Incidental Mutation 'IGL01589:Slc10a7'
| ID |
91526 |
| 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 # |
IGL01589
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
8 |
| Chromosomal Location |
79235975-79460632 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 79456369 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Proline
at position 296
(S296P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000147659
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000034111]
[ENSMUST00000209490]
[ENSMUST00000209992]
[ENSMUST00000210515]
[ENSMUST00000210630]
[ENSMUST00000211286]
|
| AlphaFold |
Q5PT53 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000034111
AA Change: S324P
PolyPhen 2
Score 0.970 (Sensitivity: 0.77; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000034111
Gene: ENSMUSG00000031684
AA Change: S324P
| 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 damaging
Transcript: ENSMUST00000209490
AA Change: S282P
PolyPhen 2
Score 0.963 (Sensitivity: 0.78; Specificity: 0.95)
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000209992
AA Change: S296P
PolyPhen 2
Score 0.980 (Sensitivity: 0.75; Specificity: 0.96)
|
| 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 damaging
Transcript: ENSMUST00000211286
AA Change: S324P
PolyPhen 2
Score 0.970 (Sensitivity: 0.77; Specificity: 0.96)
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 30 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca9 |
A |
G |
11: 110,046,003 (GRCm39) |
F307S |
probably damaging |
Het |
| Abcc6 |
A |
T |
7: 45,652,096 (GRCm39) |
|
probably benign |
Het |
| Adamts12 |
T |
A |
15: 11,311,323 (GRCm39) |
D1193E |
probably benign |
Het |
| Akap6 |
T |
A |
12: 53,186,447 (GRCm39) |
L1287H |
probably damaging |
Het |
| Ascl3 |
A |
G |
7: 109,327,245 (GRCm39) |
S25P |
probably benign |
Het |
| Brd2 |
A |
G |
17: 34,336,016 (GRCm39) |
S66P |
probably damaging |
Het |
| Cacna1i |
C |
A |
15: 80,271,960 (GRCm39) |
|
probably benign |
Het |
| Cdc5l |
T |
C |
17: 45,715,602 (GRCm39) |
Y670C |
probably damaging |
Het |
| Clybl |
T |
A |
14: 122,608,834 (GRCm39) |
I142N |
probably damaging |
Het |
| Cyp2c66 |
T |
C |
19: 39,172,379 (GRCm39) |
|
probably null |
Het |
| Dck |
C |
T |
5: 88,922,095 (GRCm39) |
|
probably benign |
Het |
| Dsg1b |
T |
C |
18: 20,542,651 (GRCm39) |
Y1053H |
probably damaging |
Het |
| Gm9912 |
T |
C |
3: 148,890,986 (GRCm39) |
D49G |
unknown |
Het |
| Gpr107 |
T |
C |
2: 31,057,163 (GRCm39) |
|
probably benign |
Het |
| Hsd3b7 |
T |
C |
7: 127,402,036 (GRCm39) |
F227S |
probably damaging |
Het |
| Lrrtm2 |
T |
A |
18: 35,345,851 (GRCm39) |
N484Y |
probably damaging |
Het |
| Muc19 |
A |
T |
15: 91,754,699 (GRCm39) |
|
noncoding transcript |
Het |
| Nodal |
G |
A |
10: 61,254,176 (GRCm39) |
R33Q |
probably benign |
Het |
| Or1a1 |
T |
C |
11: 74,086,587 (GRCm39) |
L86P |
probably damaging |
Het |
| Plcb4 |
A |
G |
2: 135,809,038 (GRCm39) |
I569V |
probably benign |
Het |
| Plekhg1 |
T |
C |
10: 3,913,631 (GRCm39) |
Y1118H |
probably benign |
Het |
| Polr2a |
T |
G |
11: 69,632,020 (GRCm39) |
E1015D |
probably benign |
Het |
| Recql5 |
A |
G |
11: 115,785,495 (GRCm39) |
F667S |
probably damaging |
Het |
| Scube1 |
T |
C |
15: 83,496,754 (GRCm39) |
Y749C |
probably damaging |
Het |
| Serpinb1c |
C |
A |
13: 33,070,155 (GRCm39) |
V136F |
probably damaging |
Het |
| Slain2 |
T |
C |
5: 73,098,789 (GRCm39) |
|
probably benign |
Het |
| Sspo |
C |
T |
6: 48,428,112 (GRCm39) |
R320W |
probably damaging |
Het |
| Usp16 |
G |
A |
16: 87,276,071 (GRCm39) |
A469T |
probably benign |
Het |
| Vmn2r102 |
A |
T |
17: 19,899,066 (GRCm39) |
L469F |
probably benign |
Het |
| Zfp772 |
A |
G |
7: 7,208,523 (GRCm39) |
F107S |
possibly damaging |
Het |
|
| Other mutations in Slc10a7 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00802:Slc10a7
|
APN |
8 |
79,425,209 (GRCm39) |
splice site |
probably benign |
|
|
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 |
2013-12-09 |
Incidental Mutation