Incidental Mutation 'R7015:Bcat1'
| ID |
545250 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Bcat1
|
| Ensembl Gene |
ENSMUSG00000030268 |
| Gene Name |
branched chain aminotransferase 1, cytosolic |
| Synonyms |
Eca39, BCATc, Bcat-1 |
| MMRRC Submission |
045116-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.105)
|
| Stock # |
R7015 (G1)
|
| Quality Score |
85.0076 |
|
Status
|
Validated
|
| Chromosome |
6 |
| Chromosomal Location |
144939561-145021883 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to C
at 144985309 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Proline to Arginine
at position 43
(P43R)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000120180
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000032402]
[ENSMUST00000048252]
[ENSMUST00000111742]
[ENSMUST00000123930]
[ENSMUST00000149769]
[ENSMUST00000204138]
|
| AlphaFold |
P24288 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000032402
AA Change: P111R
PolyPhen 2
Score 0.986 (Sensitivity: 0.74; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000032402
Gene: ENSMUSG00000030268
AA Change: P111R
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Aminotran_4
|
160 |
410 |
1.3e-34 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000048252
AA Change: P44R
PolyPhen 2
Score 0.986 (Sensitivity: 0.74; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000039744
Gene: ENSMUSG00000030268
AA Change: P44R
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Aminotran_4
|
111 |
354 |
5.9e-26 |
PFAM |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000111742
AA Change: P44R
PolyPhen 2
Score 0.898 (Sensitivity: 0.82; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000107371
Gene: ENSMUSG00000030268
AA Change: P44R
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Aminotran_4
|
111 |
354 |
1.7e-26 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000123930
AA Change: P43R
PolyPhen 2
Score 0.990 (Sensitivity: 0.72; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000120180
Gene: ENSMUSG00000030268
AA Change: P43R
| 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 damaging
Transcript: ENSMUST00000149769
AA Change: P19R
PolyPhen 2
Score 0.984 (Sensitivity: 0.74; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000116091
Gene: ENSMUSG00000030268
AA Change: P19R
| 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 |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.6%
- 20x: 98.6%
|
| Validation Efficiency |
93% (55/59) |
| 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: 58 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930523C07Rik |
A |
G |
1: 159,902,738 (GRCm39) |
R3G |
possibly damaging |
Het |
| Abcc2 |
A |
G |
19: 43,786,617 (GRCm39) |
I150V |
probably benign |
Het |
| Adgrb1 |
T |
C |
15: 74,445,959 (GRCm39) |
L1085P |
probably damaging |
Het |
| Agbl4 |
A |
G |
4: 110,335,697 (GRCm39) |
N24D |
probably damaging |
Het |
| Aox1 |
A |
G |
1: 58,321,917 (GRCm39) |
T70A |
probably benign |
Het |
| Aplf |
G |
A |
6: 87,618,884 (GRCm39) |
A399V |
probably damaging |
Het |
| Asxl3 |
A |
G |
18: 22,656,978 (GRCm39) |
S1663G |
probably benign |
Het |
| Camk1 |
T |
C |
6: 113,318,887 (GRCm39) |
R9G |
probably benign |
Het |
| Casp8ap2 |
T |
C |
4: 32,644,278 (GRCm39) |
V1117A |
probably damaging |
Het |
| Cd300ld4 |
A |
T |
11: 114,913,533 (GRCm39) |
V174E |
probably benign |
Het |
| Cep85l |
T |
C |
10: 53,225,151 (GRCm39) |
D146G |
possibly damaging |
Het |
| Clip1 |
T |
C |
5: 123,751,675 (GRCm39) |
|
probably benign |
Het |
| Cog3 |
C |
T |
14: 75,950,716 (GRCm39) |
V719I |
possibly damaging |
Het |
| Col4a4 |
G |
A |
1: 82,484,671 (GRCm39) |
P532L |
unknown |
Het |
| Col6a4 |
C |
T |
9: 105,910,954 (GRCm39) |
|
probably null |
Het |
| Dync1h1 |
C |
T |
12: 110,632,521 (GRCm39) |
Q4547* |
probably null |
Het |
| Ergic1 |
G |
A |
17: 26,873,853 (GRCm39) |
|
probably benign |
Het |
| Foxn4 |
G |
A |
5: 114,394,916 (GRCm39) |
T337M |
possibly damaging |
Het |
| Gemin5 |
A |
T |
11: 58,047,566 (GRCm39) |
I336N |
probably damaging |
Het |
| Gm21905 |
A |
T |
5: 68,103,705 (GRCm39) |
|
probably null |
Het |
| Grik2 |
C |
A |
10: 49,411,532 (GRCm39) |
R202L |
probably damaging |
Het |
| Iglon5 |
T |
C |
7: 43,126,351 (GRCm39) |
D184G |
probably benign |
Het |
| Il11ra1 |
A |
T |
4: 41,765,421 (GRCm39) |
Q172L |
probably benign |
Het |
| Me2 |
G |
T |
18: 73,914,218 (GRCm39) |
|
probably null |
Het |
| Med24 |
A |
G |
11: 98,609,678 (GRCm39) |
V73A |
possibly damaging |
Het |
| Mmp24 |
A |
G |
2: 155,634,544 (GRCm39) |
Q88R |
probably damaging |
Het |
| Mroh3 |
A |
T |
1: 136,111,069 (GRCm39) |
V819E |
probably damaging |
Het |
| Mrps9 |
A |
G |
1: 42,937,706 (GRCm39) |
K247R |
probably benign |
Het |
| Myo15b |
G |
A |
11: 115,762,670 (GRCm39) |
R1254H |
|
Het |
| Ncoa5 |
A |
G |
2: 164,844,001 (GRCm39) |
L134P |
probably benign |
Het |
| Or4d5 |
A |
T |
9: 40,012,751 (GRCm39) |
F12I |
probably benign |
Het |
| Or51e2 |
C |
A |
7: 102,391,651 (GRCm39) |
L186F |
probably damaging |
Het |
| Or52a24 |
T |
C |
7: 103,382,024 (GRCm39) |
V297A |
probably null |
Het |
| Pdcd11 |
A |
G |
19: 47,086,665 (GRCm39) |
I224V |
probably benign |
Het |
| Ptprh |
C |
A |
7: 4,555,626 (GRCm39) |
|
probably null |
Het |
| Rab34 |
G |
T |
11: 78,080,978 (GRCm39) |
V63F |
probably damaging |
Het |
| Rack1 |
T |
C |
11: 48,692,592 (GRCm39) |
I71T |
probably benign |
Het |
| Rai14 |
G |
A |
15: 10,589,401 (GRCm39) |
R266* |
probably null |
Het |
| Rsph9 |
A |
G |
17: 46,440,382 (GRCm39) |
V238A |
probably benign |
Het |
| Rsrc1 |
C |
T |
3: 66,901,982 (GRCm39) |
P44L |
unknown |
Het |
| Sel1l3 |
A |
T |
5: 53,329,916 (GRCm39) |
C480S |
probably benign |
Het |
| Sh3pxd2a |
C |
T |
19: 47,256,562 (GRCm39) |
A747T |
probably benign |
Het |
| Slc1a3 |
T |
C |
15: 8,679,052 (GRCm39) |
N181S |
probably damaging |
Het |
| Slit1 |
T |
A |
19: 41,618,325 (GRCm39) |
K784* |
probably null |
Het |
| Sos2 |
T |
A |
12: 69,632,009 (GRCm39) |
Q1297L |
probably benign |
Het |
| Srd5a2 |
T |
A |
17: 74,334,114 (GRCm39) |
T102S |
probably benign |
Het |
| Ss18l2 |
A |
T |
9: 121,541,674 (GRCm39) |
I64F |
probably damaging |
Het |
| Tas2r120 |
T |
C |
6: 132,634,128 (GRCm39) |
F70S |
possibly damaging |
Het |
| Tjap1 |
G |
A |
17: 46,574,700 (GRCm39) |
A5V |
possibly damaging |
Het |
| Tln2 |
A |
T |
9: 67,269,929 (GRCm39) |
M488K |
possibly damaging |
Het |
| Tnks |
T |
G |
8: 35,305,701 (GRCm39) |
I42L |
probably benign |
Het |
| Togaram2 |
A |
T |
17: 72,016,563 (GRCm39) |
Q640L |
possibly damaging |
Het |
| Triobp |
C |
A |
15: 78,878,260 (GRCm39) |
Q1682K |
probably damaging |
Het |
| Trip11 |
C |
T |
12: 101,859,942 (GRCm39) |
E311K |
probably damaging |
Het |
| Ugt2b5 |
A |
G |
5: 87,287,655 (GRCm39) |
Y171H |
probably damaging |
Het |
| Vmn2r66 |
T |
C |
7: 84,644,766 (GRCm39) |
D548G |
possibly damaging |
Het |
| Zfp990 |
G |
T |
4: 145,263,205 (GRCm39) |
D68Y |
probably damaging |
Het |
| Zranb2 |
A |
T |
3: 157,242,370 (GRCm39) |
|
probably null |
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 |
|
R6566:Bcat1
|
UTSW |
6 |
144,961,210 (GRCm39) |
missense |
probably damaging |
1.00 |
|
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'- TTAAGACAGCAGGGCCTGTC -3'
(R):5'- CCCAGTGTTAAATTCTGTGCTGG -3'
Sequencing Primer
(F):5'- CTTGCAAGGCCAGAGAATCACG -3'
(R):5'- GGTGTGGTCGTGTCATCACC -3'
|
| Posted On |
2019-05-13 |
Incidental Mutation