Incidental Mutation 'R1455:Glul'
| ID |
161700 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Glul
|
| Ensembl Gene |
ENSMUSG00000026473 |
| Gene Name |
glutamate-ammonia ligase |
| Synonyms |
Glns, GS |
| MMRRC Submission |
039510-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R1455 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
1 |
| Chromosomal Location |
153775692-153785469 bp(+) (GRCm39) |
| Type of Mutation |
splice site (743 bp from exon) |
| DNA Base Change (assembly) |
T to A
at 153782845 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000123157
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000086199]
[ENSMUST00000139476]
[ENSMUST00000140685]
|
| AlphaFold |
P15105 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000086199
AA Change: Y185*
|
| SMART Domains |
Protein: ENSMUSP00000083375
Gene: ENSMUSG00000026473
AA Change: Y185*
| 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
AA Change: Y185*
|
| SMART Domains |
Protein: ENSMUSP00000114377
Gene: ENSMUSG00000026473
AA Change: Y185*
| 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 null
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
|
| Coding Region Coverage |
- 1x: 98.9%
- 3x: 97.9%
- 10x: 94.8%
- 20x: 87.9%
|
| Validation Efficiency |
|
| 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: 41 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4921509C19Rik |
T |
C |
2: 151,314,824 (GRCm39) |
N285D |
possibly damaging |
Het |
| Adam9 |
T |
G |
8: 25,483,125 (GRCm39) |
M227L |
probably benign |
Het |
| Ankrd35 |
A |
G |
3: 96,585,471 (GRCm39) |
D21G |
probably damaging |
Het |
| Arhgap32 |
C |
T |
9: 32,171,381 (GRCm39) |
A1387V |
probably benign |
Het |
| Atg4d |
T |
A |
9: 21,182,097 (GRCm39) |
V306E |
probably damaging |
Het |
| Brsk1 |
G |
A |
7: 4,707,250 (GRCm39) |
V268M |
probably damaging |
Het |
| Cfap300 |
T |
G |
9: 8,022,457 (GRCm39) |
N255T |
probably benign |
Het |
| Clec4a4 |
A |
G |
6: 122,989,758 (GRCm39) |
E133G |
possibly damaging |
Het |
| Col24a1 |
T |
A |
3: 145,166,593 (GRCm39) |
L1076H |
probably damaging |
Het |
| Ddah1 |
G |
T |
3: 145,594,864 (GRCm39) |
R208L |
probably benign |
Het |
| Dysf |
A |
G |
6: 84,090,368 (GRCm39) |
N960S |
probably benign |
Het |
| Egln2 |
A |
G |
7: 26,859,796 (GRCm39) |
Y306H |
probably damaging |
Het |
| Fgfr1 |
T |
C |
8: 26,052,292 (GRCm39) |
V293A |
possibly damaging |
Het |
| Gja3 |
A |
G |
14: 57,273,842 (GRCm39) |
Y177H |
probably damaging |
Het |
| Gprc5a |
G |
A |
6: 135,056,245 (GRCm39) |
V231I |
probably benign |
Het |
| Kdm4d |
C |
A |
9: 14,375,691 (GRCm39) |
A56S |
probably damaging |
Het |
| Lingo4 |
G |
A |
3: 94,306,699 (GRCm39) |
|
probably benign |
Het |
| Map6 |
A |
G |
7: 98,917,421 (GRCm39) |
T65A |
probably damaging |
Het |
| Mmrn2 |
T |
C |
14: 34,121,089 (GRCm39) |
I653T |
probably benign |
Het |
| Ndufa12 |
A |
G |
10: 94,039,176 (GRCm39) |
T70A |
probably benign |
Het |
| Nfe2l3 |
C |
A |
6: 51,434,744 (GRCm39) |
P435T |
possibly damaging |
Het |
| Npc1l1 |
A |
T |
11: 6,178,174 (GRCm39) |
V412E |
possibly damaging |
Het |
| Or51a39 |
A |
T |
7: 102,363,205 (GRCm39) |
Y138* |
probably null |
Het |
| Or6aa1 |
A |
T |
7: 86,043,803 (GRCm39) |
F301Y |
probably damaging |
Het |
| Pcnx1 |
T |
C |
12: 82,020,008 (GRCm39) |
F1344L |
probably damaging |
Het |
| Pi4ka |
A |
G |
16: 17,181,818 (GRCm39) |
V297A |
probably benign |
Het |
| Pole2 |
G |
A |
12: 69,254,703 (GRCm39) |
L381F |
probably benign |
Het |
| Pramel7 |
T |
C |
2: 87,320,067 (GRCm39) |
T409A |
probably benign |
Het |
| Proc |
C |
G |
18: 32,256,451 (GRCm39) |
M405I |
probably damaging |
Het |
| Serinc2 |
C |
A |
4: 130,158,133 (GRCm39) |
A105S |
probably damaging |
Het |
| Slc4a10 |
G |
T |
2: 62,117,274 (GRCm39) |
K744N |
probably damaging |
Het |
| Spdye4c |
A |
T |
2: 128,438,478 (GRCm39) |
I279F |
probably damaging |
Het |
| Srcap |
G |
T |
7: 127,129,822 (GRCm39) |
R568L |
probably damaging |
Het |
| Stag3 |
T |
A |
5: 138,309,997 (GRCm39) |
M1215K |
probably benign |
Het |
| Tenm3 |
C |
T |
8: 48,732,083 (GRCm39) |
A1274T |
possibly damaging |
Het |
| Tet2 |
A |
G |
3: 133,179,406 (GRCm39) |
V1253A |
possibly damaging |
Het |
| Tns2 |
C |
T |
15: 102,017,369 (GRCm39) |
R281C |
probably damaging |
Het |
| Trip12 |
T |
C |
1: 84,736,821 (GRCm39) |
I800V |
probably benign |
Het |
| Zfc3h1 |
T |
C |
10: 115,248,013 (GRCm39) |
I1072T |
probably benign |
Het |
| Zfp148 |
T |
A |
16: 33,315,835 (GRCm39) |
|
probably null |
Het |
| Zfp941 |
A |
G |
7: 140,392,687 (GRCm39) |
V224A |
probably benign |
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 |
|
|
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 |
|
|
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'- GGAATGACCTAAATTCTCCCGCCTG -3'
(R):5'- AAAGTCTTCGCACACCCGATGC -3'
Sequencing Primer
(F):5'- CTGAAGGCAGGACTAGTGACTC -3'
(R):5'- CGGGCTATCCAAAGATGATCTC -3'
|
| Posted On |
2014-03-14 |
Incidental Mutation