Mutagenetix > Incidental Mutation

Incidental Mutation 'R0373:Gls'

30571

Institutional Source

Beutler Lab

Gene Symbol

Gls

Ensembl Gene

ENSMUSG00000026103

Gene Name

glutaminase

Synonyms

B230365M23Rik

MMRRC Submission

038579-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R0373 (G1)

Quality Score

224

Status

Not validated

Chromosome

Chromosomal Location

52202607-52272391 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 52227858 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Glycine at position 79 (R79G)

Gene Model

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

AlphaFold

D3Z7P3

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000114509

SMART Domains

Protein: ENSMUSP00000110154
Gene: ENSMUSG00000026103

Domain	Start	End	E-Value	Type
Pfam:Glutaminase	18	208	2.9e-79	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000114510
AA Change: R549G

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000110155
Gene: ENSMUSG00000026103
AA Change: R549G

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 damaging
Transcript: ENSMUST00000114512
AA Change: R366G

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000110157
Gene: ENSMUSG00000026103
AA Change: R366G

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 damaging
Transcript: ENSMUST00000114513
AA Change: R549G

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000110158
Gene: ENSMUSG00000026103
AA Change: R549G

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

noncoding transcript
Transcript: ENSMUST00000123324

Predicted Effect

probably damaging
Transcript: ENSMUST00000129107
AA Change: R79G

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000121408
Gene: ENSMUSG00000026103
AA Change: R79G

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000138906

Predicted Effect

possibly damaging
Transcript: ENSMUST00000155587
AA Change: R220G

PolyPhen 2 Score 0.800 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000115358
Gene: ENSMUSG00000026103
AA Change: R220G

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000156887
AA Change: R79G

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000116901
Gene: ENSMUSG00000026103
AA Change: R79G

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000139273

Coding Region Coverage

1x: 99.1%
3x: 98.1%
10x: 95.8%
20x: 91.5%

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: 93 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930579F01Rik	A	T	3: 137,879,343 (GRCm39)	L235Q	probably damaging	Het
Aadacl4fm4	A	T	4: 144,412,790 (GRCm39)	M50K	possibly damaging	Het
Adam6b	T	A	12: 113,454,275 (GRCm39)	V364D	probably benign	Het
Akap13	T	C	7: 75,259,677 (GRCm39)	L767P	probably benign	Het
Akap13	T	A	7: 75,380,248 (GRCm39)	S2193T	probably damaging	Het
Anapc11	T	C	11: 120,496,203 (GRCm39)	V69A	probably benign	Het
Ankmy1	C	T	1: 92,823,912 (GRCm39)	R118Q	probably damaging	Het
Ankrd27	T	C	7: 35,337,478 (GRCm39)	S931P	probably benign	Het
Atp6v1c2	G	A	12: 17,338,169 (GRCm39)	R280C	probably damaging	Het
Bbs10	T	A	10: 111,135,913 (GRCm39)	I342N	probably damaging	Het
Calhm2	T	C	19: 47,121,389 (GRCm39)	D260G	possibly damaging	Het
Camk2a	A	G	18: 61,091,310 (GRCm39)	E264G	probably damaging	Het
Ccdc146	T	A	5: 21,524,543 (GRCm39)	M270L	probably benign	Het
Cdc16	A	G	8: 13,829,264 (GRCm39)	T517A	probably benign	Het
Ces1g	T	C	8: 94,057,821 (GRCm39)	H160R	probably benign	Het
Chst4	T	C	8: 110,757,026 (GRCm39)	N196S	probably damaging	Het
Ciz1	A	T	2: 32,257,479 (GRCm39)	N175Y	probably damaging	Het
Cyb5r4	G	A	9: 86,909,093 (GRCm39)	V57I	probably damaging	Het
Cyth3	A	G	5: 143,670,181 (GRCm39)		probably benign	Het
Def6	A	G	17: 28,439,154 (GRCm39)	E255G	probably damaging	Het
Dhtkd1	T	G	2: 5,916,681 (GRCm39)	Q665P	probably damaging	Het
Dsg3	A	C	18: 20,672,804 (GRCm39)	D825A	probably damaging	Het
Eif3m	T	C	2: 104,835,345 (GRCm39)	T242A	probably benign	Het
Emilin3	A	G	2: 160,751,737 (GRCm39)	F101L	probably benign	Het
Epha7	A	G	4: 28,935,700 (GRCm39)		probably null	Het
Fbxo45	A	T	16: 32,057,223 (GRCm39)	Y224N	probably damaging	Het
Fhod3	A	T	18: 25,223,161 (GRCm39)	M836L	possibly damaging	Het
Fut4	C	A	9: 14,662,506 (GRCm39)	V263F	probably damaging	Het
Ggt1	C	T	10: 75,415,104 (GRCm39)	T206M	probably benign	Het
Grhl1	T	C	12: 24,631,514 (GRCm39)	S156P	probably benign	Het
Ipo8	C	T	6: 148,676,540 (GRCm39)	S983N	probably benign	Het
Kcna7	C	T	7: 45,058,868 (GRCm39)	A385V	probably damaging	Het
Kpnb1	A	T	11: 97,075,916 (GRCm39)	L40Q	probably damaging	Het
Matn1	A	T	4: 130,677,417 (GRCm39)	S209C	probably damaging	Het
Mcc	A	G	18: 44,608,289 (GRCm39)	I501T	probably benign	Het
Mdp1	A	T	14: 55,896,832 (GRCm39)	F104L	probably damaging	Het
Mib2	A	T	4: 155,740,745 (GRCm39)	N626K	probably damaging	Het
Mrgprh	T	C	17: 13,095,843 (GRCm39)	S28P	possibly damaging	Het
Mup-ps23	T	A	4: 61,774,386 (GRCm39)		noncoding transcript	Het
Myh15	A	G	16: 49,003,322 (GRCm39)	T1794A	possibly damaging	Het
Myo18a	C	G	11: 77,711,868 (GRCm39)	P680A	probably benign	Het
Myom2	G	T	8: 15,148,419 (GRCm39)	D532Y	possibly damaging	Het
Ndufaf5	A	G	2: 140,012,801 (GRCm39)	N57S	probably benign	Het
Nectin3	C	T	16: 46,278,550 (GRCm39)	V282M	probably damaging	Het
Nup188	G	T	2: 30,221,000 (GRCm39)	D997Y	probably damaging	Het
Olfm3	T	C	3: 114,916,454 (GRCm39)	V462A	probably damaging	Het
Opcml	A	G	9: 28,724,694 (GRCm39)	H164R	possibly damaging	Het
Or14a259	A	T	7: 86,013,013 (GRCm39)	C177*	probably null	Het
Or4c120	A	T	2: 89,000,757 (GRCm39)	F266L	probably benign	Het
Or8u9	A	C	2: 86,002,050 (GRCm39)	F37C	probably damaging	Het
Pacrg	A	G	17: 10,622,347 (GRCm39)	I209T	probably damaging	Het
Pcf11	T	C	7: 92,310,423 (GRCm39)	M522V	probably benign	Het
Pck1	T	A	2: 172,995,183 (GRCm39)	M1K	probably null	Het
Pcm1	G	T	8: 41,729,148 (GRCm39)	E707*	probably null	Het
Pcsk5	G	A	19: 17,632,213 (GRCm39)	R318W	probably damaging	Het
Phf11d	A	T	14: 59,590,793 (GRCm39)	M188K	possibly damaging	Het
Ppip5k2	A	T	1: 97,668,262 (GRCm39)	C615*	probably null	Het
Prkdc	T	A	16: 15,609,791 (GRCm39)	S3132T	probably damaging	Het
Prl2c5	A	T	13: 13,357,609 (GRCm39)		probably benign	Het
Prpsap2	A	G	11: 61,631,826 (GRCm39)	I177T	possibly damaging	Het
Rad50	A	G	11: 53,541,346 (GRCm39)	S1297P	probably damaging	Het
Rasip1	T	A	7: 45,284,668 (GRCm39)	N678K	possibly damaging	Het
Rubcn	A	G	16: 32,656,350 (GRCm39)	S544P	probably damaging	Het
Rwdd2a	A	T	9: 86,456,453 (GRCm39)	T210S	possibly damaging	Het
Scd2	A	G	19: 44,291,479 (GRCm39)	D306G	probably damaging	Het
Sema3b	T	C	9: 107,480,117 (GRCm39)	N207S	probably benign	Het
Sf3b2	C	T	19: 5,324,852 (GRCm39)	D845N	probably damaging	Het
Sipa1l2	C	A	8: 126,191,149 (GRCm39)	C947F	probably damaging	Het
Slc12a1	A	T	2: 125,067,951 (GRCm39)	T1013S	probably damaging	Het
Slc18a2	A	T	19: 59,275,799 (GRCm39)	I461L	probably benign	Het
Slc1a6	C	A	10: 78,637,756 (GRCm39)	Y427*	probably null	Het
Slc30a4	A	T	2: 122,531,319 (GRCm39)	I231K	probably damaging	Het
Sos1	G	T	17: 80,761,192 (GRCm39)	A168D	probably damaging	Het
Spata31f1a	T	C	4: 42,851,161 (GRCm39)	I332V	probably benign	Het
Sptb	T	C	12: 76,668,145 (GRCm39)	S651G	probably benign	Het
Stk36	T	C	1: 74,672,779 (GRCm39)	L1007P	probably damaging	Het
Tek	A	T	4: 94,692,578 (GRCm39)	N229Y	probably damaging	Het
Tep1	A	G	14: 51,074,225 (GRCm39)	F1887L	possibly damaging	Het
Tet1	A	T	10: 62,713,988 (GRCm39)	C602*	probably null	Het
Tnfrsf19	A	G	14: 61,209,485 (GRCm39)	S262P	possibly damaging	Het
Trim5	T	C	7: 103,914,891 (GRCm39)	I393V	probably benign	Het
Trpm6	A	G	19: 18,830,951 (GRCm39)	E1272G	probably benign	Het
Ttc21b	A	T	2: 66,018,670 (GRCm39)	Y1246N	probably damaging	Het
Ttll3	T	A	6: 113,375,738 (GRCm39)	L151H	probably damaging	Het
U2surp	C	T	9: 95,366,496 (GRCm39)	V470I	probably benign	Het
Ubr1	A	T	2: 120,777,138 (GRCm39)	Y276N	probably benign	Het
Uggt1	A	G	1: 36,218,751 (GRCm39)	S59P	probably benign	Het
Unc45a	T	C	7: 79,976,092 (GRCm39)	T796A	probably damaging	Het
Unc5b	C	A	10: 60,614,719 (GRCm39)	V193F	possibly damaging	Het
Upp1	G	T	11: 9,079,590 (GRCm39)	M50I	probably benign	Het
Vps18	C	T	2: 119,124,386 (GRCm39)	R438C	probably damaging	Het
Zfp715	T	C	7: 42,948,760 (GRCm39)	Y400C	possibly damaging	Het
Zfp955b	T	C	17: 33,521,496 (GRCm39)	Y322H	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
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
R9667:Gls	UTSW	1	52,230,036 (GRCm39)	critical splice donor site	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'- TTATGCACATGGGGCCACACAC -3'
(R):5'- ACACAGGATAAGGCGTGATCTGTTG -3'

Sequencing Primer
(F):5'- GGAAAAACTGTTATCTCCAGTGGC -3'
(R):5'- AAGGCGTGATCTGTTGAAATATG -3'

Posted On

2013-04-24