Incidental Mutation 'R5878:Slco6d1'
ID |
455633 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Slco6d1
|
Ensembl Gene |
ENSMUSG00000026336 |
Gene Name |
solute carrier organic anion transporter family, member 6d1 |
Synonyms |
4921511I05Rik |
MMRRC Submission |
044084-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.052)
|
Stock # |
R5878 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
1 |
Chromosomal Location |
98348849-98444716 bp(+) (GRCm39) |
Type of Mutation |
splice site |
DNA Base Change (assembly) |
T to A
at 98391561 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Ref Sequence |
ENSEMBL: ENSMUSP00000125258
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000027575]
[ENSMUST00000160796]
[ENSMUST00000162468]
|
AlphaFold |
Q9D5W6 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000027575
|
SMART Domains |
Protein: ENSMUSP00000027575 Gene: ENSMUSG00000026336
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 |
noncoding transcript
Transcript: ENSMUST00000160287
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000160796
|
SMART Domains |
Protein: ENSMUSP00000123850 Gene: ENSMUSG00000026336
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: 99.9%
- 3x: 99.6%
- 10x: 97.9%
- 20x: 93.7%
|
Validation Efficiency |
99% (66/67) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 64 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abca12 |
A |
T |
1: 71,385,792 (GRCm39) |
N275K |
possibly damaging |
Het |
Abhd6 |
G |
A |
14: 8,028,286 (GRCm38) |
V6I |
probably benign |
Het |
Afap1l2 |
T |
C |
19: 56,904,107 (GRCm39) |
T727A |
probably benign |
Het |
Aggf1 |
T |
C |
13: 95,506,065 (GRCm39) |
E174G |
probably benign |
Het |
Ahnak |
T |
G |
19: 8,985,706 (GRCm39) |
L2330R |
probably damaging |
Het |
Arb2a |
T |
A |
13: 78,100,186 (GRCm39) |
V129E |
probably damaging |
Het |
Arfgef2 |
A |
G |
2: 166,712,137 (GRCm39) |
T1205A |
probably benign |
Het |
Ccdc3 |
T |
C |
2: 5,233,827 (GRCm39) |
L217P |
probably benign |
Het |
Cfap54 |
T |
C |
10: 92,800,423 (GRCm39) |
D1595G |
probably benign |
Het |
Cps1 |
G |
T |
1: 67,197,037 (GRCm39) |
|
probably null |
Het |
Fam120b |
A |
G |
17: 15,622,502 (GRCm39) |
D160G |
probably damaging |
Het |
Fezf1 |
C |
A |
6: 23,247,580 (GRCm39) |
R165L |
possibly damaging |
Het |
Fkbp15 |
A |
T |
4: 62,225,145 (GRCm39) |
L838H |
probably benign |
Het |
Frmd3 |
G |
A |
4: 74,071,847 (GRCm39) |
G243D |
probably damaging |
Het |
Gldc |
A |
T |
19: 30,120,867 (GRCm39) |
|
probably null |
Het |
Gm10188 |
T |
C |
1: 132,156,940 (GRCm39) |
|
probably benign |
Het |
Gm5190 |
T |
A |
12: 113,360,859 (GRCm39) |
|
noncoding transcript |
Het |
Gria1 |
T |
C |
11: 57,208,628 (GRCm39) |
|
probably null |
Het |
Hdhd5 |
A |
G |
6: 120,491,485 (GRCm39) |
L206P |
probably damaging |
Het |
Herc2 |
A |
G |
7: 55,773,996 (GRCm39) |
N1149S |
probably benign |
Het |
Inca1 |
G |
A |
11: 70,586,808 (GRCm39) |
|
probably benign |
Het |
Iqch |
G |
A |
9: 63,455,272 (GRCm39) |
S175F |
probably damaging |
Het |
Itpr3 |
T |
G |
17: 27,329,836 (GRCm39) |
D1543E |
probably benign |
Het |
Khk |
T |
A |
5: 31,088,219 (GRCm39) |
|
probably null |
Het |
Kiz |
C |
T |
2: 146,731,521 (GRCm39) |
S337L |
probably damaging |
Het |
Lzts3 |
G |
A |
2: 130,478,459 (GRCm39) |
T213I |
probably damaging |
Het |
Mab21l2 |
T |
A |
3: 86,454,025 (GRCm39) |
D325V |
probably damaging |
Het |
Mctp2 |
A |
G |
7: 71,863,856 (GRCm39) |
S336P |
probably benign |
Het |
Me3 |
T |
A |
7: 89,497,214 (GRCm39) |
L405Q |
probably benign |
Het |
Mgst2 |
A |
T |
3: 51,568,651 (GRCm39) |
|
probably benign |
Het |
Myh2 |
A |
G |
11: 67,083,330 (GRCm39) |
E1431G |
probably damaging |
Het |
Naip6 |
A |
G |
13: 100,436,181 (GRCm39) |
S781P |
probably damaging |
Het |
Nr3c2 |
A |
G |
8: 77,634,897 (GRCm39) |
|
probably null |
Het |
Or10ab5 |
A |
T |
7: 108,244,946 (GRCm39) |
L279Q |
probably damaging |
Het |
Or6s1 |
A |
G |
14: 51,308,449 (GRCm39) |
Y134H |
probably damaging |
Het |
Or6x1 |
C |
T |
9: 40,098,867 (GRCm39) |
T152I |
probably benign |
Het |
Otop1 |
G |
T |
5: 38,435,166 (GRCm39) |
R132L |
possibly damaging |
Het |
Parg |
T |
A |
14: 31,939,619 (GRCm39) |
D548E |
possibly damaging |
Het |
Pcdhga4 |
G |
T |
18: 37,820,739 (GRCm39) |
G763W |
probably benign |
Het |
Pde10a |
A |
G |
17: 9,168,204 (GRCm39) |
N9S |
possibly damaging |
Het |
Pi4k2a |
T |
C |
19: 42,089,080 (GRCm39) |
I147T |
probably benign |
Het |
Polh |
T |
A |
17: 46,505,251 (GRCm39) |
T122S |
probably damaging |
Het |
Ptpn13 |
T |
C |
5: 103,624,984 (GRCm39) |
V96A |
possibly damaging |
Het |
Ptpn6 |
C |
A |
6: 124,705,748 (GRCm39) |
C132F |
probably damaging |
Het |
Rbm19 |
T |
A |
5: 120,270,932 (GRCm39) |
V585E |
probably damaging |
Het |
Relch |
T |
A |
1: 105,620,685 (GRCm39) |
S387T |
probably benign |
Het |
Rp1l1 |
C |
T |
14: 64,266,355 (GRCm39) |
P647L |
probably benign |
Het |
Rrp1b |
A |
G |
17: 32,266,649 (GRCm39) |
E72G |
probably damaging |
Het |
Shcbp1 |
A |
T |
8: 4,798,742 (GRCm39) |
H392Q |
probably benign |
Het |
Skic2 |
C |
T |
17: 35,065,093 (GRCm39) |
R371Q |
possibly damaging |
Het |
Slc13a5 |
G |
A |
11: 72,144,217 (GRCm39) |
T287I |
possibly damaging |
Het |
Slc22a27 |
T |
A |
19: 7,904,122 (GRCm39) |
E5V |
probably benign |
Het |
Slc38a2 |
A |
G |
15: 96,590,465 (GRCm39) |
V293A |
probably damaging |
Het |
Sri |
G |
C |
5: 8,109,353 (GRCm39) |
D46H |
probably damaging |
Het |
Tango6 |
A |
G |
8: 107,415,800 (GRCm39) |
D207G |
possibly damaging |
Het |
Tigd4 |
T |
C |
3: 84,501,749 (GRCm39) |
M222T |
probably benign |
Het |
Tmem229a |
T |
C |
6: 24,955,172 (GRCm39) |
D194G |
probably benign |
Het |
Trank1 |
T |
C |
9: 111,195,753 (GRCm39) |
V1259A |
possibly damaging |
Het |
Trdv5 |
T |
C |
14: 54,386,255 (GRCm39) |
D70G |
probably benign |
Het |
Trim52 |
T |
A |
14: 106,344,375 (GRCm39) |
M11K |
probably damaging |
Het |
Wdr62 |
A |
G |
7: 29,940,772 (GRCm39) |
M882T |
probably benign |
Het |
Ybx3 |
A |
G |
6: 131,344,726 (GRCm39) |
|
probably null |
Het |
Zfand2b |
A |
G |
1: 75,147,154 (GRCm39) |
|
probably benign |
Het |
Zfp91 |
T |
A |
19: 12,747,684 (GRCm39) |
T480S |
possibly 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 |
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 |
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'- TGGTGAATAAAACCAGGTTATGTCA -3'
(R):5'- ACAGCTAGAAGTGTCAGTATACCTG -3'
Sequencing Primer
(F):5'- GGGATGCATTTTCTCCCATTCAGAG -3'
(R):5'- CCTGATATCAAGAGCAATGTAGAGCC -3'
|
Posted On |
2017-02-10 |