Mutagenetix > Incidental Mutation

Incidental Mutation 'R2223:Glul'

241594

Institutional Source

Beutler Lab

Gene Symbol

Glul

Ensembl Gene

ENSMUSG00000026473

Gene Name

glutamate-ammonia ligase

Synonyms

Glns, GS

MMRRC Submission

040224-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R2223 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

153775692-153785469 bp(+) (GRCm39)

Type of Mutation

critical splice donor site (2 bp from exon)

DNA Base Change (assembly)

T to A at 153782243 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000114377 (fasta)

Gene Model

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

AlphaFold

P15105

Predicted Effect

probably null
Transcript: ENSMUST00000086199

SMART Domains

Protein: ENSMUSP00000083375
Gene: ENSMUSG00000026473

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 null
Transcript: ENSMUST00000139476

SMART Domains

Protein: ENSMUSP00000114377
Gene: ENSMUSG00000026473

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

probably benign
Transcript: ENSMUST00000140685

SMART Domains

Protein: ENSMUSP00000123157
Gene: ENSMUSG00000026473

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

Meta Mutation Damage Score

0.9600

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.2%
20x: 94.8%

Validation Efficiency

100% (59/59)

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
Abhd18	A	G	3: 40,889,296 (GRCm39)		probably benign	Het
Acvr1b	C	T	15: 101,100,924 (GRCm39)	A362V	probably benign	Het
Adamts5	A	C	16: 85,696,194 (GRCm39)	L321R	probably damaging	Het
Adamtsl1	A	C	4: 86,306,762 (GRCm39)	D1392A	probably benign	Het
Afdn	T	C	17: 14,103,999 (GRCm39)		probably benign	Het
Aph1b	A	T	9: 66,691,921 (GRCm39)	M121K	probably damaging	Het
Aspg	G	A	12: 112,080,868 (GRCm39)	A120T	probably damaging	Het
Atp8b1	T	A	18: 64,697,428 (GRCm39)	N472I	possibly damaging	Het
B4galt3	C	A	1: 171,101,613 (GRCm39)	H196N	probably damaging	Het
Cdcp3	A	T	7: 130,849,186 (GRCm39)		probably null	Het
Cfd	A	T	10: 79,728,039 (GRCm39)		probably null	Het
Cntnap5b	A	G	1: 100,141,412 (GRCm39)	E242G	probably damaging	Het
Col9a2	C	G	4: 120,911,455 (GRCm39)	R599G	probably damaging	Het
Cradd	A	C	10: 95,011,735 (GRCm39)	V135G	probably benign	Het
Cry1	A	G	10: 84,979,617 (GRCm39)	C460R	probably damaging	Het
Cryz	A	T	3: 154,324,191 (GRCm39)	N192I	possibly damaging	Het
Cyp2d11	T	A	15: 82,274,332 (GRCm39)	M350L	probably benign	Het
Emsy	T	C	7: 98,239,982 (GRCm39)	E1091G	possibly damaging	Het
Exoc3l4	C	G	12: 111,392,586 (GRCm39)	A471G	possibly damaging	Het
Fam184a	G	A	10: 53,531,175 (GRCm39)	T733M	probably damaging	Het
Fmo2	C	T	1: 162,725,813 (GRCm39)	C21Y	probably damaging	Het
Gm5174	T	A	10: 86,492,372 (GRCm39)		noncoding transcript	Het
Gtpbp2	A	G	17: 46,478,153 (GRCm39)	I434V	probably benign	Het
Kctd10	G	T	5: 114,505,410 (GRCm39)	R195S	probably benign	Het
Lrrc38	T	A	4: 143,096,419 (GRCm39)	C243*	probably null	Het
Luc7l2	T	C	6: 38,542,659 (GRCm39)		probably benign	Het
Magi2	T	A	5: 20,670,670 (GRCm39)	V111D	probably damaging	Het
Map3k5	T	C	10: 19,943,666 (GRCm39)	V590A	possibly damaging	Het
Megf11	G	A	9: 64,567,713 (GRCm39)	G401S	possibly damaging	Het
Mgat4d	G	A	8: 84,082,301 (GRCm39)		probably benign	Het
Mroh1	T	C	15: 76,292,245 (GRCm39)		probably null	Het
Mx1	T	C	16: 97,256,432 (GRCm39)		probably benign	Het
Nlrp1b	A	G	11: 71,046,815 (GRCm39)		probably benign	Het
Ntrk3	T	C	7: 77,848,600 (GRCm39)	I759V	probably damaging	Het
Or6c210	T	A	10: 129,495,678 (GRCm39)	M1K	probably null	Het
Pde8b	T	C	13: 95,179,955 (GRCm39)	N318S	probably damaging	Het
Pkd1l1	T	C	11: 8,839,063 (GRCm39)	T874A	probably benign	Het
Pkd1l1	T	C	11: 8,900,422 (GRCm39)	T40A	probably benign	Het
Prdm2	T	C	4: 142,861,469 (GRCm39)	N607S	possibly damaging	Het
Ptprn	A	T	1: 75,234,581 (GRCm39)		probably benign	Het
Setx	T	G	2: 29,038,549 (GRCm39)	I1678S	possibly damaging	Het
Setx	GTGGCT	GT	2: 29,044,073 (GRCm39)	1814	probably null	Het
Snap91	T	C	9: 86,674,580 (GRCm39)	T544A	possibly damaging	Het
Sp8	G	A	12: 118,813,473 (GRCm39)	G443S	probably damaging	Het
Stk39	C	T	2: 68,144,923 (GRCm39)	G384S	probably damaging	Het
Sva	T	A	6: 42,015,357 (GRCm39)	M1K	probably null	Het
Trip10	A	G	17: 57,570,039 (GRCm39)	D568G	possibly damaging	Het
Trpa1	A	T	1: 14,973,480 (GRCm39)	F279L	probably null	Het
Ttc39b	T	C	4: 83,150,999 (GRCm39)	N532S	probably benign	Het
Ube2w	A	G	1: 16,668,183 (GRCm39)	S97P	possibly damaging	Het
Uvssa	C	T	5: 33,549,407 (GRCm39)	T356I	probably damaging	Het
Vmn1r25	A	C	6: 57,956,223 (GRCm39)	L22R	probably damaging	Het
Vmn2r112	T	G	17: 22,820,214 (GRCm39)	M29R	possibly damaging	Het
Vmn2r71	T	A	7: 85,273,301 (GRCm39)	M705K	probably benign	Het
Zfp516	C	A	18: 82,973,895 (GRCm39)	A31D	possibly 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
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
R4595:Glul	UTSW	1	153,778,796 (GRCm39)	missense	possibly damaging	0.95
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'- ATAAAACATGGTGGTTAGGCCTGG -3'
(R):5'- GTCACTTTAAATTCTAACCACCTCTGG -3'

Sequencing Primer
(F):5'- GGTCAGTCTCTCCTGTGACCAG -3'
(R):5'- CTAACCACCTCTGGATGTGAG -3'

Posted On

2014-10-15