Mutagenetix > Incidental Mutation

Incidental Mutation 'R7658:Glud1'

591386

Institutional Source

Beutler Lab

Gene Symbol

Glud1

Ensembl Gene

ENSMUSG00000021794

Gene Name

glutamate dehydrogenase 1

Synonyms

Glud, Gdh-X

MMRRC Submission

045703-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.944) question?

Stock #

R7658 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

34032684-34066990 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 34033114 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Valine at position 87 (E87V)

Ref Sequence

ENSEMBL: ENSMUSP00000022322 (fasta)

Gene Model

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

AlphaFold

P26443

Predicted Effect

probably benign
Transcript: ENSMUST00000022322
AA Change: E87V

PolyPhen 2 Score 0.251 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000022322
Gene: ENSMUSG00000021794
AA Change: E87V

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

probably benign
Transcript: ENSMUST00000228704

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.9%

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: 95 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1110025L11Rik	G	T	16: 88,860,618 (GRCm39)	S72Y	unknown	Het
Abca8b	T	A	11: 109,826,543 (GRCm39)	K1568N	probably benign	Het
Adcy6	T	A	15: 98,493,948 (GRCm39)	Y865F	probably benign	Het
Adgrf3	A	T	5: 30,402,204 (GRCm39)	V608D	probably benign	Het
Agbl1	G	T	7: 76,416,117 (GRCm39)	A965S	unknown	Het
Agbl3	C	T	6: 34,809,443 (GRCm39)	P690L	probably benign	Het
Akap9	C	G	5: 4,018,745 (GRCm39)	H1109D	probably benign	Het
Amt	A	C	9: 108,174,430 (GRCm39)	H65P	probably damaging	Het
Ankrd11	T	A	8: 123,620,403 (GRCm39)	T1150S	probably benign	Het
Arhgap15	A	C	2: 44,032,280 (GRCm39)	H288P	probably benign	Het
Arhgap39	A	T	15: 76,621,617 (GRCm39)	M328K	probably benign	Het
Arhgef12	T	C	9: 42,903,832 (GRCm39)	K743R	probably damaging	Het
Atg2a	T	G	19: 6,301,293 (GRCm39)	V789G	probably damaging	Het
Ccdc54	T	C	16: 50,410,844 (GRCm39)	T141A	probably benign	Het
Ccng2	C	G	5: 93,421,202 (GRCm39)	S237R	probably benign	Het
Cdh5	T	C	8: 104,856,033 (GRCm39)		probably null	Het
Cdkl3	T	C	11: 51,918,009 (GRCm39)	V404A	not run	Het
Chrm2	A	T	6: 36,500,184 (GRCm39)	I14F	probably benign	Het
Cnbp	T	C	6: 87,822,258 (GRCm39)	K89E	possibly damaging	Het
Cntn6	T	A	6: 104,627,444 (GRCm39)	D92E	probably benign	Het
Col15a1	T	C	4: 47,245,591 (GRCm39)	F114S	possibly damaging	Het
Csrnp1	A	G	9: 119,801,469 (GRCm39)	F530S	probably benign	Het
Dcun1d3	C	T	7: 119,456,891 (GRCm39)	V274M	probably damaging	Het
Dph2	T	A	4: 117,747,478 (GRCm39)	H302L	possibly damaging	Het
Fam162a	A	T	16: 35,866,770 (GRCm39)	Y118*	probably null	Het
Fam186a	A	G	15: 99,837,725 (GRCm39)	Y2840H	unknown	Het
Fto	A	G	8: 92,392,950 (GRCm39)	K466E	probably benign	Het
Gal	T	A	19: 3,463,309 (GRCm39)	Y41F	probably damaging	Het
Gigyf2	A	T	1: 87,346,860 (GRCm39)	L620F	unknown	Het
Git2	C	T	5: 114,904,550 (GRCm39)	R123H	probably damaging	Het
Gm21190	T	G	5: 15,732,923 (GRCm39)	E94A	possibly damaging	Het
Gm5592	T	C	7: 40,938,134 (GRCm39)	V472A	probably benign	Het
Gpc5	T	A	14: 115,665,620 (GRCm39)	N481K	possibly damaging	Het
Gpn2	A	G	4: 133,318,687 (GRCm39)	E304G	probably benign	Het
Gsdmc2	T	C	15: 63,696,903 (GRCm39)	T423A	probably damaging	Het
Gucy2e	G	A	11: 69,117,055 (GRCm39)	Q789*	probably null	Het
Gxylt2	T	A	6: 100,760,104 (GRCm39)	V213E	probably damaging	Het
Ighv1-75	G	A	12: 115,797,731 (GRCm39)	L64F	possibly damaging	Het
Il17re	T	C	6: 113,435,943 (GRCm39)	C30R	probably benign	Het
Il7	G	T	3: 7,669,142 (GRCm39)	D31E	probably benign	Het
Ints4	T	C	7: 97,178,460 (GRCm39)	Y687H	possibly damaging	Het
Kdelr1	T	G	7: 45,532,401 (GRCm39)	V202G	probably benign	Het
Khnyn	C	A	14: 56,124,596 (GRCm39)	Y283*	probably null	Het
Klf11	T	C	12: 24,703,670 (GRCm39)	V52A	probably damaging	Het
Klhl7	A	G	5: 24,346,284 (GRCm39)	N310S	probably benign	Het
Krt27	A	T	11: 99,240,312 (GRCm39)	L202Q	possibly damaging	Het
Lce1d	A	G	3: 92,593,354 (GRCm39)	C20R	unknown	Het
Lim2	A	T	7: 43,083,054 (GRCm39)	I80F	possibly damaging	Het
Lrrk2	T	A	15: 91,584,561 (GRCm39)	F326Y	possibly damaging	Het
Lyst	A	T	13: 13,905,061 (GRCm39)	Y3246F	possibly damaging	Het
Mafb	T	A	2: 160,208,355 (GRCm39)	H81L	possibly damaging	Het
Mfsd5	G	A	15: 102,189,312 (GRCm39)	R228H	probably benign	Het
Mmp1b	A	T	9: 7,386,675 (GRCm39)	F150I	possibly damaging	Het
Mthfd1	T	A	12: 76,317,209 (GRCm39)	L20Q	probably damaging	Het
Mxra8	A	G	4: 155,927,420 (GRCm39)	T402A	probably benign	Het
Ndc80	A	T	17: 71,815,658 (GRCm39)	L376M	probably damaging	Het
Nsd1	A	T	13: 55,425,452 (GRCm39)	R1536S	probably damaging	Het
Nup210l	C	A	3: 90,119,300 (GRCm39)	H1874Q	probably benign	Het
Nyap1	T	C	5: 137,731,236 (GRCm39)	H776R	probably benign	Het
Patj	C	A	4: 98,576,416 (GRCm39)	H1773Q	probably damaging	Het
Pax8	T	A	2: 24,326,523 (GRCm39)	T280S	probably benign	Het
Pcdhb19	A	G	18: 37,632,034 (GRCm39)	T610A	probably damaging	Het
Pde2a	A	G	7: 101,160,788 (GRCm39)	D919G	possibly damaging	Het
Pdk2	T	A	11: 94,919,791 (GRCm39)	Y240F	probably damaging	Het
Peg3	A	T	7: 6,712,609 (GRCm39)	I871N	probably damaging	Het
Pex1	A	T	5: 3,646,244 (GRCm39)		probably benign	Het
Pgm2l1	C	T	7: 99,899,535 (GRCm39)	R50W	probably damaging	Het
Phkg1	T	A	5: 129,894,764 (GRCm39)	K262N	probably damaging	Het
Pik3r4	A	G	9: 105,521,710 (GRCm39)	E92G	probably damaging	Het
Prmt6	A	T	3: 110,157,701 (GRCm39)	V196E	possibly damaging	Het
Ptprn2	T	G	12: 116,685,739 (GRCm39)	M66R	probably benign	Het
Rai14	C	T	15: 10,593,189 (GRCm39)	G152R	probably damaging	Het
Recql5	A	T	11: 115,814,102 (GRCm39)	S348T	probably damaging	Het
Rfk	T	G	19: 17,376,046 (GRCm39)		probably null	Het
Ro60	T	C	1: 143,646,611 (GRCm39)	T45A	probably damaging	Het
Selenbp1	A	T	3: 94,851,413 (GRCm39)	M389L	probably benign	Het
Sipa1l2	G	A	8: 126,219,029 (GRCm39)	R103C	probably benign	Het
Slc10a6	T	A	5: 103,777,056 (GRCm39)	S15C	probably damaging	Het
Slc12a2	G	T	18: 58,065,596 (GRCm39)	V944L	probably benign	Het
Slc16a11	T	A	11: 70,106,143 (GRCm39)	L127Q	possibly damaging	Het
Spef1l	T	C	7: 139,556,531 (GRCm39)	N152S	probably benign	Het
St6gal1	A	G	16: 23,174,978 (GRCm39)	Y272C	probably damaging	Het
Stab2	C	A	10: 86,816,999 (GRCm39)	V133F	probably benign	Het
Stradb	G	A	1: 59,031,885 (GRCm39)	V266I	probably damaging	Het
Tmem150b	A	G	7: 4,723,758 (GRCm39)	W140R	probably benign	Het
Tnnt3	A	T	7: 142,065,833 (GRCm39)	K157*	probably null	Het
Ttn	T	G	2: 76,554,113 (GRCm39)	K30863N	probably damaging	Het
Vldlr	G	A	19: 27,220,536 (GRCm39)	R592H	probably benign	Het
Vmn1r12	A	T	6: 57,135,883 (GRCm39)		probably benign	Het
Vmn2r63	A	C	7: 42,574,693 (GRCm39)	S519R	probably damaging	Het
Zbtb22	G	C	17: 34,137,471 (GRCm39)	E539Q	probably damaging	Het
Zbtb44	G	A	9: 30,965,375 (GRCm39)	A262T	probably benign	Het
Zfp280d	A	T	9: 72,231,354 (GRCm39)	N455I	probably damaging	Het
Zfp287	T	C	11: 62,616,089 (GRCm39)	N201D	probably damaging	Het
Zfp988	T	C	4: 147,416,751 (GRCm39)	L395P	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
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
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'- AGCTCCGGTCTTTACAGCTC -3'
(R):5'- AGTATCCTCTAAGGCTGCCACAC -3'

Sequencing Primer
(F):5'- CCATGTACCGCCGTCTG -3'
(R):5'- TAAGGCTGCCACACCCGAG -3'

Posted On

2019-11-12