Incidental Mutation 'R0690:Slco1a5'
| ID |
61337 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Slco1a5
|
| Ensembl Gene |
ENSMUSG00000063975 |
| Gene Name |
solute carrier organic anion transporter family, member 1a5 |
| Synonyms |
Slc21a7, Oatp3 |
| MMRRC Submission |
038875-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.074)
|
| Stock # |
R0690 (G1)
|
| Quality Score |
161 |
|
Status
|
Validated
|
| Chromosome |
6 |
| Chromosomal Location |
142179953-142268707 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 142214004 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Phenylalanine
at position 39
(Y39F)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000124829
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000081380]
[ENSMUST00000111825]
[ENSMUST00000128446]
[ENSMUST00000153268]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000081380
AA Change: Y39F
PolyPhen 2
Score 0.065 (Sensitivity: 0.94; Specificity: 0.84)
|
| SMART Domains |
Protein: ENSMUSP00000080116
Gene: ENSMUSG00000063975
AA Change: Y39F
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:MFS_1
|
22 |
420 |
4.3e-30 |
PFAM |
|
KAZAL
|
438 |
486 |
2.18e0 |
SMART |
|
transmembrane domain
|
600 |
622 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000111822
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000111825
AA Change: Y39F
PolyPhen 2
Score 0.065 (Sensitivity: 0.94; Specificity: 0.84)
|
| SMART Domains |
Protein: ENSMUSP00000137607
Gene: ENSMUSG00000063975
AA Change: Y39F
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:MFS_1
|
22 |
420 |
5.8e-30 |
PFAM |
|
KAZAL
|
438 |
486 |
2.18e0 |
SMART |
|
transmembrane domain
|
600 |
622 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000128446
|
| SMART Domains |
Protein: ENSMUSP00000124987
Gene: ENSMUSG00000063975
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:OATP
|
1 |
157 |
6.1e-67 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000153268
AA Change: Y39F
PolyPhen 2
Score 0.244 (Sensitivity: 0.91; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000124829
Gene: ENSMUSG00000063975
AA Change: Y39F
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:OATP
|
19 |
74 |
3.4e-16 |
PFAM |
|
| Meta Mutation Damage Score |
0.1359 |
| Coding Region Coverage |
- 1x: 99.4%
- 3x: 98.9%
- 10x: 97.7%
- 20x: 96.1%
|
| Validation Efficiency |
97% (87/90) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a sodium-independent transporter which mediates cellular uptake of organic ions in the liver. Its substrates include bile acids, bromosulphophthalein, and some steroidal compounds. The protein is a member of the SLC21A family of solute carriers. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, Dec 2008]
PHENOTYPE: Homozygous mutation of this gene results in decreased percentage of CD8 ells and increased percentage of B cells in the peripheral blood. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 85 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca8b |
T |
A |
11: 109,860,634 (GRCm39) |
|
probably benign |
Het |
| Abi3 |
T |
C |
11: 95,724,460 (GRCm39) |
|
probably benign |
Het |
| Adam2 |
T |
C |
14: 66,295,095 (GRCm39) |
N250S |
probably damaging |
Het |
| Agbl4 |
T |
A |
4: 111,514,585 (GRCm39) |
I532K |
probably benign |
Het |
| Agrn |
T |
G |
4: 156,258,910 (GRCm39) |
E905A |
probably damaging |
Het |
| Ahi1 |
A |
G |
10: 20,846,742 (GRCm39) |
|
probably benign |
Het |
| Aifm2 |
A |
G |
10: 61,562,231 (GRCm39) |
N89S |
probably benign |
Het |
| Arsj |
C |
T |
3: 126,231,833 (GRCm39) |
T193I |
probably damaging |
Het |
| Ascc2 |
T |
A |
11: 4,632,933 (GRCm39) |
V702E |
probably damaging |
Het |
| Avpr1b |
T |
C |
1: 131,528,019 (GRCm39) |
S181P |
probably damaging |
Het |
| Bcl7a |
G |
A |
5: 123,490,003 (GRCm39) |
V56I |
possibly damaging |
Het |
| Cd160 |
T |
A |
3: 96,713,102 (GRCm39) |
D54V |
probably damaging |
Het |
| Celsr2 |
C |
A |
3: 108,322,293 (GRCm39) |
R173M |
probably damaging |
Het |
| Cfap57 |
A |
G |
4: 118,426,924 (GRCm39) |
|
probably benign |
Het |
| Cfap69 |
G |
A |
5: 5,713,951 (GRCm39) |
T27I |
probably damaging |
Het |
| Chaf1b |
T |
C |
16: 93,696,905 (GRCm39) |
|
probably benign |
Het |
| Cldn8 |
C |
T |
16: 88,359,527 (GRCm39) |
V133M |
probably damaging |
Het |
| Col2a1 |
A |
T |
15: 97,878,073 (GRCm39) |
V954E |
unknown |
Het |
| Col6a4 |
T |
C |
9: 105,905,386 (GRCm39) |
|
probably benign |
Het |
| Col6a6 |
T |
C |
9: 105,586,685 (GRCm39) |
M1779V |
probably benign |
Het |
| Coq8b |
A |
G |
7: 26,941,674 (GRCm39) |
E253G |
probably benign |
Het |
| Ctse |
T |
C |
1: 131,602,516 (GRCm39) |
|
probably benign |
Het |
| Cyp2c29 |
T |
A |
19: 39,298,170 (GRCm39) |
N238K |
probably benign |
Het |
| Dcaf1 |
T |
A |
9: 106,723,848 (GRCm39) |
|
probably benign |
Het |
| Dcc |
A |
T |
18: 71,942,275 (GRCm39) |
|
probably benign |
Het |
| Dkk1 |
A |
G |
19: 30,526,745 (GRCm39) |
F12S |
probably benign |
Het |
| Dnah6 |
A |
G |
6: 73,106,457 (GRCm39) |
V1760A |
probably benign |
Het |
| Fam117b |
G |
A |
1: 59,997,512 (GRCm39) |
S288N |
possibly damaging |
Het |
| Fam216a |
A |
T |
5: 122,505,709 (GRCm39) |
M110K |
probably damaging |
Het |
| Frem3 |
T |
A |
8: 81,340,581 (GRCm39) |
I958N |
possibly damaging |
Het |
| Gab1 |
T |
A |
8: 81,526,745 (GRCm39) |
N118Y |
probably damaging |
Het |
| Gda |
T |
A |
19: 21,387,251 (GRCm39) |
I251L |
probably benign |
Het |
| Gli2 |
C |
A |
1: 118,772,190 (GRCm39) |
R505L |
probably damaging |
Het |
| Gm5093 |
A |
T |
17: 46,750,664 (GRCm39) |
I121N |
possibly damaging |
Het |
| Gpnmb |
C |
T |
6: 49,024,949 (GRCm39) |
S327L |
probably benign |
Het |
| Gpr156 |
T |
A |
16: 37,812,503 (GRCm39) |
Y280N |
probably damaging |
Het |
| Gria4 |
A |
G |
9: 4,427,071 (GRCm39) |
Y790H |
probably damaging |
Het |
| Guf1 |
C |
A |
5: 69,723,695 (GRCm39) |
|
probably null |
Het |
| H6pd |
T |
C |
4: 150,067,030 (GRCm39) |
E452G |
possibly damaging |
Het |
| Herc1 |
T |
A |
9: 66,294,120 (GRCm39) |
Y487* |
probably null |
Het |
| Ifi30 |
T |
A |
8: 71,217,593 (GRCm39) |
|
probably benign |
Het |
| Klf13 |
G |
A |
7: 63,587,819 (GRCm39) |
A159V |
possibly damaging |
Het |
| Med11 |
T |
A |
11: 70,344,052 (GRCm39) |
M124K |
possibly damaging |
Het |
| Myom3 |
A |
G |
4: 135,515,737 (GRCm39) |
|
probably benign |
Het |
| Nat2 |
A |
T |
8: 67,954,456 (GRCm39) |
I189F |
probably damaging |
Het |
| Nhlrc4 |
C |
G |
17: 26,162,658 (GRCm39) |
G30R |
probably damaging |
Het |
| Nkx3-2 |
G |
A |
5: 41,919,470 (GRCm39) |
R173C |
probably damaging |
Het |
| Nox3 |
T |
C |
17: 3,745,839 (GRCm39) |
N23S |
probably damaging |
Het |
| Npr2 |
A |
T |
4: 43,646,991 (GRCm39) |
Y708F |
probably damaging |
Het |
| Nsun2 |
A |
G |
13: 69,777,661 (GRCm39) |
N409S |
probably benign |
Het |
| Nucb2 |
T |
C |
7: 116,135,086 (GRCm39) |
|
probably benign |
Het |
| Or13a26 |
T |
C |
7: 140,284,700 (GRCm39) |
F179L |
possibly damaging |
Het |
| Or5be3 |
A |
G |
2: 86,864,226 (GRCm39) |
F113S |
probably damaging |
Het |
| Or8b12 |
T |
C |
9: 37,657,513 (GRCm39) |
F28L |
probably benign |
Het |
| Orai2 |
A |
T |
5: 136,190,453 (GRCm39) |
V52D |
probably damaging |
Het |
| Pcyox1 |
A |
T |
6: 86,371,424 (GRCm39) |
M154K |
probably damaging |
Het |
| Pik3r4 |
C |
A |
9: 105,531,175 (GRCm39) |
T492K |
possibly damaging |
Het |
| Pmpca |
T |
A |
2: 26,281,109 (GRCm39) |
Y150N |
probably damaging |
Het |
| Ppp1r12b |
G |
T |
1: 134,803,820 (GRCm39) |
S446R |
probably damaging |
Het |
| Ptpdc1 |
A |
G |
13: 48,740,381 (GRCm39) |
I289T |
probably benign |
Het |
| Pyroxd2 |
A |
G |
19: 42,716,081 (GRCm39) |
|
probably benign |
Het |
| Qrfpr |
G |
A |
3: 36,243,708 (GRCm39) |
T131M |
probably damaging |
Het |
| Rab33b |
A |
G |
3: 51,400,838 (GRCm39) |
Y104C |
probably damaging |
Het |
| Rad54l |
G |
T |
4: 115,956,947 (GRCm39) |
|
probably benign |
Het |
| Rad9a |
A |
T |
19: 4,247,359 (GRCm39) |
|
probably null |
Het |
| Slc1a5 |
A |
T |
7: 16,520,829 (GRCm39) |
M233L |
probably benign |
Het |
| Slc47a2 |
C |
T |
11: 61,233,330 (GRCm39) |
V67I |
possibly damaging |
Het |
| Slfn5 |
T |
C |
11: 82,852,229 (GRCm39) |
V785A |
probably damaging |
Het |
| Sp6 |
C |
T |
11: 96,912,370 (GRCm39) |
P28S |
possibly damaging |
Het |
| Sptbn5 |
A |
G |
2: 119,893,156 (GRCm39) |
|
probably null |
Het |
| Sry |
ACTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTG |
ACTGCTGCTGCTGCTGCTGCTGCTGCTGCTG |
Y: 2,662,944 (GRCm39) |
|
probably benign |
Het |
| St8sia1 |
A |
G |
6: 142,774,980 (GRCm39) |
W200R |
probably damaging |
Het |
| Stxbp1 |
C |
A |
2: 32,690,707 (GRCm39) |
|
probably benign |
Het |
| Syne1 |
A |
G |
10: 4,983,138 (GRCm39) |
|
probably benign |
Het |
| Thbs3 |
T |
A |
3: 89,127,472 (GRCm39) |
I371N |
possibly damaging |
Het |
| Tll1 |
C |
T |
8: 64,527,324 (GRCm39) |
S399N |
probably damaging |
Het |
| Tmem209 |
A |
C |
6: 30,505,833 (GRCm39) |
C114G |
probably null |
Het |
| Tmem25 |
C |
T |
9: 44,706,811 (GRCm39) |
|
probably benign |
Het |
| Tmem8b |
T |
C |
4: 43,674,562 (GRCm39) |
I282T |
possibly damaging |
Het |
| Trdmt1 |
T |
A |
2: 13,549,391 (GRCm39) |
H18L |
probably benign |
Het |
| Trim63 |
A |
G |
4: 134,043,716 (GRCm39) |
T60A |
probably benign |
Het |
| Trpv2 |
T |
C |
11: 62,475,502 (GRCm39) |
|
probably null |
Het |
| Ubr2 |
A |
T |
17: 47,249,579 (GRCm39) |
I1591K |
probably damaging |
Het |
| Use1 |
A |
T |
8: 71,819,709 (GRCm39) |
|
probably benign |
Het |
| Zfp850 |
A |
T |
7: 27,684,642 (GRCm39) |
C35S |
possibly damaging |
Het |
|
| Other mutations in Slco1a5 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01304:Slco1a5
|
APN |
6 |
142,187,876 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL01432:Slco1a5
|
APN |
6 |
142,182,012 (GRCm39) |
missense |
possibly damaging |
0.59 |
|
IGL01590:Slco1a5
|
APN |
6 |
142,196,045 (GRCm39) |
missense |
probably benign |
0.01 |
|
IGL01824:Slco1a5
|
APN |
6 |
142,198,763 (GRCm39) |
missense |
probably benign |
0.01 |
|
IGL01915:Slco1a5
|
APN |
6 |
142,189,599 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL01945:Slco1a5
|
APN |
6 |
142,189,715 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
IGL02078:Slco1a5
|
APN |
6 |
142,200,172 (GRCm39) |
missense |
probably benign |
0.30 |
|
IGL02178:Slco1a5
|
APN |
6 |
142,208,414 (GRCm39) |
nonsense |
probably null |
|
|
IGL02366:Slco1a5
|
APN |
6 |
142,195,941 (GRCm39) |
missense |
possibly damaging |
0.57 |
|
IGL02395:Slco1a5
|
APN |
6 |
142,221,213 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL02621:Slco1a5
|
APN |
6 |
142,187,741 (GRCm39) |
missense |
probably benign |
0.10 |
|
IGL02752:Slco1a5
|
APN |
6 |
142,208,438 (GRCm39) |
missense |
probably benign |
0.07 |
|
IGL02940:Slco1a5
|
APN |
6 |
142,187,731 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03065:Slco1a5
|
APN |
6 |
142,194,569 (GRCm39) |
splice site |
probably benign |
|
|
IGL03377:Slco1a5
|
APN |
6 |
142,180,492 (GRCm39) |
missense |
probably benign |
0.01 |
|
R0017:Slco1a5
|
UTSW |
6 |
142,182,061 (GRCm39) |
splice site |
probably benign |
|
|
R0017:Slco1a5
|
UTSW |
6 |
142,182,061 (GRCm39) |
splice site |
probably benign |
|
|
R0230:Slco1a5
|
UTSW |
6 |
142,182,054 (GRCm39) |
splice site |
probably benign |
|
|
R1217:Slco1a5
|
UTSW |
6 |
142,200,100 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R1900:Slco1a5
|
UTSW |
6 |
142,187,789 (GRCm39) |
missense |
probably benign |
0.44 |
|
R2084:Slco1a5
|
UTSW |
6 |
142,180,437 (GRCm39) |
missense |
probably benign |
0.32 |
|
R2393:Slco1a5
|
UTSW |
6 |
142,194,501 (GRCm39) |
missense |
possibly damaging |
0.85 |
|
R2414:Slco1a5
|
UTSW |
6 |
142,181,976 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2760:Slco1a5
|
UTSW |
6 |
142,195,997 (GRCm39) |
missense |
probably benign |
0.00 |
|
R3420:Slco1a5
|
UTSW |
6 |
142,213,964 (GRCm39) |
missense |
possibly damaging |
0.61 |
|
R3421:Slco1a5
|
UTSW |
6 |
142,213,964 (GRCm39) |
missense |
possibly damaging |
0.61 |
|
R3827:Slco1a5
|
UTSW |
6 |
142,198,975 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R3963:Slco1a5
|
UTSW |
6 |
142,194,370 (GRCm39) |
critical splice donor site |
probably null |
|
|
R3977:Slco1a5
|
UTSW |
6 |
142,204,698 (GRCm39) |
splice site |
probably benign |
|
|
R4074:Slco1a5
|
UTSW |
6 |
142,213,950 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
R4075:Slco1a5
|
UTSW |
6 |
142,213,950 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
R4076:Slco1a5
|
UTSW |
6 |
142,213,950 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
R4782:Slco1a5
|
UTSW |
6 |
142,194,533 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
R4799:Slco1a5
|
UTSW |
6 |
142,194,533 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
R4831:Slco1a5
|
UTSW |
6 |
142,180,431 (GRCm39) |
missense |
probably benign |
|
|
R5038:Slco1a5
|
UTSW |
6 |
142,212,090 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5038:Slco1a5
|
UTSW |
6 |
142,208,363 (GRCm39) |
missense |
probably benign |
0.01 |
|
R5063:Slco1a5
|
UTSW |
6 |
142,204,791 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5273:Slco1a5
|
UTSW |
6 |
142,187,824 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5436:Slco1a5
|
UTSW |
6 |
142,200,118 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5579:Slco1a5
|
UTSW |
6 |
142,187,851 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R5602:Slco1a5
|
UTSW |
6 |
142,221,255 (GRCm39) |
start gained |
probably benign |
|
|
R5643:Slco1a5
|
UTSW |
6 |
142,183,320 (GRCm39) |
splice site |
probably null |
|
|
R5644:Slco1a5
|
UTSW |
6 |
142,183,320 (GRCm39) |
splice site |
probably null |
|
|
R5686:Slco1a5
|
UTSW |
6 |
142,182,033 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5699:Slco1a5
|
UTSW |
6 |
142,194,542 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R5792:Slco1a5
|
UTSW |
6 |
142,187,839 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5938:Slco1a5
|
UTSW |
6 |
142,194,443 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R5997:Slco1a5
|
UTSW |
6 |
142,198,839 (GRCm39) |
missense |
probably benign |
0.19 |
|
R6146:Slco1a5
|
UTSW |
6 |
142,180,534 (GRCm39) |
missense |
probably benign |
|
|
R6377:Slco1a5
|
UTSW |
6 |
142,187,906 (GRCm39) |
splice site |
probably null |
|
|
R6466:Slco1a5
|
UTSW |
6 |
142,183,260 (GRCm39) |
missense |
probably benign |
0.01 |
|
R6523:Slco1a5
|
UTSW |
6 |
142,212,121 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7092:Slco1a5
|
UTSW |
6 |
142,194,401 (GRCm39) |
missense |
probably benign |
|
|
R7207:Slco1a5
|
UTSW |
6 |
142,194,475 (GRCm39) |
nonsense |
probably null |
|
|
R7356:Slco1a5
|
UTSW |
6 |
142,180,458 (GRCm39) |
missense |
probably benign |
0.01 |
|
R7430:Slco1a5
|
UTSW |
6 |
142,194,438 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7445:Slco1a5
|
UTSW |
6 |
142,204,734 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R7499:Slco1a5
|
UTSW |
6 |
142,208,257 (GRCm39) |
splice site |
probably null |
|
|
R7579:Slco1a5
|
UTSW |
6 |
142,221,207 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8117:Slco1a5
|
UTSW |
6 |
142,208,418 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8209:Slco1a5
|
UTSW |
6 |
142,208,408 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8217:Slco1a5
|
UTSW |
6 |
142,221,202 (GRCm39) |
missense |
probably benign |
0.13 |
|
R8358:Slco1a5
|
UTSW |
6 |
142,208,411 (GRCm39) |
missense |
probably benign |
0.45 |
|
R8710:Slco1a5
|
UTSW |
6 |
142,198,828 (GRCm39) |
missense |
probably benign |
0.03 |
|
R9071:Slco1a5
|
UTSW |
6 |
142,196,052 (GRCm39) |
missense |
possibly damaging |
0.50 |
|
R9316:Slco1a5
|
UTSW |
6 |
142,195,935 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R9427:Slco1a5
|
UTSW |
6 |
142,214,001 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R9619:Slco1a5
|
UTSW |
6 |
142,198,846 (GRCm39) |
missense |
probably benign |
0.13 |
|
| Predicted Primers |
PCR Primer
(F):5'- TGCCAAGGAAAACCCTTAGCTTCTC -3'
(R):5'- ATGTCCTGAGTGAGCACAGCATGG -3'
Sequencing Primer
(F):5'- TCTGCCACTTGTCAGAAAAAGG -3'
(R):5'- CATGGCAGAGCAGAGATTACAC -3'
|
| Posted On |
2013-07-30 |
Incidental Mutation