Incidental Mutation 'IGL02205:Slc10a7'
| ID |
284431 |
| 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 # |
IGL02205
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
8 |
| Chromosomal Location |
79235975-79460632 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to T
at 79423932 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Lysine to Asparagine
at position 203
(K203N)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000147659
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000034111]
[ENSMUST00000209490]
[ENSMUST00000209992]
[ENSMUST00000210515]
[ENSMUST00000210630]
[ENSMUST00000211286]
|
| AlphaFold |
Q5PT53 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000034111
AA Change: K231N
PolyPhen 2
Score 0.026 (Sensitivity: 0.95; Specificity: 0.81)
|
| SMART Domains |
Protein: ENSMUSP00000034111
Gene: ENSMUSG00000031684
AA Change: K231N
| 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
AA Change: K231N
PolyPhen 2
Score 0.026 (Sensitivity: 0.95; Specificity: 0.81)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000209992
AA Change: K203N
PolyPhen 2
Score 0.039 (Sensitivity: 0.94; Specificity: 0.83)
|
| 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
AA Change: K231N
PolyPhen 2
Score 0.026 (Sensitivity: 0.95; Specificity: 0.81)
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000211332
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 34 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Afmid |
T |
G |
11: 117,725,982 (GRCm39) |
L150R |
probably damaging |
Het |
| Ankrd27 |
T |
G |
7: 35,316,364 (GRCm39) |
D543E |
probably damaging |
Het |
| Anks1b |
T |
G |
10: 89,906,956 (GRCm39) |
L258V |
probably benign |
Het |
| Cacna1i |
T |
C |
15: 80,257,152 (GRCm39) |
F1087S |
probably benign |
Het |
| Chd2 |
A |
T |
7: 73,091,465 (GRCm39) |
I1592K |
probably benign |
Het |
| Cmip |
G |
A |
8: 118,181,714 (GRCm39) |
V674I |
probably damaging |
Het |
| Col4a2 |
C |
T |
8: 11,481,305 (GRCm39) |
Q826* |
probably null |
Het |
| Ctdsp1 |
C |
T |
1: 74,432,993 (GRCm39) |
A92V |
possibly damaging |
Het |
| Dnajc10 |
T |
A |
2: 80,179,702 (GRCm39) |
S745R |
possibly damaging |
Het |
| Dpp4 |
T |
C |
2: 62,182,601 (GRCm39) |
Y560C |
probably damaging |
Het |
| Fbxl6 |
A |
G |
15: 76,421,541 (GRCm39) |
M232T |
probably benign |
Het |
| Gm5414 |
A |
G |
15: 101,534,304 (GRCm39) |
F267L |
probably benign |
Het |
| Heatr5a |
A |
G |
12: 51,924,120 (GRCm39) |
I2031T |
probably damaging |
Het |
| Hmcn2 |
T |
G |
2: 31,290,139 (GRCm39) |
V2324G |
probably damaging |
Het |
| Hnmt |
A |
T |
2: 23,909,157 (GRCm39) |
N85K |
probably damaging |
Het |
| Kcng4 |
G |
T |
8: 120,352,822 (GRCm39) |
R363S |
probably damaging |
Het |
| Kif18a |
T |
C |
2: 109,137,363 (GRCm39) |
|
probably benign |
Het |
| Lrrc8b |
A |
T |
5: 105,629,703 (GRCm39) |
Y683F |
probably benign |
Het |
| Mepce |
G |
T |
5: 137,782,757 (GRCm39) |
T523K |
probably benign |
Het |
| Mroh1 |
T |
C |
15: 76,321,439 (GRCm39) |
V1040A |
possibly damaging |
Het |
| Myof |
A |
G |
19: 37,913,083 (GRCm39) |
Y1470H |
probably damaging |
Het |
| Or5p50 |
A |
G |
7: 107,421,798 (GRCm39) |
Y293H |
probably damaging |
Het |
| Otol1 |
T |
C |
3: 69,925,929 (GRCm39) |
S35P |
probably benign |
Het |
| P4htm |
T |
C |
9: 108,459,161 (GRCm39) |
D257G |
probably benign |
Het |
| Pcdhb15 |
A |
G |
18: 37,607,010 (GRCm39) |
T81A |
probably damaging |
Het |
| Polg2 |
T |
C |
11: 106,669,946 (GRCm39) |
E108G |
probably benign |
Het |
| Rfx7 |
T |
A |
9: 72,514,932 (GRCm39) |
H143Q |
probably damaging |
Het |
| Sf3b2 |
A |
G |
19: 5,333,765 (GRCm39) |
V611A |
probably benign |
Het |
| Slc12a5 |
T |
A |
2: 164,838,399 (GRCm39) |
V1046D |
probably benign |
Het |
| Tacc2 |
A |
T |
7: 130,228,412 (GRCm39) |
D1718V |
probably damaging |
Het |
| Unc79 |
T |
A |
12: 103,045,260 (GRCm39) |
I812N |
probably damaging |
Het |
| Vps13c |
A |
G |
9: 67,790,736 (GRCm39) |
Y338C |
probably damaging |
Het |
| Wdr17 |
T |
C |
8: 55,149,335 (GRCm39) |
Y31C |
probably damaging |
Het |
| Zfp654 |
A |
T |
16: 64,606,329 (GRCm39) |
N624K |
probably 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 |
|
|
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 |
|
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 |
2015-04-16 |
Incidental Mutation