Incidental Mutation 'IGL00802:Slc10a7'
| ID |
14035 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Slc10a7
|
| Ensembl Gene |
ENSMUSG00000031684 |
| Gene Name |
solute carrier family 10 (sodium/bile acid cotransporter family), member 7 |
| Synonyms |
2410193C02Rik |
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.878)
|
| Stock # |
IGL00802
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
8 |
| Chromosomal Location |
79235975-79460632 bp(+) (GRCm39) |
| Type of Mutation |
splice site |
| DNA Base Change (assembly) |
T to C
at 79425209 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000147724
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000034111]
[ENSMUST00000209490]
[ENSMUST00000209992]
[ENSMUST00000210515]
[ENSMUST00000210630]
[ENSMUST00000211286]
|
| AlphaFold |
Q5PT53 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000034111
|
| SMART Domains |
Protein: ENSMUSP00000034111
Gene: ENSMUSG00000031684
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:SBF_like
|
10 |
324 |
1.9e-82 |
PFAM |
|
Pfam:SBF
|
44 |
224 |
2.9e-17 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000209490
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000209992
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000210132
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000210515
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000210630
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000210703
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000211286
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000211332
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 9 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca13 |
A |
G |
11: 9,247,717 (GRCm39) |
D2488G |
probably damaging |
Het |
| Atp2b2 |
T |
A |
6: 113,782,476 (GRCm39) |
I285L |
possibly damaging |
Het |
| Dsc2 |
G |
A |
18: 20,174,854 (GRCm39) |
P474S |
probably benign |
Het |
| Hmcn1 |
T |
G |
1: 150,540,687 (GRCm39) |
N2874T |
probably benign |
Het |
| Kcnh5 |
A |
T |
12: 75,054,399 (GRCm39) |
M515K |
possibly damaging |
Het |
| Patj |
A |
G |
4: 98,312,643 (GRCm39) |
D327G |
possibly damaging |
Het |
| Tap2 |
G |
A |
17: 34,428,104 (GRCm39) |
M259I |
probably damaging |
Het |
| Tbcd |
A |
G |
11: 121,499,436 (GRCm39) |
E1080G |
possibly damaging |
Het |
| Trim45 |
T |
A |
3: 100,839,042 (GRCm39) |
|
probably benign |
Het |
|
| Other mutations in Slc10a7 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01589:Slc10a7
|
APN |
8 |
79,456,369 (GRCm39) |
missense |
probably damaging |
0.98 |
|
IGL01868:Slc10a7
|
APN |
8 |
79,423,965 (GRCm39) |
splice site |
probably null |
|
|
IGL02197:Slc10a7
|
APN |
8 |
79,242,292 (GRCm39) |
missense |
probably damaging |
0.98 |
|
IGL02205:Slc10a7
|
APN |
8 |
79,423,932 (GRCm39) |
missense |
probably benign |
0.04 |
|
IGL03128:Slc10a7
|
APN |
8 |
79,251,846 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0123:Slc10a7
|
UTSW |
8 |
79,423,787 (GRCm39) |
splice site |
probably null |
|
|
R0134:Slc10a7
|
UTSW |
8 |
79,423,787 (GRCm39) |
splice site |
probably null |
|
|
R1973:Slc10a7
|
UTSW |
8 |
79,423,962 (GRCm39) |
critical splice donor site |
probably null |
|
|
R2266:Slc10a7
|
UTSW |
8 |
79,236,264 (GRCm39) |
missense |
probably benign |
0.02 |
|
R2362:Slc10a7
|
UTSW |
8 |
79,236,261 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4756:Slc10a7
|
UTSW |
8 |
79,433,579 (GRCm39) |
critical splice donor site |
probably null |
|
|
R5454:Slc10a7
|
UTSW |
8 |
79,413,253 (GRCm39) |
missense |
possibly damaging |
0.71 |
|
R5753:Slc10a7
|
UTSW |
8 |
79,251,928 (GRCm39) |
critical splice donor site |
probably null |
|
|
R6621:Slc10a7
|
UTSW |
8 |
79,242,263 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7814:Slc10a7
|
UTSW |
8 |
79,425,202 (GRCm39) |
critical splice donor site |
probably null |
|
|
R7977:Slc10a7
|
UTSW |
8 |
79,423,843 (GRCm39) |
missense |
probably benign |
0.13 |
|
R7987:Slc10a7
|
UTSW |
8 |
79,423,843 (GRCm39) |
missense |
probably benign |
0.13 |
|
R9141:Slc10a7
|
UTSW |
8 |
79,236,241 (GRCm39) |
missense |
probably benign |
0.12 |
|
R9586:Slc10a7
|
UTSW |
8 |
79,456,266 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9684:Slc10a7
|
UTSW |
8 |
79,456,304 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
| Posted On |
2012-12-06 |
Incidental Mutation