Incidental Mutation 'IGL03324:Slc10a4'
| ID |
416575 |
| 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 # |
IGL03324
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
5 |
| Chromosomal Location |
73164247-73170298 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to T
at 73169286 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Alanine to Serine
at position 105
(A105S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000144062
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000031127]
[ENSMUST00000201304]
|
| AlphaFold |
Q3UEZ8 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000031127
AA Change: A304S
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000031127
Gene: ENSMUSG00000029219
AA Change: A304S
| 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 |
probably damaging
Transcript: ENSMUST00000201304
AA Change: A105S
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000144062
Gene: ENSMUSG00000029219
AA Change: A105S
| 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: 30 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700018F24Rik |
A |
G |
5: 144,982,261 (GRCm39) |
E282G |
probably benign |
Het |
| Abca12 |
T |
A |
1: 71,353,167 (GRCm39) |
K758N |
probably benign |
Het |
| Acacb |
A |
T |
5: 114,363,915 (GRCm39) |
R1459* |
probably null |
Het |
| Aco1 |
A |
G |
4: 40,186,363 (GRCm39) |
T592A |
probably benign |
Het |
| Aldh2 |
C |
T |
5: 121,713,188 (GRCm39) |
G256D |
probably benign |
Het |
| Apbb2 |
A |
T |
5: 66,469,500 (GRCm39) |
|
probably null |
Het |
| Apoe |
A |
T |
7: 19,430,462 (GRCm39) |
I260K |
probably benign |
Het |
| Cep89 |
G |
A |
7: 35,124,078 (GRCm39) |
|
probably benign |
Het |
| Coq3 |
A |
G |
4: 21,900,361 (GRCm39) |
D196G |
probably benign |
Het |
| Crispld2 |
C |
T |
8: 120,742,110 (GRCm39) |
R153W |
probably damaging |
Het |
| Enox1 |
A |
G |
14: 77,852,925 (GRCm39) |
E397G |
probably damaging |
Het |
| Gpatch1 |
A |
G |
7: 34,998,705 (GRCm39) |
Y342H |
probably damaging |
Het |
| Gpatch1 |
T |
A |
7: 34,993,120 (GRCm39) |
E575V |
possibly damaging |
Het |
| Grid2 |
T |
C |
6: 64,406,806 (GRCm39) |
V722A |
possibly damaging |
Het |
| Hsh2d |
T |
C |
8: 72,947,356 (GRCm39) |
F18L |
probably damaging |
Het |
| Htra2 |
C |
T |
6: 83,030,737 (GRCm39) |
D190N |
probably damaging |
Het |
| Lrfn2 |
A |
G |
17: 49,377,915 (GRCm39) |
N332S |
probably damaging |
Het |
| Naa10 |
C |
T |
X: 72,963,568 (GRCm39) |
|
probably null |
Het |
| Nlrp4f |
T |
C |
13: 65,343,042 (GRCm39) |
E179G |
possibly damaging |
Het |
| Or13p10 |
T |
A |
4: 118,523,069 (GRCm39) |
F118L |
probably benign |
Het |
| Or14j1 |
G |
A |
17: 38,146,165 (GRCm39) |
G92S |
probably benign |
Het |
| Or4c111 |
A |
T |
2: 88,843,903 (GRCm39) |
C168* |
probably null |
Het |
| Prss46 |
T |
A |
9: 110,678,747 (GRCm39) |
N46K |
probably benign |
Het |
| Rep15 |
A |
C |
6: 146,934,163 (GRCm39) |
M1L |
possibly damaging |
Het |
| Slc26a9 |
A |
T |
1: 131,691,748 (GRCm39) |
T664S |
probably damaging |
Het |
| Stxbp3-ps |
A |
T |
19: 9,535,714 (GRCm39) |
|
noncoding transcript |
Het |
| Tmf1 |
C |
A |
6: 97,140,614 (GRCm39) |
R754L |
probably damaging |
Het |
| Xcr1 |
T |
A |
9: 123,685,549 (GRCm39) |
Y71F |
probably benign |
Het |
| Yars1 |
C |
T |
4: 129,104,328 (GRCm39) |
T324I |
probably benign |
Het |
| Zfp106 |
A |
G |
2: 120,365,868 (GRCm39) |
S180P |
probably benign |
Het |
|
| Other mutations in Slc10a4 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00466:Slc10a4
|
APN |
5 |
73,169,263 (GRCm39) |
missense |
probably damaging |
0.98 |
|
IGL01121:Slc10a4
|
APN |
5 |
73,164,929 (GRCm39) |
missense |
probably damaging |
0.99 |
|
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 |
2016-08-02 |
Incidental Mutation