Incidental Mutation 'R2992:Baat'
ID |
257934 |
Institutional Source |
Beutler Lab
|
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 # |
R2992 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
4 |
Chromosomal Location |
49489422-49506557 bp(-) (GRCm39) |
Type of Mutation |
nonsense |
DNA Base Change (assembly) |
A to T
at 49499675 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Tyrosine to Stop codon
at position 210
(Y210*)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000129603
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000043056]
[ENSMUST00000166036]
|
AlphaFold |
Q91X34 |
Predicted Effect |
probably null
Transcript: ENSMUST00000043056
AA Change: Y210*
|
SMART Domains |
Protein: ENSMUSP00000041983 Gene: ENSMUSG00000039653 AA Change: Y210*
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 null
Transcript: ENSMUST00000166036
AA Change: Y210*
|
SMART Domains |
Protein: ENSMUSP00000129603 Gene: ENSMUSG00000039653 AA Change: Y210*
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 |
- 1x: 99.2%
- 3x: 98.7%
- 10x: 97.5%
- 20x: 95.6%
|
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: 17 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Atp4a |
G |
A |
7: 30,419,650 (GRCm39) |
R671Q |
probably benign |
Het |
Cdh15 |
G |
A |
8: 123,588,763 (GRCm39) |
R279Q |
probably damaging |
Het |
Cep295 |
T |
A |
9: 15,244,043 (GRCm39) |
K1471I |
probably damaging |
Het |
Cpne4 |
A |
T |
9: 104,899,564 (GRCm39) |
I416F |
probably damaging |
Het |
Cul7 |
C |
G |
17: 46,962,526 (GRCm39) |
D52E |
probably benign |
Het |
Isg20 |
C |
T |
7: 78,569,632 (GRCm39) |
A201V |
probably benign |
Het |
Kdm6b |
ACTGCTGCTGCTGCTGCTGCTGCTG |
ACTGCTGCTGCTGCTGCTGCTG |
11: 69,297,133 (GRCm39) |
|
probably benign |
Het |
Mmp16 |
G |
T |
4: 18,011,657 (GRCm39) |
G191C |
probably damaging |
Het |
Or51aa5 |
C |
T |
7: 103,166,977 (GRCm39) |
V205M |
probably damaging |
Het |
Or6c2b |
C |
A |
10: 128,947,404 (GRCm39) |
E297* |
probably null |
Het |
Or9m2 |
T |
C |
2: 87,821,121 (GRCm39) |
V222A |
probably benign |
Het |
Patl2 |
T |
C |
2: 121,956,235 (GRCm39) |
S210G |
probably damaging |
Het |
Plekha6 |
T |
C |
1: 133,222,396 (GRCm39) |
I994T |
probably damaging |
Het |
Rap1gap2 |
C |
A |
11: 74,298,148 (GRCm39) |
A491S |
possibly damaging |
Het |
Rhobtb2 |
A |
G |
14: 70,035,772 (GRCm39) |
S100P |
probably damaging |
Het |
Snx13 |
T |
C |
12: 35,155,190 (GRCm39) |
L418P |
probably damaging |
Het |
Spink5 |
A |
C |
18: 44,129,696 (GRCm39) |
E429A |
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 |
|
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 |
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 |
|
Predicted Primers |
PCR Primer
(F):5'- TCCCAGATTAAAGGTGTGGTG -3'
(R):5'- GCCAATTGGGGAACAGGGC -3'
Sequencing Primer
(F):5'- CAGCTACTACTGAACCATTGTTGGG -3'
(R):5'- GGAACAGGGCCTTAGCATC -3'
|
Posted On |
2015-01-11 |