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 |