Incidental Mutation 'R9579:Slco5a1'
ID |
722441 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Slco5a1
|
Ensembl Gene |
ENSMUSG00000025938 |
Gene Name |
solute carrier organic anion transporter family, member 5A1 |
Synonyms |
A630033C23Rik |
MMRRC Submission |
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.102)
|
Stock # |
R9579 (G1)
|
Quality Score |
198.009 |
Status
|
Not validated
|
Chromosome |
1 |
Chromosomal Location |
12936773-13062874 bp(-) (GRCm39) |
Type of Mutation |
nonsense |
DNA Base Change (assembly) |
G to T
at 12949383 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Serine to Stop codon
at position 669
(S669*)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000111062
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000115402]
[ENSMUST00000115403]
[ENSMUST00000136197]
[ENSMUST00000146763]
[ENSMUST00000147606]
[ENSMUST00000188454]
|
AlphaFold |
E9PVD9 |
Predicted Effect |
probably null
Transcript: ENSMUST00000115402
AA Change: S669*
|
SMART Domains |
Protein: ENSMUSP00000111061 Gene: ENSMUSG00000025938 AA Change: S669*
Domain | Start | End | E-Value | Type |
low complexity region
|
80 |
93 |
N/A |
INTRINSIC |
Pfam:MFS_1
|
137 |
548 |
3e-28 |
PFAM |
KAZAL
|
559 |
602 |
3.26e-2 |
SMART |
|
Predicted Effect |
probably null
Transcript: ENSMUST00000115403
AA Change: S669*
|
SMART Domains |
Protein: ENSMUSP00000111062 Gene: ENSMUSG00000025938 AA Change: S669*
Domain | Start | End | E-Value | Type |
low complexity region
|
80 |
93 |
N/A |
INTRINSIC |
Pfam:MFS_1
|
137 |
547 |
2.8e-28 |
PFAM |
KAZAL
|
559 |
602 |
3.26e-2 |
SMART |
transmembrane domain
|
737 |
759 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000136197
|
SMART Domains |
Protein: ENSMUSP00000139533 Gene: ENSMUSG00000025938
Domain | Start | End | E-Value | Type |
low complexity region
|
80 |
93 |
N/A |
INTRINSIC |
Pfam:MFS_1
|
137 |
548 |
3.6e-27 |
PFAM |
KAZAL
|
559 |
601 |
4.3e-4 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000146763
|
SMART Domains |
Protein: ENSMUSP00000139586 Gene: ENSMUSG00000025938
Domain | Start | End | E-Value | Type |
low complexity region
|
80 |
93 |
N/A |
INTRINSIC |
Pfam:OATP
|
130 |
352 |
8.4e-72 |
PFAM |
Pfam:MFS_1
|
137 |
332 |
1.6e-13 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000147606
|
SMART Domains |
Protein: ENSMUSP00000140658 Gene: ENSMUSG00000025938
Domain | Start | End | E-Value | Type |
low complexity region
|
80 |
93 |
N/A |
INTRINSIC |
Pfam:OATP
|
130 |
478 |
1.5e-105 |
PFAM |
Pfam:MFS_1
|
137 |
476 |
2.3e-24 |
PFAM |
|
Predicted Effect |
probably null
Transcript: ENSMUST00000188454
AA Change: S669*
|
SMART Domains |
Protein: ENSMUSP00000140091 Gene: ENSMUSG00000025938 AA Change: S669*
Domain | Start | End | E-Value | Type |
low complexity region
|
80 |
93 |
N/A |
INTRINSIC |
Pfam:MFS_1
|
137 |
548 |
4.1e-28 |
PFAM |
KAZAL
|
559 |
602 |
3.26e-2 |
SMART |
transmembrane domain
|
737 |
759 |
N/A |
INTRINSIC |
|
Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.6%
- 20x: 98.7%
|
Validation Efficiency |
|
MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a 12 transmembrane domain protein that is a member of the solute carrier organic anion transporter superfamily. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Mar 2009]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 41 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adam19 |
C |
A |
11: 46,009,262 (GRCm39) |
H229N |
probably benign |
Het |
Ak9 |
C |
A |
10: 41,213,576 (GRCm39) |
H260Q |
|
Het |
Akap3 |
G |
A |
6: 126,850,974 (GRCm39) |
V831I |
probably damaging |
Het |
Arhgap45 |
T |
C |
10: 79,853,843 (GRCm39) |
F119S |
probably benign |
Het |
Best3 |
A |
G |
10: 116,829,100 (GRCm39) |
T127A |
probably damaging |
Het |
Ccdc7a |
G |
A |
8: 129,774,134 (GRCm39) |
Q134* |
probably null |
Het |
Ceacam5 |
C |
A |
7: 17,479,561 (GRCm39) |
S226Y |
probably damaging |
Het |
Creb3l1 |
C |
T |
2: 91,822,231 (GRCm39) |
|
probably null |
Het |
Cul4a |
G |
A |
8: 13,186,147 (GRCm39) |
E450K |
probably damaging |
Het |
Cyb5a |
A |
T |
18: 84,891,273 (GRCm39) |
R89S |
probably benign |
Het |
Dnah2 |
A |
G |
11: 69,368,041 (GRCm39) |
L1766P |
probably damaging |
Het |
Gbp4 |
T |
C |
5: 105,270,947 (GRCm39) |
E228G |
probably damaging |
Het |
Ghr |
A |
G |
15: 3,349,612 (GRCm39) |
I522T |
probably benign |
Het |
Gm5225 |
A |
C |
17: 24,242,897 (GRCm39) |
H22P |
possibly damaging |
Het |
Herc2 |
T |
A |
7: 55,758,500 (GRCm39) |
C796S |
probably damaging |
Het |
Hmgxb4 |
G |
T |
8: 75,756,638 (GRCm39) |
A588S |
probably damaging |
Het |
Lats2 |
G |
A |
14: 57,937,191 (GRCm39) |
P433S |
probably damaging |
Het |
Lrfn1 |
C |
T |
7: 28,166,769 (GRCm39) |
T721I |
probably damaging |
Het |
Matcap1 |
A |
T |
8: 106,012,379 (GRCm39) |
S23T |
probably benign |
Het |
Mpzl3 |
G |
A |
9: 44,973,350 (GRCm39) |
V30I |
probably benign |
Het |
Or2r3 |
A |
T |
6: 42,448,574 (GRCm39) |
C179* |
probably null |
Het |
Pcdh15 |
A |
G |
10: 74,457,117 (GRCm39) |
Y1298C |
possibly damaging |
Het |
Plcd4 |
C |
A |
1: 74,596,948 (GRCm39) |
H397N |
probably benign |
Het |
Pnn |
G |
A |
12: 59,117,030 (GRCm39) |
A201T |
possibly damaging |
Het |
Ptprd |
C |
G |
4: 75,872,315 (GRCm39) |
A1134P |
possibly damaging |
Het |
Rabl3 |
T |
C |
16: 37,362,230 (GRCm39) |
V23A |
probably damaging |
Het |
Rnf157 |
T |
C |
11: 116,240,822 (GRCm39) |
N423S |
probably benign |
Het |
Rtn1 |
T |
C |
12: 72,270,289 (GRCm39) |
D601G |
probably damaging |
Het |
Rxfp1 |
A |
G |
3: 79,557,946 (GRCm39) |
Y511H |
probably damaging |
Het |
Sema5b |
T |
C |
16: 35,467,582 (GRCm39) |
M282T |
probably benign |
Het |
Sphkap |
C |
G |
1: 83,255,295 (GRCm39) |
G818A |
probably damaging |
Het |
Stk26 |
C |
T |
X: 49,930,618 (GRCm39) |
|
probably benign |
Het |
Syne3 |
T |
C |
12: 104,942,107 (GRCm39) |
S12G |
probably damaging |
Het |
Tmem150a |
C |
A |
6: 72,334,070 (GRCm39) |
Q51K |
probably benign |
Het |
Ttn |
C |
T |
2: 76,550,196 (GRCm39) |
D31662N |
probably damaging |
Het |
Ttn |
C |
T |
2: 76,578,602 (GRCm39) |
G24097D |
probably damaging |
Het |
Tubb4b |
T |
C |
2: 25,114,139 (GRCm39) |
T55A |
probably benign |
Het |
Vcan |
A |
T |
13: 89,837,713 (GRCm39) |
D2610E |
possibly damaging |
Het |
Xkr5 |
T |
C |
8: 18,983,785 (GRCm39) |
T586A |
probably benign |
Het |
Zfp260 |
T |
C |
7: 29,805,108 (GRCm39) |
F336S |
|
Het |
Zic1 |
A |
G |
9: 91,246,790 (GRCm39) |
F94S |
probably damaging |
Het |
|
Other mutations in Slco5a1 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL02264:Slco5a1
|
APN |
1 |
12,942,219 (GRCm39) |
missense |
probably benign |
0.01 |
IGL02330:Slco5a1
|
APN |
1 |
13,009,284 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02660:Slco5a1
|
APN |
1 |
13,059,860 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02904:Slco5a1
|
APN |
1 |
12,991,321 (GRCm39) |
missense |
probably damaging |
0.98 |
IGL02972:Slco5a1
|
APN |
1 |
13,060,379 (GRCm39) |
nonsense |
probably null |
|
IGL03100:Slco5a1
|
APN |
1 |
12,949,504 (GRCm39) |
missense |
possibly damaging |
0.67 |
IGL03270:Slco5a1
|
APN |
1 |
12,942,252 (GRCm39) |
missense |
probably benign |
|
R0969:Slco5a1
|
UTSW |
1 |
13,060,116 (GRCm39) |
missense |
probably damaging |
1.00 |
R1337:Slco5a1
|
UTSW |
1 |
13,009,366 (GRCm39) |
missense |
probably benign |
0.01 |
R1434:Slco5a1
|
UTSW |
1 |
12,942,132 (GRCm39) |
missense |
probably benign |
0.00 |
R1627:Slco5a1
|
UTSW |
1 |
13,060,607 (GRCm39) |
missense |
probably damaging |
1.00 |
R1767:Slco5a1
|
UTSW |
1 |
13,059,839 (GRCm39) |
missense |
probably damaging |
1.00 |
R1893:Slco5a1
|
UTSW |
1 |
12,964,696 (GRCm39) |
missense |
probably damaging |
1.00 |
R1894:Slco5a1
|
UTSW |
1 |
12,942,483 (GRCm39) |
missense |
probably damaging |
1.00 |
R2301:Slco5a1
|
UTSW |
1 |
12,949,486 (GRCm39) |
missense |
probably damaging |
0.98 |
R2302:Slco5a1
|
UTSW |
1 |
12,949,486 (GRCm39) |
missense |
probably damaging |
0.98 |
R2303:Slco5a1
|
UTSW |
1 |
12,949,486 (GRCm39) |
missense |
probably damaging |
0.98 |
R2304:Slco5a1
|
UTSW |
1 |
12,949,486 (GRCm39) |
missense |
probably damaging |
0.98 |
R2349:Slco5a1
|
UTSW |
1 |
12,991,376 (GRCm39) |
missense |
probably damaging |
1.00 |
R2351:Slco5a1
|
UTSW |
1 |
13,060,158 (GRCm39) |
missense |
probably benign |
0.05 |
R3079:Slco5a1
|
UTSW |
1 |
12,949,486 (GRCm39) |
missense |
probably damaging |
0.98 |
R3949:Slco5a1
|
UTSW |
1 |
13,059,833 (GRCm39) |
missense |
probably damaging |
1.00 |
R4197:Slco5a1
|
UTSW |
1 |
12,964,740 (GRCm39) |
missense |
probably damaging |
1.00 |
R4380:Slco5a1
|
UTSW |
1 |
13,009,392 (GRCm39) |
missense |
probably damaging |
0.96 |
R4532:Slco5a1
|
UTSW |
1 |
12,949,447 (GRCm39) |
missense |
probably damaging |
1.00 |
R4750:Slco5a1
|
UTSW |
1 |
12,949,504 (GRCm39) |
missense |
probably damaging |
1.00 |
R5891:Slco5a1
|
UTSW |
1 |
13,060,626 (GRCm39) |
missense |
probably benign |
0.04 |
R6024:Slco5a1
|
UTSW |
1 |
13,014,294 (GRCm39) |
missense |
probably damaging |
1.00 |
R6332:Slco5a1
|
UTSW |
1 |
12,991,409 (GRCm39) |
missense |
probably benign |
0.27 |
R6492:Slco5a1
|
UTSW |
1 |
13,060,151 (GRCm39) |
missense |
probably damaging |
1.00 |
R6860:Slco5a1
|
UTSW |
1 |
12,951,420 (GRCm39) |
intron |
probably benign |
|
R6994:Slco5a1
|
UTSW |
1 |
12,951,617 (GRCm39) |
missense |
probably damaging |
1.00 |
R7121:Slco5a1
|
UTSW |
1 |
13,060,661 (GRCm39) |
missense |
probably benign |
0.00 |
R7747:Slco5a1
|
UTSW |
1 |
13,060,346 (GRCm39) |
missense |
probably benign |
0.05 |
R7802:Slco5a1
|
UTSW |
1 |
13,060,700 (GRCm39) |
missense |
possibly damaging |
0.76 |
R7895:Slco5a1
|
UTSW |
1 |
13,059,927 (GRCm39) |
missense |
possibly damaging |
0.52 |
R7984:Slco5a1
|
UTSW |
1 |
12,951,608 (GRCm39) |
missense |
probably damaging |
1.00 |
R8172:Slco5a1
|
UTSW |
1 |
13,060,490 (GRCm39) |
nonsense |
probably null |
|
R8536:Slco5a1
|
UTSW |
1 |
12,951,525 (GRCm39) |
missense |
possibly damaging |
0.69 |
R9052:Slco5a1
|
UTSW |
1 |
13,060,397 (GRCm39) |
missense |
possibly damaging |
0.62 |
R9208:Slco5a1
|
UTSW |
1 |
13,059,802 (GRCm39) |
critical splice donor site |
probably null |
|
RF010:Slco5a1
|
UTSW |
1 |
12,942,171 (GRCm39) |
missense |
probably damaging |
1.00 |
X0065:Slco5a1
|
UTSW |
1 |
12,942,436 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Predicted Primers |
PCR Primer
(F):5'- GAATAGACAGTATTTCAGCCATCC -3'
(R):5'- AGTGTACCTGTGTCCAAAGCC -3'
Sequencing Primer
(F):5'- AGACAGTATTTCAGCCATCCTTTTC -3'
(R):5'- CTGTGTCCAAAGCCGACAAGTG -3'
|
Posted On |
2022-08-09 |