Incidental Mutation 'R4383:Baat'
| ID |
325403 |
| 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 |
| MMRRC Submission |
041123-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R4383 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
4 |
| Chromosomal Location |
49489422-49506557 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 49499731 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Alanine to Threonine
at position 192
(A192T)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000129603
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000043056]
[ENSMUST00000166036]
|
| AlphaFold |
Q91X34 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000043056
AA Change: A192T
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000041983
Gene: ENSMUSG00000039653
AA Change: A192T
| 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 damaging
Transcript: ENSMUST00000166036
AA Change: A192T
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000129603
Gene: ENSMUSG00000039653
AA Change: A192T
| 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 |
|
| Meta Mutation Damage Score |
0.4356 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 97.0%
- 20x: 94.5%
|
| Validation Efficiency |
89% (32/36) |
| 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: 26 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adam23 |
T |
C |
1: 63,605,787 (GRCm39) |
Y624H |
probably damaging |
Het |
| Arih2 |
T |
G |
9: 108,521,476 (GRCm39) |
M1L |
probably benign |
Het |
| Asic3 |
A |
G |
5: 24,618,932 (GRCm39) |
T75A |
probably damaging |
Het |
| Calr3 |
T |
A |
8: 73,182,008 (GRCm39) |
D120V |
probably damaging |
Het |
| Clca3a2 |
T |
C |
3: 144,512,081 (GRCm39) |
I552V |
probably benign |
Het |
| Cnot10 |
T |
A |
9: 114,460,949 (GRCm39) |
K74* |
probably null |
Het |
| Des |
T |
C |
1: 75,337,413 (GRCm39) |
F118L |
possibly damaging |
Het |
| Ermard |
T |
C |
17: 15,280,128 (GRCm39) |
S130P |
possibly damaging |
Het |
| Fbxl5 |
A |
G |
5: 43,920,305 (GRCm39) |
|
probably benign |
Het |
| Gad2 |
G |
A |
2: 22,575,422 (GRCm39) |
V509I |
probably benign |
Het |
| Inmt |
C |
A |
6: 55,148,203 (GRCm39) |
C142F |
probably damaging |
Het |
| Kcnh8 |
GAGACCAACGAGCAGCTGATGCTTCAGA |
GAGA |
17: 53,032,934 (GRCm39) |
74 |
probably benign |
Het |
| Kmt2c |
A |
T |
5: 25,556,060 (GRCm39) |
D1228E |
possibly damaging |
Het |
| Marf1 |
T |
A |
16: 13,960,505 (GRCm39) |
Y513F |
possibly damaging |
Het |
| Msh2 |
G |
A |
17: 87,996,566 (GRCm39) |
E425K |
probably benign |
Het |
| Or6n2 |
T |
C |
1: 173,897,043 (GRCm39) |
Y60H |
probably benign |
Het |
| Poc1b |
A |
G |
10: 98,992,161 (GRCm39) |
D326G |
probably damaging |
Het |
| Rbp3 |
G |
C |
14: 33,677,253 (GRCm39) |
E400D |
probably benign |
Het |
| Rsf1 |
A |
G |
7: 97,334,683 (GRCm39) |
K1272R |
possibly damaging |
Het |
| Sec24c |
G |
A |
14: 20,740,841 (GRCm39) |
V620M |
probably damaging |
Het |
| Trim3 |
C |
T |
7: 105,267,606 (GRCm39) |
A264T |
probably damaging |
Het |
| Ubr2 |
G |
C |
17: 47,250,313 (GRCm39) |
H1545D |
probably benign |
Het |
| Vps13a |
A |
T |
19: 16,678,529 (GRCm39) |
C1151S |
probably damaging |
Het |
| Zap70 |
C |
T |
1: 36,820,042 (GRCm39) |
R471W |
probably damaging |
Het |
| Zfp329 |
G |
A |
7: 12,545,584 (GRCm39) |
|
probably benign |
Het |
| Zfp606 |
A |
T |
7: 12,227,928 (GRCm39) |
Y625F |
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 |
|
R2992:Baat
|
UTSW |
4 |
49,499,675 (GRCm39) |
nonsense |
probably null |
|
|
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'- TTGGGCTGCAAACTGTAAGTCAT -3'
(R):5'- TAGGAGCTCACCTATCCTCCTG -3'
Sequencing Primer
(F):5'- gactctagagaacgctga -3'
(R):5'- TTTCTTCTCCAGGGACACGGAAG -3'
|
| Posted On |
2015-07-06 |
Incidental Mutation