Incidental Mutation 'IGL02085:Slco6d1'
ID |
283502 |
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 # |
IGL02085
|
Quality Score |
|
Status
|
|
Chromosome |
1 |
Chromosomal Location |
98348849-98444716 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to A
at 98371468 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Proline to Threonine
at position 275
(P275T)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000125258
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000027575]
[ENSMUST00000160796]
[ENSMUST00000162468]
|
AlphaFold |
Q9D5W6 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000027575
AA Change: P318T
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
SMART Domains |
Protein: ENSMUSP00000027575 Gene: ENSMUSG00000026336 AA Change: P318T
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: P318T
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
SMART Domains |
Protein: ENSMUSP00000123850 Gene: ENSMUSG00000026336 AA Change: P318T
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 damaging
Transcript: ENSMUST00000162468
AA Change: P275T
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000125258 Gene: ENSMUSG00000026336 AA Change: P275T
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: 46 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abcg4 |
A |
G |
9: 44,192,854 (GRCm39) |
|
probably null |
Het |
Akr1c14 |
T |
A |
13: 4,128,035 (GRCm39) |
C145* |
probably null |
Het |
Arhgef26 |
A |
G |
3: 62,367,145 (GRCm39) |
|
probably benign |
Het |
Asb9 |
A |
G |
X: 163,318,452 (GRCm39) |
M215V |
probably benign |
Het |
Atoh8 |
C |
A |
6: 72,212,157 (GRCm39) |
|
probably benign |
Het |
Atp6v1b1 |
T |
A |
6: 83,730,897 (GRCm39) |
|
probably benign |
Het |
Cep97 |
T |
C |
16: 55,735,868 (GRCm39) |
E310G |
probably damaging |
Het |
Ctrc |
C |
T |
4: 141,571,025 (GRCm39) |
D72N |
possibly damaging |
Het |
Dnah2 |
A |
G |
11: 69,349,011 (GRCm39) |
I2492T |
probably benign |
Het |
Emilin2 |
A |
G |
17: 71,582,144 (GRCm39) |
V194A |
probably damaging |
Het |
Epb41l5 |
T |
C |
1: 119,500,586 (GRCm39) |
T524A |
probably benign |
Het |
Fam91a1 |
A |
G |
15: 58,313,505 (GRCm39) |
N497S |
possibly damaging |
Het |
Gabpb1 |
A |
T |
2: 126,481,191 (GRCm39) |
C319* |
probably null |
Het |
Galnt10 |
A |
G |
11: 57,673,104 (GRCm39) |
T487A |
probably benign |
Het |
Hecw2 |
T |
A |
1: 53,981,961 (GRCm39) |
|
probably null |
Het |
Hmg20a |
C |
T |
9: 56,384,586 (GRCm39) |
Q119* |
probably null |
Het |
Ifi44l |
A |
G |
3: 151,468,477 (GRCm39) |
S18P |
unknown |
Het |
Immt |
T |
A |
6: 71,828,820 (GRCm39) |
V125E |
probably benign |
Het |
Ints13 |
T |
C |
6: 146,451,437 (GRCm39) |
|
probably benign |
Het |
Lrp1b |
C |
T |
2: 40,779,321 (GRCm39) |
G2574S |
probably benign |
Het |
Myoc |
T |
C |
1: 162,467,343 (GRCm39) |
C171R |
probably benign |
Het |
Ncbp1 |
C |
T |
4: 46,159,699 (GRCm39) |
T404M |
probably damaging |
Het |
Npy6r |
A |
G |
18: 44,408,998 (GRCm39) |
N140D |
probably damaging |
Het |
Nrxn2 |
A |
T |
19: 6,542,898 (GRCm39) |
M1041L |
possibly damaging |
Het |
Nsmaf |
G |
A |
4: 6,398,551 (GRCm39) |
P851L |
probably benign |
Het |
Nutm2 |
T |
A |
13: 50,627,829 (GRCm39) |
|
probably null |
Het |
Or10ak8 |
A |
G |
4: 118,773,947 (GRCm39) |
F239S |
probably damaging |
Het |
Or2g25 |
A |
G |
17: 37,970,579 (GRCm39) |
V215A |
probably benign |
Het |
Or4f61 |
A |
C |
2: 111,922,869 (GRCm39) |
M59R |
probably damaging |
Het |
Padi2 |
T |
G |
4: 140,654,468 (GRCm39) |
Y206* |
probably null |
Het |
Pcdh19 |
A |
T |
X: 132,582,007 (GRCm39) |
Y766* |
probably null |
Het |
Pde12 |
A |
G |
14: 26,387,619 (GRCm39) |
|
probably benign |
Het |
Ppl |
C |
T |
16: 4,907,680 (GRCm39) |
G872R |
probably benign |
Het |
Prkag3 |
C |
T |
1: 74,787,971 (GRCm39) |
|
probably benign |
Het |
Ptgfr |
T |
C |
3: 151,541,437 (GRCm39) |
T24A |
probably benign |
Het |
Rpe65 |
T |
C |
3: 159,321,283 (GRCm39) |
V365A |
probably benign |
Het |
Shank3 |
T |
C |
15: 89,388,118 (GRCm39) |
|
probably null |
Het |
Slco1a6 |
T |
C |
6: 142,032,200 (GRCm39) |
T642A |
probably benign |
Het |
Smarca1 |
G |
T |
X: 46,964,109 (GRCm39) |
Q343K |
probably damaging |
Het |
Smoc2 |
A |
G |
17: 14,567,495 (GRCm39) |
T180A |
possibly damaging |
Het |
Tfrc |
G |
A |
16: 32,440,004 (GRCm39) |
V406I |
probably benign |
Het |
Tigit |
C |
T |
16: 43,469,473 (GRCm39) |
G206D |
probably benign |
Het |
Triobp |
G |
A |
15: 78,858,497 (GRCm39) |
|
probably benign |
Het |
Trmo |
T |
C |
4: 46,380,217 (GRCm39) |
Y384C |
probably damaging |
Het |
Vmn1r89 |
T |
A |
7: 12,953,465 (GRCm39) |
I67N |
probably damaging |
Het |
Wdr17 |
C |
A |
8: 55,140,771 (GRCm39) |
E194* |
probably null |
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 |
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 |
2015-04-16 |