Incidental Mutation 'R0359:Slco6d1'
| ID |
29970 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Slco6d1
|
| Ensembl Gene |
ENSMUSG00000026336 |
| Gene Name |
solute carrier organic anion transporter family, member 6d1 |
| Synonyms |
4921511I05Rik |
| MMRRC Submission |
038565-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.052)
|
| Stock # |
R0359 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
1 |
| Chromosomal Location |
98348849-98444716 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 98394422 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Cysteine to Serine
at position 369
(C369S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000027575
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000027575]
[ENSMUST00000160796]
[ENSMUST00000162468]
|
| AlphaFold |
Q9D5W6 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000027575
AA Change: C369S
PolyPhen 2
Score 0.208 (Sensitivity: 0.92; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000027575
Gene: ENSMUSG00000026336
AA Change: C369S
| 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 benign
Transcript: ENSMUST00000160796
AA Change: C369S
PolyPhen 2
Score 0.105 (Sensitivity: 0.93; Specificity: 0.86)
|
| SMART Domains |
Protein: ENSMUSP00000123850
Gene: ENSMUSG00000026336
AA Change: C369S
| 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 |
|
| Meta Mutation Damage Score |
0.0898 |
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.2%
- 10x: 96.1%
- 20x: 92.3%
|
| Validation Efficiency |
100% (65/65) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 65 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700018F24Rik |
T |
A |
5: 144,982,181 (GRCm39) |
Y255* |
probably null |
Het |
| 2310003L06Rik |
A |
T |
5: 88,112,455 (GRCm39) |
|
probably benign |
Het |
| Abcb5 |
A |
G |
12: 118,904,067 (GRCm39) |
S213P |
probably damaging |
Het |
| Agpat1 |
A |
G |
17: 34,829,551 (GRCm39) |
I42V |
probably benign |
Het |
| Apoh |
A |
T |
11: 108,288,199 (GRCm39) |
I106F |
probably damaging |
Het |
| BB014433 |
G |
T |
8: 15,092,540 (GRCm39) |
C104* |
probably null |
Het |
| Bsn |
C |
T |
9: 107,989,045 (GRCm39) |
G2236S |
possibly damaging |
Het |
| Casp9 |
A |
G |
4: 141,521,221 (GRCm39) |
E19G |
probably damaging |
Het |
| Ces1g |
T |
C |
8: 94,055,163 (GRCm39) |
|
probably benign |
Het |
| Cfap65 |
T |
A |
1: 74,959,760 (GRCm39) |
M797L |
probably benign |
Het |
| Col14a1 |
A |
G |
15: 55,271,264 (GRCm39) |
|
probably benign |
Het |
| Col1a2 |
G |
A |
6: 4,518,822 (GRCm39) |
|
probably benign |
Het |
| Col27a1 |
G |
T |
4: 63,232,964 (GRCm39) |
|
probably null |
Het |
| Col6a4 |
T |
A |
9: 105,874,345 (GRCm39) |
H2214L |
probably benign |
Het |
| Ctu2 |
T |
G |
8: 123,204,932 (GRCm39) |
S72R |
probably damaging |
Het |
| Cyp24a1 |
T |
A |
2: 170,333,619 (GRCm39) |
M245L |
possibly damaging |
Het |
| Dgkb |
T |
A |
12: 38,266,030 (GRCm39) |
V503E |
probably benign |
Het |
| Diaph3 |
T |
C |
14: 87,206,938 (GRCm39) |
R501G |
probably benign |
Het |
| Dip2b |
A |
G |
15: 100,109,874 (GRCm39) |
D1453G |
probably damaging |
Het |
| Dnah2 |
G |
A |
11: 69,420,357 (GRCm39) |
T119M |
probably benign |
Het |
| F5 |
T |
G |
1: 164,007,018 (GRCm39) |
V274G |
probably damaging |
Het |
| Farp1 |
A |
T |
14: 121,492,808 (GRCm39) |
|
probably benign |
Het |
| Fcsk |
T |
C |
8: 111,619,891 (GRCm39) |
|
probably null |
Het |
| Foxf1 |
T |
C |
8: 121,811,742 (GRCm39) |
V202A |
possibly damaging |
Het |
| Fras1 |
G |
A |
5: 96,910,449 (GRCm39) |
V3293I |
probably damaging |
Het |
| Furin |
C |
T |
7: 80,041,032 (GRCm39) |
G602D |
probably damaging |
Het |
| Gclm |
T |
C |
3: 122,049,269 (GRCm39) |
|
probably benign |
Het |
| Gemin4 |
G |
A |
11: 76,102,988 (GRCm39) |
T591M |
probably benign |
Het |
| Glrx3 |
T |
C |
7: 137,055,214 (GRCm39) |
S119P |
possibly damaging |
Het |
| Gm16485 |
G |
T |
9: 8,972,437 (GRCm39) |
|
probably benign |
Het |
| Helq |
T |
C |
5: 100,938,066 (GRCm39) |
N460S |
probably benign |
Het |
| Hs6st1 |
G |
A |
1: 36,108,266 (GRCm39) |
|
probably null |
Het |
| Kpna2 |
A |
G |
11: 106,882,148 (GRCm39) |
L226S |
probably damaging |
Het |
| Myom3 |
G |
A |
4: 135,505,454 (GRCm39) |
V448M |
probably damaging |
Het |
| Nalcn |
A |
G |
14: 123,536,580 (GRCm39) |
S1224P |
probably damaging |
Het |
| Or52n2 |
A |
T |
7: 104,542,521 (GRCm39) |
F105I |
probably damaging |
Het |
| Or56b1b |
C |
T |
7: 108,164,721 (GRCm39) |
D94N |
probably benign |
Het |
| Or7a38 |
A |
G |
10: 78,753,177 (GRCm39) |
T168A |
probably benign |
Het |
| Plag1 |
C |
T |
4: 3,904,546 (GRCm39) |
C215Y |
probably damaging |
Het |
| Plekha5 |
G |
A |
6: 140,537,473 (GRCm39) |
R646K |
possibly damaging |
Het |
| Pot1a |
G |
A |
6: 25,771,679 (GRCm39) |
|
probably benign |
Het |
| Ppfia1 |
T |
C |
7: 144,038,929 (GRCm39) |
D494G |
probably damaging |
Het |
| Ppp1r1a |
T |
A |
15: 103,441,915 (GRCm39) |
D51V |
probably damaging |
Het |
| Ptprz1 |
T |
A |
6: 22,973,175 (GRCm39) |
|
probably benign |
Het |
| Rad51ap1 |
A |
T |
6: 126,911,704 (GRCm39) |
V61D |
probably damaging |
Het |
| Reln |
G |
A |
5: 22,253,798 (GRCm39) |
L605F |
probably damaging |
Het |
| Riok3 |
T |
C |
18: 12,282,006 (GRCm39) |
I325T |
probably damaging |
Het |
| Sclt1 |
A |
T |
3: 41,616,005 (GRCm39) |
|
probably null |
Het |
| Slc25a39 |
A |
G |
11: 102,297,395 (GRCm39) |
V24A |
possibly damaging |
Het |
| Slc9a3 |
T |
G |
13: 74,305,726 (GRCm39) |
S248A |
probably damaging |
Het |
| Spen |
T |
C |
4: 141,244,181 (GRCm39) |
S285G |
unknown |
Het |
| Stxbp5l |
A |
G |
16: 37,036,440 (GRCm39) |
|
probably benign |
Het |
| Thsd7a |
G |
A |
6: 12,352,030 (GRCm39) |
P1055L |
probably damaging |
Het |
| Tmed3 |
C |
T |
9: 89,581,842 (GRCm39) |
S207N |
possibly damaging |
Het |
| Trerf1 |
G |
T |
17: 47,652,062 (GRCm39) |
|
noncoding transcript |
Het |
| Triml1 |
A |
T |
8: 43,583,542 (GRCm39) |
V353E |
probably damaging |
Het |
| Ttn |
G |
A |
2: 76,549,401 (GRCm39) |
R31759C |
probably damaging |
Het |
| Ugt2b37 |
T |
C |
5: 87,398,443 (GRCm39) |
Q331R |
probably benign |
Het |
| Urb1 |
A |
G |
16: 90,588,048 (GRCm39) |
I420T |
probably damaging |
Het |
| Vmn1r68 |
A |
T |
7: 10,261,201 (GRCm39) |
L299Q |
probably damaging |
Het |
| Vmn1r81 |
T |
A |
7: 11,993,877 (GRCm39) |
T244S |
probably damaging |
Het |
| Vps13a |
A |
G |
19: 16,618,941 (GRCm39) |
F2875S |
probably damaging |
Het |
| Wscd1 |
A |
G |
11: 71,657,692 (GRCm39) |
M166V |
probably damaging |
Het |
| Zfp296 |
T |
C |
7: 19,313,864 (GRCm39) |
Y240H |
possibly damaging |
Het |
| Zfp462 |
A |
G |
4: 55,013,689 (GRCm39) |
H737R |
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 |
|
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- CCCATGCTTAGTGGCTTGATGGAAAT -3'
(R):5'- ACACATGCTCTCTTCTGCTTACATGAC -3'
Sequencing Primer
(F):5'- GATGCCAAATTAGACAGTACTTACC -3'
(R):5'- TCTCTTCTGCTTACATGACATATTTC -3'
|
| Posted On |
2013-04-24 |
Incidental Mutation