Incidental Mutation 'R6566:Bcat1'
| ID |
522671 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Bcat1
|
| Ensembl Gene |
ENSMUSG00000030268 |
| Gene Name |
branched chain aminotransferase 1, cytosolic |
| Synonyms |
Eca39, BCATc, Bcat-1 |
| MMRRC Submission |
044690-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.105)
|
| Stock # |
R6566 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
6 |
| Chromosomal Location |
144939561-145021883 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 144961210 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Methionine to Threonine
at position 131
(M131T)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000144968
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000032402]
[ENSMUST00000048252]
[ENSMUST00000111742]
[ENSMUST00000123930]
[ENSMUST00000204138]
|
| AlphaFold |
P24288 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000032402
AA Change: M328T
PolyPhen 2
Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000032402
Gene: ENSMUSG00000030268
AA Change: M328T
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Aminotran_4
|
160 |
410 |
1.3e-34 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000048252
AA Change: M261T
PolyPhen 2
Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000039744
Gene: ENSMUSG00000030268
AA Change: M261T
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Aminotran_4
|
111 |
354 |
5.9e-26 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000111742
AA Change: M261T
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000107371
Gene: ENSMUSG00000030268
AA Change: M261T
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Aminotran_4
|
111 |
354 |
1.7e-26 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000123930
|
| SMART Domains |
Protein: ENSMUSP00000120180
Gene: ENSMUSG00000030268
| 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 |
probably benign
Transcript: ENSMUST00000136819
|
| SMART Domains |
Protein: ENSMUSP00000117708
Gene: ENSMUSG00000030268
| 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: M131T
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000144968
Gene: ENSMUSG00000030268
AA Change: M131T
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Aminotran_4
|
34 |
180 |
9.1e-17 |
PFAM |
|
| Meta Mutation Damage Score |
0.9420 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.3%
- 20x: 97.6%
|
| Validation Efficiency |
100% (36/36) |
| 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: 34 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcd2 |
A |
G |
15: 91,075,321 (GRCm39) |
I164T |
probably damaging |
Het |
| Adad2 |
C |
T |
8: 120,340,971 (GRCm39) |
P164S |
probably benign |
Het |
| Adcy3 |
T |
A |
12: 4,244,324 (GRCm39) |
L278H |
probably damaging |
Het |
| Aldh16a1 |
A |
C |
7: 44,792,651 (GRCm39) |
D670E |
probably benign |
Het |
| Dcstamp |
T |
C |
15: 39,617,732 (GRCm39) |
F47S |
possibly damaging |
Het |
| Dsg1b |
T |
C |
18: 20,530,499 (GRCm39) |
F385L |
probably damaging |
Het |
| Exoc8 |
A |
C |
8: 125,622,783 (GRCm39) |
L528R |
probably damaging |
Het |
| Fat4 |
T |
C |
3: 39,011,275 (GRCm39) |
V2125A |
possibly damaging |
Het |
| Gm57859 |
C |
T |
11: 113,578,824 (GRCm39) |
P73L |
probably damaging |
Het |
| Hecw1 |
T |
C |
13: 14,471,868 (GRCm39) |
D600G |
probably damaging |
Het |
| Ice2 |
G |
A |
9: 69,323,511 (GRCm39) |
V669I |
probably benign |
Het |
| Khdc4 |
C |
T |
3: 88,618,961 (GRCm39) |
T555M |
probably damaging |
Het |
| Lsr |
T |
A |
7: 30,671,508 (GRCm39) |
Y75F |
possibly damaging |
Het |
| Mrps30 |
C |
A |
13: 118,523,662 (GRCm39) |
V37L |
probably benign |
Het |
| Myl10 |
G |
C |
5: 136,726,825 (GRCm39) |
V70L |
probably benign |
Het |
| Or6c217 |
T |
A |
10: 129,737,947 (GRCm39) |
I211L |
probably benign |
Het |
| Pign |
A |
G |
1: 105,565,906 (GRCm39) |
|
probably null |
Het |
| Plcd3 |
A |
G |
11: 102,964,626 (GRCm39) |
Y582H |
probably damaging |
Het |
| Rad9b |
A |
G |
5: 122,490,630 (GRCm39) |
W29R |
probably damaging |
Het |
| Rb1cc1 |
T |
A |
1: 6,319,316 (GRCm39) |
F912I |
probably benign |
Het |
| Rgs16 |
C |
T |
1: 153,619,546 (GRCm39) |
S184L |
unknown |
Het |
| Runx2 |
A |
G |
17: 45,125,375 (GRCm39) |
|
probably null |
Het |
| Serpina1f |
T |
A |
12: 103,659,794 (GRCm39) |
I163F |
probably damaging |
Het |
| Serpina9 |
T |
C |
12: 103,963,296 (GRCm39) |
E404G |
possibly damaging |
Het |
| Slc4a4 |
T |
C |
5: 89,297,192 (GRCm39) |
S511P |
possibly damaging |
Het |
| Speg |
A |
T |
1: 75,365,107 (GRCm39) |
E390V |
probably damaging |
Het |
| Syne3 |
A |
G |
12: 104,912,966 (GRCm39) |
V614A |
probably benign |
Het |
| Tmc5 |
T |
C |
7: 118,247,067 (GRCm39) |
S524P |
probably damaging |
Het |
| Tuba4a |
G |
A |
1: 75,193,930 (GRCm39) |
T51I |
probably damaging |
Het |
| Tymp |
T |
A |
15: 89,257,803 (GRCm39) |
T421S |
probably benign |
Het |
| Uvssa |
A |
G |
5: 33,549,520 (GRCm39) |
R394G |
possibly damaging |
Het |
| Wdr7 |
T |
G |
18: 63,888,126 (GRCm39) |
I533S |
possibly damaging |
Het |
| Zbtb5 |
G |
A |
4: 44,994,508 (GRCm39) |
T292M |
probably damaging |
Het |
| Zfp944 |
T |
G |
17: 22,558,726 (GRCm39) |
K174Q |
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 |
|
|
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- CTCAGTTTGAAATCAGTCTCAAGC -3'
(R):5'- GCCACCTTCAAGTCTTAAACGC -3'
Sequencing Primer
(F):5'- TGAAATCAGTCTCAAGCTTTTCAAG -3'
(R):5'- CCTTCAAGTCTTAAACGCTAACTC -3'
|
| Posted On |
2018-06-06 |
Incidental Mutation