Incidental Mutation 'IGL02024:Bcat1'
| ID |
184100 |
| 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 # |
IGL02024
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
6 |
| Chromosomal Location |
144939561-145021883 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 144978564 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 152
(V152A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000107371
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000032402]
[ENSMUST00000048252]
[ENSMUST00000111742]
[ENSMUST00000123930]
[ENSMUST00000149769]
[ENSMUST00000204138]
|
| AlphaFold |
P24288 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000032402
AA Change: V219A
PolyPhen 2
Score 0.813 (Sensitivity: 0.84; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000032402
Gene: ENSMUSG00000030268
AA Change: V219A
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Aminotran_4
|
160 |
410 |
1.3e-34 |
PFAM |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000048252
AA Change: V152A
PolyPhen 2
Score 0.779 (Sensitivity: 0.85; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000039744
Gene: ENSMUSG00000030268
AA Change: V152A
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Aminotran_4
|
111 |
354 |
5.9e-26 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000111742
AA Change: V152A
PolyPhen 2
Score 0.973 (Sensitivity: 0.76; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000107371
Gene: ENSMUSG00000030268
AA Change: V152A
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Aminotran_4
|
111 |
354 |
1.7e-26 |
PFAM |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000123930
AA Change: V151A
PolyPhen 2
Score 0.604 (Sensitivity: 0.87; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000120180
Gene: ENSMUSG00000030268
AA Change: V151A
| 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: V2A
|
| SMART Domains |
Protein: ENSMUSP00000117708
Gene: ENSMUSG00000030268
AA Change: V2A
| 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 |
possibly damaging
Transcript: ENSMUST00000149769
AA Change: V127A
PolyPhen 2
Score 0.716 (Sensitivity: 0.86; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000116091
Gene: ENSMUSG00000030268
AA Change: V127A
| Domain | Start | End | E-Value | Type |
|---|
|
PDB:2ABJ|J
|
2 |
136 |
1e-78 |
PDB |
|
SCOP:d1ekfa_
|
2 |
136 |
1e-49 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000204138
|
| SMART Domains |
Protein: ENSMUSP00000144968
Gene: ENSMUSG00000030268
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Aminotran_4
|
34 |
180 |
9.1e-17 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000155693
|
| SMART Domains |
Protein: ENSMUSP00000116565
Gene: ENSMUSG00000030268
| Domain | Start | End | E-Value | Type |
|---|
|
PDB:2COJ|B
|
1 |
112 |
8e-64 |
PDB |
|
SCOP:d1ekfa_
|
1 |
112 |
2e-39 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000154611
|
| SMART Domains |
Protein: ENSMUSP00000123137
Gene: ENSMUSG00000030268
| Domain | Start | End | E-Value | Type |
|---|
|
PDB:2COJ|B
|
1 |
84 |
2e-46 |
PDB |
|
SCOP:d1ekfa_
|
1 |
84 |
4e-28 |
SMART |
|
| 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 |
|---|
| Aass |
G |
A |
6: 23,113,705 (GRCm39) |
H246Y |
probably damaging |
Het |
| Abat |
G |
A |
16: 8,429,000 (GRCm39) |
A322T |
probably damaging |
Het |
| Btaf1 |
A |
G |
19: 36,969,826 (GRCm39) |
|
probably benign |
Het |
| Elavl2 |
T |
C |
4: 91,141,776 (GRCm39) |
T291A |
probably benign |
Het |
| Ezh1 |
G |
T |
11: 101,090,166 (GRCm39) |
H529Q |
probably damaging |
Het |
| Fcgbp |
G |
A |
7: 27,805,799 (GRCm39) |
C2026Y |
probably damaging |
Het |
| Fcgrt |
T |
A |
7: 44,744,682 (GRCm39) |
H258L |
probably damaging |
Het |
| Galnt6 |
C |
T |
15: 100,601,374 (GRCm39) |
D302N |
probably benign |
Het |
| Gldc |
T |
A |
19: 30,078,227 (GRCm39) |
R923S |
probably damaging |
Het |
| Hspg2 |
G |
T |
4: 137,267,384 (GRCm39) |
A2033S |
probably damaging |
Het |
| Htr2c |
T |
A |
X: 145,858,921 (GRCm39) |
M77K |
probably damaging |
Het |
| Ifi208 |
A |
G |
1: 173,510,856 (GRCm39) |
Y337C |
probably damaging |
Het |
| Ints11 |
G |
T |
4: 155,972,972 (GRCm39) |
W554L |
probably damaging |
Het |
| Itgbl1 |
T |
A |
14: 124,094,904 (GRCm39) |
C186S |
probably damaging |
Het |
| Lipf |
A |
G |
19: 33,953,995 (GRCm39) |
Y362C |
probably damaging |
Het |
| Map2k7 |
T |
A |
8: 4,297,663 (GRCm39) |
S421R |
possibly damaging |
Het |
| Mroh9 |
T |
G |
1: 162,890,071 (GRCm39) |
N222T |
possibly damaging |
Het |
| Msl3 |
C |
A |
X: 167,453,247 (GRCm39) |
R89L |
probably benign |
Het |
| Nrip1 |
T |
A |
16: 76,088,563 (GRCm39) |
D998V |
probably benign |
Het |
| Nrk |
T |
A |
X: 137,896,678 (GRCm39) |
I1265N |
probably damaging |
Het |
| Ntn5 |
A |
G |
7: 45,340,830 (GRCm39) |
|
probably benign |
Het |
| Or11g27 |
A |
G |
14: 50,771,307 (GRCm39) |
N146S |
probably benign |
Het |
| Or5w20 |
A |
T |
2: 87,727,243 (GRCm39) |
R233S |
possibly damaging |
Het |
| Or6s1 |
T |
G |
14: 51,308,766 (GRCm39) |
E28A |
probably benign |
Het |
| Plch2 |
T |
C |
4: 155,127,595 (GRCm39) |
|
probably benign |
Het |
| Porcn |
C |
T |
X: 8,067,901 (GRCm39) |
V233I |
probably benign |
Het |
| Ppp2r2a |
T |
C |
14: 67,276,361 (GRCm39) |
K48R |
probably benign |
Het |
| Ppp4r3c1 |
G |
A |
X: 88,975,129 (GRCm39) |
T356I |
probably benign |
Het |
| Rccd1 |
A |
T |
7: 79,968,755 (GRCm39) |
D268E |
probably benign |
Het |
| Sacs |
C |
A |
14: 61,427,127 (GRCm39) |
S178R |
probably damaging |
Het |
| Samd12 |
T |
A |
15: 53,521,862 (GRCm39) |
D116V |
probably damaging |
Het |
| Slc12a8 |
A |
G |
16: 33,428,568 (GRCm39) |
E46G |
probably damaging |
Het |
| Slc30a10 |
A |
T |
1: 185,187,438 (GRCm39) |
I60F |
possibly damaging |
Het |
| Slc6a8 |
C |
T |
X: 72,722,583 (GRCm39) |
|
probably benign |
Het |
| Sos2 |
A |
G |
12: 69,664,822 (GRCm39) |
|
probably benign |
Het |
| Tbc1d31 |
T |
C |
15: 57,783,338 (GRCm39) |
V79A |
probably benign |
Het |
| Tmem184c |
A |
T |
8: 78,331,443 (GRCm39) |
V102E |
probably benign |
Het |
| Ttc19 |
G |
T |
11: 62,203,939 (GRCm39) |
R300I |
probably damaging |
Het |
| Unc5d |
T |
A |
8: 29,142,855 (GRCm39) |
I866F |
probably benign |
Het |
| Vmn1r7 |
A |
T |
6: 57,001,874 (GRCm39) |
C129S |
probably benign |
Het |
| Vps41 |
T |
A |
13: 18,975,827 (GRCm39) |
|
probably benign |
Het |
| Vwa8 |
C |
T |
14: 79,331,724 (GRCm39) |
A1275V |
possibly damaging |
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 |
|
|
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 |
2014-05-07 |
Incidental Mutation