Incidental Mutation 'R5414:Bcat1'
| ID |
427633 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Bcat1
|
| Ensembl Gene |
ENSMUSG00000030268 |
| Gene Name |
branched chain aminotransferase 1, cytosolic |
| Synonyms |
Eca39, BCATc, Bcat-1 |
| MMRRC Submission |
042983-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.105)
|
| Stock # |
R5414 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
6 |
| Chromosomal Location |
144939561-145021883 bp(-) (GRCm39) |
| Type of Mutation |
critical splice donor site (2 bp from exon) |
| DNA Base Change (assembly) |
A to G
at 144961173 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000144968
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000032402]
[ENSMUST00000048252]
[ENSMUST00000111742]
[ENSMUST00000123930]
[ENSMUST00000204138]
[ENSMUST00000204138]
|
| AlphaFold |
P24288 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000032402
|
| SMART Domains |
Protein: ENSMUSP00000032402
Gene: ENSMUSG00000030268
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Aminotran_4
|
160 |
410 |
1.3e-34 |
PFAM |
|
| Predicted Effect |
probably null
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 null
Transcript: ENSMUST00000111742
|
| SMART Domains |
Protein: ENSMUSP00000107371
Gene: ENSMUSG00000030268
| 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 null
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 |
probably null
Transcript: ENSMUST00000204138
|
| SMART Domains |
Protein: ENSMUSP00000144968
Gene: ENSMUSG00000030268
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Aminotran_4
|
34 |
180 |
9.1e-17 |
PFAM |
|
| Meta Mutation Damage Score |
0.9592 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.1%
- 20x: 94.9%
|
| Validation Efficiency |
100% (55/55) |
| 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: 51 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca5 |
A |
G |
11: 110,205,448 (GRCm39) |
S278P |
probably damaging |
Het |
| Acan |
A |
G |
7: 78,750,736 (GRCm39) |
T1836A |
probably benign |
Het |
| Akr1c18 |
T |
A |
13: 4,186,734 (GRCm39) |
D238V |
probably damaging |
Het |
| Akt3 |
A |
G |
1: 176,877,817 (GRCm39) |
V317A |
probably damaging |
Het |
| Atp2b2 |
G |
A |
6: 113,819,102 (GRCm39) |
P64S |
probably damaging |
Het |
| Atr |
A |
G |
9: 95,752,757 (GRCm39) |
N609S |
probably benign |
Het |
| C1rl |
C |
T |
6: 124,485,427 (GRCm39) |
A266V |
probably damaging |
Het |
| Cd34 |
A |
G |
1: 194,630,219 (GRCm39) |
E51G |
probably benign |
Het |
| Celsr3 |
A |
G |
9: 108,717,241 (GRCm39) |
E2161G |
possibly damaging |
Het |
| Clec2h |
G |
T |
6: 128,651,749 (GRCm39) |
A153S |
probably benign |
Het |
| Cnih1 |
T |
C |
14: 47,016,440 (GRCm39) |
T105A |
probably benign |
Het |
| Coro1c |
A |
G |
5: 113,986,607 (GRCm39) |
I279T |
possibly damaging |
Het |
| Ddx11 |
A |
G |
17: 66,455,763 (GRCm39) |
T721A |
probably benign |
Het |
| Fbn2 |
C |
A |
18: 58,226,477 (GRCm39) |
A766S |
probably damaging |
Het |
| Focad |
C |
T |
4: 88,328,939 (GRCm39) |
|
probably benign |
Het |
| Galnt16 |
A |
T |
12: 80,630,822 (GRCm39) |
D300V |
probably damaging |
Het |
| Gbp2b |
T |
C |
3: 142,304,852 (GRCm39) |
L96P |
probably damaging |
Het |
| Gm10192 |
T |
C |
4: 97,071,346 (GRCm39) |
S20G |
probably null |
Het |
| Gm10288 |
T |
C |
3: 146,544,717 (GRCm39) |
|
noncoding transcript |
Het |
| Gm4181 |
C |
T |
14: 51,873,047 (GRCm39) |
|
probably null |
Het |
| Gm6327 |
T |
A |
16: 12,578,222 (GRCm39) |
|
noncoding transcript |
Het |
| Hfm1 |
A |
G |
5: 107,049,942 (GRCm39) |
I409T |
probably damaging |
Het |
| Ibtk |
T |
C |
9: 85,608,742 (GRCm39) |
E390G |
possibly damaging |
Het |
| Ifit1bl1 |
T |
A |
19: 34,571,324 (GRCm39) |
I378F |
probably damaging |
Het |
| Kcnh4 |
T |
C |
11: 100,637,722 (GRCm39) |
D645G |
probably damaging |
Het |
| Krt33b |
T |
C |
11: 99,920,612 (GRCm39) |
T14A |
probably benign |
Het |
| Lrch3 |
T |
A |
16: 32,806,335 (GRCm39) |
|
probably null |
Het |
| Mycbp2 |
A |
T |
14: 103,543,697 (GRCm39) |
L226H |
probably damaging |
Het |
| Myo1e |
C |
A |
9: 70,229,640 (GRCm39) |
|
probably null |
Het |
| Nos1ap |
T |
A |
1: 170,176,968 (GRCm39) |
K145M |
probably damaging |
Het |
| Nploc4 |
A |
T |
11: 120,304,469 (GRCm39) |
Y251N |
probably damaging |
Het |
| Or4b12 |
T |
C |
2: 90,096,046 (GRCm39) |
T243A |
probably benign |
Het |
| Pdk4 |
T |
C |
6: 5,485,499 (GRCm39) |
I397V |
probably benign |
Het |
| Pdzrn3 |
C |
T |
6: 101,130,272 (GRCm39) |
D515N |
probably damaging |
Het |
| Pgm5 |
A |
G |
19: 24,686,689 (GRCm39) |
I506T |
probably damaging |
Het |
| Pgs1 |
T |
G |
11: 117,905,502 (GRCm39) |
I499S |
probably damaging |
Het |
| Ppp6r3 |
A |
G |
19: 3,557,330 (GRCm39) |
S253P |
probably damaging |
Het |
| Prag1 |
C |
G |
8: 36,606,776 (GRCm39) |
P839R |
probably benign |
Het |
| Rin3 |
C |
T |
12: 102,356,116 (GRCm39) |
Q806* |
probably null |
Het |
| Ros1 |
T |
C |
10: 52,031,189 (GRCm39) |
D484G |
probably damaging |
Het |
| Scamp5 |
A |
G |
9: 57,354,507 (GRCm39) |
V49A |
probably benign |
Het |
| Sis |
C |
A |
3: 72,859,826 (GRCm39) |
V310L |
probably benign |
Het |
| Svep1 |
T |
C |
4: 58,206,322 (GRCm39) |
T19A |
possibly damaging |
Het |
| Tcstv2b |
A |
C |
13: 120,373,872 (GRCm39) |
D139E |
probably damaging |
Het |
| Tenm3 |
A |
C |
8: 48,689,390 (GRCm39) |
S2066A |
probably damaging |
Het |
| Thra |
A |
G |
11: 98,651,783 (GRCm39) |
I102V |
probably benign |
Het |
| Trim30a |
A |
C |
7: 104,060,348 (GRCm39) |
V476G |
probably damaging |
Het |
| Vmn2r3 |
T |
A |
3: 64,166,978 (GRCm39) |
R718* |
probably null |
Het |
| Washc4 |
A |
G |
10: 83,391,967 (GRCm39) |
T218A |
possibly damaging |
Het |
| Xrcc1 |
A |
G |
7: 24,269,643 (GRCm39) |
Y401C |
probably damaging |
Het |
| Zfp629 |
T |
C |
7: 127,210,454 (GRCm39) |
T452A |
probably 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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- CTCAGTTTGAAATCAGTCTCAAGC -3'
(R):5'- TTGGCCACCTTCAAGTCTTAAAC -3'
Sequencing Primer
(F):5'- TGAAATCAGTCTCAAGCTTTTCAAG -3'
(R):5'- CCTTCAAGTCTTAAACGCTAACTC -3'
|
| Posted On |
2016-09-01 |
Incidental Mutation