Incidental Mutation 'IGL02003:Slco6d1'
ID |
182195 |
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: 0.051)
|
Stock # |
IGL02003
|
Quality Score |
|
Status
|
|
Chromosome |
1 |
Chromosomal Location |
98348849-98444716 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to A
at 98408493 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Isoleucine to Asparagine
at position 463
(I463N)
|
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: I463N
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000027575 Gene: ENSMUSG00000026336 AA Change: I463N
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: I463N
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000123850 Gene: ENSMUSG00000026336 AA Change: I463N
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: 37 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4930449E01Rik |
A |
G |
14: 105,736,392 (GRCm39) |
|
noncoding transcript |
Het |
Adam1b |
G |
A |
5: 121,639,354 (GRCm39) |
L564F |
probably damaging |
Het |
Alms1 |
C |
T |
6: 85,599,205 (GRCm39) |
P1344S |
possibly damaging |
Het |
Cnnm2 |
G |
T |
19: 46,856,998 (GRCm39) |
G699W |
probably damaging |
Het |
Crybg2 |
A |
G |
4: 133,799,767 (GRCm39) |
K309R |
probably benign |
Het |
Csnk2a1 |
C |
T |
2: 152,118,890 (GRCm39) |
R333* |
probably null |
Het |
Eif3m |
C |
T |
2: 104,843,188 (GRCm39) |
|
probably benign |
Het |
Fgfr2 |
T |
C |
7: 129,820,802 (GRCm39) |
D244G |
probably damaging |
Het |
H2-Q10 |
A |
G |
17: 35,781,338 (GRCm39) |
I47V |
probably benign |
Het |
Hmcn2 |
C |
T |
2: 31,318,994 (GRCm39) |
T3898I |
possibly damaging |
Het |
Isyna1 |
G |
A |
8: 71,049,407 (GRCm39) |
V440M |
possibly damaging |
Het |
Itpr3 |
A |
G |
17: 27,340,449 (GRCm39) |
K2654E |
probably damaging |
Het |
Lrrd1 |
C |
T |
5: 3,899,857 (GRCm39) |
T54I |
probably damaging |
Het |
Lrrk2 |
G |
A |
15: 91,615,694 (GRCm39) |
V843M |
probably damaging |
Het |
Morc2b |
A |
T |
17: 33,357,298 (GRCm39) |
V158D |
probably benign |
Het |
Mroh7 |
T |
C |
4: 106,559,726 (GRCm39) |
T734A |
probably damaging |
Het |
Mylk3 |
T |
C |
8: 86,085,727 (GRCm39) |
D136G |
probably benign |
Het |
Nos1 |
T |
C |
5: 118,043,530 (GRCm39) |
S602P |
probably damaging |
Het |
Nsmaf |
T |
C |
4: 6,418,522 (GRCm39) |
I428V |
probably benign |
Het |
Nup93 |
T |
G |
8: 95,028,737 (GRCm39) |
Y323* |
probably null |
Het |
Or5ac21 |
G |
A |
16: 59,123,996 (GRCm39) |
G161D |
probably damaging |
Het |
Or7g21 |
A |
T |
9: 19,032,361 (GRCm39) |
M34L |
probably benign |
Het |
Or8b50 |
C |
T |
9: 38,518,136 (GRCm39) |
A125V |
probably damaging |
Het |
Ppm1m |
C |
A |
9: 106,076,356 (GRCm39) |
G13W |
probably damaging |
Het |
Prok1 |
T |
G |
3: 107,142,979 (GRCm39) |
H75P |
probably damaging |
Het |
Ptprb |
A |
T |
10: 116,203,410 (GRCm39) |
I1774F |
probably damaging |
Het |
Rasl10b |
A |
T |
11: 83,308,679 (GRCm39) |
E73V |
probably damaging |
Het |
Rhbdl3 |
A |
G |
11: 80,228,342 (GRCm39) |
T271A |
possibly damaging |
Het |
Serpina3a |
A |
G |
12: 104,082,259 (GRCm39) |
M11V |
probably benign |
Het |
Setdb2 |
T |
C |
14: 59,650,939 (GRCm39) |
E464G |
probably damaging |
Het |
Slc8a1 |
A |
G |
17: 81,735,625 (GRCm39) |
I749T |
possibly damaging |
Het |
Sncb |
A |
T |
13: 54,910,743 (GRCm39) |
V51E |
probably damaging |
Het |
Stk32c |
A |
G |
7: 138,768,069 (GRCm39) |
S71P |
possibly damaging |
Het |
Tet1 |
A |
G |
10: 62,652,179 (GRCm39) |
V1613A |
possibly damaging |
Het |
Vmn2r91 |
T |
A |
17: 18,327,921 (GRCm39) |
I505K |
probably benign |
Het |
Zfp110 |
A |
T |
7: 12,583,832 (GRCm39) |
K827* |
probably null |
Het |
Zfp438 |
A |
T |
18: 5,214,503 (GRCm39) |
C152S |
probably benign |
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 |
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 |
IGL03279:Slco6d1
|
APN |
1 |
98,394,405 (GRCm39) |
missense |
probably damaging |
1.00 |
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 |
2014-05-07 |