Incidental Mutation 'R7356:Slco1a5'
| ID |
570955 |
| 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 |
045442-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.074)
|
| Stock # |
R7356 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
6 |
| Chromosomal Location |
142179953-142268707 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 142180458 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Lysine to Isoleucine
at position 648
(K648I)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000080116
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000081380]
[ENSMUST00000111825]
[ENSMUST00000153268]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000081380
AA Change: K648I
PolyPhen 2
Score 0.014 (Sensitivity: 0.96; Specificity: 0.79)
|
| SMART Domains |
Protein: ENSMUSP00000080116
Gene: ENSMUSG00000063975
AA Change: K648I
| 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 |
probably benign
Transcript: ENSMUST00000111825
AA Change: K648I
PolyPhen 2
Score 0.014 (Sensitivity: 0.96; Specificity: 0.79)
|
| SMART Domains |
Protein: ENSMUSP00000137607
Gene: ENSMUSG00000063975
AA Change: K648I
| 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: ENSMUST00000153268
|
| SMART Domains |
Protein: ENSMUSP00000124829
Gene: ENSMUSG00000063975
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:OATP
|
19 |
74 |
3.4e-16 |
PFAM |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.8%
- 20x: 99.2%
|
| Validation Efficiency |
|
| 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: 77 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acnat2 |
A |
T |
4: 49,383,507 (GRCm39) |
D15E |
probably damaging |
Het |
| Adamts16 |
G |
A |
13: 70,984,399 (GRCm39) |
T88I |
probably benign |
Het |
| Akap6 |
A |
C |
12: 52,958,647 (GRCm39) |
N801H |
probably damaging |
Het |
| Ankfn1 |
G |
T |
11: 89,325,599 (GRCm39) |
N524K |
probably damaging |
Het |
| Ap5s1 |
A |
G |
2: 131,054,582 (GRCm39) |
N131S |
probably damaging |
Het |
| Astn2 |
A |
T |
4: 66,103,503 (GRCm39) |
D303E |
unknown |
Het |
| Babam1 |
T |
C |
8: 71,852,208 (GRCm39) |
V132A |
probably benign |
Het |
| BC028528 |
CTCACTGGTTCTGTGGTCACTGGTTCTGTGGTCACTGGTTCTGTGGTCACTGGTT |
CTCACTGGTTCTGTGGTCACTGGTTCTGTGGTCACTGGTTCTGTGGTCACTGGTTCTGTGGTCACTGGTT |
3: 95,795,448 (GRCm39) |
|
probably benign |
Het |
| BC028528 |
CACTGGTT |
CACTGGTTCTATGGTGACTGGTT |
3: 95,795,495 (GRCm39) |
|
probably benign |
Het |
| BC028528 |
TCTGTGGTCACTGGT |
TCTGTGGTCACTGGTCCTGTGGTCACTGGT |
3: 95,795,487 (GRCm39) |
|
probably benign |
Het |
| BC028528 |
GGTCACTGGTTCTGT |
GGTCACTGGTTCTGTAGTCACTGGTTCTGT |
3: 95,795,477 (GRCm39) |
|
probably benign |
Het |
| BC028528 |
GTTCTGTGGTCACTGGTTCTGTGGTCACTG |
GTTCTGTGGTCACTGCTTCTGTGGTCACTGGTTCTGTGGTCACTG |
3: 95,795,470 (GRCm39) |
|
probably benign |
Het |
| BC028528 |
TGGTTCTGTGGTCACTGGTTCTGTGGTCACTGGTTCTGTGGTCAC |
TGGTTCTGTGGTCACGGGTTCTGTGGTCACTGGTTCTGTGGTCACTGGTTCTGTGGTCAC |
3: 95,795,453 (GRCm39) |
|
probably benign |
Het |
| Cnst |
C |
T |
1: 179,434,095 (GRCm39) |
P304S |
probably benign |
Het |
| Cog4 |
A |
T |
8: 111,576,498 (GRCm39) |
|
probably null |
Het |
| Cyp2j13 |
A |
T |
4: 95,965,655 (GRCm39) |
H17Q |
probably benign |
Het |
| Dock6 |
G |
A |
9: 21,721,195 (GRCm39) |
T1662I |
probably damaging |
Het |
| Dysf |
T |
C |
6: 84,044,443 (GRCm39) |
F270S |
probably damaging |
Het |
| Erbb4 |
A |
G |
1: 68,378,514 (GRCm39) |
|
probably null |
Het |
| Fam120b |
A |
T |
17: 15,627,958 (GRCm39) |
Q550L |
probably benign |
Het |
| Fam83b |
A |
T |
9: 76,400,135 (GRCm39) |
F323I |
probably benign |
Het |
| Far1 |
T |
A |
7: 113,167,349 (GRCm39) |
I478N |
possibly damaging |
Het |
| Gdpd5 |
T |
A |
7: 99,108,085 (GRCm39) |
I554N |
probably damaging |
Het |
| Glrx3 |
T |
C |
7: 137,054,453 (GRCm39) |
S79P |
probably damaging |
Het |
| Hltf |
T |
C |
3: 20,163,534 (GRCm39) |
I888T |
probably damaging |
Het |
| Hpx |
A |
G |
7: 105,240,917 (GRCm39) |
V452A |
probably damaging |
Het |
| Itk |
T |
G |
11: 46,258,659 (GRCm39) |
Q81P |
possibly damaging |
Het |
| Kdm6b |
G |
A |
11: 69,292,991 (GRCm39) |
Q1262* |
probably null |
Het |
| Lpcat2 |
T |
C |
8: 93,591,611 (GRCm39) |
V85A |
probably benign |
Het |
| Lrrk2 |
A |
T |
15: 91,622,947 (GRCm39) |
H1039L |
probably benign |
Het |
| Mapk3 |
T |
C |
7: 126,360,087 (GRCm39) |
|
probably null |
Het |
| Masp1 |
A |
T |
16: 23,288,993 (GRCm39) |
N602K |
possibly damaging |
Het |
| Myo7a |
T |
A |
7: 97,751,890 (GRCm39) |
Q40L |
probably benign |
Het |
| Nek1 |
A |
T |
8: 61,573,994 (GRCm39) |
M1081L |
probably benign |
Het |
| Nes |
T |
C |
3: 87,885,058 (GRCm39) |
S1106P |
possibly damaging |
Het |
| Nkpd1 |
A |
T |
7: 19,257,699 (GRCm39) |
I493F |
probably damaging |
Het |
| Npsr1 |
C |
G |
9: 24,009,557 (GRCm39) |
S21C |
probably benign |
Het |
| Oog1 |
G |
A |
12: 87,653,047 (GRCm39) |
|
probably null |
Het |
| Or11g1 |
G |
A |
14: 50,651,159 (GRCm39) |
V53M |
probably damaging |
Het |
| Or5g24-ps1 |
G |
A |
2: 85,463,782 (GRCm39) |
R3K |
probably benign |
Het |
| Or5k8 |
A |
T |
16: 58,644,718 (GRCm39) |
M118K |
probably damaging |
Het |
| Osbpl9 |
G |
T |
4: 108,925,677 (GRCm39) |
Y340* |
probably null |
Het |
| Pcyox1l |
A |
T |
18: 61,840,621 (GRCm39) |
L11Q |
probably null |
Het |
| Pdxdc1 |
G |
A |
16: 13,677,867 (GRCm39) |
R255C |
probably damaging |
Het |
| Pgap1 |
A |
G |
1: 54,569,293 (GRCm39) |
S358P |
probably benign |
Het |
| Pgm2l1 |
A |
G |
7: 99,917,326 (GRCm39) |
Y481C |
possibly damaging |
Het |
| Plekhf1 |
T |
C |
7: 37,921,545 (GRCm39) |
T8A |
possibly damaging |
Het |
| Plg |
G |
T |
17: 12,629,798 (GRCm39) |
G611C |
probably damaging |
Het |
| Prf1 |
A |
C |
10: 61,139,059 (GRCm39) |
D339A |
possibly damaging |
Het |
| Prph |
A |
G |
15: 98,954,807 (GRCm39) |
Y291C |
probably damaging |
Het |
| Rasal1 |
A |
G |
5: 120,792,890 (GRCm39) |
S48G |
possibly damaging |
Het |
| Rigi |
A |
G |
4: 40,226,600 (GRCm39) |
S231P |
probably benign |
Het |
| Ripk4 |
T |
A |
16: 97,544,349 (GRCm39) |
Q766L |
probably damaging |
Het |
| Scaf1 |
T |
C |
7: 44,657,208 (GRCm39) |
D557G |
unknown |
Het |
| Scaper |
A |
T |
9: 55,799,495 (GRCm39) |
M190K |
unknown |
Het |
| Scn8a |
A |
T |
15: 100,855,460 (GRCm39) |
I202F |
probably damaging |
Het |
| Siglecf |
A |
G |
7: 43,005,855 (GRCm39) |
I505V |
probably benign |
Het |
| Sirpb1c |
A |
G |
3: 15,886,297 (GRCm39) |
S360P |
probably benign |
Het |
| Sla2 |
C |
A |
2: 156,720,623 (GRCm39) |
|
probably null |
Het |
| Slc11a1 |
G |
T |
1: 74,424,648 (GRCm39) |
V544L |
probably benign |
Het |
| Sorcs1 |
T |
A |
19: 50,163,595 (GRCm39) |
I1020F |
possibly damaging |
Het |
| Spen |
C |
A |
4: 141,199,235 (GRCm39) |
E3131* |
probably null |
Het |
| Sult2a7 |
A |
T |
7: 14,211,031 (GRCm39) |
W162R |
probably damaging |
Het |
| Sult3a1 |
G |
A |
10: 33,742,579 (GRCm39) |
E69K |
probably benign |
Het |
| Tcof1 |
G |
T |
18: 60,951,166 (GRCm39) |
D1119E |
unknown |
Het |
| Tom1l2 |
A |
T |
11: 60,139,853 (GRCm39) |
I272K |
probably damaging |
Het |
| Tspan5 |
C |
T |
3: 138,448,193 (GRCm39) |
|
probably benign |
Het |
| Ttn |
A |
G |
2: 76,698,244 (GRCm39) |
L186P |
|
Het |
| Uap1l1 |
T |
C |
2: 25,251,696 (GRCm39) |
E496G |
possibly damaging |
Het |
| Ube2v1 |
A |
T |
2: 167,451,115 (GRCm39) |
I117N |
possibly damaging |
Het |
| Usp42 |
A |
G |
5: 143,702,842 (GRCm39) |
V593A |
possibly damaging |
Het |
| Virma |
T |
A |
4: 11,513,595 (GRCm39) |
I483N |
probably damaging |
Het |
| Vwde |
T |
A |
6: 13,192,641 (GRCm39) |
I421F |
probably damaging |
Het |
| Zfp345 |
G |
A |
2: 150,314,209 (GRCm39) |
H443Y |
probably damaging |
Het |
| Zfp760 |
A |
G |
17: 21,941,601 (GRCm39) |
T259A |
probably benign |
Het |
| Zfp941 |
T |
C |
7: 140,392,028 (GRCm39) |
I444V |
possibly damaging |
Het |
| Zfyve9 |
A |
C |
4: 108,576,212 (GRCm39) |
S290A |
probably benign |
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 |
|
|
R0690:Slco1a5
|
UTSW |
6 |
142,214,004 (GRCm39) |
missense |
probably benign |
0.24 |
|
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 |
|
|
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'- GAATATCTTACACTGAGTCCAGCCC -3'
(R):5'- TTAGCTCCCACTGAACACAG -3'
Sequencing Primer
(F):5'- AGTCCAGCCCTGATTTATTTTAGG -3'
(R):5'- GCTCCCACTGAACACAGTAAGATTG -3'
|
| Posted On |
2019-09-13 |
Incidental Mutation