Incidental Mutation 'R5874:Slco1a8'
ID |
455382 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Slco1a8
|
Ensembl Gene |
ENSMUSG00000079263 |
Gene Name |
solute carrier organic anion transporter family, member 1a8 |
Synonyms |
Gm6614 |
MMRRC Submission |
044081-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.063)
|
Stock # |
R5874 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
6 |
Chromosomal Location |
141917571-141957140 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to T
at 141917961 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Histidine to Glutamine
at position 638
(H638Q)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000137696
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000111832]
[ENSMUST00000181628]
[ENSMUST00000181791]
|
AlphaFold |
M0QWR8 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000111832
AA Change: H638Q
PolyPhen 2
Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
|
SMART Domains |
Protein: ENSMUSP00000107463 Gene: ENSMUSG00000079263 AA Change: H638Q
Domain | Start | End | E-Value | Type |
Pfam:OATP
|
1 |
577 |
2.5e-156 |
PFAM |
Pfam:MFS_1
|
125 |
402 |
1e-23 |
PFAM |
Pfam:Kazal_2
|
425 |
466 |
4.1e-9 |
PFAM |
transmembrane domain
|
580 |
602 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000181628
AA Change: H658Q
PolyPhen 2
Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
|
SMART Domains |
Protein: ENSMUSP00000137967 Gene: ENSMUSG00000079263 AA Change: H658Q
Domain | Start | End | E-Value | Type |
Pfam:OATP
|
19 |
598 |
2.8e-187 |
PFAM |
Pfam:MFS_1
|
145 |
422 |
8e-24 |
PFAM |
Pfam:Kazal_2
|
445 |
486 |
1.1e-7 |
PFAM |
transmembrane domain
|
600 |
622 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000181791
AA Change: H638Q
PolyPhen 2
Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
|
SMART Domains |
Protein: ENSMUSP00000137696 Gene: ENSMUSG00000079263 AA Change: H638Q
Domain | Start | End | E-Value | Type |
Pfam:OATP
|
1 |
578 |
2.3e-186 |
PFAM |
Pfam:MFS_1
|
125 |
402 |
8.6e-24 |
PFAM |
Pfam:Kazal_2
|
425 |
466 |
1.4e-7 |
PFAM |
transmembrane domain
|
580 |
602 |
N/A |
INTRINSIC |
|
Meta Mutation Damage Score |
0.0898 |
Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.5%
- 10x: 97.8%
- 20x: 93.6%
|
Validation Efficiency |
98% (86/88) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 73 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4930432E11Rik |
G |
A |
7: 29,280,610 (GRCm39) |
|
noncoding transcript |
Het |
Adam17 |
T |
C |
12: 21,379,087 (GRCm39) |
D654G |
possibly damaging |
Het |
Ankhd1 |
A |
T |
18: 36,773,322 (GRCm39) |
H1373L |
possibly damaging |
Het |
Ankrd17 |
T |
C |
5: 90,416,656 (GRCm39) |
|
probably benign |
Het |
Calu |
A |
G |
6: 29,372,617 (GRCm39) |
D112G |
probably damaging |
Het |
Camk2a |
G |
C |
18: 61,076,272 (GRCm39) |
|
probably benign |
Het |
Cpn1 |
C |
A |
19: 43,944,951 (GRCm39) |
R452L |
probably benign |
Het |
Csmd3 |
T |
A |
15: 47,507,666 (GRCm39) |
E2780V |
probably damaging |
Het |
Ctnna2 |
T |
C |
6: 76,879,413 (GRCm39) |
T824A |
probably benign |
Het |
Cuedc2 |
C |
T |
19: 46,319,824 (GRCm39) |
V164M |
possibly damaging |
Het |
Cyp2d34 |
T |
A |
15: 82,503,243 (GRCm39) |
D74V |
probably benign |
Het |
Ddi2 |
A |
G |
4: 141,422,780 (GRCm39) |
S311P |
probably damaging |
Het |
Ddx10 |
A |
C |
9: 53,140,498 (GRCm39) |
I301R |
possibly damaging |
Het |
Dmpk |
T |
C |
7: 18,826,007 (GRCm39) |
|
probably benign |
Het |
Dnah7b |
C |
T |
1: 46,230,885 (GRCm39) |
T1381I |
probably damaging |
Het |
Dst |
T |
A |
1: 34,218,670 (GRCm39) |
N1703K |
probably damaging |
Het |
Dtwd1 |
T |
A |
2: 126,000,359 (GRCm39) |
H98Q |
probably damaging |
Het |
Ecel1 |
A |
C |
1: 87,075,731 (GRCm39) |
V769G |
probably benign |
Het |
Eno4 |
T |
C |
19: 58,935,238 (GRCm39) |
V150A |
probably benign |
Het |
Evc2 |
C |
T |
5: 37,574,883 (GRCm39) |
|
probably benign |
Het |
Ext1 |
T |
A |
15: 52,965,148 (GRCm39) |
Q406L |
possibly damaging |
Het |
Foxf2 |
A |
G |
13: 31,810,775 (GRCm39) |
H238R |
probably benign |
Het |
Frem2 |
C |
G |
3: 53,444,910 (GRCm39) |
G2407A |
probably benign |
Het |
Fzd10 |
A |
G |
5: 128,678,364 (GRCm39) |
E28G |
probably benign |
Het |
Galnt15 |
T |
C |
14: 31,774,324 (GRCm39) |
F363L |
probably damaging |
Het |
Gm1758 |
C |
T |
16: 14,325,037 (GRCm39) |
|
noncoding transcript |
Het |
Gm5866 |
C |
T |
5: 52,739,956 (GRCm39) |
|
noncoding transcript |
Het |
Heatr9 |
T |
A |
11: 83,405,426 (GRCm39) |
M345L |
probably benign |
Het |
Il23r |
A |
T |
6: 67,408,629 (GRCm39) |
F404Y |
possibly damaging |
Het |
Lrrc8a |
T |
C |
2: 30,147,148 (GRCm39) |
I654T |
probably damaging |
Het |
Napg |
A |
T |
18: 63,111,091 (GRCm39) |
K18* |
probably null |
Het |
Ndst3 |
A |
T |
3: 123,355,556 (GRCm39) |
W573R |
probably damaging |
Het |
Nin |
T |
C |
12: 70,077,692 (GRCm39) |
S1038G |
possibly damaging |
Het |
Nudt12 |
T |
A |
17: 59,317,279 (GRCm39) |
R123* |
probably null |
Het |
Oas1g |
T |
A |
5: 121,015,081 (GRCm39) |
N361Y |
probably benign |
Het |
Or5p51 |
T |
A |
7: 107,444,377 (GRCm39) |
I188L |
probably benign |
Het |
Or7a35 |
T |
A |
10: 78,853,191 (GRCm39) |
F12I |
possibly damaging |
Het |
Or8h10 |
A |
T |
2: 86,808,786 (GRCm39) |
M118K |
probably damaging |
Het |
Osbpl10 |
T |
C |
9: 115,055,828 (GRCm39) |
F667L |
probably damaging |
Het |
Phldb2 |
T |
C |
16: 45,621,988 (GRCm39) |
D664G |
probably damaging |
Het |
Piezo2 |
C |
T |
18: 63,160,972 (GRCm39) |
V2263M |
probably damaging |
Het |
Pkd1l1 |
A |
G |
11: 8,858,688 (GRCm39) |
L615P |
probably damaging |
Het |
Pnpla7 |
G |
A |
2: 24,901,661 (GRCm39) |
M562I |
probably benign |
Het |
Pou2af2 |
A |
T |
9: 51,201,672 (GRCm39) |
L128* |
probably null |
Het |
Ppp1r13b |
C |
A |
12: 111,811,423 (GRCm39) |
R155L |
probably damaging |
Het |
Pygb |
C |
T |
2: 150,628,798 (GRCm39) |
P4L |
probably benign |
Het |
Rbm44 |
T |
C |
1: 91,084,562 (GRCm39) |
|
probably null |
Het |
Rilpl2 |
T |
C |
5: 124,607,876 (GRCm39) |
T115A |
probably benign |
Het |
Rin3 |
A |
G |
12: 102,356,102 (GRCm39) |
Y801C |
probably damaging |
Het |
Rnf112 |
A |
G |
11: 61,340,273 (GRCm39) |
V619A |
probably damaging |
Het |
Rnf182 |
A |
G |
13: 43,821,563 (GRCm39) |
E38G |
probably benign |
Het |
Scgb2b24 |
T |
A |
7: 33,436,830 (GRCm39) |
Y94F |
probably damaging |
Het |
Serac1 |
C |
A |
17: 6,094,188 (GRCm39) |
|
probably benign |
Het |
Shld2 |
T |
C |
14: 33,967,215 (GRCm39) |
T114A |
probably benign |
Het |
Slc6a19 |
A |
T |
13: 73,832,487 (GRCm39) |
V402D |
probably damaging |
Het |
Slco2b1 |
T |
A |
7: 99,316,301 (GRCm39) |
M410L |
probably benign |
Het |
Smarca2 |
T |
C |
19: 26,753,469 (GRCm39) |
|
probably benign |
Het |
Sned1 |
A |
G |
1: 93,193,067 (GRCm39) |
Y409C |
probably damaging |
Het |
Sorcs2 |
A |
G |
5: 36,386,555 (GRCm39) |
V161A |
probably damaging |
Het |
Spring1 |
T |
C |
5: 118,397,504 (GRCm39) |
V162A |
probably damaging |
Het |
Sptb |
T |
C |
12: 76,645,501 (GRCm39) |
E2029G |
possibly damaging |
Het |
Stx7 |
T |
A |
10: 24,058,659 (GRCm39) |
|
probably null |
Het |
Taf4b |
T |
C |
18: 14,937,611 (GRCm39) |
V228A |
probably benign |
Het |
Tbc1d1 |
A |
G |
5: 64,507,273 (GRCm39) |
*1163W |
probably null |
Het |
Tor4a |
G |
A |
2: 25,084,847 (GRCm39) |
A352V |
probably damaging |
Het |
Trpm4 |
A |
G |
7: 44,977,173 (GRCm39) |
F81S |
probably damaging |
Het |
Ttn |
T |
A |
2: 76,780,436 (GRCm39) |
D1105V |
probably damaging |
Het |
Vcf1 |
T |
A |
11: 113,568,220 (GRCm39) |
R78S |
probably damaging |
Het |
Yju2b |
T |
A |
8: 84,985,177 (GRCm39) |
D364V |
possibly damaging |
Het |
Zfp551 |
A |
G |
7: 12,150,101 (GRCm39) |
L436P |
probably damaging |
Het |
Zfp975 |
G |
T |
7: 42,312,312 (GRCm39) |
D100E |
probably benign |
Het |
Zswim3 |
A |
G |
2: 164,662,032 (GRCm39) |
I171V |
probably benign |
Het |
Zwint |
C |
T |
10: 72,492,294 (GRCm39) |
|
probably benign |
Het |
|
Other mutations in Slco1a8 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01354:Slco1a8
|
APN |
6 |
141,936,134 (GRCm39) |
missense |
probably benign |
0.00 |
IGL01548:Slco1a8
|
APN |
6 |
141,938,238 (GRCm39) |
missense |
possibly damaging |
0.82 |
IGL01552:Slco1a8
|
APN |
6 |
141,933,432 (GRCm39) |
missense |
possibly damaging |
0.54 |
IGL02207:Slco1a8
|
APN |
6 |
141,936,158 (GRCm39) |
missense |
possibly damaging |
0.80 |
IGL02227:Slco1a8
|
APN |
6 |
141,939,401 (GRCm39) |
nonsense |
probably null |
|
IGL02547:Slco1a8
|
APN |
6 |
141,936,116 (GRCm39) |
missense |
probably damaging |
0.99 |
IGL02678:Slco1a8
|
APN |
6 |
141,954,444 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02695:Slco1a8
|
APN |
6 |
141,933,486 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02851:Slco1a8
|
APN |
6 |
141,949,197 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02881:Slco1a8
|
APN |
6 |
141,917,969 (GRCm39) |
missense |
probably benign |
0.00 |
IGL02898:Slco1a8
|
APN |
6 |
141,940,023 (GRCm39) |
missense |
probably benign |
0.01 |
IGL03036:Slco1a8
|
APN |
6 |
141,954,333 (GRCm39) |
missense |
possibly damaging |
0.69 |
IGL03065:Slco1a8
|
APN |
6 |
141,938,228 (GRCm39) |
missense |
probably damaging |
0.99 |
IGL03300:Slco1a8
|
APN |
6 |
141,940,532 (GRCm39) |
missense |
probably damaging |
0.96 |
R0020:Slco1a8
|
UTSW |
6 |
141,918,076 (GRCm39) |
missense |
possibly damaging |
0.93 |
R0020:Slco1a8
|
UTSW |
6 |
141,918,076 (GRCm39) |
missense |
possibly damaging |
0.93 |
R0049:Slco1a8
|
UTSW |
6 |
141,936,147 (GRCm39) |
missense |
probably benign |
|
R0049:Slco1a8
|
UTSW |
6 |
141,936,147 (GRCm39) |
missense |
probably benign |
|
R0149:Slco1a8
|
UTSW |
6 |
141,938,203 (GRCm39) |
missense |
probably benign |
0.01 |
R0270:Slco1a8
|
UTSW |
6 |
141,918,137 (GRCm39) |
missense |
possibly damaging |
0.88 |
R0360:Slco1a8
|
UTSW |
6 |
141,928,053 (GRCm39) |
splice site |
probably benign |
|
R0420:Slco1a8
|
UTSW |
6 |
141,931,203 (GRCm39) |
splice site |
probably benign |
|
R0737:Slco1a8
|
UTSW |
6 |
141,949,154 (GRCm39) |
missense |
possibly damaging |
0.79 |
R1344:Slco1a8
|
UTSW |
6 |
141,931,344 (GRCm39) |
missense |
probably damaging |
1.00 |
R1464:Slco1a8
|
UTSW |
6 |
141,938,243 (GRCm39) |
nonsense |
probably null |
|
R1464:Slco1a8
|
UTSW |
6 |
141,938,243 (GRCm39) |
nonsense |
probably null |
|
R1590:Slco1a8
|
UTSW |
6 |
141,926,598 (GRCm39) |
missense |
probably benign |
0.00 |
R1666:Slco1a8
|
UTSW |
6 |
141,927,775 (GRCm39) |
splice site |
probably null |
|
R1669:Slco1a8
|
UTSW |
6 |
141,933,415 (GRCm39) |
missense |
probably benign |
0.39 |
R1862:Slco1a8
|
UTSW |
6 |
141,949,149 (GRCm39) |
missense |
possibly damaging |
0.95 |
R1882:Slco1a8
|
UTSW |
6 |
141,939,363 (GRCm39) |
critical splice donor site |
probably null |
|
R2134:Slco1a8
|
UTSW |
6 |
141,926,704 (GRCm39) |
missense |
probably damaging |
1.00 |
R2155:Slco1a8
|
UTSW |
6 |
141,926,670 (GRCm39) |
missense |
probably damaging |
1.00 |
R2163:Slco1a8
|
UTSW |
6 |
141,926,664 (GRCm39) |
missense |
possibly damaging |
0.55 |
R2227:Slco1a8
|
UTSW |
6 |
141,938,087 (GRCm39) |
missense |
possibly damaging |
0.67 |
R2382:Slco1a8
|
UTSW |
6 |
141,936,206 (GRCm39) |
missense |
probably benign |
0.00 |
R3773:Slco1a8
|
UTSW |
6 |
141,918,061 (GRCm39) |
missense |
probably benign |
0.17 |
R4869:Slco1a8
|
UTSW |
6 |
141,933,492 (GRCm39) |
missense |
probably damaging |
1.00 |
R4975:Slco1a8
|
UTSW |
6 |
141,926,599 (GRCm39) |
missense |
probably benign |
0.30 |
R5061:Slco1a8
|
UTSW |
6 |
141,954,414 (GRCm39) |
missense |
probably benign |
0.03 |
R5079:Slco1a8
|
UTSW |
6 |
141,918,073 (GRCm39) |
missense |
probably benign |
0.00 |
R5312:Slco1a8
|
UTSW |
6 |
141,918,058 (GRCm39) |
missense |
probably benign |
0.00 |
R5691:Slco1a8
|
UTSW |
6 |
141,940,581 (GRCm39) |
nonsense |
probably null |
|
R5945:Slco1a8
|
UTSW |
6 |
141,940,008 (GRCm39) |
missense |
probably damaging |
1.00 |
R6478:Slco1a8
|
UTSW |
6 |
141,939,368 (GRCm39) |
missense |
possibly damaging |
0.93 |
R7305:Slco1a8
|
UTSW |
6 |
141,938,220 (GRCm39) |
missense |
probably damaging |
1.00 |
R7325:Slco1a8
|
UTSW |
6 |
141,934,951 (GRCm39) |
missense |
probably damaging |
0.98 |
R7427:Slco1a8
|
UTSW |
6 |
141,949,234 (GRCm39) |
critical splice acceptor site |
probably null |
|
R7728:Slco1a8
|
UTSW |
6 |
141,933,436 (GRCm39) |
nonsense |
probably null |
|
R7949:Slco1a8
|
UTSW |
6 |
141,939,991 (GRCm39) |
missense |
probably damaging |
1.00 |
R8079:Slco1a8
|
UTSW |
6 |
141,933,460 (GRCm39) |
missense |
probably benign |
0.00 |
R8095:Slco1a8
|
UTSW |
6 |
141,933,415 (GRCm39) |
missense |
probably benign |
0.39 |
R8472:Slco1a8
|
UTSW |
6 |
141,949,115 (GRCm39) |
missense |
probably damaging |
1.00 |
R8687:Slco1a8
|
UTSW |
6 |
141,939,991 (GRCm39) |
missense |
probably damaging |
0.98 |
R8788:Slco1a8
|
UTSW |
6 |
141,933,570 (GRCm39) |
missense |
probably benign |
0.00 |
R8869:Slco1a8
|
UTSW |
6 |
141,927,810 (GRCm39) |
missense |
probably damaging |
0.96 |
R9162:Slco1a8
|
UTSW |
6 |
141,939,453 (GRCm39) |
missense |
probably damaging |
1.00 |
R9262:Slco1a8
|
UTSW |
6 |
141,926,594 (GRCm39) |
missense |
probably damaging |
0.98 |
R9280:Slco1a8
|
UTSW |
6 |
141,939,978 (GRCm39) |
missense |
possibly damaging |
0.80 |
R9398:Slco1a8
|
UTSW |
6 |
141,940,511 (GRCm39) |
missense |
possibly damaging |
0.95 |
R9600:Slco1a8
|
UTSW |
6 |
141,949,234 (GRCm39) |
critical splice acceptor site |
probably null |
|
RF021:Slco1a8
|
UTSW |
6 |
141,954,440 (GRCm39) |
missense |
probably damaging |
0.98 |
Z1176:Slco1a8
|
UTSW |
6 |
141,936,074 (GRCm39) |
missense |
probably benign |
0.01 |
Z1177:Slco1a8
|
UTSW |
6 |
141,939,928 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Predicted Primers |
PCR Primer
(F):5'- CAGCCAATTTTATGGTAAGTGTCCAC -3'
(R):5'- GCATTTACCTTGGACTACCTGC -3'
Sequencing Primer
(F):5'- CAAGTTGACTAAGGGACACGTCTTG -3'
(R):5'- TTGGACTACCTGCAGCACTAAGAG -3'
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Posted On |
2017-02-10 |