Mutagenetix > Incidental Mutation

Incidental Mutation 'R3778:Gls'

271873

Institutional Source

Beutler Lab

Gene Symbol

Gls

Ensembl Gene

ENSMUSG00000026103

Gene Name

glutaminase

Synonyms

B230365M23Rik

MMRRC Submission

040750-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R3778 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

52202607-52272391 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 52208071 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 571 (V571A)

Ref Sequence

ENSEMBL: ENSMUSP00000110158 (fasta)

Gene Model

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

AlphaFold

D3Z7P3

Predicted Effect

probably benign
Transcript: ENSMUST00000114512
AA Change: V388A

PolyPhen 2 Score 0.016 (Sensitivity: 0.95; Specificity: 0.79)

SMART Domains

Protein: ENSMUSP00000110157
Gene: ENSMUSG00000026103
AA Change: V388A

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
AA Change: V571A

PolyPhen 2 Score 0.052 (Sensitivity: 0.94; Specificity: 0.83)

SMART Domains

Protein: ENSMUSP00000110158
Gene: ENSMUSG00000026103
AA Change: V571A

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: ENSMUST00000126221

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000136654

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000138906

Predicted Effect

unknown
Transcript: ENSMUST00000156887
AA Change: V101A

SMART Domains

Protein: ENSMUSP00000116901
Gene: ENSMUSG00000026103
AA Change: V101A

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

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: 62 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adcy8	A	T	15: 64,618,846 (GRCm39)	L769H	probably damaging	Het
Aldh1a7	A	T	19: 20,696,675 (GRCm39)	M106K	possibly damaging	Het
Ankfn1	G	T	11: 89,332,220 (GRCm39)	P442Q	probably damaging	Het
Aox1	A	C	1: 58,092,862 (GRCm39)	D158A	possibly damaging	Het
Apc	A	G	18: 34,446,134 (GRCm39)	N976S	probably damaging	Het
Cfap54	C	T	10: 92,740,206 (GRCm39)		probably benign	Het
Cldn1	C	T	16: 26,190,216 (GRCm39)	C54Y	probably damaging	Het
Col22a1	A	T	15: 71,845,541 (GRCm39)	I407N	probably damaging	Het
Cyp2e1	T	C	7: 140,343,822 (GRCm39)	V20A	possibly damaging	Het
Erp27	A	T	6: 136,896,901 (GRCm39)	N100K	possibly damaging	Het
Fbn1	C	T	2: 125,159,006 (GRCm39)	C2253Y	probably damaging	Het
Fhip1b	T	A	7: 105,037,435 (GRCm39)	T383S	probably damaging	Het
Flnb	G	A	14: 7,915,353 (GRCm38)	V1495I	probably benign	Het
Fscn3	A	C	6: 28,430,031 (GRCm39)	K67T	possibly damaging	Het
Gm14569	T	A	X: 35,696,085 (GRCm39)	M875L	probably benign	Het
Gm4871	A	G	5: 144,966,893 (GRCm39)	S197P	probably damaging	Het
Gm7104	A	T	12: 88,252,441 (GRCm39)		noncoding transcript	Het
Gp9	A	T	6: 87,755,987 (GRCm39)	M1L	probably benign	Het
Greb1l	T	A	18: 10,469,444 (GRCm39)	L153H	possibly damaging	Het
H1f8	T	C	6: 115,926,708 (GRCm39)		probably null	Het
Hadha	A	T	5: 30,325,127 (GRCm39)	C688S	probably damaging	Het
Hif1an	A	G	19: 44,557,847 (GRCm39)	D243G	probably damaging	Het
Hmcn1	A	T	1: 150,678,575 (GRCm39)	D515E	possibly damaging	Het
Hsfy2	A	T	1: 56,675,847 (GRCm39)	V230E	possibly damaging	Het
Ighv1-72	A	T	12: 115,721,636 (GRCm39)	S107T	probably damaging	Het
Inpp4b	T	A	8: 82,768,621 (GRCm39)	V710D	possibly damaging	Het
Itpr3	A	G	17: 27,314,446 (GRCm39)	D632G	possibly damaging	Het
Kcnd3	C	T	3: 105,566,082 (GRCm39)	A421V	probably damaging	Het
Lrig2	A	G	3: 104,365,277 (GRCm39)	I625T	probably benign	Het
Lrp2	A	T	2: 69,339,548 (GRCm39)	M1121K	probably benign	Het
Man2b2	T	C	5: 36,972,871 (GRCm39)	N548D	probably benign	Het
Mei1	T	C	15: 81,966,209 (GRCm39)	L277P	probably damaging	Het
Mki67	A	C	7: 135,297,859 (GRCm39)	S2392A	probably benign	Het
Mycbp2	T	A	14: 103,434,721 (GRCm39)	I2241F	probably damaging	Het
Nalcn	G	A	14: 123,702,128 (GRCm39)	T461M	probably damaging	Het
Ncoa6	A	G	2: 155,263,115 (GRCm39)	S440P	probably damaging	Het
Ncoa7	A	G	10: 30,565,752 (GRCm39)	Y632H	probably damaging	Het
Notch2	T	C	3: 98,053,939 (GRCm39)	S2201P	probably damaging	Het
Or10c1	T	C	17: 37,522,649 (GRCm39)	T32A	probably benign	Het
Or5p52	C	A	7: 107,501,954 (GRCm39)	A10E	probably benign	Het
Pard6g	A	T	18: 80,123,038 (GRCm39)		probably null	Het
Pask	T	A	1: 93,255,189 (GRCm39)	I294F	probably damaging	Het
Pax9	A	G	12: 56,743,533 (GRCm39)	Y60C	probably damaging	Het
Pcdh15	G	A	10: 73,782,983 (GRCm39)		probably null	Het
Pik3c2g	A	T	6: 139,599,385 (GRCm39)	Y167F	probably damaging	Het
Ppfibp2	A	G	7: 107,328,396 (GRCm39)	T476A	probably benign	Het
Ppm1e	T	C	11: 87,139,754 (GRCm39)		probably null	Het
Rsph14	T	G	10: 74,793,420 (GRCm39)	Q360P	possibly damaging	Het
Rsph14	C	G	10: 74,793,419 (GRCm39)	Q360H	possibly damaging	Het
Sec24c	A	G	14: 20,733,375 (GRCm39)	Q234R	possibly damaging	Het
Shcbp1	A	T	8: 4,786,295 (GRCm39)	N602K	probably benign	Het
Sirt5	A	G	13: 43,536,583 (GRCm39)		probably null	Het
Slc66a1	T	C	4: 139,026,293 (GRCm39)		probably null	Het
Sp8	G	T	12: 118,812,750 (GRCm39)	V202L	possibly damaging	Het
Tle6	G	T	10: 81,431,987 (GRCm39)	P86T	probably benign	Het
Tmem235	A	T	11: 117,753,126 (GRCm39)	H83L	probably benign	Het
Trappc10	A	G	10: 78,036,636 (GRCm39)	V861A	possibly damaging	Het
Trpm2	A	C	10: 77,771,824 (GRCm39)	L605R	probably benign	Het
Vat1l	T	C	8: 114,963,540 (GRCm39)		probably null	Het
Wnt6	A	C	1: 74,821,941 (GRCm39)	D174A	possibly damaging	Het
Wwox	T	C	8: 115,601,347 (GRCm39)	C355R	probably benign	Het
Zfp229	A	T	17: 21,964,183 (GRCm39)	T138S	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
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'- CCTTAGCTGTGCTACTGTGGAG -3'
(R):5'- TATCCGTCTTGGCTAAGGGC -3'

Sequencing Primer
(F):5'- GAGGAAGATAAACAGCTGTCTCTCC -3'
(R):5'- CTTGGCTAAGGGCGTGTG -3'

Posted On

2015-03-25