Incidental Mutation 'R5679:Bcat1'
| ID |
442930 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Bcat1
|
| Ensembl Gene |
ENSMUSG00000030268 |
| Gene Name |
branched chain aminotransferase 1, cytosolic |
| Synonyms |
Eca39, BCATc, Bcat-1 |
| MMRRC Submission |
043176-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.080)
|
| Stock # |
R5679 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
6 |
| Chromosomal Location |
144939561-145021883 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 144953474 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Phenylalanine to Leucine
at position 304
(F304L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000039744
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000032402]
[ENSMUST00000048252]
[ENSMUST00000111742]
[ENSMUST00000204138]
|
| AlphaFold |
P24288 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000032402
AA Change: F371L
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000032402
Gene: ENSMUSG00000030268
AA Change: F371L
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Aminotran_4
|
160 |
410 |
1.3e-34 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000048252
AA Change: F304L
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000039744
Gene: ENSMUSG00000030268
AA Change: F304L
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Aminotran_4
|
111 |
354 |
5.9e-26 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000111742
AA Change: F304L
PolyPhen 2
Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000107371
Gene: ENSMUSG00000030268
AA Change: F304L
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Aminotran_4
|
111 |
354 |
1.7e-26 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000145911
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000204138
AA Change: F174L
PolyPhen 2
Score 0.346 (Sensitivity: 0.90; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000144968
Gene: ENSMUSG00000030268
AA Change: F174L
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Aminotran_4
|
34 |
180 |
9.1e-17 |
PFAM |
|
| Coding Region Coverage |
- 1x: 99.4%
- 3x: 98.8%
- 10x: 97.6%
- 20x: 96.2%
|
| 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: 36 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aldh3a1 |
G |
A |
11: 61,107,994 (GRCm39) |
R346Q |
probably benign |
Het |
| Ccdc178 |
T |
G |
18: 22,200,486 (GRCm39) |
K439N |
probably benign |
Het |
| Cdkn2a |
T |
C |
4: 89,195,098 (GRCm39) |
D84G |
possibly damaging |
Het |
| Chst8 |
T |
A |
7: 34,374,729 (GRCm39) |
H370L |
probably damaging |
Het |
| Dimt1 |
A |
G |
13: 107,084,108 (GRCm39) |
T32A |
possibly damaging |
Het |
| Dph6 |
T |
C |
2: 114,398,422 (GRCm39) |
I162V |
probably benign |
Het |
| E230025N22Rik |
C |
T |
18: 36,818,435 (GRCm39) |
G465R |
possibly damaging |
Het |
| Fam3d |
T |
C |
14: 8,349,305 (GRCm38) |
E215G |
probably damaging |
Het |
| Fbxw7 |
T |
A |
3: 84,884,794 (GRCm39) |
N612K |
probably damaging |
Het |
| Gpr179 |
A |
G |
11: 97,227,571 (GRCm39) |
V1528A |
probably benign |
Het |
| Gucy2g |
T |
A |
19: 55,219,511 (GRCm39) |
K370N |
possibly damaging |
Het |
| Ipo13 |
A |
T |
4: 117,752,029 (GRCm39) |
W903R |
probably damaging |
Het |
| Itgax |
T |
A |
7: 127,734,162 (GRCm39) |
H311Q |
probably benign |
Het |
| Kmt2d |
T |
C |
15: 98,752,153 (GRCm39) |
|
probably benign |
Het |
| Lox |
T |
C |
18: 52,661,989 (GRCm39) |
N138S |
probably benign |
Het |
| Mre11a |
T |
A |
9: 14,698,215 (GRCm39) |
I21N |
probably damaging |
Het |
| Ncan |
T |
G |
8: 70,565,276 (GRCm39) |
Y217S |
probably damaging |
Het |
| Nfil3 |
A |
G |
13: 53,122,527 (GRCm39) |
F126L |
possibly damaging |
Het |
| Nfu1 |
T |
C |
6: 86,996,379 (GRCm39) |
V110A |
probably damaging |
Het |
| Or12e8 |
T |
C |
2: 87,187,889 (GRCm39) |
F34L |
possibly damaging |
Het |
| Or5e1 |
A |
G |
7: 108,354,203 (GRCm39) |
I47V |
probably damaging |
Het |
| Or5g9 |
A |
T |
2: 85,552,390 (GRCm39) |
I214F |
probably damaging |
Het |
| Palld |
T |
C |
8: 62,137,979 (GRCm39) |
Q592R |
possibly damaging |
Het |
| Pcdhac1 |
T |
A |
18: 37,225,530 (GRCm39) |
L781Q |
probably damaging |
Het |
| Rcl1 |
A |
G |
19: 29,098,658 (GRCm39) |
|
probably null |
Het |
| Saxo1 |
C |
T |
4: 86,363,272 (GRCm39) |
V404I |
possibly damaging |
Het |
| Scrt1 |
T |
A |
15: 76,403,262 (GRCm39) |
T243S |
unknown |
Het |
| Slc22a30 |
G |
T |
19: 8,313,135 (GRCm39) |
T550K |
possibly damaging |
Het |
| Strc |
A |
G |
2: 121,198,581 (GRCm39) |
S1437P |
probably benign |
Het |
| Tecpr1 |
T |
A |
5: 144,144,241 (GRCm39) |
I654F |
possibly damaging |
Het |
| Tfcp2l1 |
A |
G |
1: 118,596,377 (GRCm39) |
M371V |
probably benign |
Het |
| Vmn2r11 |
T |
C |
5: 109,202,708 (GRCm39) |
N123S |
probably benign |
Het |
| Wdr81 |
T |
C |
11: 75,343,749 (GRCm39) |
D506G |
probably damaging |
Het |
| Xylt1 |
A |
G |
7: 117,242,877 (GRCm39) |
D640G |
probably damaging |
Het |
| Zfp148 |
T |
G |
16: 33,316,156 (GRCm39) |
M276R |
probably damaging |
Het |
| Zfp329 |
G |
A |
7: 12,543,958 (GRCm39) |
T522I |
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 |
|
R5414:Bcat1
|
UTSW |
6 |
144,961,173 (GRCm39) |
critical splice donor site |
probably null |
|
|
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'- TGTTTGAGCCAACCCAGGAC -3'
(R):5'- TGACACCATCCAAGTTCAGC -3'
Sequencing Primer
(F):5'- GTTCTCAGCCTGGATGATAAACGTC -3'
(R):5'- ATCCAAGTTCAGCCAGATCC -3'
|
| Posted On |
2016-11-09 |
Incidental Mutation