Incidental Mutation 'IGL01694:Slco6d1'
| ID |
104222 |
| 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 # |
IGL01694
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
1 |
| Chromosomal Location |
98348849-98444716 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 98427570 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Tryptophan
at position 634
(R634W)
|
| 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: R634W
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000027575
Gene: ENSMUSG00000026336
AA Change: R634W
| 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: R634W
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000123850
Gene: ENSMUSG00000026336
AA Change: R634W
| 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 |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000162782
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 32 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930474N05Rik |
A |
G |
14: 35,818,659 (GRCm39) |
*219W |
probably null |
Het |
| Abi1 |
G |
A |
2: 22,850,725 (GRCm39) |
T238M |
probably damaging |
Het |
| Agbl2 |
C |
T |
2: 90,631,418 (GRCm39) |
L259F |
probably damaging |
Het |
| Cacna1g |
T |
A |
11: 94,319,938 (GRCm39) |
I1413F |
probably damaging |
Het |
| Ddx21 |
T |
A |
10: 62,434,430 (GRCm39) |
K110* |
probably null |
Het |
| Dnm1l |
A |
T |
16: 16,134,515 (GRCm39) |
I463N |
probably benign |
Het |
| Dst |
C |
A |
1: 34,227,241 (GRCm39) |
H1286Q |
probably benign |
Het |
| Elmo2 |
A |
T |
2: 165,156,693 (GRCm39) |
N67K |
probably benign |
Het |
| Eps8l3 |
G |
A |
3: 107,799,624 (GRCm39) |
C578Y |
probably damaging |
Het |
| Fam83b |
T |
A |
9: 76,398,272 (GRCm39) |
I944F |
probably benign |
Het |
| Itga10 |
A |
T |
3: 96,559,833 (GRCm39) |
D496V |
probably damaging |
Het |
| Lama2 |
T |
G |
10: 26,882,738 (GRCm39) |
K2608N |
possibly damaging |
Het |
| Lap3 |
T |
A |
5: 45,655,937 (GRCm39) |
|
probably null |
Het |
| Madd |
T |
C |
2: 90,988,320 (GRCm39) |
|
probably benign |
Het |
| Mdh1b |
T |
A |
1: 63,750,265 (GRCm39) |
|
probably benign |
Het |
| Ncapg2 |
G |
A |
12: 116,370,850 (GRCm39) |
|
probably benign |
Het |
| Opalin |
A |
G |
19: 41,052,239 (GRCm39) |
|
probably benign |
Het |
| Or4e2 |
A |
G |
14: 52,688,041 (GRCm39) |
N57S |
probably benign |
Het |
| Plxna3 |
T |
A |
X: 73,382,114 (GRCm39) |
D1291E |
probably damaging |
Het |
| Prss40 |
T |
A |
1: 34,595,178 (GRCm39) |
I101F |
probably benign |
Het |
| Rpl5 |
T |
C |
5: 108,055,106 (GRCm39) |
Y253H |
probably benign |
Het |
| Sephs2 |
A |
G |
7: 126,872,259 (GRCm39) |
I278T |
probably benign |
Het |
| Slc25a34 |
G |
A |
4: 141,349,564 (GRCm39) |
A197V |
probably benign |
Het |
| Smarca4 |
C |
A |
9: 21,577,166 (GRCm39) |
A871D |
probably damaging |
Het |
| Speer2 |
C |
T |
16: 69,655,000 (GRCm39) |
S155N |
probably damaging |
Het |
| Speer2 |
T |
A |
16: 69,655,001 (GRCm39) |
S155C |
probably damaging |
Het |
| Spink12 |
T |
A |
18: 44,240,827 (GRCm39) |
V71E |
probably damaging |
Het |
| Tecta |
T |
C |
9: 42,278,475 (GRCm39) |
D1011G |
possibly damaging |
Het |
| Tmtc4 |
G |
A |
14: 123,210,624 (GRCm39) |
T78I |
possibly damaging |
Het |
| Tub |
T |
C |
7: 108,620,243 (GRCm39) |
|
probably benign |
Het |
| Vps13c |
T |
A |
9: 67,802,631 (GRCm39) |
V644D |
probably damaging |
Het |
| Zfp7 |
C |
T |
15: 76,774,995 (GRCm39) |
Q346* |
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 |
|
|
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 |
|
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 |
2014-01-21 |
Incidental Mutation