Incidental Mutation 'IGL00466:Slc10a4'
| ID |
6423 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Slc10a4
|
| Ensembl Gene |
ENSMUSG00000029219 |
| Gene Name |
solute carrier family 10 (sodium/bile acid cotransporter family), member 4 |
| Synonyms |
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
IGL00466
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
5 |
| Chromosomal Location |
73164247-73170298 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 73169263 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Threonine
at position 296
(I296T)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000031127
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000031127]
[ENSMUST00000201304]
|
| AlphaFold |
Q3UEZ8 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000031127
AA Change: I296T
PolyPhen 2
Score 0.981 (Sensitivity: 0.75; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000031127
Gene: ENSMUSG00000029219
AA Change: I296T
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
6 |
21 |
N/A |
INTRINSIC |
|
low complexity region
|
42 |
55 |
N/A |
INTRINSIC |
|
low complexity region
|
59 |
74 |
N/A |
INTRINSIC |
|
Pfam:SBF
|
111 |
290 |
1e-37 |
PFAM |
|
transmembrane domain
|
360 |
382 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000121417
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000200747
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000201304
AA Change: I97T
PolyPhen 2
Score 0.940 (Sensitivity: 0.80; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000144062
Gene: ENSMUSG00000029219
AA Change: I97T
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:SBF
|
1 |
91 |
1.7e-8 |
PFAM |
|
transmembrane domain
|
101 |
123 |
N/A |
INTRINSIC |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
PHENOTYPE: Mice homozygous for a null allele exhibit seizures and increased susceptibility to pharmacologically induced seizures. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 21 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ablim1 |
C |
T |
19: 57,056,618 (GRCm39) |
A359T |
probably damaging |
Het |
| Atm |
A |
G |
9: 53,410,412 (GRCm39) |
|
probably benign |
Het |
| Ccdc59 |
G |
A |
10: 105,683,035 (GRCm39) |
S240N |
probably benign |
Het |
| Ccdc59 |
A |
T |
10: 105,683,034 (GRCm39) |
S240C |
probably benign |
Het |
| Chrm1 |
A |
T |
19: 8,655,438 (GRCm39) |
I48F |
probably benign |
Het |
| Col28a1 |
T |
C |
6: 8,022,081 (GRCm39) |
|
probably benign |
Het |
| Gys2 |
G |
A |
6: 142,409,016 (GRCm39) |
Q80* |
probably null |
Het |
| Hck |
A |
T |
2: 152,978,653 (GRCm39) |
T289S |
probably benign |
Het |
| Il1rapl2 |
A |
G |
X: 137,735,292 (GRCm39) |
D403G |
probably damaging |
Het |
| Kif16b |
A |
T |
2: 142,689,955 (GRCm39) |
L319* |
probably null |
Het |
| Kit |
T |
C |
5: 75,771,479 (GRCm39) |
I212T |
probably benign |
Het |
| Mroh5 |
G |
A |
15: 73,664,638 (GRCm39) |
|
probably benign |
Het |
| Muc6 |
T |
C |
7: 141,232,169 (GRCm39) |
Y986C |
possibly damaging |
Het |
| Nln |
A |
C |
13: 104,172,153 (GRCm39) |
V641G |
probably damaging |
Het |
| Nyap2 |
C |
A |
1: 81,169,695 (GRCm39) |
L151I |
probably damaging |
Het |
| Plce1 |
A |
G |
19: 38,709,473 (GRCm39) |
Y1109C |
probably damaging |
Het |
| Slc35c1 |
T |
A |
2: 92,284,703 (GRCm39) |
I304F |
probably benign |
Het |
| Stxbp2 |
C |
T |
8: 3,684,065 (GRCm39) |
A124V |
probably benign |
Het |
| Stxbp5 |
A |
G |
10: 9,675,694 (GRCm39) |
Y642H |
probably damaging |
Het |
| Tecta |
T |
C |
9: 42,243,844 (GRCm39) |
T2003A |
probably damaging |
Het |
| Zfp804a |
C |
A |
2: 81,884,219 (GRCm39) |
L29I |
probably benign |
Het |
|
| Other mutations in Slc10a4 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01121:Slc10a4
|
APN |
5 |
73,164,929 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL03324:Slc10a4
|
APN |
5 |
73,169,286 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1727:Slc10a4
|
UTSW |
5 |
73,173,491 (GRCm39) |
unclassified |
probably benign |
|
|
R1889:Slc10a4
|
UTSW |
5 |
73,169,490 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R2071:Slc10a4
|
UTSW |
5 |
73,164,840 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2091:Slc10a4
|
UTSW |
5 |
73,174,482 (GRCm39) |
unclassified |
probably benign |
|
|
R2137:Slc10a4
|
UTSW |
5 |
73,164,923 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2516:Slc10a4
|
UTSW |
5 |
73,165,848 (GRCm39) |
missense |
possibly damaging |
0.62 |
|
R4723:Slc10a4
|
UTSW |
5 |
73,169,398 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5728:Slc10a4
|
UTSW |
5 |
73,169,677 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5838:Slc10a4
|
UTSW |
5 |
73,169,373 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6175:Slc10a4
|
UTSW |
5 |
73,169,593 (GRCm39) |
missense |
possibly damaging |
0.60 |
|
R7375:Slc10a4
|
UTSW |
5 |
73,169,650 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7682:Slc10a4
|
UTSW |
5 |
73,164,453 (GRCm39) |
missense |
unknown |
|
|
R9769:Slc10a4
|
UTSW |
5 |
73,164,423 (GRCm39) |
missense |
unknown |
|
|
X0066:Slc10a4
|
UTSW |
5 |
73,165,848 (GRCm39) |
missense |
possibly damaging |
0.62 |
|
| Posted On |
2012-04-20 |
Incidental Mutation