Incidental Mutation 'IGL02383:Bcat2'
| ID |
291438 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Bcat2
|
| Ensembl Gene |
ENSMUSG00000030826 |
| Gene Name |
branched chain aminotransferase 2, mitochondrial |
| Synonyms |
Eca40, Bcat-2 |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.116)
|
| Stock # |
IGL02383
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
7 |
| Chromosomal Location |
45219773-45239134 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 45237431 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Glutamine
at position 305
(L305Q)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000033098
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000033098]
[ENSMUST00000120864]
[ENSMUST00000209204]
[ENSMUST00000210811]
[ENSMUST00000211173]
|
| AlphaFold |
O35855 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000033098
AA Change: L305Q
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000033098
Gene: ENSMUSG00000030826
AA Change: L305Q
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Aminotran_4
|
101 |
351 |
5.4e-33 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000120864
AA Change: L300Q
PolyPhen 2
Score 0.984 (Sensitivity: 0.74; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000113045
Gene: ENSMUSG00000030826
AA Change: L300Q
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Aminotran_4
|
119 |
370 |
7.6e-27 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000209204
AA Change: L265Q
PolyPhen 2
Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000209410
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000209543
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000209569
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000210811
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000211173
AA Change: L265Q
PolyPhen 2
Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
|
| 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 a branched chain aminotransferase found in mitochondria. The encoded protein forms a dimer that catalyzes the first step in the production of the branched chain amino acids leucine, isoleucine, and valine. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Sep 2009]
PHENOTYPE: The metabolism of branched chain amino acid is impaired in homozygous null mice, resulting in a phenotype similar to human maple syrup urine disease. Mutants exhibit a failure to thrive and die prematurely, though the severity of the symptoms can be ameliorated with a restricted diet. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 50 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 5530400C23Rik |
T |
C |
6: 133,269,205 (GRCm39) |
|
probably benign |
Het |
| Adap2 |
C |
A |
11: 80,051,015 (GRCm39) |
A115D |
probably damaging |
Het |
| Ankrd1 |
A |
G |
19: 36,097,165 (GRCm39) |
V6A |
probably benign |
Het |
| Apobr |
T |
A |
7: 126,185,779 (GRCm39) |
V430E |
probably benign |
Het |
| Arhgap28 |
A |
G |
17: 68,203,084 (GRCm39) |
V123A |
probably benign |
Het |
| Atp2b2 |
A |
G |
6: 113,790,903 (GRCm39) |
V167A |
probably damaging |
Het |
| B3galnt2 |
A |
T |
13: 14,171,618 (GRCm39) |
*505C |
probably null |
Het |
| Coa8 |
T |
A |
12: 111,690,847 (GRCm39) |
|
probably benign |
Het |
| Col9a1 |
T |
C |
1: 24,224,339 (GRCm39) |
S174P |
unknown |
Het |
| Ddx41 |
A |
T |
13: 55,680,170 (GRCm39) |
D418E |
probably benign |
Het |
| Defa40 |
A |
G |
8: 21,740,377 (GRCm39) |
D61G |
probably damaging |
Het |
| Exoc6 |
T |
C |
19: 37,566,922 (GRCm39) |
F240L |
probably benign |
Het |
| Fbln7 |
G |
A |
2: 128,737,477 (GRCm39) |
V431I |
probably benign |
Het |
| Gfral |
T |
A |
9: 76,104,374 (GRCm39) |
N213Y |
probably damaging |
Het |
| Golgb1 |
A |
G |
16: 36,706,562 (GRCm39) |
D22G |
probably benign |
Het |
| H2-M1 |
G |
A |
17: 36,981,141 (GRCm39) |
T298I |
unknown |
Het |
| Haus3 |
A |
T |
5: 34,323,580 (GRCm39) |
Y343* |
probably null |
Het |
| Hid1 |
T |
C |
11: 115,243,446 (GRCm39) |
E534G |
probably damaging |
Het |
| Il4ra |
T |
C |
7: 125,170,676 (GRCm39) |
V196A |
probably benign |
Het |
| Itm2b |
C |
A |
14: 73,600,536 (GRCm39) |
E255* |
probably null |
Het |
| Kidins220 |
A |
T |
12: 25,047,332 (GRCm39) |
|
probably benign |
Het |
| Klhl22 |
T |
A |
16: 17,594,762 (GRCm39) |
F297Y |
possibly damaging |
Het |
| Krt9 |
T |
C |
11: 100,082,041 (GRCm39) |
E253G |
probably damaging |
Het |
| Man2a2 |
G |
A |
7: 80,009,388 (GRCm39) |
A822V |
probably damaging |
Het |
| Map3k6 |
T |
A |
4: 132,973,932 (GRCm39) |
|
probably null |
Het |
| Med29 |
C |
A |
7: 28,086,448 (GRCm39) |
R120L |
possibly damaging |
Het |
| Napa |
C |
T |
7: 15,846,503 (GRCm39) |
|
probably benign |
Het |
| Ncapd3 |
T |
A |
9: 26,961,624 (GRCm39) |
Y351N |
probably benign |
Het |
| Nphs1 |
C |
T |
7: 30,181,060 (GRCm39) |
|
probably benign |
Het |
| Or5b94 |
A |
G |
19: 12,651,899 (GRCm39) |
D110G |
probably benign |
Het |
| Prss16 |
T |
C |
13: 22,193,697 (GRCm39) |
I33V |
probably benign |
Het |
| Ripk1 |
A |
G |
13: 34,199,227 (GRCm39) |
Y193C |
probably damaging |
Het |
| Rph3a |
C |
T |
5: 121,102,002 (GRCm39) |
R78H |
probably damaging |
Het |
| Rrp9 |
T |
A |
9: 106,362,471 (GRCm39) |
I452N |
probably damaging |
Het |
| Ryr2 |
A |
T |
13: 11,737,607 (GRCm39) |
|
probably benign |
Het |
| Sec23a |
A |
G |
12: 59,048,813 (GRCm39) |
L103P |
probably damaging |
Het |
| Slc17a9 |
A |
C |
2: 180,377,674 (GRCm39) |
D190A |
probably benign |
Het |
| Slc44a4 |
G |
A |
17: 35,146,686 (GRCm39) |
V422I |
probably benign |
Het |
| Smc5 |
C |
T |
19: 23,191,996 (GRCm39) |
|
probably benign |
Het |
| Tax1bp1 |
C |
T |
6: 52,730,351 (GRCm39) |
S611F |
probably benign |
Het |
| Tmem38b |
G |
A |
4: 53,854,345 (GRCm39) |
M192I |
probably benign |
Het |
| Unc45a |
G |
T |
7: 79,989,410 (GRCm39) |
C34* |
probably null |
Het |
| Usp46 |
T |
A |
5: 74,190,014 (GRCm39) |
M6L |
probably benign |
Het |
| Uspl1 |
G |
A |
5: 149,150,212 (GRCm39) |
V471M |
probably damaging |
Het |
| Vmn1r35 |
T |
A |
6: 66,655,875 (GRCm39) |
Q265L |
probably damaging |
Het |
| Vmn1r35 |
G |
T |
6: 66,655,876 (GRCm39) |
Q265K |
probably damaging |
Het |
| Vmn1r50 |
A |
G |
6: 90,084,461 (GRCm39) |
I69V |
possibly damaging |
Het |
| Vps33b |
A |
G |
7: 79,935,082 (GRCm39) |
|
probably null |
Het |
| Xntrpc |
A |
C |
7: 101,742,802 (GRCm39) |
D604A |
probably damaging |
Het |
| Yeats4 |
T |
A |
10: 117,051,716 (GRCm39) |
R180S |
probably benign |
Het |
|
| Other mutations in Bcat2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01382:Bcat2
|
APN |
7 |
45,237,684 (GRCm39) |
missense |
probably damaging |
0.97 |
|
IGL03157:Bcat2
|
APN |
7 |
45,224,922 (GRCm39) |
missense |
probably benign |
|
|
IGL03226:Bcat2
|
APN |
7 |
45,237,778 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Bearcat
|
UTSW |
7 |
45,237,792 (GRCm39) |
missense |
possibly damaging |
0.76 |
|
prematurely
|
UTSW |
7 |
45,237,446 (GRCm39) |
critical splice donor site |
probably null |
|
|
skunkbear
|
UTSW |
7 |
45,225,294 (GRCm39) |
missense |
probably damaging |
0.99 |
|
P0022:Bcat2
|
UTSW |
7 |
45,237,769 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1251:Bcat2
|
UTSW |
7 |
45,225,410 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1940:Bcat2
|
UTSW |
7 |
45,237,792 (GRCm39) |
missense |
possibly damaging |
0.76 |
|
R5446:Bcat2
|
UTSW |
7 |
45,234,569 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
R6243:Bcat2
|
UTSW |
7 |
45,237,691 (GRCm39) |
missense |
probably benign |
0.19 |
|
R6932:Bcat2
|
UTSW |
7 |
45,238,745 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R7336:Bcat2
|
UTSW |
7 |
45,224,909 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7434:Bcat2
|
UTSW |
7 |
45,225,429 (GRCm39) |
splice site |
probably null |
|
|
R7645:Bcat2
|
UTSW |
7 |
45,237,387 (GRCm39) |
missense |
probably benign |
0.04 |
|
R7732:Bcat2
|
UTSW |
7 |
45,234,617 (GRCm39) |
missense |
possibly damaging |
0.65 |
|
R7736:Bcat2
|
UTSW |
7 |
45,234,617 (GRCm39) |
missense |
possibly damaging |
0.65 |
|
R8140:Bcat2
|
UTSW |
7 |
45,237,775 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8474:Bcat2
|
UTSW |
7 |
45,237,075 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8782:Bcat2
|
UTSW |
7 |
45,234,917 (GRCm39) |
missense |
probably benign |
|
|
R9112:Bcat2
|
UTSW |
7 |
45,237,446 (GRCm39) |
critical splice donor site |
probably null |
|
|
R9320:Bcat2
|
UTSW |
7 |
45,234,542 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R9365:Bcat2
|
UTSW |
7 |
45,225,294 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R9449:Bcat2
|
UTSW |
7 |
45,234,980 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
| Posted On |
2015-04-16 |
Incidental Mutation