Incidental Mutation 'IGL03279:Slco6d1'
| ID |
415522 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Slco6d1
|
| Ensembl Gene |
ENSMUSG00000026336 |
| Gene Name |
solute carrier organic anion transporter family, member 6d1 |
| Synonyms |
4921511I05Rik |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.052)
|
| Stock # |
IGL03279
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
1 |
| Chromosomal Location |
98348849-98444716 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 98394405 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Glutamic Acid
at position 363
(V363E)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000123850
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000027575]
[ENSMUST00000160796]
[ENSMUST00000162468]
|
| AlphaFold |
Q9D5W6 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000027575
AA Change: V363E
PolyPhen 2
Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000027575
Gene: ENSMUSG00000026336
AA Change: V363E
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:MFS_1
|
86 |
463 |
1.8e-13 |
PFAM |
|
KAZAL
|
483 |
527 |
2.3e0 |
SMART |
|
low complexity region
|
558 |
572 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000160796
AA Change: V363E
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000123850
Gene: ENSMUSG00000026336
AA Change: V363E
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:MFS_1
|
86 |
463 |
2.4e-13 |
PFAM |
|
KAZAL
|
483 |
527 |
2.3e0 |
SMART |
|
low complexity region
|
558 |
572 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000162468
|
| SMART Domains |
Protein: ENSMUSP00000125258
Gene: ENSMUSG00000026336
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:OATP
|
64 |
313 |
2.1e-27 |
PFAM |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 33 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aatk |
T |
A |
11: 119,904,504 (GRCm39) |
D224V |
probably damaging |
Het |
| Abca4 |
C |
A |
3: 121,935,381 (GRCm39) |
N1526K |
probably benign |
Het |
| Aif1 |
T |
A |
17: 35,390,523 (GRCm39) |
K76* |
probably null |
Het |
| Arap2 |
A |
G |
5: 62,779,253 (GRCm39) |
S1446P |
probably damaging |
Het |
| Cyb5rl |
A |
T |
4: 106,941,325 (GRCm39) |
E250V |
possibly damaging |
Het |
| Dock3 |
T |
C |
9: 106,788,447 (GRCm39) |
|
probably benign |
Het |
| Dppa2 |
A |
G |
16: 48,132,028 (GRCm39) |
T42A |
possibly damaging |
Het |
| Drosha |
C |
T |
15: 12,859,478 (GRCm39) |
P562L |
probably benign |
Het |
| Egfl7 |
C |
A |
2: 26,480,719 (GRCm39) |
H126N |
probably benign |
Het |
| Gm5852 |
T |
C |
3: 93,634,584 (GRCm39) |
|
noncoding transcript |
Het |
| Gpr161 |
T |
C |
1: 165,138,098 (GRCm39) |
F228S |
probably damaging |
Het |
| Grid1 |
T |
A |
14: 34,667,722 (GRCm39) |
M83K |
probably damaging |
Het |
| Gsdma2 |
T |
C |
11: 98,548,549 (GRCm39) |
S434P |
unknown |
Het |
| Hao2 |
T |
A |
3: 98,787,712 (GRCm39) |
N239I |
possibly damaging |
Het |
| Hsd17b14 |
A |
T |
7: 45,215,617 (GRCm39) |
I206F |
possibly damaging |
Het |
| Kansl1l |
A |
T |
1: 66,774,825 (GRCm39) |
V667E |
probably damaging |
Het |
| Kdm3a |
T |
C |
6: 71,588,659 (GRCm39) |
D450G |
probably benign |
Het |
| Lmo7 |
C |
A |
14: 102,137,944 (GRCm39) |
A882E |
probably benign |
Het |
| P4ha3 |
A |
G |
7: 99,949,893 (GRCm39) |
Y254C |
probably damaging |
Het |
| Pcdh15 |
A |
G |
10: 74,152,904 (GRCm39) |
Y408C |
probably damaging |
Het |
| Pglyrp3 |
T |
C |
3: 91,933,834 (GRCm39) |
Y160H |
probably damaging |
Het |
| Pnma5 |
G |
A |
X: 72,079,605 (GRCm39) |
T359I |
probably benign |
Het |
| Ptbp3 |
A |
T |
4: 59,476,937 (GRCm39) |
H440Q |
possibly damaging |
Het |
| Rbx1 |
A |
G |
15: 81,352,399 (GRCm39) |
N41S |
probably damaging |
Het |
| Rpl3 |
G |
A |
15: 79,962,560 (GRCm39) |
T340I |
probably benign |
Het |
| Scrn1 |
G |
A |
6: 54,525,322 (GRCm39) |
R16* |
probably null |
Het |
| Sema6a |
A |
T |
18: 47,433,157 (GRCm39) |
C91* |
probably null |
Het |
| Stk38 |
A |
G |
17: 29,203,179 (GRCm39) |
|
probably benign |
Het |
| Tanc2 |
G |
A |
11: 105,803,918 (GRCm39) |
|
probably null |
Het |
| Thada |
A |
G |
17: 84,742,988 (GRCm39) |
F812S |
probably benign |
Het |
| Tubb4b-ps1 |
A |
G |
5: 7,229,630 (GRCm39) |
|
probably benign |
Het |
| Veph1 |
T |
C |
3: 66,162,443 (GRCm39) |
T72A |
probably damaging |
Het |
| Vps52 |
T |
A |
17: 34,176,848 (GRCm39) |
D67E |
probably damaging |
Het |
|
| Other mutations in Slco6d1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00420:Slco6d1
|
APN |
1 |
98,359,955 (GRCm39) |
splice site |
probably null |
|
|
IGL00678:Slco6d1
|
APN |
1 |
98,424,069 (GRCm39) |
missense |
probably benign |
0.01 |
|
IGL00790:Slco6d1
|
APN |
1 |
98,348,925 (GRCm39) |
utr 5 prime |
probably benign |
|
|
IGL01694:Slco6d1
|
APN |
1 |
98,427,570 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02003:Slco6d1
|
APN |
1 |
98,408,493 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02059:Slco6d1
|
APN |
1 |
98,374,531 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
IGL02085:Slco6d1
|
APN |
1 |
98,371,468 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02683:Slco6d1
|
APN |
1 |
98,408,397 (GRCm39) |
missense |
probably benign |
0.05 |
|
IGL02736:Slco6d1
|
APN |
1 |
98,356,036 (GRCm39) |
missense |
possibly damaging |
0.55 |
|
BB008:Slco6d1
|
UTSW |
1 |
98,356,141 (GRCm39) |
missense |
probably damaging |
1.00 |
|
BB018:Slco6d1
|
UTSW |
1 |
98,356,141 (GRCm39) |
missense |
probably damaging |
1.00 |
|
PIT4581001:Slco6d1
|
UTSW |
1 |
98,351,050 (GRCm39) |
missense |
possibly damaging |
0.46 |
|
R0326:Slco6d1
|
UTSW |
1 |
98,418,359 (GRCm39) |
missense |
probably benign |
0.02 |
|
R0359:Slco6d1
|
UTSW |
1 |
98,394,422 (GRCm39) |
missense |
probably benign |
0.21 |
|
R0554:Slco6d1
|
UTSW |
1 |
98,394,422 (GRCm39) |
missense |
probably benign |
0.21 |
|
R0589:Slco6d1
|
UTSW |
1 |
98,427,472 (GRCm39) |
splice site |
probably benign |
|
|
R0733:Slco6d1
|
UTSW |
1 |
98,355,994 (GRCm39) |
nonsense |
probably null |
|
|
R0883:Slco6d1
|
UTSW |
1 |
98,349,124 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1316:Slco6d1
|
UTSW |
1 |
98,394,518 (GRCm39) |
missense |
probably benign |
0.02 |
|
R1370:Slco6d1
|
UTSW |
1 |
98,350,819 (GRCm39) |
missense |
probably benign |
0.01 |
|
R1401:Slco6d1
|
UTSW |
1 |
98,418,341 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1691:Slco6d1
|
UTSW |
1 |
98,435,292 (GRCm39) |
missense |
probably benign |
0.34 |
|
R1740:Slco6d1
|
UTSW |
1 |
98,356,097 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1767:Slco6d1
|
UTSW |
1 |
98,418,274 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R1827:Slco6d1
|
UTSW |
1 |
98,348,941 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R2138:Slco6d1
|
UTSW |
1 |
98,371,385 (GRCm39) |
missense |
probably benign |
0.19 |
|
R2849:Slco6d1
|
UTSW |
1 |
98,394,441 (GRCm39) |
missense |
probably benign |
0.02 |
|
R3753:Slco6d1
|
UTSW |
1 |
98,427,502 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4066:Slco6d1
|
UTSW |
1 |
98,391,571 (GRCm39) |
critical splice acceptor site |
probably benign |
|
|
R4429:Slco6d1
|
UTSW |
1 |
98,424,091 (GRCm39) |
missense |
possibly damaging |
0.66 |
|
R4480:Slco6d1
|
UTSW |
1 |
98,435,299 (GRCm39) |
nonsense |
probably null |
|
|
R4656:Slco6d1
|
UTSW |
1 |
98,350,928 (GRCm39) |
missense |
probably benign |
0.06 |
|
R4810:Slco6d1
|
UTSW |
1 |
98,350,979 (GRCm39) |
missense |
possibly damaging |
0.83 |
|
R4814:Slco6d1
|
UTSW |
1 |
98,350,899 (GRCm39) |
missense |
probably benign |
0.15 |
|
R5389:Slco6d1
|
UTSW |
1 |
98,371,369 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5504:Slco6d1
|
UTSW |
1 |
98,349,064 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5619:Slco6d1
|
UTSW |
1 |
98,423,947 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5688:Slco6d1
|
UTSW |
1 |
98,408,493 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5820:Slco6d1
|
UTSW |
1 |
98,427,503 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R5878:Slco6d1
|
UTSW |
1 |
98,391,561 (GRCm39) |
splice site |
probably benign |
|
|
R6261:Slco6d1
|
UTSW |
1 |
98,427,588 (GRCm39) |
missense |
probably benign |
0.10 |
|
R6450:Slco6d1
|
UTSW |
1 |
98,349,192 (GRCm39) |
missense |
probably benign |
0.29 |
|
R6452:Slco6d1
|
UTSW |
1 |
98,348,937 (GRCm39) |
missense |
probably benign |
0.44 |
|
R7338:Slco6d1
|
UTSW |
1 |
98,349,097 (GRCm39) |
missense |
probably benign |
0.11 |
|
R7375:Slco6d1
|
UTSW |
1 |
98,349,172 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7456:Slco6d1
|
UTSW |
1 |
98,349,082 (GRCm39) |
missense |
possibly damaging |
0.66 |
|
R7567:Slco6d1
|
UTSW |
1 |
98,425,252 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7729:Slco6d1
|
UTSW |
1 |
98,425,248 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R7931:Slco6d1
|
UTSW |
1 |
98,356,141 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8088:Slco6d1
|
UTSW |
1 |
98,394,431 (GRCm39) |
missense |
possibly damaging |
0.75 |
|
R9021:Slco6d1
|
UTSW |
1 |
98,371,396 (GRCm39) |
missense |
probably benign |
0.18 |
|
R9080:Slco6d1
|
UTSW |
1 |
98,348,983 (GRCm39) |
missense |
probably benign |
0.01 |
|
R9123:Slco6d1
|
UTSW |
1 |
98,423,919 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9310:Slco6d1
|
UTSW |
1 |
98,427,619 (GRCm39) |
missense |
possibly damaging |
0.71 |
|
| Posted On |
2016-08-02 |
Incidental Mutation