Incidental Mutation 'IGL02094:Got1l1'
ID |
279527 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Got1l1
|
Ensembl Gene |
ENSMUSG00000039720 |
Gene Name |
glutamic-oxaloacetic transaminase 1-like 1 |
Synonyms |
1700083M11Rik |
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.057)
|
Stock # |
IGL02094
|
Quality Score |
|
Status
|
|
Chromosome |
8 |
Chromosomal Location |
27687487-27713856 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 27689873 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Valine to Alanine
at position 171
(V171A)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000041337
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000038174]
[ENSMUST00000209299]
|
AlphaFold |
Q7TSV6 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000038174
AA Change: V171A
PolyPhen 2
Score 0.098 (Sensitivity: 0.93; Specificity: 0.85)
|
SMART Domains |
Protein: ENSMUSP00000041337 Gene: ENSMUSG00000039720 AA Change: V171A
Domain | Start | End | E-Value | Type |
Pfam:Aminotran_1_2
|
32 |
395 |
1.2e-20 |
PFAM |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000209281
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000209299
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000209699
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000211002
|
Coding Region Coverage |
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 34 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adam29 |
T |
C |
8: 56,324,480 (GRCm39) |
N658S |
possibly damaging |
Het |
Adcy10 |
T |
C |
1: 165,398,189 (GRCm39) |
Y1429H |
probably damaging |
Het |
Aebp1 |
G |
A |
11: 5,818,357 (GRCm39) |
M98I |
probably benign |
Het |
Arl3 |
T |
C |
19: 46,546,780 (GRCm39) |
D15G |
probably benign |
Het |
Casp2 |
T |
A |
6: 42,257,293 (GRCm39) |
I414N |
probably damaging |
Het |
Ceacam1 |
T |
C |
7: 25,173,968 (GRCm39) |
D229G |
probably damaging |
Het |
Cog7 |
G |
T |
7: 121,562,470 (GRCm39) |
A234E |
probably benign |
Het |
Csgalnact1 |
C |
A |
8: 68,854,144 (GRCm39) |
G219V |
probably damaging |
Het |
Cyp3a59 |
A |
T |
5: 146,041,631 (GRCm39) |
T392S |
probably benign |
Het |
Ebf2 |
G |
A |
14: 67,472,689 (GRCm39) |
V36M |
possibly damaging |
Het |
Fbxw15 |
A |
C |
9: 109,387,308 (GRCm39) |
V229G |
possibly damaging |
Het |
Itgax |
A |
G |
7: 127,730,645 (GRCm39) |
Y121C |
probably damaging |
Het |
Kcng4 |
C |
A |
8: 120,359,960 (GRCm39) |
A139S |
probably damaging |
Het |
Kcnj9 |
G |
T |
1: 172,153,275 (GRCm39) |
T283K |
probably damaging |
Het |
Mgl2 |
T |
A |
11: 70,027,923 (GRCm39) |
I377K |
possibly damaging |
Het |
Myo15a |
T |
C |
11: 60,401,473 (GRCm39) |
|
probably benign |
Het |
Nod1 |
A |
T |
6: 54,916,375 (GRCm39) |
|
probably null |
Het |
Nr1h5 |
A |
T |
3: 102,859,512 (GRCm39) |
C182* |
probably null |
Het |
Nup210l |
G |
T |
3: 90,087,520 (GRCm39) |
|
probably null |
Het |
Ptbp2 |
G |
A |
3: 119,546,589 (GRCm39) |
|
probably benign |
Het |
Ptpn13 |
T |
G |
5: 103,742,483 (GRCm39) |
F2401V |
probably damaging |
Het |
Rbbp6 |
T |
C |
7: 122,596,485 (GRCm39) |
S676P |
probably damaging |
Het |
Recql4 |
T |
A |
15: 76,593,717 (GRCm39) |
Q131L |
probably benign |
Het |
Sbno2 |
G |
A |
10: 79,893,479 (GRCm39) |
P1274L |
probably benign |
Het |
Sec24c |
T |
C |
14: 20,738,470 (GRCm39) |
V341A |
probably damaging |
Het |
Smc1b |
A |
T |
15: 84,982,092 (GRCm39) |
|
probably benign |
Het |
Sptbn1 |
T |
C |
11: 30,050,659 (GRCm39) |
H2310R |
probably benign |
Het |
Tas2r109 |
T |
A |
6: 132,957,202 (GRCm39) |
I243F |
possibly damaging |
Het |
Trpc1 |
A |
C |
9: 95,625,334 (GRCm39) |
D97E |
probably damaging |
Het |
Trpm2 |
G |
A |
10: 77,778,830 (GRCm39) |
Q379* |
probably null |
Het |
Ttn |
A |
G |
2: 76,649,167 (GRCm39) |
|
probably benign |
Het |
Vmn2r74 |
A |
T |
7: 85,610,669 (GRCm39) |
F8I |
probably benign |
Het |
Zfp36 |
C |
T |
7: 28,077,188 (GRCm39) |
S240N |
probably benign |
Het |
Zfp65 |
A |
G |
13: 67,856,304 (GRCm39) |
I325T |
possibly damaging |
Het |
|
Other mutations in Got1l1 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01392:Got1l1
|
APN |
8 |
27,688,019 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL03155:Got1l1
|
APN |
8 |
27,689,360 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL03395:Got1l1
|
APN |
8 |
27,690,885 (GRCm39) |
missense |
probably benign |
0.00 |
R0026:Got1l1
|
UTSW |
8 |
27,690,276 (GRCm39) |
missense |
probably benign |
0.00 |
R1086:Got1l1
|
UTSW |
8 |
27,688,007 (GRCm39) |
missense |
probably damaging |
1.00 |
R1403:Got1l1
|
UTSW |
8 |
27,690,745 (GRCm39) |
splice site |
probably null |
|
R1403:Got1l1
|
UTSW |
8 |
27,690,745 (GRCm39) |
splice site |
probably null |
|
R2349:Got1l1
|
UTSW |
8 |
27,687,959 (GRCm39) |
missense |
probably benign |
0.09 |
R3413:Got1l1
|
UTSW |
8 |
27,689,864 (GRCm39) |
critical splice donor site |
probably null |
|
R4513:Got1l1
|
UTSW |
8 |
27,688,513 (GRCm39) |
missense |
probably benign |
0.27 |
R4514:Got1l1
|
UTSW |
8 |
27,688,513 (GRCm39) |
missense |
probably benign |
0.27 |
R5686:Got1l1
|
UTSW |
8 |
27,688,087 (GRCm39) |
missense |
probably damaging |
1.00 |
R5979:Got1l1
|
UTSW |
8 |
27,687,951 (GRCm39) |
splice site |
probably null |
|
R6023:Got1l1
|
UTSW |
8 |
27,689,932 (GRCm39) |
nonsense |
probably null |
|
R6229:Got1l1
|
UTSW |
8 |
27,688,464 (GRCm39) |
splice site |
probably null |
|
R7635:Got1l1
|
UTSW |
8 |
27,687,962 (GRCm39) |
missense |
probably damaging |
1.00 |
R8101:Got1l1
|
UTSW |
8 |
27,690,330 (GRCm39) |
missense |
possibly damaging |
0.68 |
R8104:Got1l1
|
UTSW |
8 |
27,687,619 (GRCm39) |
missense |
probably damaging |
1.00 |
R8298:Got1l1
|
UTSW |
8 |
27,688,586 (GRCm39) |
missense |
probably benign |
0.09 |
R8792:Got1l1
|
UTSW |
8 |
27,690,749 (GRCm39) |
critical splice donor site |
probably null |
|
R9089:Got1l1
|
UTSW |
8 |
27,690,889 (GRCm39) |
missense |
probably damaging |
1.00 |
R9526:Got1l1
|
UTSW |
8 |
27,688,503 (GRCm39) |
missense |
probably benign |
0.07 |
|
Posted On |
2015-04-16 |