Mutagenetix > Incidental Mutation

Incidental Mutation 'R9667:Gls'

727811

Institutional Source

Beutler Lab

Gene Symbol

Gls

Ensembl Gene

ENSMUSG00000026103

Gene Name

glutaminase

Synonyms

B230365M23Rik

MMRRC Submission

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R9667 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

52202607-52272391 bp(-) (GRCm39)

Type of Mutation

critical splice donor site (2 bp from exon)

DNA Base Change (assembly)

A to T at 52230036 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Gene Model

predicted gene model for transcript(s): [ENSMUST00000114510] [ENSMUST00000114512] [ENSMUST00000114513] [ENSMUST00000155587]

AlphaFold

D3Z7P3

Predicted Effect

probably benign
Transcript: ENSMUST00000114510

SMART Domains

Protein: ENSMUSP00000110155
Gene: ENSMUSG00000026103

Domain	Start	End	E-Value	Type
low complexity region	56	77	N/A	INTRINSIC
low complexity region	89	110	N/A	INTRINSIC
Pfam:Glutaminase	249	535	3e-127	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000114512

SMART Domains

Protein: ENSMUSP00000110157
Gene: ENSMUSG00000026103

Domain	Start	End	E-Value	Type
Pfam:Glutaminase	66	352	1.7e-125	PFAM
ANK	407	437	3.9e-6	SMART
ANK	441	470	3.6e0	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000114513

SMART Domains

Protein: ENSMUSP00000110158
Gene: ENSMUSG00000026103

Domain	Start	End	E-Value	Type
low complexity region	56	77	N/A	INTRINSIC
low complexity region	89	110	N/A	INTRINSIC
Pfam:Glutaminase	249	535	4.2e-123	PFAM
ANK	590	620	6.02e-4	SMART
ANK	624	653	5.69e2	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000129107

SMART Domains

Protein: ENSMUSP00000121408
Gene: ENSMUSG00000026103

Domain	Start	End	E-Value	Type
Pfam:Glutaminase	5	66	1e-26	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000155587

SMART Domains

Protein: ENSMUSP00000115358
Gene: ENSMUSG00000026103

Domain	Start	End	E-Value	Type
Pfam:Glutaminase	1	206	2.4e-92	PFAM

Predicted Effect

probably null
Transcript: ENSMUST00000156887

SMART Domains

Protein: ENSMUSP00000116901
Gene: ENSMUSG00000026103

Domain	Start	End	E-Value	Type
Pfam:Glutaminase	5	66	3.1e-26	PFAM
ANK	121	151	6.02e-4	SMART
ANK	155	184	5.69e2	SMART

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 98.8%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes the K-type mitochondrial glutaminase. The encoded protein is an phosphate-activated amidohydrolase that catalyzes the hydrolysis of glutamine to glutamate and ammonia. This protein is primarily expressed in the brain and kidney plays an essential role in generating energy for metabolism, synthesizing the brain neurotransmitter glutamate and maintaining acid-base balance in the kidney. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Jan 2012]
PHENOTYPE: Homozygotes for targeted null mutations die within 1 day postnatally with abnormal respiratory function and goal-oriented behavior toward dam. Mice homozygous for another allele exhibit abnormal TNFA-stimulated astrocyte extracellular vesicle release. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 88 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930563M21Rik	G	A	9: 55,890,645 (GRCm39)	Q355*	probably null	Het
Aacs	A	T	5: 125,580,691 (GRCm39)	N255I	possibly damaging	Het
Abcf2	A	G	5: 24,779,185 (GRCm39)	L121P	probably damaging	Het
Amigo1	A	G	3: 108,095,034 (GRCm39)	I178V	probably benign	Het
Ankrd13a	T	A	5: 114,933,793 (GRCm39)	N262K	probably damaging	Het
Apba2	A	G	7: 64,345,062 (GRCm39)	E84G	possibly damaging	Het
Arhgap35	A	T	7: 16,296,914 (GRCm39)	L717*	probably null	Het
Aspa	A	T	11: 73,199,625 (GRCm39)	C217*	probably null	Het
Atp5mc3	A	G	2: 73,739,567 (GRCm39)	I91T	probably damaging	Het
Birc6	T	C	17: 75,004,420 (GRCm39)	M4763T	possibly damaging	Het
Cc2d2b	A	G	19: 40,753,927 (GRCm39)	Y150C	unknown	Het
Ccdc180	C	T	4: 45,920,861 (GRCm39)	Q936*	probably null	Het
Cdc42bpg	A	G	19: 6,370,115 (GRCm39)	E1103G	probably benign	Het
Cdca2	T	C	14: 67,915,003 (GRCm39)	Q752R	probably benign	Het
Ces1b	A	T	8: 93,791,637 (GRCm39)	S321T	probably benign	Het
Cfap70	A	T	14: 20,490,690 (GRCm39)		probably null	Het
Cpox	C	T	16: 58,490,984 (GRCm39)	T65I	possibly damaging	Het
Crocc	C	T	4: 140,748,988 (GRCm39)	E1606K	probably damaging	Het
Cryzl2	T	G	1: 157,316,038 (GRCm39)	M337R	probably benign	Het
Cyp4a29	C	A	4: 115,111,630 (GRCm39)	A469D	probably damaging	Het
Dnaaf1	T	A	8: 120,306,043 (GRCm39)	Y107N	possibly damaging	Het
Dpp6	T	A	5: 27,930,604 (GRCm39)	I812N	probably damaging	Het
Elovl5	A	G	9: 77,889,947 (GRCm39)	T253A	possibly damaging	Het
Fancd2	T	A	6: 113,530,717 (GRCm39)	L450*	probably null	Het
Fbxo31	C	T	8: 122,305,208 (GRCm39)	R96H	probably damaging	Het
Gm3045	G	A	13: 56,577,253 (GRCm39)	E134K	possibly damaging	Het
Gpr158	A	G	2: 21,830,054 (GRCm39)	I700V	probably damaging	Het
H2-Aa	T	C	17: 34,502,295 (GRCm39)	I209V	probably benign	Het
Ifnar2	A	G	16: 91,184,984 (GRCm39)	D125G	probably benign	Het
Igsf8	C	A	1: 172,145,319 (GRCm39)	D278E	possibly damaging	Het
Inpp5d	T	C	1: 87,623,128 (GRCm39)	I407T	probably damaging	Het
Iqcd	A	G	5: 120,744,737 (GRCm39)	E355G	probably damaging	Het
Klra2	T	A	6: 131,219,836 (GRCm39)	D115V	probably benign	Het
Kmt2b	T	C	7: 30,287,784 (GRCm39)	E120G	unknown	Het
Lhx6	A	G	2: 35,980,979 (GRCm39)	I321T	possibly damaging	Het
Lmna	CAGCACGGTGCGTGAGC	CAGC	3: 88,389,857 (GRCm39)		probably null	Het
Lztr1	T	C	16: 17,327,000 (GRCm39)	Y37H	probably damaging	Het
Malrd1	A	T	2: 15,570,026 (GRCm39)		probably null	Het
Mtmr3	C	T	11: 4,470,890 (GRCm39)	V79I	probably damaging	Het
Nbr1	A	G	11: 101,451,261 (GRCm39)	I56M	possibly damaging	Het
Ncor2	C	T	5: 125,125,545 (GRCm39)	A580T	unknown	Het
Ndst3	A	G	3: 123,353,866 (GRCm39)	I601T	possibly damaging	Het
Nectin4	C	A	1: 171,210,165 (GRCm39)	P219Q	probably damaging	Het
Nfatc4	T	C	14: 56,066,964 (GRCm39)	V501A	probably benign	Het
Nisch	T	C	14: 30,895,646 (GRCm39)	T1015A	probably damaging	Het
Nr2c1	T	C	10: 94,017,479 (GRCm39)		probably null	Het
Nrg2	T	C	18: 36,165,430 (GRCm39)	E394G	probably benign	Het
Oas1e	A	G	5: 120,932,347 (GRCm39)	F99L	probably benign	Het
Oaz3	A	T	3: 94,341,835 (GRCm39)	Y178*	probably null	Het
Or1e35	A	G	11: 73,798,097 (GRCm39)	S74P	possibly damaging	Het
Or6c69b	A	C	10: 129,627,022 (GRCm39)	S145R	probably damaging	Het
Pcdhb20	C	T	18: 37,637,839 (GRCm39)	H122Y	probably benign	Het
Pdcd2	T	A	17: 15,747,535 (GRCm39)	M1L	probably damaging	Het
Phf11	T	C	14: 59,482,240 (GRCm39)	N171S	probably benign	Het
Plcd1	C	A	9: 118,901,698 (GRCm39)	G609W	probably damaging	Het
Plscr3	T	C	11: 69,738,631 (GRCm39)	F98L	probably benign	Het
Ppp1r8	T	C	4: 132,570,407 (GRCm39)	N6S	probably benign	Het
Prpf38b	G	A	3: 108,818,859 (GRCm39)		probably benign	Het
Rin2	T	A	2: 145,702,202 (GRCm39)	N299K	possibly damaging	Het
Serpina1d	T	G	12: 103,734,299 (GRCm39)	T2P	probably benign	Het
Slc22a16	A	G	10: 40,461,125 (GRCm39)	D330G	probably benign	Het
Slit1	G	A	19: 41,731,832 (GRCm39)	Q6*	probably null	Het
Spaca7b	T	A	8: 11,705,681 (GRCm39)	E142V	probably benign	Het
Spag9	T	C	11: 93,887,119 (GRCm39)	V8A	possibly damaging	Het
Spsb3	C	T	17: 25,105,784 (GRCm39)	T44I	unknown	Het
Srrt	T	C	5: 137,295,732 (GRCm39)	Y563C	probably damaging	Het
Syne2	A	G	12: 75,926,951 (GRCm39)	D69G	probably damaging	Het
Tcf12	A	G	9: 71,792,443 (GRCm39)	V80A	probably benign	Het
Tdpoz3	G	A	3: 93,733,336 (GRCm39)	D4N	possibly damaging	Het
Tekt2	C	T	4: 126,217,444 (GRCm39)	R207H	probably damaging	Het
Tmem132d	G	A	5: 128,061,375 (GRCm39)	T409I	possibly damaging	Het
Tmem245	G	T	4: 56,947,119 (GRCm39)	T98K	probably damaging	Het
Tmem70	A	C	1: 16,735,659 (GRCm39)	E43A	probably benign	Het
Trim25	A	T	11: 88,907,188 (GRCm39)	I516F	probably damaging	Het
Trim3	G	A	7: 105,267,455 (GRCm39)	S308L	possibly damaging	Het
Ttll9	C	T	2: 152,831,989 (GRCm39)	R189*	probably null	Het
Ttpal	T	C	2: 163,449,596 (GRCm39)		probably null	Het
Ubl4b	A	T	3: 107,461,911 (GRCm39)	H116Q	probably benign	Het
Unc80	C	A	1: 66,651,287 (GRCm39)	T1544K	possibly damaging	Het
Usp2	T	C	9: 44,003,487 (GRCm39)		probably null	Het
Usp25	T	C	16: 76,874,123 (GRCm39)		probably null	Het
Vmn1r167	C	T	7: 23,204,990 (GRCm39)	V9I	probably benign	Het
Vmn2r87	A	G	10: 130,314,776 (GRCm39)	I270T	probably damaging	Het
Vps35l	G	A	7: 118,348,915 (GRCm39)		probably null	Het
Wdr24	A	G	17: 26,046,301 (GRCm39)	D515G	possibly damaging	Het
Wdr81	T	C	11: 75,341,650 (GRCm39)	T87A		Het
Zcchc14	A	T	8: 122,331,863 (GRCm39)	L500Q	unknown	Het
Zzef1	A	G	11: 72,758,786 (GRCm39)	T1242A	probably benign	Het

Other mutations in Gls

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01339:Gls	APN	1	52,227,867 (GRCm39)	missense	probably damaging	1.00
IGL01366:Gls	APN	1	52,207,558 (GRCm39)	missense	probably damaging	1.00
IGL01367:Gls	APN	1	52,207,558 (GRCm39)	missense	probably damaging	1.00
IGL01832:Gls	APN	1	52,207,568 (GRCm39)	splice site	probably null
IGL02045:Gls	APN	1	52,258,674 (GRCm39)	missense	probably benign	0.01
LCD18:Gls	UTSW	1	52,222,526 (GRCm39)	intron	probably benign
R0268:Gls	UTSW	1	52,271,853 (GRCm39)	small deletion	probably benign
R0373:Gls	UTSW	1	52,227,858 (GRCm39)	missense	probably damaging	1.00
R0590:Gls	UTSW	1	52,251,534 (GRCm39)	unclassified	probably benign
R1440:Gls	UTSW	1	52,230,293 (GRCm39)	missense	possibly damaging	0.59
R1628:Gls	UTSW	1	52,271,835 (GRCm39)	missense	probably benign	0.06
R3684:Gls	UTSW	1	52,205,452 (GRCm39)	missense	probably damaging	1.00
R3697:Gls	UTSW	1	52,238,923 (GRCm39)	missense	possibly damaging	0.65
R3778:Gls	UTSW	1	52,208,071 (GRCm39)	missense	probably benign	0.05
R3824:Gls	UTSW	1	52,272,147 (GRCm39)	missense	possibly damaging	0.83
R4062:Gls	UTSW	1	52,235,907 (GRCm39)	missense	probably damaging	1.00
R4441:Gls	UTSW	1	52,235,322 (GRCm39)	critical splice donor site	probably null
R4740:Gls	UTSW	1	52,271,947 (GRCm39)	missense	probably damaging	0.99
R4816:Gls	UTSW	1	52,239,104 (GRCm39)	intron	probably benign
R5281:Gls	UTSW	1	52,230,316 (GRCm39)	missense	probably damaging	1.00
R5712:Gls	UTSW	1	52,235,911 (GRCm39)	missense	probably damaging	1.00
R6163:Gls	UTSW	1	52,254,735 (GRCm39)	missense	probably benign	0.00
R6357:Gls	UTSW	1	52,258,665 (GRCm39)	missense	probably damaging	0.99
R6498:Gls	UTSW	1	52,259,198 (GRCm39)	missense	probably benign
R7187:Gls	UTSW	1	52,259,139 (GRCm39)	missense	probably damaging	1.00
R7413:Gls	UTSW	1	52,254,735 (GRCm39)	missense	probably benign	0.00
R7545:Gls	UTSW	1	52,230,311 (GRCm39)	missense	probably damaging	1.00
R7627:Gls	UTSW	1	52,205,425 (GRCm39)	missense	probably benign	0.00
R7648:Gls	UTSW	1	52,235,939 (GRCm39)	missense	probably damaging	0.99
R7781:Gls	UTSW	1	52,251,492 (GRCm39)	nonsense	probably null
R7979:Gls	UTSW	1	52,230,271 (GRCm39)	missense	probably damaging	0.99
R8488:Gls	UTSW	1	52,239,012 (GRCm39)	critical splice donor site	probably null
R9179:Gls	UTSW	1	52,239,015 (GRCm39)	missense	probably damaging	1.00
R9240:Gls	UTSW	1	52,207,553 (GRCm39)	missense	probably benign	0.00
R9550:Gls	UTSW	1	52,251,373 (GRCm39)	nonsense	probably null
R9721:Gls	UTSW	1	52,251,427 (GRCm39)	missense	probably damaging	1.00
Z1176:Gls	UTSW	1	52,253,647 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- AATGCCCACATATTTCTCAAGTACC -3'
(R):5'- TTTCTCTCGCAGGGAACTAATC -3'

Sequencing Primer
(F):5'- CAGGCCTTTTGTGTGCAT -3'
(R):5'- TTCTCTCGCAGGGAACTAATCTAGAC -3'

Posted On

2022-10-06