Incidental Mutation 'IGL02394:Baat'
| ID |
293951 |
| 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 # |
IGL02394
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
4 |
| Chromosomal Location |
49489422-49506557 bp(-) (GRCm39) |
| Type of Mutation |
unclassified |
| DNA Base Change (assembly) |
A to T
at 49489812 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000129603
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000043056]
[ENSMUST00000166036]
|
| AlphaFold |
Q91X34 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000043056
|
| SMART Domains |
Protein: ENSMUSP00000041983
Gene: ENSMUSG00000039653
| 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
|
| SMART Domains |
Protein: ENSMUSP00000129603
Gene: ENSMUSG00000039653
| 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: 39 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Akt3 |
G |
A |
1: 176,886,985 (GRCm39) |
T288M |
probably damaging |
Het |
| Bclaf3 |
A |
G |
X: 158,338,485 (GRCm39) |
Y444C |
probably damaging |
Het |
| Bcs1l |
A |
G |
1: 74,629,459 (GRCm39) |
T166A |
probably damaging |
Het |
| Cep135 |
C |
T |
5: 76,779,318 (GRCm39) |
T776I |
probably benign |
Het |
| Clasrp |
A |
G |
7: 19,337,179 (GRCm39) |
L12P |
probably damaging |
Het |
| Csgalnact1 |
C |
A |
8: 68,854,144 (GRCm39) |
G219V |
probably damaging |
Het |
| Cyp4f15 |
A |
G |
17: 32,911,609 (GRCm39) |
I164V |
possibly damaging |
Het |
| Eps15 |
T |
A |
4: 109,170,162 (GRCm39) |
L155M |
probably damaging |
Het |
| Fbxl20 |
G |
A |
11: 98,004,082 (GRCm39) |
R69W |
probably damaging |
Het |
| Galnt9 |
A |
G |
5: 110,763,365 (GRCm39) |
M457V |
probably damaging |
Het |
| Gemin2 |
T |
A |
12: 59,060,842 (GRCm39) |
|
probably null |
Het |
| Gm20521 |
T |
A |
14: 55,135,499 (GRCm39) |
Y175N |
probably damaging |
Het |
| Gm3298 |
T |
A |
14: 5,018,778 (GRCm38) |
C178S |
probably benign |
Het |
| Gpr37l1 |
T |
C |
1: 135,094,746 (GRCm39) |
N166S |
probably damaging |
Het |
| Gpr45 |
A |
G |
1: 43,069,272 (GRCm39) |
|
probably benign |
Het |
| Gpr75 |
T |
C |
11: 30,842,190 (GRCm39) |
I365T |
possibly damaging |
Het |
| Gsdmc2 |
T |
C |
15: 63,707,729 (GRCm39) |
R22G |
probably damaging |
Het |
| Il23r |
T |
C |
6: 67,443,256 (GRCm39) |
|
probably benign |
Het |
| Itgam |
A |
T |
7: 127,684,114 (GRCm39) |
T340S |
probably benign |
Het |
| Klk1b24 |
A |
G |
7: 43,841,294 (GRCm39) |
D209G |
possibly damaging |
Het |
| Med13l |
A |
C |
5: 118,886,898 (GRCm39) |
T1600P |
probably benign |
Het |
| Muc16 |
G |
T |
9: 18,409,996 (GRCm39) |
H137Q |
probably damaging |
Het |
| Nin |
T |
C |
12: 70,090,805 (GRCm39) |
E870G |
probably damaging |
Het |
| Or12k7 |
A |
G |
2: 36,958,497 (GRCm39) |
Y60C |
probably damaging |
Het |
| Or5b120 |
A |
G |
19: 13,480,228 (GRCm39) |
N174D |
probably damaging |
Het |
| Or6c215 |
A |
T |
10: 129,638,182 (GRCm39) |
F71I |
possibly damaging |
Het |
| Pkhd1 |
T |
C |
1: 20,269,710 (GRCm39) |
K3278R |
possibly damaging |
Het |
| Prlr |
A |
G |
15: 10,328,664 (GRCm39) |
N380D |
probably benign |
Het |
| Rpgr |
A |
C |
X: 10,032,456 (GRCm39) |
S582R |
probably benign |
Het |
| Rph3a |
T |
C |
5: 121,084,411 (GRCm39) |
|
probably null |
Het |
| Setd5 |
A |
G |
6: 113,087,859 (GRCm39) |
H140R |
probably benign |
Het |
| Stoml3 |
C |
A |
3: 53,405,540 (GRCm39) |
|
probably benign |
Het |
| Teddm1a |
A |
C |
1: 153,767,545 (GRCm39) |
D3A |
probably benign |
Het |
| Tmem207 |
A |
G |
16: 26,335,586 (GRCm39) |
|
probably benign |
Het |
| Triml1 |
T |
A |
8: 43,591,629 (GRCm39) |
Q243L |
possibly damaging |
Het |
| Usp5 |
G |
A |
6: 124,799,672 (GRCm39) |
T274M |
probably damaging |
Het |
| Vav2 |
A |
G |
2: 27,187,671 (GRCm39) |
|
probably benign |
Het |
| Wdr5b |
A |
G |
16: 35,862,633 (GRCm39) |
N251D |
probably damaging |
Het |
| Wnk2 |
C |
A |
13: 49,235,375 (GRCm39) |
|
probably null |
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 |
|
IGL03267:Baat
|
APN |
4 |
49,490,050 (GRCm39) |
missense |
probably benign |
0.00 |
|
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 |
2015-04-16 |
Incidental Mutation