GRCm39)	G8*	probably null	Het
Cc2d2a	A	C	5: 43,877,772 (GRCm39)	D1043A	probably damaging	Het
Cdh2	A	C	18: 16,773,507 (GRCm39)	I331S	possibly damaging	Het
Clip3	A	C	7: 29,998,295 (GRCm39)	D247A	probably benign	Het
Csf3r	A	T	4: 125,923,753 (GRCm39)	I88F	probably damaging	Het
Cyp2j13	A	T	4: 95,945,079 (GRCm39)	N316K	probably damaging	Het
Dnah12	T	A	14: 26,491,965 (GRCm39)	C1133*	probably null	Het
Gm5805	A	G	15: 81,857,018 (GRCm39)		noncoding transcript	Het
Gsg1l2	G	T	11: 67,665,540 (GRCm39)		probably null	Het
Ikzf1	C	A	11: 11,698,464 (GRCm39)	S105*	probably null	Het
Kif18b	A	G	11: 102,803,817 (GRCm39)	S448P	probably benign	Het
Klhl31	C	A	9: 77,563,012 (GRCm39)	N592K	probably damaging	Het
Kmt2c	A	G	5: 25,552,467 (GRCm39)	F1239L	possibly damaging	Het
Lama5	A	G	2: 179,837,268 (GRCm39)	Y1014H	probably damaging	Het
Macf1	A	C	4: 123,290,951 (GRCm39)	L3980R	probably damaging	Het
Magi1	A	T	6: 93,685,126 (GRCm39)	S524T	possibly damaging	Het
Nlrp4f	A	T	13: 65,342,722 (GRCm39)	Y308N	probably damaging	Het
Or1e33	A	C	11: 73,738,501 (GRCm39)	I150R	possibly damaging	Het
Or3a1c	A	T	11: 74,046,046 (GRCm39)	E22V	possibly damaging	Het
Rfx5	G	A	3: 94,866,029 (GRCm39)		probably benign	Het
Scn1b	C	T	7: 30,817,228 (GRCm39)	V165M	probably damaging	Het
Sema4c	A	C	1: 36,593,469 (GRCm39)	V41G	possibly damaging	Het
Serpini1	G	T	3: 75,523,914 (GRCm39)	G174V	probably benign	Het
Sh2b1	T	C	7: 126,070,642 (GRCm39)	E353G	probably damaging	Het
Slc7a6	G	T	8: 106,906,289 (GRCm39)	V174L	probably benign	Het
Smg1	A	T	7: 117,753,809 (GRCm39)		probably benign	Het
Spag9	A	G	11: 93,935,251 (GRCm39)	N21D	probably damaging	Het
Spdye4c	C	T	2: 128,437,994 (GRCm39)	R245*	probably null	Het
Sulf1	A	G	1: 12,856,976 (GRCm39)		probably benign	Het
Swt1	A	G	1: 151,287,160 (GRCm39)	S111P	probably damaging	Het
Syne2	G	A	12: 75,955,721 (GRCm39)		probably null	Het
Tanc1	T	C	2: 59,622,030 (GRCm39)	V383A	possibly damaging	Het
Tbc1d10b	G	T	7: 126,799,033 (GRCm39)	A491E	probably damaging	Het
Tek	A	G	4: 94,686,877 (GRCm39)	T132A	probably damaging	Het
Traf3	A	G	12: 111,221,783 (GRCm39)	I290V	probably benign	Het
Traf5	A	G	1: 191,730,030 (GRCm39)		probably benign	Het
Ttn	A	T	2: 76,640,687 (GRCm39)	I13687N	probably damaging	Het
Unc5c	A	G	3: 141,494,767 (GRCm39)	D415G	probably damaging	Het
Ust	A	G	10: 8,173,825 (GRCm39)	Y227H	probably benign	Het
Vmn2r100	A	G	17: 19,752,071 (GRCm39)	N705D	probably damaging	Het
Wnk2	T	C	13: 49,214,250 (GRCm39)	E1444G	probably damaging	Het
Ylpm1	C	T	12: 85,087,660 (GRCm39)	P1148L	probably damaging	Het
Zbtb5	A	G	4: 44,993,750 (GRCm39)	S545P	probably benign	Het
Zfp710	A	G	7: 79,731,222 (GRCm39)	D133G	probably benign	Het
Zfp866	A	T	8: 70,218,934 (GRCm39)	C229S	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
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'- CCAGCATCGTAGAGGACAAG -3'
(R):5'- AGGCTGGCATATTACGTGG -3'

Sequencing Primer
(F):5'- CTGGTGGAAGACCTGAAGACCC -3'
(R):5'- AGAACTGGGCTGGGCCGAGTA -3'

Posted On

2017-02-28