Incidental Mutation 'R1627:Slco5a1'
ID |
172533 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Slco5a1
|
Ensembl Gene |
ENSMUSG00000025938 |
Gene Name |
solute carrier organic anion transporter family, member 5A1 |
Synonyms |
A630033C23Rik |
MMRRC Submission |
039664-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.082)
|
Stock # |
R1627 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
1 |
Chromosomal Location |
12936773-13062874 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
G to C
at 13060607 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Proline to Arginine
at position 38
(P38R)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000140091
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000115402]
[ENSMUST00000115403]
[ENSMUST00000136197]
[ENSMUST00000146763]
[ENSMUST00000147606]
[ENSMUST00000188454]
|
AlphaFold |
E9PVD9 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000115402
AA Change: P38R
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000111061 Gene: ENSMUSG00000025938 AA Change: P38R
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 damaging
Transcript: ENSMUST00000115403
AA Change: P38R
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000111062 Gene: ENSMUSG00000025938 AA Change: P38R
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 damaging
Transcript: ENSMUST00000136197
AA Change: P38R
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000139533 Gene: ENSMUSG00000025938 AA Change: P38R
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 damaging
Transcript: ENSMUST00000146763
AA Change: P38R
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000139586 Gene: ENSMUSG00000025938 AA Change: P38R
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 damaging
Transcript: ENSMUST00000147606
AA Change: P38R
PolyPhen 2
Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
|
SMART Domains |
Protein: ENSMUSP00000140658 Gene: ENSMUSG00000025938 AA Change: P38R
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 damaging
Transcript: ENSMUST00000188454
AA Change: P38R
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000140091 Gene: ENSMUSG00000025938 AA Change: P38R
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 |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000191566
|
Coding Region Coverage |
- 1x: 99.0%
- 3x: 98.0%
- 10x: 95.3%
- 20x: 89.0%
|
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: 40 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abcg3 |
A |
G |
5: 105,083,880 (GRCm39) |
M630T |
probably benign |
Het |
Anpep |
T |
C |
7: 79,491,759 (GRCm39) |
I81V |
probably benign |
Het |
Bub1 |
A |
G |
2: 127,650,933 (GRCm39) |
S627P |
probably benign |
Het |
C1s1 |
T |
A |
6: 124,514,439 (GRCm39) |
N139I |
probably damaging |
Het |
Car6 |
A |
T |
4: 150,277,035 (GRCm39) |
V152D |
probably damaging |
Het |
Cdh19 |
C |
A |
1: 110,847,375 (GRCm39) |
M411I |
probably benign |
Het |
Cep95 |
A |
G |
11: 106,700,531 (GRCm39) |
E322G |
probably damaging |
Het |
Chek1 |
C |
A |
9: 36,625,737 (GRCm39) |
V303L |
probably benign |
Het |
Dctn1 |
T |
A |
6: 83,172,064 (GRCm39) |
I818N |
probably damaging |
Het |
Dscaml1 |
T |
C |
9: 45,664,445 (GRCm39) |
S2107P |
probably damaging |
Het |
Dusp14 |
A |
G |
11: 83,939,597 (GRCm39) |
I148T |
probably damaging |
Het |
Eps15 |
A |
G |
4: 109,227,754 (GRCm39) |
D645G |
probably damaging |
Het |
Etl4 |
A |
G |
2: 20,806,390 (GRCm39) |
N1153S |
possibly damaging |
Het |
Fer1l6 |
A |
G |
15: 58,513,728 (GRCm39) |
D1541G |
probably benign |
Het |
Gm14496 |
A |
G |
2: 181,640,571 (GRCm39) |
S513G |
probably damaging |
Het |
H2-D1 |
G |
T |
17: 35,482,471 (GRCm39) |
A64S |
possibly damaging |
Het |
Hsd17b2 |
T |
A |
8: 118,428,909 (GRCm39) |
F59I |
possibly damaging |
Het |
Itgb7 |
T |
G |
15: 102,131,911 (GRCm39) |
Q224P |
probably damaging |
Het |
Jak1 |
A |
G |
4: 101,048,821 (GRCm39) |
|
probably null |
Het |
Kdm1b |
G |
A |
13: 47,217,707 (GRCm39) |
|
probably null |
Het |
Lrp8 |
A |
G |
4: 107,711,613 (GRCm39) |
I466V |
probably damaging |
Het |
Mga |
A |
G |
2: 119,795,043 (GRCm39) |
D2909G |
probably damaging |
Het |
Nol8 |
T |
C |
13: 49,814,980 (GRCm39) |
S345P |
probably benign |
Het |
Nup210l |
T |
C |
3: 90,051,476 (GRCm39) |
M540T |
probably benign |
Het |
Obscn |
C |
T |
11: 59,003,464 (GRCm39) |
R1370H |
probably benign |
Het |
Or2ad1 |
A |
G |
13: 21,327,125 (GRCm39) |
F34S |
probably damaging |
Het |
Pbx3 |
A |
G |
2: 34,065,965 (GRCm39) |
V375A |
probably benign |
Het |
Ppp1r9a |
T |
C |
6: 4,906,168 (GRCm39) |
V241A |
possibly damaging |
Het |
Psmd6 |
C |
T |
14: 14,112,539 (GRCm38) |
V354M |
probably damaging |
Het |
Rab2a |
T |
C |
4: 8,578,481 (GRCm39) |
F94L |
probably damaging |
Het |
Rev1 |
T |
C |
1: 38,094,571 (GRCm39) |
D949G |
probably damaging |
Het |
Ric8a |
A |
G |
7: 140,438,091 (GRCm39) |
D110G |
probably damaging |
Het |
Rlf |
A |
T |
4: 121,007,197 (GRCm39) |
D594E |
probably benign |
Het |
Septin1 |
C |
A |
7: 126,817,230 (GRCm39) |
|
probably null |
Het |
Snx33 |
C |
A |
9: 56,833,241 (GRCm39) |
R276L |
probably damaging |
Het |
Taf11 |
A |
T |
17: 28,124,253 (GRCm39) |
D101E |
probably benign |
Het |
Ttn |
A |
G |
2: 76,764,564 (GRCm39) |
S3168P |
probably damaging |
Het |
Uggt2 |
T |
C |
14: 119,295,075 (GRCm39) |
E41G |
possibly damaging |
Het |
Vmn2r80 |
A |
G |
10: 79,030,249 (GRCm39) |
R692G |
probably damaging |
Het |
Zfp763 |
A |
T |
17: 33,240,758 (GRCm39) |
W24R |
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 |
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 |
|
R9579:Slco5a1
|
UTSW |
1 |
12,949,383 (GRCm39) |
nonsense |
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'- TGCACACTAAGAAGCAGCGAGAATC -3'
(R):5'- CGTTCAGGTGGATGAAAAGTGCCG -3'
Sequencing Primer
(F):5'- ACAGTCCATGAGTTCCGTTG -3'
(R):5'- CCGGAGGCCTTATATGGAATCA -3'
|
Posted On |
2014-04-24 |