Incidental Mutation 'IGL03267:Baat'
| ID |
415098 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Baat
|
| Ensembl Gene |
ENSMUSG00000039653 |
| Gene Name |
bile acid-Coenzyme A: amino acid N-acyltransferase |
| Synonyms |
taurine N-acyltransferase, BAT |
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
IGL03267
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
4 |
| Chromosomal Location |
49489422-49506557 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 49490050 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Methionine to Leucine
at position 345
(M345L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000129603
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000043056]
[ENSMUST00000166036]
|
| AlphaFold |
Q91X34 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000043056
AA Change: M345L
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
| SMART Domains |
Protein: ENSMUSP00000041983
Gene: ENSMUSG00000039653
AA Change: M345L
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Bile_Hydr_Trans
|
13 |
145 |
1.7e-44 |
PFAM |
|
low complexity region
|
149 |
162 |
N/A |
INTRINSIC |
|
Pfam:BAAT_C
|
206 |
414 |
8.1e-77 |
PFAM |
|
Pfam:DLH
|
285 |
412 |
5.5e-7 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000166036
AA Change: M345L
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
| SMART Domains |
Protein: ENSMUSP00000129603
Gene: ENSMUSG00000039653
AA Change: M345L
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Bile_Hydr_Trans
|
14 |
144 |
5.1e-45 |
PFAM |
|
low complexity region
|
149 |
162 |
N/A |
INTRINSIC |
|
Pfam:BAAT_C
|
206 |
414 |
1.2e-77 |
PFAM |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a liver enzyme that catalyzes the transfer of C24 bile acids from the acyl-CoA thioester to either glycine or taurine, the second step in the formation of bile acid-amino acid conjugates. The bile acid conjugates then act as a detergent in the gastrointestinal tract, which enhances lipid and fat-soluble vitamin absorption. Defects in this gene are a cause of familial hypercholanemia (FHCA). Two transcript variants encoding the same protein have been found for this gene. [provided by RefSeq, Jul 2008]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 37 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acad10 |
C |
T |
5: 121,775,412 (GRCm39) |
R430Q |
probably benign |
Het |
| Arfgef3 |
T |
A |
10: 18,467,630 (GRCm39) |
I1857F |
probably damaging |
Het |
| Babam1 |
T |
G |
8: 71,855,708 (GRCm39) |
|
probably null |
Het |
| Bbs7 |
A |
G |
3: 36,627,654 (GRCm39) |
F711S |
probably damaging |
Het |
| Btrc |
A |
G |
19: 45,507,262 (GRCm39) |
E458G |
probably damaging |
Het |
| Car6 |
T |
C |
4: 150,280,503 (GRCm39) |
|
probably benign |
Het |
| Celsr3 |
T |
C |
9: 108,713,724 (GRCm39) |
|
probably benign |
Het |
| Csn2 |
A |
G |
5: 87,845,930 (GRCm39) |
V3A |
possibly damaging |
Het |
| Ddc |
T |
C |
11: 11,826,303 (GRCm39) |
Y86C |
probably damaging |
Het |
| Dennd1b |
A |
T |
1: 138,990,599 (GRCm39) |
R188* |
probably null |
Het |
| Dnah1 |
C |
A |
14: 31,008,545 (GRCm39) |
A2046S |
probably benign |
Het |
| Duxf4 |
T |
C |
10: 58,071,609 (GRCm39) |
T202A |
probably damaging |
Het |
| Eif2b4 |
A |
T |
5: 31,350,003 (GRCm39) |
S20T |
possibly damaging |
Het |
| Etl4 |
T |
A |
2: 20,789,993 (GRCm39) |
C916* |
probably null |
Het |
| Fam78a |
T |
C |
2: 31,959,679 (GRCm39) |
I144V |
probably benign |
Het |
| Fcho1 |
A |
G |
8: 72,164,943 (GRCm39) |
|
probably benign |
Het |
| Il9r |
T |
A |
11: 32,141,778 (GRCm39) |
H320L |
possibly damaging |
Het |
| Kntc1 |
C |
T |
5: 123,896,543 (GRCm39) |
T135M |
probably damaging |
Het |
| Lca5l |
T |
A |
16: 95,960,983 (GRCm39) |
Q498L |
probably benign |
Het |
| Map4k3 |
T |
C |
17: 80,971,457 (GRCm39) |
H70R |
probably damaging |
Het |
| Mrps26 |
A |
G |
2: 130,406,856 (GRCm39) |
|
probably null |
Het |
| Or1j20 |
G |
T |
2: 36,760,513 (GRCm39) |
A312S |
probably benign |
Het |
| Or4k5 |
A |
G |
14: 50,386,304 (GRCm39) |
V9A |
probably damaging |
Het |
| Or8j3b |
A |
T |
2: 86,204,978 (GRCm39) |
Y259* |
probably null |
Het |
| Pik3cg |
C |
A |
12: 32,255,307 (GRCm39) |
G227C |
possibly damaging |
Het |
| Ptprn2 |
C |
T |
12: 116,839,964 (GRCm39) |
Q496* |
probably null |
Het |
| Rif1 |
T |
G |
2: 51,967,000 (GRCm39) |
N96K |
possibly damaging |
Het |
| Rreb1 |
A |
C |
13: 38,116,169 (GRCm39) |
D1176A |
probably benign |
Het |
| Slc22a30 |
A |
G |
19: 8,315,322 (GRCm39) |
I436T |
probably benign |
Het |
| Slc51a |
G |
A |
16: 32,297,568 (GRCm39) |
R110C |
probably damaging |
Het |
| Spata31e5 |
G |
A |
1: 28,816,202 (GRCm39) |
T610I |
probably damaging |
Het |
| Stab1 |
A |
G |
14: 30,864,686 (GRCm39) |
C1950R |
probably damaging |
Het |
| Tns2 |
T |
C |
15: 102,013,813 (GRCm39) |
|
probably null |
Het |
| Ttf2 |
G |
A |
3: 100,852,120 (GRCm39) |
R1009* |
probably null |
Het |
| Wfdc16 |
A |
G |
2: 164,480,462 (GRCm39) |
V11A |
possibly damaging |
Het |
| Zfp367 |
A |
G |
13: 64,292,097 (GRCm39) |
|
probably benign |
Het |
| Zfp420 |
G |
A |
7: 29,574,908 (GRCm39) |
R376H |
probably damaging |
Het |
|
| Other mutations in Baat |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00838:Baat
|
APN |
4 |
49,490,352 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01124:Baat
|
APN |
4 |
49,490,391 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
IGL01327:Baat
|
APN |
4 |
49,490,338 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02394:Baat
|
APN |
4 |
49,489,812 (GRCm39) |
unclassified |
probably benign |
|
|
R0085:Baat
|
UTSW |
4 |
49,490,425 (GRCm39) |
splice site |
probably benign |
|
|
R1467:Baat
|
UTSW |
4 |
49,503,101 (GRCm39) |
missense |
probably benign |
|
|
R1467:Baat
|
UTSW |
4 |
49,503,101 (GRCm39) |
missense |
probably benign |
|
|
R1720:Baat
|
UTSW |
4 |
49,490,231 (GRCm39) |
missense |
probably benign |
|
|
R2309:Baat
|
UTSW |
4 |
49,499,718 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2992:Baat
|
UTSW |
4 |
49,499,675 (GRCm39) |
nonsense |
probably null |
|
|
R4383:Baat
|
UTSW |
4 |
49,499,731 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4602:Baat
|
UTSW |
4 |
49,502,727 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5190:Baat
|
UTSW |
4 |
49,499,652 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5259:Baat
|
UTSW |
4 |
49,490,070 (GRCm39) |
missense |
probably benign |
0.08 |
|
R5456:Baat
|
UTSW |
4 |
49,502,949 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R5988:Baat
|
UTSW |
4 |
49,502,871 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6265:Baat
|
UTSW |
4 |
49,502,836 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R7091:Baat
|
UTSW |
4 |
49,499,692 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7209:Baat
|
UTSW |
4 |
49,503,065 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7295:Baat
|
UTSW |
4 |
49,490,275 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7325:Baat
|
UTSW |
4 |
49,490,213 (GRCm39) |
missense |
probably benign |
0.07 |
|
R7805:Baat
|
UTSW |
4 |
49,490,327 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7867:Baat
|
UTSW |
4 |
49,502,925 (GRCm39) |
missense |
probably benign |
0.44 |
|
R7956:Baat
|
UTSW |
4 |
49,490,117 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9367:Baat
|
UTSW |
4 |
49,503,008 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Posted On |
2016-08-02 |
Incidental Mutation