Mutagenetix > Incidental Mutation

Incidental Mutation 'R4595:Glul'

344301

Institutional Source

Beutler Lab

Gene Symbol

Glul

Ensembl Gene

ENSMUSG00000026473

Gene Name

glutamate-ammonia ligase

Synonyms

Glns, GS

MMRRC Submission

041811-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R4595 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

153775692-153785469 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 153778796 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glycine to Aspartic acid at position 35 (G35D)

Ref Sequence

ENSEMBL: ENSMUSP00000123157 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000086199] [ENSMUST00000123490] [ENSMUST00000139476] [ENSMUST00000140685]

AlphaFold

P15105

Predicted Effect

possibly damaging
Transcript: ENSMUST00000086199
AA Change: G35D

PolyPhen 2 Score 0.954 (Sensitivity: 0.79; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000083375
Gene: ENSMUSG00000026473
AA Change: G35D

Domain	Start	End	E-Value	Type
Pfam:Gln-synt_N	24	104	1.1e-15	PFAM
Gln-synt_C	110	359	6.09e-74	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000123490

SMART Domains

Protein: ENSMUSP00000115023
Gene: ENSMUSG00000045968

Domain	Start	End	E-Value	Type
Pfam:DUF716	71	195	6.1e-36	PFAM

Predicted Effect

possibly damaging
Transcript: ENSMUST00000139476
AA Change: G35D

PolyPhen 2 Score 0.921 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000114377
Gene: ENSMUSG00000026473
AA Change: G35D

Domain	Start	End	E-Value	Type
Pfam:Gln-synt_N	24	104	8.8e-23	PFAM
Pfam:Gln-synt_C	110	199	1.3e-19	PFAM

Predicted Effect

possibly damaging
Transcript: ENSMUST00000140685
AA Change: G35D

PolyPhen 2 Score 0.954 (Sensitivity: 0.79; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000123157
Gene: ENSMUSG00000026473
AA Change: G35D

Domain	Start	End	E-Value	Type
Pfam:Gln-synt_N	24	104	1.7e-23	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000153134

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000154576

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000183582

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000190620

Meta Mutation Damage Score

0.8615

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.2%
20x: 95.2%

Validation Efficiency

94% (62/66)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene belongs to the glutamine synthetase family. It catalyzes the synthesis of glutamine from glutamate and ammonia in an ATP-dependent reaction. This protein plays a role in ammonia and glutamate detoxification, acid-base homeostasis, cell signaling, and cell proliferation. Glutamine is an abundant amino acid, and is important to the biosynthesis of several amino acids, pyrimidines, and purines. Mutations in this gene are associated with congenital glutamine deficiency, and overexpression of this gene was observed in some primary liver cancer samples. There are six pseudogenes of this gene found on chromosomes 2, 5, 9, 11, and 12. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2014]
PHENOTYPE: Embryos homozygous for a reporter/null allele are not viable after E3.5; however, mutant E2.5 embryonic cells can survive in vitro if provided with glutamine. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 55 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2700049A03Rik	A	T	12: 71,211,321 (GRCm39)	E685V	possibly damaging	Het
2700049A03Rik	G	T	12: 71,211,320 (GRCm39)	E685*	probably null	Het
4921536K21Rik	A	G	11: 3,840,052 (GRCm39)	I115T	probably benign	Het
Acads	A	T	5: 115,251,123 (GRCm39)	N120K	probably damaging	Het
Aco1	T	A	4: 40,167,139 (GRCm39)	C118S	probably benign	Het
Alpk2	T	C	18: 65,422,819 (GRCm39)	T1493A	probably damaging	Het
AU018091	A	G	7: 3,208,268 (GRCm39)	Y480H	possibly damaging	Het
Brd4	A	T	17: 32,417,896 (GRCm39)	I86N	probably damaging	Het
Ccdc180	A	G	4: 45,945,023 (GRCm39)	E1477G	probably damaging	Het
Ccne2	A	G	4: 11,202,986 (GRCm39)	N368S	probably benign	Het
Cenpp	A	T	13: 49,794,710 (GRCm39)	F152L	probably benign	Het
Cfap46	T	A	7: 139,232,320 (GRCm39)	D881V	possibly damaging	Het
Chmp7	A	G	14: 69,958,678 (GRCm39)	V212A	probably damaging	Het
Col9a2	A	T	4: 120,902,352 (GRCm39)	K196N	probably benign	Het
Copg2	T	C	6: 30,749,449 (GRCm39)	D814G	probably damaging	Het
Dcaf13	G	A	15: 38,982,288 (GRCm39)	G85R	probably damaging	Het
Dnah9	A	G	11: 66,058,978 (GRCm39)	S106P	probably benign	Het
Dpp8	A	G	9: 64,983,085 (GRCm39)	D739G	probably damaging	Het
Drd2	T	A	9: 49,316,089 (GRCm39)	M283K	probably benign	Het
Espl1	A	G	15: 102,207,159 (GRCm39)	T208A	probably benign	Het
Gm14412	T	C	2: 177,007,005 (GRCm39)	K297E	unknown	Het
Gm21976	A	T	13: 98,442,318 (GRCm39)	R120W	probably damaging	Het
Hipk3	T	A	2: 104,271,622 (GRCm39)	T437S	probably benign	Het
Kcnd3	C	T	3: 105,566,082 (GRCm39)	A421V	probably damaging	Het
Lipn	T	G	19: 34,058,750 (GRCm39)	Y321D	probably damaging	Het
Lrwd1	A	G	5: 136,152,810 (GRCm39)	V484A	probably benign	Het
Madd	T	C	2: 90,998,009 (GRCm39)	D673G	possibly damaging	Het
Marveld1	T	A	19: 42,136,203 (GRCm39)	L39Q	probably damaging	Het
Mfsd2b	T	C	12: 4,915,807 (GRCm39)	T299A	possibly damaging	Het
Micu3	T	C	8: 40,812,438 (GRCm39)		probably benign	Het
Mmp7	T	C	9: 7,697,667 (GRCm39)	V234A	probably damaging	Het
Nhsl1	T	A	10: 18,403,357 (GRCm39)	D1329E	probably benign	Het
Or4a15	C	T	2: 89,193,669 (GRCm39)	V35M	probably damaging	Het
Or4f14b	T	C	2: 111,774,997 (GRCm39)	D268G	possibly damaging	Het
Or52a33	A	G	7: 103,289,308 (GRCm39)	F13S	probably damaging	Het
Pcdhb21	T	A	18: 37,647,568 (GRCm39)	D232E	probably damaging	Het
Pebp1	G	T	5: 117,421,475 (GRCm39)	D156E	probably benign	Het
Pik3cb	A	G	9: 98,937,459 (GRCm39)	Y745H	possibly damaging	Het
Pld2	T	C	11: 70,432,846 (GRCm39)	L170P	probably damaging	Het
Ptch1	T	C	13: 63,691,422 (GRCm39)	D277G	possibly damaging	Het
Rab11fip1	A	T	8: 27,644,603 (GRCm39)	M394K	probably damaging	Het
Rhoq	T	C	17: 87,271,754 (GRCm39)	Y57H	probably benign	Het
Setbp1	T	C	18: 78,900,731 (GRCm39)	I979V	probably benign	Het
Slc6a4	A	G	11: 76,910,689 (GRCm39)	I447V	probably benign	Het
Sos2	T	C	12: 69,663,663 (GRCm39)	K607R	probably damaging	Het
Stt3a	T	C	9: 36,646,808 (GRCm39)	I602V	probably damaging	Het
Syne2	A	T	12: 76,013,845 (GRCm39)	Q3012L	possibly damaging	Het
Taf1b	T	A	12: 24,550,441 (GRCm39)	F9I	possibly damaging	Het
Tex35	T	A	1: 156,926,909 (GRCm39)	Y195F	probably benign	Het
Tnc	T	C	4: 63,913,982 (GRCm39)	T1277A	probably damaging	Het
Tnfsf15	G	T	4: 63,648,180 (GRCm39)	Y153*	probably null	Het
Trim5	C	A	7: 103,914,639 (GRCm39)	V477F	probably damaging	Het
Trp73	A	G	4: 154,148,874 (GRCm39)	I245T	probably damaging	Het
Zbtb16	C	T	9: 48,743,380 (GRCm39)	E311K	possibly damaging	Het
Zmynd19	A	G	2: 24,849,000 (GRCm39)	D165G	probably damaging	Het

Other mutations in Glul

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01615:Glul	APN	1	153,782,222 (GRCm39)	missense	probably benign	0.01
IGL02881:Glul	APN	1	153,782,862 (GRCm39)	missense	probably benign	0.00
R0512:Glul	UTSW	1	153,781,132 (GRCm39)	intron	probably benign
R1455:Glul	UTSW	1	153,782,845 (GRCm39)	splice site	probably null
R1589:Glul	UTSW	1	153,781,284 (GRCm39)	intron	probably benign
R1922:Glul	UTSW	1	153,783,070 (GRCm39)	missense	probably benign	0.05
R2223:Glul	UTSW	1	153,782,243 (GRCm39)	critical splice donor site	probably null
R3115:Glul	UTSW	1	153,783,038 (GRCm39)	missense	possibly damaging	0.56
R4498:Glul	UTSW	1	153,782,849 (GRCm39)	nonsense	probably null
R4541:Glul	UTSW	1	153,778,782 (GRCm39)	nonsense	probably null
R4825:Glul	UTSW	1	153,778,790 (GRCm39)	missense	probably benign	0.00
R5714:Glul	UTSW	1	153,782,243 (GRCm39)	unclassified	probably benign
R6058:Glul	UTSW	1	153,783,087 (GRCm39)	missense	probably benign	0.03
R6101:Glul	UTSW	1	153,782,177 (GRCm39)	nonsense	probably null
R6105:Glul	UTSW	1	153,782,177 (GRCm39)	nonsense	probably null
R6517:Glul	UTSW	1	153,783,779 (GRCm39)	missense	probably benign	0.10
R8076:Glul	UTSW	1	153,782,868 (GRCm39)	missense	possibly damaging	0.91
R8695:Glul	UTSW	1	153,778,769 (GRCm39)	missense	probably benign	0.17
R9280:Glul	UTSW	1	153,783,611 (GRCm39)	missense	probably benign	0.00

Predicted Primers

PCR Primer
(F):5'- CCCTACAGTGGATCCCTTTG -3'
(R):5'- ACGCCAGAGTCCATCTAAAG -3'

Sequencing Primer
(F):5'- ACAGTGGATCCCTTTGAATTCG -3'
(R):5'- ATGCAGCAGCTTACTTACGG -3'

Posted On

2015-09-25