Incidental Mutation 'R2849:Slco6d1'
ID |
251906 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Slco6d1
|
Ensembl Gene |
ENSMUSG00000026336 |
Gene Name |
solute carrier organic anion transporter family, member 6d1 |
Synonyms |
4921511I05Rik |
MMRRC Submission |
040442-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.051)
|
Stock # |
R2849 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
1 |
Chromosomal Location |
98348849-98444716 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to T
at 98394441 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Threonine to Isoleucine
at position 375
(T375I)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000123850
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000027575]
[ENSMUST00000160796]
[ENSMUST00000162468]
|
AlphaFold |
Q9D5W6 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000027575
AA Change: T375I
PolyPhen 2
Score 0.016 (Sensitivity: 0.95; Specificity: 0.79)
|
SMART Domains |
Protein: ENSMUSP00000027575 Gene: ENSMUSG00000026336 AA Change: T375I
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: T375I
PolyPhen 2
Score 0.016 (Sensitivity: 0.95; Specificity: 0.79)
|
SMART Domains |
Protein: ENSMUSP00000123850 Gene: ENSMUSG00000026336 AA Change: T375I
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 |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.2%
- 20x: 94.8%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 61 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abca17 |
G |
C |
17: 24,508,481 (GRCm39) |
T1018R |
probably damaging |
Het |
Abca8a |
T |
C |
11: 109,932,931 (GRCm39) |
D1231G |
probably damaging |
Het |
Adcy7 |
A |
G |
8: 89,054,021 (GRCm39) |
I1017V |
probably benign |
Het |
Agpat2 |
A |
G |
2: 26,487,251 (GRCm39) |
I109T |
probably damaging |
Het |
Aldh9a1 |
G |
A |
1: 167,180,197 (GRCm39) |
R97H |
probably damaging |
Het |
Als2 |
G |
A |
1: 59,245,697 (GRCm39) |
T593M |
probably damaging |
Het |
Ap3d1 |
G |
C |
10: 80,577,742 (GRCm39) |
H28Q |
possibly damaging |
Het |
Atxn1 |
A |
T |
13: 45,720,175 (GRCm39) |
D573E |
probably damaging |
Het |
Begain |
T |
A |
12: 108,999,044 (GRCm39) |
M576L |
probably benign |
Het |
Bod1l |
T |
C |
5: 41,995,419 (GRCm39) |
N109S |
probably damaging |
Het |
Boll |
A |
G |
1: 55,385,532 (GRCm39) |
M131T |
possibly damaging |
Het |
Celf2 |
T |
C |
2: 6,608,936 (GRCm39) |
R282G |
probably damaging |
Het |
Cers2 |
T |
C |
3: 95,229,770 (GRCm39) |
F330L |
probably benign |
Het |
Chst13 |
T |
C |
6: 90,286,140 (GRCm39) |
D274G |
probably benign |
Het |
Cimap1a |
A |
G |
7: 140,429,182 (GRCm39) |
T156A |
probably benign |
Het |
Cstdc5 |
T |
A |
16: 36,187,814 (GRCm39) |
Q17L |
probably damaging |
Het |
Dclk2 |
A |
G |
3: 86,700,530 (GRCm39) |
V649A |
probably damaging |
Het |
Deaf1 |
T |
C |
7: 140,894,367 (GRCm39) |
*54W |
probably null |
Het |
Fbf1 |
C |
T |
11: 116,048,514 (GRCm39) |
|
probably null |
Het |
Fbxo32 |
C |
T |
15: 58,071,368 (GRCm39) |
S71N |
probably benign |
Het |
Fbxo42 |
T |
A |
4: 140,927,821 (GRCm39) |
N700K |
probably damaging |
Het |
Fis1 |
T |
C |
5: 136,991,971 (GRCm39) |
I55T |
possibly damaging |
Het |
Fyco1 |
A |
T |
9: 123,663,891 (GRCm39) |
L121* |
probably null |
Het |
Gm2381 |
G |
A |
7: 42,469,831 (GRCm39) |
P98S |
probably damaging |
Het |
Grm7 |
G |
T |
6: 110,623,309 (GRCm39) |
V161F |
probably damaging |
Het |
Gtf2ird1 |
G |
A |
5: 134,387,861 (GRCm39) |
T946I |
probably damaging |
Het |
Hmcn1 |
G |
T |
1: 150,439,350 (GRCm39) |
Y5494* |
probably null |
Het |
Josd2 |
A |
G |
7: 44,118,397 (GRCm39) |
|
probably null |
Het |
Lfng |
T |
A |
5: 140,597,622 (GRCm39) |
D149E |
probably damaging |
Het |
Lrp1 |
C |
T |
10: 127,378,165 (GRCm39) |
A4052T |
probably damaging |
Het |
Lrrtm3 |
T |
C |
10: 63,924,810 (GRCm39) |
N119S |
probably damaging |
Het |
Lypd6 |
C |
T |
2: 50,055,664 (GRCm39) |
P38L |
probably damaging |
Het |
Msl3l2 |
T |
C |
10: 55,991,538 (GRCm39) |
C88R |
probably benign |
Het |
Nsd1 |
A |
G |
13: 55,361,505 (GRCm39) |
T158A |
probably damaging |
Het |
Nudt22 |
A |
T |
19: 6,970,852 (GRCm39) |
S239R |
probably benign |
Het |
Or4g7 |
T |
C |
2: 111,309,699 (GRCm39) |
M190T |
probably benign |
Het |
Or52r1c |
A |
T |
7: 102,735,319 (GRCm39) |
D193V |
probably damaging |
Het |
Osbpl8 |
T |
A |
10: 111,105,297 (GRCm39) |
S251T |
probably benign |
Het |
Otop3 |
T |
C |
11: 115,235,384 (GRCm39) |
F339L |
probably damaging |
Het |
Pcdhga10 |
T |
A |
18: 37,881,253 (GRCm39) |
V338E |
possibly damaging |
Het |
Pcnx2 |
A |
G |
8: 126,487,666 (GRCm39) |
F1779S |
probably damaging |
Het |
Plxna4 |
T |
C |
6: 32,162,467 (GRCm39) |
K1349E |
probably damaging |
Het |
Poteg |
A |
T |
8: 27,971,704 (GRCm39) |
N406I |
probably benign |
Het |
Ppp4r4 |
T |
C |
12: 103,573,192 (GRCm39) |
V697A |
probably benign |
Het |
Ptpra |
C |
A |
2: 130,386,919 (GRCm39) |
H603Q |
probably benign |
Het |
Rnf10 |
T |
C |
5: 115,387,171 (GRCm39) |
D439G |
probably benign |
Het |
Rnf43 |
T |
A |
11: 87,623,093 (GRCm39) |
N731K |
probably benign |
Het |
Slc2a4 |
T |
A |
11: 69,836,997 (GRCm39) |
N116Y |
probably damaging |
Het |
Slc6a15 |
C |
A |
10: 103,240,552 (GRCm39) |
H392N |
probably benign |
Het |
Smpd4 |
A |
G |
16: 17,460,076 (GRCm39) |
D436G |
probably damaging |
Het |
Spata22 |
G |
A |
11: 73,244,571 (GRCm39) |
W311* |
probably null |
Het |
Syt3 |
G |
A |
7: 44,042,866 (GRCm39) |
V383I |
probably benign |
Het |
Tle6 |
T |
A |
10: 81,430,235 (GRCm39) |
I306F |
probably damaging |
Het |
Tox3 |
G |
A |
8: 90,975,018 (GRCm39) |
Q538* |
probably null |
Het |
Trim24 |
T |
A |
6: 37,933,388 (GRCm39) |
S656T |
probably damaging |
Het |
Trnau1ap |
C |
A |
4: 132,049,045 (GRCm39) |
V119F |
possibly damaging |
Het |
Vmn1r181 |
G |
T |
7: 23,683,943 (GRCm39) |
S136I |
possibly damaging |
Het |
Vmn1r82 |
T |
C |
7: 12,039,333 (GRCm39) |
V202A |
probably damaging |
Het |
Zfp607b |
G |
A |
7: 27,401,819 (GRCm39) |
V92I |
probably benign |
Het |
Zfp964 |
G |
C |
8: 70,116,504 (GRCm39) |
C368S |
unknown |
Het |
Zw10 |
A |
G |
9: 48,968,941 (GRCm39) |
|
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 |
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 |
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'- GCTACCTGATCTTTAGGTAAAAGC -3'
(R):5'- AGTACACTACACATGCTCTCTTCTG -3'
Sequencing Primer
(F):5'- CATATGGAATTGTGTCTACTATGGAG -3'
(R):5'- ACATGCTCTCTTCTGCTTACATGAC -3'
|
Posted On |
2014-12-04 |