Incidental Mutation 'IGL02954:Bcat1'
| ID |
365045 |
| 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: 0.080)
|
| Stock # |
IGL02954
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
6 |
| Chromosomal Location |
144939561-145021883 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 144964945 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glycine to Aspartic acid
at position 215
(G215D)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000120180
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000032402]
[ENSMUST00000048252]
[ENSMUST00000111742]
[ENSMUST00000123930]
[ENSMUST00000204138]
|
| AlphaFold |
P24288 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000032402
AA Change: G283D
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000032402
Gene: ENSMUSG00000030268
AA Change: G283D
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Aminotran_4
|
160 |
410 |
1.3e-34 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000048252
AA Change: G216D
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000039744
Gene: ENSMUSG00000030268
AA Change: G216D
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Aminotran_4
|
111 |
354 |
5.9e-26 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000111742
AA Change: G216D
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000107371
Gene: ENSMUSG00000030268
AA Change: G216D
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Aminotran_4
|
111 |
354 |
1.7e-26 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000123930
AA Change: G215D
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000120180
Gene: ENSMUSG00000030268
AA Change: G215D
| Domain | Start | End | E-Value | Type |
|---|
|
PDB:2COJ|B
|
2 |
224 |
1e-139 |
PDB |
|
SCOP:d1ekfa_
|
21 |
224 |
1e-76 |
SMART |
|
Blast:FN3
|
129 |
192 |
5e-7 |
BLAST |
|
| Predicted Effect |
unknown
Transcript: ENSMUST00000136819
AA Change: G66D
|
| SMART Domains |
Protein: ENSMUSP00000117708
Gene: ENSMUSG00000030268
AA Change: G66D
| Domain | Start | End | E-Value | Type |
|---|
|
PDB:2COJ|B
|
2 |
76 |
2e-45 |
PDB |
|
SCOP:d1ekfa_
|
2 |
76 |
2e-21 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000145911
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000204138
AA Change: G86D
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000144968
Gene: ENSMUSG00000030268
AA Change: G86D
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Aminotran_4
|
34 |
180 |
9.1e-17 |
PFAM |
|
| 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: 39 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcb1a |
G |
T |
5: 8,782,341 (GRCm39) |
R908L |
probably benign |
Het |
| Abcc9 |
T |
C |
6: 142,592,007 (GRCm39) |
N774S |
probably damaging |
Het |
| Alpk2 |
C |
T |
18: 65,439,207 (GRCm39) |
V729I |
probably benign |
Het |
| Atf3 |
T |
C |
1: 190,903,852 (GRCm39) |
N125D |
probably damaging |
Het |
| Bptf |
G |
T |
11: 106,945,575 (GRCm39) |
Q2555K |
possibly damaging |
Het |
| Cthrc1 |
A |
G |
15: 38,940,389 (GRCm39) |
|
probably benign |
Het |
| Cyp2c38 |
A |
G |
19: 39,379,520 (GRCm39) |
M443T |
probably damaging |
Het |
| D6Wsu163e |
C |
T |
6: 126,951,441 (GRCm39) |
|
probably benign |
Het |
| Dgkg |
T |
A |
16: 22,441,003 (GRCm39) |
E3D |
probably benign |
Het |
| Dnah8 |
G |
T |
17: 30,923,809 (GRCm39) |
R1259L |
probably benign |
Het |
| Dnah9 |
A |
G |
11: 66,009,793 (GRCm39) |
L698P |
probably damaging |
Het |
| Ebag9 |
A |
C |
15: 44,493,601 (GRCm39) |
H141P |
probably benign |
Het |
| Emilin2 |
T |
C |
17: 71,563,526 (GRCm39) |
R840G |
probably benign |
Het |
| Faap100 |
A |
T |
11: 120,262,957 (GRCm39) |
H800Q |
probably damaging |
Het |
| Fh1 |
A |
T |
1: 175,437,301 (GRCm39) |
I266N |
probably damaging |
Het |
| Fkbp15 |
A |
G |
4: 62,239,302 (GRCm39) |
|
probably benign |
Het |
| Gm17334 |
A |
G |
11: 53,663,654 (GRCm39) |
|
probably benign |
Het |
| Gm5773 |
G |
T |
3: 93,680,358 (GRCm39) |
W10L |
probably benign |
Het |
| Gng13 |
T |
C |
17: 25,937,726 (GRCm39) |
Y18H |
probably damaging |
Het |
| Hivep3 |
T |
C |
4: 119,990,838 (GRCm39) |
S2113P |
probably damaging |
Het |
| Ift81 |
A |
T |
5: 122,748,248 (GRCm39) |
|
probably benign |
Het |
| Irak3 |
A |
C |
10: 120,012,147 (GRCm39) |
L206V |
probably damaging |
Het |
| Kcng4 |
C |
T |
8: 120,359,792 (GRCm39) |
A195T |
probably benign |
Het |
| Lrrc40 |
G |
A |
3: 157,747,302 (GRCm39) |
|
probably benign |
Het |
| Nars2 |
T |
G |
7: 96,689,100 (GRCm39) |
|
probably null |
Het |
| Nol8 |
T |
C |
13: 49,814,648 (GRCm39) |
V234A |
probably benign |
Het |
| Or12j4 |
A |
T |
7: 140,046,353 (GRCm39) |
K80* |
probably null |
Het |
| Or1o4 |
T |
A |
17: 37,591,195 (GRCm39) |
N39Y |
probably damaging |
Het |
| Patz1 |
A |
G |
11: 3,241,761 (GRCm39) |
Y383C |
probably damaging |
Het |
| Pdcd5 |
T |
C |
7: 35,343,089 (GRCm39) |
Y152C |
probably damaging |
Het |
| Phkg1 |
A |
G |
5: 129,894,910 (GRCm39) |
W214R |
probably damaging |
Het |
| Plxna1 |
A |
G |
6: 89,301,649 (GRCm39) |
L1459P |
probably damaging |
Het |
| Pspc1 |
G |
A |
14: 57,009,217 (GRCm39) |
P206S |
probably benign |
Het |
| St7 |
A |
T |
6: 17,848,030 (GRCm39) |
N198I |
probably damaging |
Het |
| Supt3 |
A |
G |
17: 45,349,015 (GRCm39) |
D249G |
probably damaging |
Het |
| Taf1c |
T |
C |
8: 120,327,225 (GRCm39) |
Y418C |
probably damaging |
Het |
| Tdrd6 |
A |
G |
17: 43,938,153 (GRCm39) |
V965A |
possibly damaging |
Het |
| Ugt2b35 |
A |
G |
5: 87,159,180 (GRCm39) |
N458S |
probably benign |
Het |
| Vmn1r8 |
A |
G |
6: 57,013,315 (GRCm39) |
Y122C |
probably benign |
Het |
|
| Other mutations in Bcat1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01065:Bcat1
|
APN |
6 |
144,946,015 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
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 |
|
|
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 |
2015-12-18 |
Incidental Mutation