Incidental Mutation 'R4480:Slco6d1'
ID |
331417 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Slco6d1
|
Ensembl Gene |
ENSMUSG00000026336 |
Gene Name |
solute carrier organic anion transporter family, member 6d1 |
Synonyms |
4921511I05Rik |
MMRRC Submission |
041737-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.052)
|
Stock # |
R4480 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
1 |
Chromosomal Location |
98348849-98444716 bp(+) (GRCm39) |
Type of Mutation |
nonsense |
DNA Base Change (assembly) |
T to A
at 98435299 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Tyrosine to Stop codon
at position 671
(Y671*)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000027575
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000027575]
[ENSMUST00000160796]
[ENSMUST00000162468]
|
AlphaFold |
Q9D5W6 |
Predicted Effect |
probably null
Transcript: ENSMUST00000027575
AA Change: Y671*
|
SMART Domains |
Protein: ENSMUSP00000027575 Gene: ENSMUSG00000026336 AA Change: Y671*
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
|
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 |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000162782
|
Meta Mutation Damage Score |
0.9755 |
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 97.1%
- 20x: 94.8%
|
Validation Efficiency |
95% (40/42) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 38 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abcc6 |
T |
C |
7: 45,654,663 (GRCm39) |
T553A |
possibly damaging |
Het |
Adgrb3 |
A |
T |
1: 25,150,829 (GRCm39) |
F1135I |
probably damaging |
Het |
Arfgef3 |
A |
T |
10: 18,476,348 (GRCm39) |
F1490L |
probably damaging |
Het |
Begain |
A |
G |
12: 109,000,049 (GRCm39) |
Y446H |
probably damaging |
Het |
Cdh15 |
A |
G |
8: 123,591,415 (GRCm39) |
H517R |
probably benign |
Het |
Cemip2 |
A |
G |
19: 21,792,853 (GRCm39) |
Q703R |
probably benign |
Het |
D130040H23Rik |
C |
A |
8: 69,755,155 (GRCm39) |
H187N |
possibly damaging |
Het |
Dip2b |
C |
T |
15: 100,084,182 (GRCm39) |
T935M |
probably damaging |
Het |
Eif2s2 |
T |
C |
2: 154,730,190 (GRCm39) |
T36A |
probably benign |
Het |
Eif4g1 |
G |
T |
16: 20,497,593 (GRCm39) |
|
probably benign |
Het |
Fat3 |
G |
A |
9: 15,909,567 (GRCm39) |
S2145F |
probably damaging |
Het |
Fbxo10 |
T |
C |
4: 45,048,470 (GRCm39) |
Y555C |
probably damaging |
Het |
Fpr2 |
C |
T |
17: 18,114,015 (GRCm39) |
T337I |
probably benign |
Het |
Frem3 |
A |
T |
8: 81,337,986 (GRCm39) |
Q93L |
probably benign |
Het |
Gapdh |
A |
G |
6: 125,140,145 (GRCm39) |
V119A |
possibly damaging |
Het |
Gm3159 |
T |
C |
14: 4,398,584 (GRCm38) |
Y92H |
probably damaging |
Het |
Hkdc1 |
T |
C |
10: 62,227,151 (GRCm39) |
I769V |
probably benign |
Het |
Ifne |
T |
C |
4: 88,797,838 (GRCm39) |
*193W |
probably null |
Het |
Katna1 |
T |
C |
10: 7,614,594 (GRCm39) |
V32A |
probably damaging |
Het |
Nup107 |
T |
C |
10: 117,597,237 (GRCm39) |
I673V |
probably benign |
Het |
Nup188 |
T |
A |
2: 30,212,141 (GRCm39) |
|
probably benign |
Het |
Obscn |
T |
C |
11: 59,022,472 (GRCm39) |
R758G |
possibly damaging |
Het |
Or10g1 |
G |
A |
14: 52,647,765 (GRCm39) |
A188V |
probably damaging |
Het |
Or2t48 |
G |
T |
11: 58,420,627 (GRCm39) |
P62T |
probably damaging |
Het |
Pcdhb5 |
T |
A |
18: 37,453,805 (GRCm39) |
S62T |
probably benign |
Het |
Plekha5 |
T |
C |
6: 140,472,205 (GRCm39) |
V44A |
probably damaging |
Het |
Psg18 |
C |
T |
7: 18,084,787 (GRCm39) |
S103N |
probably benign |
Het |
Ptprcap |
A |
G |
19: 4,206,223 (GRCm39) |
E102G |
probably benign |
Het |
Ptprs |
A |
G |
17: 56,733,404 (GRCm39) |
V804A |
possibly damaging |
Het |
Rab35 |
C |
A |
5: 115,775,823 (GRCm39) |
S34* |
probably null |
Het |
Sostdc1 |
A |
G |
12: 36,367,165 (GRCm39) |
I114V |
probably damaging |
Het |
Tecta |
A |
G |
9: 42,284,529 (GRCm39) |
F852S |
possibly damaging |
Het |
Tmem179 |
T |
C |
12: 112,469,737 (GRCm39) |
E21G |
probably benign |
Het |
Usp17la |
T |
A |
7: 104,509,897 (GRCm39) |
H167Q |
probably benign |
Het |
Vps8 |
A |
T |
16: 21,363,986 (GRCm39) |
|
probably benign |
Het |
Wdr17 |
A |
G |
8: 55,117,999 (GRCm39) |
|
probably null |
Het |
Wdr73 |
T |
C |
7: 80,542,969 (GRCm39) |
E213G |
probably benign |
Het |
Zfp985 |
A |
G |
4: 147,668,536 (GRCm39) |
D468G |
probably benign |
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 |
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'- TGGAAGCTCTCTGATAAGTATGAAA -3'
(R):5'- ACAGTGGTTTCACATAAATATTGTGT -3'
Sequencing Primer
(F):5'- GGGTAAATGGCATTTTTCAT -3'
(R):5'- CCATTGACAAAGGAAAAGCA -3'
|
Posted On |
2015-07-21 |