Incidental Mutation 'IGL01065:Bcat1'
ID |
51240 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Bcat1
|
Ensembl Gene |
ENSMUSG00000030268 |
Gene Name |
branched chain aminotransferase 1, cytosolic |
Synonyms |
Eca39, BCATc, Bcat-1 |
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.105)
|
Stock # |
IGL01065
|
Quality Score |
|
Status
|
|
Chromosome |
6 |
Chromosomal Location |
144939561-145021883 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 144946015 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Serine to Glycine
at position 446
(S446G)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000032402
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000032402]
[ENSMUST00000048252]
[ENSMUST00000111742]
|
AlphaFold |
P24288 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000032402
AA Change: S446G
PolyPhen 2
Score 0.894 (Sensitivity: 0.82; Specificity: 0.94)
|
SMART Domains |
Protein: ENSMUSP00000032402 Gene: ENSMUSG00000030268 AA Change: S446G
Domain | Start | End | E-Value | Type |
Pfam:Aminotran_4
|
160 |
410 |
1.3e-34 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000048252
|
SMART Domains |
Protein: ENSMUSP00000039744 Gene: ENSMUSG00000030268
Domain | Start | End | E-Value | Type |
Pfam:Aminotran_4
|
111 |
354 |
5.9e-26 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000111742
AA Change: S379G
PolyPhen 2
Score 0.217 (Sensitivity: 0.91; Specificity: 0.88)
|
SMART Domains |
Protein: ENSMUSP00000107371 Gene: ENSMUSG00000030268 AA Change: S379G
Domain | Start | End | E-Value | Type |
Pfam:Aminotran_4
|
111 |
354 |
1.7e-26 |
PFAM |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000145911
|
Coding Region Coverage |
|
Validation Efficiency |
|
MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes the cytosolic form of the enzyme branched-chain amino acid transaminase. This enzyme catalyzes the reversible transamination of branched-chain alpha-keto acids to branched-chain L-amino acids essential for cell growth. Two different clinical disorders have been attributed to a defect of branched-chain amino acid transamination: hypervalinemia and hyperleucine-isoleucinemia. As there is also a gene encoding a mitochondrial form of this enzyme, mutations in either gene may contribute to these disorders. Alternatively spliced transcript variants have been described. [provided by RefSeq, May 2010] PHENOTYPE: Mice homozygous for a null mutation display abnormal amino acid metabilism in T cells. [provided by MGI curators]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 42 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
1110038F14Rik |
G |
A |
15: 76,834,475 (GRCm39) |
V124I |
probably damaging |
Het |
Aen |
G |
A |
7: 78,557,050 (GRCm39) |
M299I |
probably damaging |
Het |
Apob |
A |
G |
12: 8,053,299 (GRCm39) |
Y1247C |
probably damaging |
Het |
Atg16l1 |
A |
T |
1: 87,713,653 (GRCm39) |
N401I |
probably damaging |
Het |
Bcam |
T |
C |
7: 19,490,724 (GRCm39) |
H591R |
probably benign |
Het |
C2cd5 |
A |
G |
6: 143,024,005 (GRCm39) |
S262P |
probably damaging |
Het |
Clrn1 |
T |
C |
3: 58,792,446 (GRCm39) |
K6E |
probably damaging |
Het |
D17H6S53E |
A |
T |
17: 35,346,259 (GRCm39) |
K57* |
probably null |
Het |
Dennd1a |
T |
A |
2: 37,734,917 (GRCm39) |
I17F |
probably benign |
Het |
Depdc7 |
A |
C |
2: 104,552,426 (GRCm39) |
Y460* |
probably null |
Het |
Disp3 |
T |
C |
4: 148,345,640 (GRCm39) |
Y400C |
probably damaging |
Het |
Edem3 |
T |
C |
1: 151,653,302 (GRCm39) |
Y203H |
probably damaging |
Het |
Fbxl5 |
A |
G |
5: 43,902,676 (GRCm39) |
C679R |
probably damaging |
Het |
Fhad1 |
T |
C |
4: 141,632,923 (GRCm39) |
T1194A |
probably benign |
Het |
Garin4 |
T |
C |
1: 190,895,224 (GRCm39) |
D473G |
probably benign |
Het |
Gipc2 |
A |
G |
3: 151,808,294 (GRCm39) |
L253P |
possibly damaging |
Het |
Gpr26 |
T |
C |
7: 131,569,230 (GRCm39) |
Y192H |
probably damaging |
Het |
Hoxb6 |
A |
G |
11: 96,191,635 (GRCm39) |
T186A |
probably damaging |
Het |
Kif24 |
A |
G |
4: 41,423,639 (GRCm39) |
|
probably benign |
Het |
Lonp1 |
T |
C |
17: 56,922,500 (GRCm39) |
|
probably benign |
Het |
Lrp1 |
A |
G |
10: 127,410,907 (GRCm39) |
I1427T |
probably benign |
Het |
Lrp2 |
C |
T |
2: 69,299,780 (GRCm39) |
E3091K |
possibly damaging |
Het |
Lzts1 |
T |
C |
8: 69,588,744 (GRCm39) |
N404S |
probably benign |
Het |
Map3k4 |
A |
T |
17: 12,451,877 (GRCm39) |
D1470E |
probably damaging |
Het |
Med30 |
A |
T |
15: 52,584,456 (GRCm39) |
N125Y |
probably benign |
Het |
Mgam |
G |
A |
6: 40,639,644 (GRCm39) |
|
probably null |
Het |
Mrps33 |
G |
A |
6: 39,779,447 (GRCm39) |
R83* |
probably null |
Het |
Notch3 |
A |
T |
17: 32,365,390 (GRCm39) |
Y1107* |
probably null |
Het |
Rc3h2 |
T |
A |
2: 37,267,856 (GRCm39) |
|
probably benign |
Het |
Rev1 |
T |
C |
1: 38,138,090 (GRCm39) |
E65G |
possibly damaging |
Het |
Rgl1 |
T |
C |
1: 152,394,893 (GRCm39) |
N760S |
probably damaging |
Het |
Slc16a4 |
T |
C |
3: 107,210,416 (GRCm39) |
I362T |
possibly damaging |
Het |
Slc25a24 |
G |
A |
3: 109,065,967 (GRCm39) |
|
probably benign |
Het |
Slc2a4 |
G |
T |
11: 69,836,782 (GRCm39) |
|
probably benign |
Het |
Slc39a13 |
T |
A |
2: 90,894,051 (GRCm39) |
I256F |
probably damaging |
Het |
Spdya |
A |
T |
17: 71,863,320 (GRCm39) |
N23I |
possibly damaging |
Het |
Srpra |
T |
A |
9: 35,124,734 (GRCm39) |
W112R |
probably damaging |
Het |
Tbc1d4 |
A |
C |
14: 101,686,629 (GRCm39) |
|
probably benign |
Het |
Ttc39d |
G |
A |
17: 80,523,703 (GRCm39) |
G121R |
probably damaging |
Het |
Tuba3a |
C |
T |
6: 125,259,920 (GRCm39) |
V9M |
possibly damaging |
Het |
Upf2 |
A |
G |
2: 5,966,111 (GRCm39) |
K244E |
unknown |
Het |
Usp39 |
T |
C |
6: 72,316,958 (GRCm39) |
Y141C |
probably damaging |
Het |
|
Other mutations in Bcat1 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01882:Bcat1
|
APN |
6 |
144,950,135 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02021:Bcat1
|
APN |
6 |
144,993,015 (GRCm39) |
splice site |
probably benign |
|
IGL02024:Bcat1
|
APN |
6 |
144,978,564 (GRCm39) |
missense |
probably damaging |
0.97 |
IGL02705:Bcat1
|
APN |
6 |
144,964,914 (GRCm39) |
splice site |
probably benign |
|
IGL02954:Bcat1
|
APN |
6 |
144,964,945 (GRCm39) |
missense |
probably damaging |
1.00 |
R0331:Bcat1
|
UTSW |
6 |
144,993,040 (GRCm39) |
missense |
probably benign |
0.17 |
R1592:Bcat1
|
UTSW |
6 |
144,955,784 (GRCm39) |
missense |
probably benign |
0.00 |
R1680:Bcat1
|
UTSW |
6 |
144,985,354 (GRCm39) |
missense |
probably damaging |
1.00 |
R2162:Bcat1
|
UTSW |
6 |
144,955,834 (GRCm39) |
missense |
probably damaging |
1.00 |
R2306:Bcat1
|
UTSW |
6 |
144,953,379 (GRCm39) |
missense |
probably damaging |
0.96 |
R3498:Bcat1
|
UTSW |
6 |
144,965,068 (GRCm39) |
missense |
probably damaging |
0.99 |
R3758:Bcat1
|
UTSW |
6 |
144,978,598 (GRCm39) |
missense |
probably damaging |
1.00 |
R3831:Bcat1
|
UTSW |
6 |
144,955,834 (GRCm39) |
missense |
probably damaging |
1.00 |
R3833:Bcat1
|
UTSW |
6 |
144,955,834 (GRCm39) |
missense |
probably damaging |
1.00 |
R4829:Bcat1
|
UTSW |
6 |
144,961,201 (GRCm39) |
missense |
probably damaging |
1.00 |
R5250:Bcat1
|
UTSW |
6 |
144,993,165 (GRCm39) |
critical splice donor site |
probably null |
|
R5338:Bcat1
|
UTSW |
6 |
144,953,353 (GRCm39) |
missense |
possibly damaging |
0.50 |
R5414:Bcat1
|
UTSW |
6 |
144,961,173 (GRCm39) |
critical splice donor site |
probably null |
|
R5679:Bcat1
|
UTSW |
6 |
144,953,474 (GRCm39) |
missense |
probably damaging |
1.00 |
R6566:Bcat1
|
UTSW |
6 |
144,961,210 (GRCm39) |
missense |
probably damaging |
1.00 |
R7015:Bcat1
|
UTSW |
6 |
144,985,309 (GRCm39) |
missense |
probably damaging |
0.99 |
R7255:Bcat1
|
UTSW |
6 |
144,978,511 (GRCm39) |
nonsense |
probably null |
|
R7606:Bcat1
|
UTSW |
6 |
144,994,358 (GRCm39) |
missense |
probably benign |
0.06 |
R8115:Bcat1
|
UTSW |
6 |
144,955,819 (GRCm39) |
missense |
probably damaging |
1.00 |
R9198:Bcat1
|
UTSW |
6 |
144,985,222 (GRCm39) |
missense |
probably damaging |
1.00 |
R9342:Bcat1
|
UTSW |
6 |
144,994,332 (GRCm39) |
missense |
probably benign |
|
R9588:Bcat1
|
UTSW |
6 |
144,950,126 (GRCm39) |
missense |
probably benign |
0.04 |
R9665:Bcat1
|
UTSW |
6 |
144,994,488 (GRCm39) |
missense |
probably benign |
|
RF004:Bcat1
|
UTSW |
6 |
144,953,349 (GRCm39) |
missense |
probably benign |
0.00 |
|
Posted On |
2013-06-21 |