Incidental Mutation 'R2349:Got1l1'
ID |
247389 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Got1l1
|
Ensembl Gene |
ENSMUSG00000039720 |
Gene Name |
glutamic-oxaloacetic transaminase 1-like 1 |
Synonyms |
1700083M11Rik |
MMRRC Submission |
040331-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.057)
|
Stock # |
R2349 (G1)
|
Quality Score |
181 |
Status
|
Validated
|
Chromosome |
8 |
Chromosomal Location |
27687487-27713856 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 27687959 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Threonine to Alanine
at position 357
(T357A)
|
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: T357A
PolyPhen 2
Score 0.095 (Sensitivity: 0.93; Specificity: 0.85)
|
SMART Domains |
Protein: ENSMUSP00000041337 Gene: ENSMUSG00000039720 AA Change: T357A
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
|
Meta Mutation Damage Score |
0.0898 |
Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.5%
- 10x: 97.1%
- 20x: 94.6%
|
Validation Efficiency |
100% (34/34) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 32 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adam34 |
T |
C |
8: 44,105,415 (GRCm39) |
K77E |
probably damaging |
Het |
Arfgef2 |
T |
A |
2: 166,693,948 (GRCm39) |
I507N |
probably damaging |
Het |
Atg16l2 |
T |
C |
7: 100,945,746 (GRCm39) |
K231E |
probably damaging |
Het |
C1s1 |
C |
A |
6: 124,518,432 (GRCm39) |
|
probably benign |
Het |
Cdh15 |
G |
A |
8: 123,583,374 (GRCm39) |
R59H |
probably benign |
Het |
Cntrl |
A |
G |
2: 35,066,263 (GRCm39) |
T1739A |
probably benign |
Het |
Col15a1 |
G |
A |
4: 47,306,742 (GRCm39) |
M289I |
probably damaging |
Het |
Crebbp |
G |
A |
16: 3,956,774 (GRCm39) |
R350C |
probably damaging |
Het |
Dbx2 |
A |
G |
15: 95,522,840 (GRCm39) |
V289A |
probably benign |
Het |
Esam |
A |
C |
9: 37,439,527 (GRCm39) |
Q4P |
probably benign |
Het |
Galnt1 |
A |
G |
18: 24,413,085 (GRCm39) |
M462V |
probably benign |
Het |
Gpr182 |
T |
A |
10: 127,586,806 (GRCm39) |
K48N |
probably damaging |
Het |
Hdlbp |
A |
G |
1: 93,349,956 (GRCm39) |
|
probably benign |
Het |
Ifi209 |
G |
A |
1: 173,470,122 (GRCm39) |
V237M |
probably damaging |
Het |
Igf2r |
A |
T |
17: 12,941,198 (GRCm39) |
|
probably null |
Het |
Jmjd1c |
T |
C |
10: 67,091,279 (GRCm39) |
M2520T |
probably benign |
Het |
Krt222 |
A |
G |
11: 99,129,591 (GRCm39) |
|
probably benign |
Het |
Nkx2-9 |
A |
G |
12: 56,659,007 (GRCm39) |
L69P |
probably benign |
Het |
Papss1 |
A |
G |
3: 131,305,627 (GRCm39) |
D203G |
probably benign |
Het |
Pex13 |
A |
G |
11: 23,605,789 (GRCm39) |
M147T |
probably damaging |
Het |
Pkd1l1 |
A |
T |
11: 8,776,819 (GRCm39) |
|
probably null |
Het |
Rac2 |
A |
G |
15: 78,449,675 (GRCm39) |
V85A |
possibly damaging |
Het |
Rock2 |
A |
G |
12: 17,027,616 (GRCm39) |
N127S |
probably benign |
Het |
Sfswap |
C |
T |
5: 129,646,802 (GRCm39) |
R875C |
possibly damaging |
Het |
Slco5a1 |
C |
T |
1: 12,991,376 (GRCm39) |
V438M |
probably damaging |
Het |
Thsd4 |
A |
G |
9: 59,879,798 (GRCm39) |
Y620H |
probably benign |
Het |
Trip4 |
T |
C |
9: 65,773,844 (GRCm39) |
D246G |
probably benign |
Het |
Usp10 |
T |
C |
8: 120,683,448 (GRCm39) |
*88R |
probably null |
Het |
Vars1 |
A |
G |
17: 35,234,728 (GRCm39) |
I1186V |
probably benign |
Het |
Vps13c |
A |
G |
9: 67,864,808 (GRCm39) |
D3039G |
possibly damaging |
Het |
Wwp1 |
A |
T |
4: 19,638,644 (GRCm39) |
N566K |
possibly damaging |
Het |
Xpo6 |
A |
T |
7: 125,712,875 (GRCm39) |
V701E |
probably benign |
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 |
IGL02094:Got1l1
|
APN |
8 |
27,689,873 (GRCm39) |
missense |
probably benign |
0.10 |
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 |
|
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 |
|
Predicted Primers |
PCR Primer
(F):5'- CAGAATTCCTCTCAAGACCATGGG -3'
(R):5'- GGCCTTTGCAGTCCAGTTTC -3'
Sequencing Primer
(F):5'- CCTCTCAAGACCATGGGGGAAG -3'
(R):5'- GCAGTCCAGTTTCCTGCTC -3'
|
Posted On |
2014-11-11 |