Incidental Mutation 'IGL01124:Baat'
ID |
50945 |
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 # |
IGL01124
|
Quality Score |
|
Status
|
|
Chromosome |
4 |
Chromosomal Location |
49489422-49506557 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 49490391 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Isoleucine to Threonine
at position 231
(I231T)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000129603
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000043056]
[ENSMUST00000166036]
|
AlphaFold |
Q91X34 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000043056
AA Change: I231T
PolyPhen 2
Score 0.820 (Sensitivity: 0.84; Specificity: 0.93)
|
SMART Domains |
Protein: ENSMUSP00000041983 Gene: ENSMUSG00000039653 AA Change: I231T
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 |
possibly damaging
Transcript: ENSMUST00000166036
AA Change: I231T
PolyPhen 2
Score 0.820 (Sensitivity: 0.84; Specificity: 0.93)
|
SMART Domains |
Protein: ENSMUSP00000129603 Gene: ENSMUSG00000039653 AA Change: I231T
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: 42 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Ascc3 |
T |
C |
10: 50,608,569 (GRCm39) |
I1477T |
probably damaging |
Het |
Cactin |
T |
C |
10: 81,160,184 (GRCm39) |
S426P |
possibly damaging |
Het |
Cfh |
A |
T |
1: 140,110,999 (GRCm39) |
F6I |
probably benign |
Het |
Clec4a2 |
C |
T |
6: 123,116,037 (GRCm39) |
|
probably benign |
Het |
Col12a1 |
A |
G |
9: 79,611,129 (GRCm39) |
S148P |
probably damaging |
Het |
Cubn |
G |
T |
2: 13,482,904 (GRCm39) |
Q281K |
possibly damaging |
Het |
Cyp2c65 |
T |
A |
19: 39,081,954 (GRCm39) |
|
probably benign |
Het |
Dennd4b |
A |
T |
3: 90,176,381 (GRCm39) |
T243S |
possibly damaging |
Het |
Epha8 |
C |
T |
4: 136,663,394 (GRCm39) |
G518D |
probably damaging |
Het |
Fmo3 |
G |
A |
1: 162,785,830 (GRCm39) |
R387C |
probably damaging |
Het |
Foxo6 |
T |
C |
4: 120,126,349 (GRCm39) |
T149A |
probably benign |
Het |
Fthl17d |
T |
C |
X: 8,852,827 (GRCm39) |
E3G |
probably benign |
Het |
Gm10521 |
A |
G |
1: 171,724,010 (GRCm39) |
Y107C |
unknown |
Het |
Ipo8 |
T |
A |
6: 148,678,874 (GRCm39) |
E908V |
probably benign |
Het |
Kcnd2 |
T |
C |
6: 21,217,216 (GRCm39) |
S307P |
probably damaging |
Het |
Klf3 |
A |
G |
5: 64,974,123 (GRCm39) |
M3V |
possibly damaging |
Het |
Ldb3 |
T |
A |
14: 34,266,157 (GRCm39) |
E417D |
probably damaging |
Het |
Lrch1 |
A |
T |
14: 74,994,503 (GRCm39) |
D673E |
probably benign |
Het |
Map3k4 |
T |
C |
17: 12,474,087 (GRCm39) |
K865E |
probably benign |
Het |
Muc4 |
G |
A |
16: 32,589,104 (GRCm39) |
V754I |
possibly damaging |
Het |
Nek4 |
A |
G |
14: 30,692,219 (GRCm39) |
N223D |
probably benign |
Het |
Nell2 |
G |
A |
15: 95,194,060 (GRCm39) |
T551M |
probably damaging |
Het |
Nup155 |
T |
A |
15: 8,183,163 (GRCm39) |
M1241K |
probably damaging |
Het |
Or2t49 |
A |
T |
11: 58,393,020 (GRCm39) |
S121T |
possibly damaging |
Het |
Or5i1 |
T |
C |
2: 87,613,720 (GRCm39) |
F279L |
probably benign |
Het |
Orc1 |
T |
C |
4: 108,445,984 (GRCm39) |
|
probably benign |
Het |
Pclo |
T |
C |
5: 14,764,343 (GRCm39) |
I4272T |
unknown |
Het |
Ppp1r12c |
A |
G |
7: 4,500,344 (GRCm39) |
|
probably benign |
Het |
Prcp |
A |
G |
7: 92,559,416 (GRCm39) |
E160G |
probably benign |
Het |
Prl3d3 |
G |
A |
13: 27,343,090 (GRCm39) |
R92Q |
possibly damaging |
Het |
Prl6a1 |
T |
A |
13: 27,500,347 (GRCm39) |
M106K |
possibly damaging |
Het |
Slc22a1 |
T |
A |
17: 12,869,749 (GRCm39) |
|
probably benign |
Het |
Slco3a1 |
A |
G |
7: 73,934,295 (GRCm39) |
Y626H |
probably damaging |
Het |
Smtn |
A |
G |
11: 3,476,326 (GRCm39) |
|
probably null |
Het |
Snx30 |
T |
C |
4: 59,886,404 (GRCm39) |
|
probably benign |
Het |
Spock2 |
A |
G |
10: 59,967,209 (GRCm39) |
D393G |
unknown |
Het |
Trem3 |
T |
G |
17: 48,556,829 (GRCm39) |
L100R |
probably damaging |
Het |
Trpm2 |
A |
T |
10: 77,781,659 (GRCm39) |
|
probably benign |
Het |
Ubr1 |
T |
C |
2: 120,745,386 (GRCm39) |
M901V |
probably benign |
Het |
Usp28 |
T |
A |
9: 48,948,513 (GRCm39) |
S873T |
probably damaging |
Het |
Vmn1r86 |
T |
C |
7: 12,836,856 (GRCm39) |
I7V |
probably benign |
Het |
Xirp2 |
T |
C |
2: 67,338,959 (GRCm39) |
L400P |
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 |
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 |
|
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 |
2013-06-21 |