Incidental Mutation 'R5561:Slco3a1'
| ID |
436596 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Slco3a1
|
| Ensembl Gene |
ENSMUSG00000025790 |
| Gene Name |
solute carrier organic anion transporter family, member 3a1 |
| Synonyms |
OATP-D, Slc21a11, 5830414C08Rik, Anr1, MJAM |
| MMRRC Submission |
043118-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.118)
|
| Stock # |
R5561 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
7 |
| Chromosomal Location |
73925167-74204528 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 73968247 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Threonine
at position 491
(I491T)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000103077
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000026897]
[ENSMUST00000098371]
[ENSMUST00000107453]
|
| AlphaFold |
Q8R3L5 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000026897
AA Change: I491T
PolyPhen 2
Score 0.575 (Sensitivity: 0.88; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000026897
Gene: ENSMUSG00000025790
AA Change: I491T
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
7 |
16 |
N/A |
INTRINSIC |
|
Pfam:MFS_1
|
44 |
455 |
1.2e-27 |
PFAM |
|
KAZAL
|
474 |
509 |
2.77e-1 |
SMART |
|
low complexity region
|
574 |
594 |
N/A |
INTRINSIC |
|
transmembrane domain
|
626 |
648 |
N/A |
INTRINSIC |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000098371
AA Change: I491T
PolyPhen 2
Score 0.575 (Sensitivity: 0.88; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000095973
Gene: ENSMUSG00000025790
AA Change: I491T
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
7 |
16 |
N/A |
INTRINSIC |
|
Pfam:MFS_1
|
44 |
456 |
1.2e-27 |
PFAM |
|
KAZAL
|
474 |
509 |
2.77e-1 |
SMART |
|
low complexity region
|
574 |
594 |
N/A |
INTRINSIC |
|
transmembrane domain
|
626 |
648 |
N/A |
INTRINSIC |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000107453
AA Change: I491T
PolyPhen 2
Score 0.673 (Sensitivity: 0.86; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000103077
Gene: ENSMUSG00000025790
AA Change: I491T
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
7 |
16 |
N/A |
INTRINSIC |
|
Pfam:MFS_1
|
45 |
456 |
2e-27 |
PFAM |
|
KAZAL
|
474 |
509 |
2.77e-1 |
SMART |
|
low complexity region
|
574 |
589 |
N/A |
INTRINSIC |
|
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 97.9%
- 20x: 93.4%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 64 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| A630095N17Rik |
T |
C |
1: 75,197,181 (GRCm39) |
|
probably benign |
Het |
| Acyp2 |
C |
T |
11: 30,456,354 (GRCm39) |
E98K |
possibly damaging |
Het |
| Adgrv1 |
A |
G |
13: 81,624,683 (GRCm39) |
L3762P |
probably damaging |
Het |
| Amn1 |
G |
A |
6: 149,086,522 (GRCm39) |
R4W |
probably damaging |
Het |
| Atxn1 |
G |
T |
13: 45,720,347 (GRCm39) |
T516N |
possibly damaging |
Het |
| Atxn7 |
A |
T |
14: 14,089,260 (GRCm38) |
T259S |
probably benign |
Het |
| Bsn |
C |
G |
9: 107,982,710 (GRCm39) |
R3681P |
unknown |
Het |
| C8b |
T |
C |
4: 104,641,645 (GRCm39) |
Y194H |
possibly damaging |
Het |
| Ccdc110 |
T |
G |
8: 46,393,646 (GRCm39) |
S119R |
probably benign |
Het |
| Ccdc202 |
C |
A |
14: 96,119,807 (GRCm39) |
A188E |
probably benign |
Het |
| Ceacam20 |
A |
T |
7: 19,704,318 (GRCm39) |
Q123L |
possibly damaging |
Het |
| Clip3 |
A |
G |
7: 29,998,274 (GRCm39) |
D240G |
possibly damaging |
Het |
| Col24a1 |
T |
C |
3: 145,004,588 (GRCm39) |
F22S |
probably benign |
Het |
| Dlg5 |
T |
A |
14: 24,227,860 (GRCm39) |
M354L |
probably benign |
Het |
| Dnajb12 |
GC |
G |
10: 59,728,574 (GRCm39) |
|
probably null |
Het |
| Dnase1l3 |
A |
G |
14: 7,967,847 (GRCm38) |
V282A |
probably damaging |
Het |
| Dnhd1 |
G |
A |
7: 105,364,028 (GRCm39) |
G4127S |
probably damaging |
Het |
| Eed |
G |
A |
7: 89,617,001 (GRCm39) |
R165W |
probably damaging |
Het |
| Ephb2 |
C |
T |
4: 136,388,717 (GRCm39) |
V627M |
probably damaging |
Het |
| Fancc |
T |
C |
13: 63,465,201 (GRCm39) |
E502G |
possibly damaging |
Het |
| Fbf1 |
T |
C |
11: 116,048,646 (GRCm39) |
D105G |
probably damaging |
Het |
| Fer |
T |
A |
17: 64,344,580 (GRCm39) |
Y246* |
probably null |
Het |
| Fer1l6 |
A |
G |
15: 58,532,674 (GRCm39) |
K1792E |
probably damaging |
Het |
| Foxi2 |
A |
G |
7: 135,013,376 (GRCm39) |
D202G |
probably damaging |
Het |
| Gm11595 |
G |
A |
11: 99,663,381 (GRCm39) |
R100C |
unknown |
Het |
| H2-DMb2 |
G |
T |
17: 34,364,445 (GRCm39) |
|
probably null |
Het |
| Helq |
G |
T |
5: 100,934,916 (GRCm39) |
D491E |
probably benign |
Het |
| Hgsnat |
A |
G |
8: 26,436,362 (GRCm39) |
V564A |
possibly damaging |
Het |
| Hjurp |
GT |
GTT |
1: 88,194,246 (GRCm39) |
|
probably null |
Het |
| Hs3st5 |
T |
A |
10: 36,709,425 (GRCm39) |
V320D |
probably damaging |
Het |
| Ifit1bl1 |
A |
T |
19: 34,571,197 (GRCm39) |
L420* |
probably null |
Het |
| Ift80 |
T |
G |
3: 68,875,196 (GRCm39) |
N178T |
probably benign |
Het |
| Ing4 |
C |
T |
6: 125,024,023 (GRCm39) |
T89I |
possibly damaging |
Het |
| Lcp1 |
G |
A |
14: 75,449,948 (GRCm39) |
D386N |
probably benign |
Het |
| Mdc1 |
T |
A |
17: 36,159,438 (GRCm39) |
I606K |
probably benign |
Het |
| Mllt10 |
T |
A |
2: 18,114,656 (GRCm39) |
M120K |
probably damaging |
Het |
| Morc1 |
G |
T |
16: 48,269,711 (GRCm39) |
L89F |
probably benign |
Het |
| Mroh2a |
GCCC |
GC |
1: 88,159,979 (GRCm39) |
|
probably null |
Het |
| Nav3 |
C |
A |
10: 109,552,413 (GRCm39) |
D1810Y |
probably damaging |
Het |
| Obscn |
G |
A |
11: 58,926,919 (GRCm39) |
T5532M |
probably damaging |
Het |
| Opn3 |
C |
T |
1: 175,493,153 (GRCm39) |
R137H |
probably damaging |
Het |
| Or12j2 |
C |
T |
7: 139,916,065 (GRCm39) |
Q97* |
probably null |
Het |
| Or2d36 |
A |
G |
7: 106,747,297 (GRCm39) |
N258S |
probably benign |
Het |
| Palld |
G |
A |
8: 61,969,619 (GRCm39) |
A993V |
probably damaging |
Het |
| Ppp1r12c |
A |
T |
7: 4,489,355 (GRCm39) |
|
probably null |
Het |
| Prdm4 |
TCTCCTCCT |
TCTCCT |
10: 85,728,987 (GRCm39) |
|
probably null |
Het |
| Rapgef2 |
A |
T |
3: 78,995,950 (GRCm39) |
|
probably null |
Het |
| Ring1 |
T |
C |
17: 34,240,432 (GRCm39) |
E382G |
possibly damaging |
Het |
| Rpl22l1 |
T |
A |
3: 28,860,969 (GRCm39) |
N61K |
probably benign |
Het |
| Rpp14 |
A |
G |
14: 8,090,558 (GRCm38) |
|
probably null |
Het |
| Rusc2 |
C |
T |
4: 43,415,932 (GRCm39) |
Q413* |
probably null |
Het |
| Smtnl1 |
C |
T |
2: 84,648,739 (GRCm39) |
V172I |
probably benign |
Het |
| Spats2l |
T |
A |
1: 57,939,780 (GRCm39) |
|
probably null |
Het |
| Spire1 |
T |
A |
18: 67,639,716 (GRCm39) |
N266Y |
probably damaging |
Het |
| Stox2 |
T |
C |
8: 47,646,041 (GRCm39) |
H473R |
probably damaging |
Het |
| Syne2 |
C |
T |
12: 76,141,232 (GRCm39) |
R121* |
probably null |
Het |
| Synrg |
G |
A |
11: 83,893,066 (GRCm39) |
|
probably null |
Het |
| Tm9sf1 |
C |
T |
14: 55,875,554 (GRCm39) |
V397M |
probably damaging |
Het |
| Trabd |
T |
C |
15: 88,966,187 (GRCm39) |
M48T |
probably benign |
Het |
| Ttn |
T |
A |
2: 76,537,577 (GRCm39) |
I26457F |
possibly damaging |
Het |
| Uggt2 |
C |
T |
14: 119,278,939 (GRCm39) |
R856Q |
probably benign |
Het |
| Ugt1a5 |
T |
A |
1: 88,094,039 (GRCm39) |
M89K |
probably benign |
Het |
| Vmn2r53 |
A |
T |
7: 12,335,347 (GRCm39) |
S104R |
probably damaging |
Het |
| Zdhhc12 |
A |
T |
2: 29,982,496 (GRCm39) |
L53Q |
probably null |
Het |
|
| Other mutations in Slco3a1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00897:Slco3a1
|
APN |
7 |
74,153,931 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01124:Slco3a1
|
APN |
7 |
73,934,295 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01583:Slco3a1
|
APN |
7 |
73,934,198 (GRCm39) |
missense |
probably benign |
0.01 |
|
IGL01929:Slco3a1
|
APN |
7 |
73,968,353 (GRCm39) |
splice site |
probably benign |
|
|
IGL01991:Slco3a1
|
APN |
7 |
73,934,144 (GRCm39) |
missense |
possibly damaging |
0.84 |
|
IGL02380:Slco3a1
|
APN |
7 |
74,204,238 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03269:Slco3a1
|
APN |
7 |
73,968,280 (GRCm39) |
missense |
possibly damaging |
0.58 |
|
R0052:Slco3a1
|
UTSW |
7 |
74,154,074 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0052:Slco3a1
|
UTSW |
7 |
74,154,074 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0317:Slco3a1
|
UTSW |
7 |
74,154,174 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0545:Slco3a1
|
UTSW |
7 |
73,970,301 (GRCm39) |
nonsense |
probably null |
|
|
R0613:Slco3a1
|
UTSW |
7 |
73,996,382 (GRCm39) |
unclassified |
probably benign |
|
|
R1488:Slco3a1
|
UTSW |
7 |
73,996,449 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R1506:Slco3a1
|
UTSW |
7 |
74,009,683 (GRCm39) |
splice site |
probably null |
|
|
R1571:Slco3a1
|
UTSW |
7 |
74,154,128 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R1912:Slco3a1
|
UTSW |
7 |
74,154,359 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2011:Slco3a1
|
UTSW |
7 |
73,996,419 (GRCm39) |
missense |
probably benign |
0.08 |
|
R2382:Slco3a1
|
UTSW |
7 |
73,996,524 (GRCm39) |
missense |
probably benign |
0.00 |
|
R3735:Slco3a1
|
UTSW |
7 |
74,154,245 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3894:Slco3a1
|
UTSW |
7 |
73,934,361 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4151:Slco3a1
|
UTSW |
7 |
74,009,586 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4175:Slco3a1
|
UTSW |
7 |
73,968,302 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R4303:Slco3a1
|
UTSW |
7 |
74,204,276 (GRCm39) |
missense |
probably benign |
0.03 |
|
R4462:Slco3a1
|
UTSW |
7 |
74,204,311 (GRCm39) |
missense |
probably benign |
0.18 |
|
R4702:Slco3a1
|
UTSW |
7 |
73,970,315 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R4896:Slco3a1
|
UTSW |
7 |
73,970,304 (GRCm39) |
missense |
probably null |
1.00 |
|
R5419:Slco3a1
|
UTSW |
7 |
73,934,363 (GRCm39) |
missense |
possibly damaging |
0.77 |
|
R5597:Slco3a1
|
UTSW |
7 |
73,934,210 (GRCm39) |
missense |
probably benign |
0.31 |
|
R5698:Slco3a1
|
UTSW |
7 |
73,996,566 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6086:Slco3a1
|
UTSW |
7 |
73,968,338 (GRCm39) |
missense |
possibly damaging |
0.64 |
|
R6117:Slco3a1
|
UTSW |
7 |
73,968,254 (GRCm39) |
missense |
probably benign |
0.02 |
|
R6118:Slco3a1
|
UTSW |
7 |
73,968,254 (GRCm39) |
missense |
probably benign |
0.02 |
|
R6123:Slco3a1
|
UTSW |
7 |
73,968,254 (GRCm39) |
missense |
probably benign |
0.02 |
|
R6124:Slco3a1
|
UTSW |
7 |
73,968,254 (GRCm39) |
missense |
probably benign |
0.02 |
|
R6125:Slco3a1
|
UTSW |
7 |
73,968,254 (GRCm39) |
missense |
probably benign |
0.02 |
|
R7147:Slco3a1
|
UTSW |
7 |
74,154,042 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7332:Slco3a1
|
UTSW |
7 |
73,968,232 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R7335:Slco3a1
|
UTSW |
7 |
73,934,090 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7646:Slco3a1
|
UTSW |
7 |
74,154,344 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7798:Slco3a1
|
UTSW |
7 |
73,968,344 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8024:Slco3a1
|
UTSW |
7 |
74,204,218 (GRCm39) |
missense |
probably benign |
0.24 |
|
R8128:Slco3a1
|
UTSW |
7 |
73,934,049 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8184:Slco3a1
|
UTSW |
7 |
74,009,577 (GRCm39) |
missense |
probably benign |
0.01 |
|
R8192:Slco3a1
|
UTSW |
7 |
73,970,338 (GRCm39) |
missense |
probably benign |
0.13 |
|
R8279:Slco3a1
|
UTSW |
7 |
73,934,144 (GRCm39) |
missense |
possibly damaging |
0.84 |
|
R8511:Slco3a1
|
UTSW |
7 |
73,952,990 (GRCm39) |
missense |
probably benign |
0.33 |
|
R8732:Slco3a1
|
UTSW |
7 |
73,934,054 (GRCm39) |
missense |
possibly damaging |
0.47 |
|
R8933:Slco3a1
|
UTSW |
7 |
73,934,248 (GRCm39) |
nonsense |
probably null |
|
|
R8987:Slco3a1
|
UTSW |
7 |
73,970,324 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R9138:Slco3a1
|
UTSW |
7 |
74,009,664 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9177:Slco3a1
|
UTSW |
7 |
73,952,946 (GRCm39) |
missense |
probably benign |
0.40 |
|
R9268:Slco3a1
|
UTSW |
7 |
73,952,946 (GRCm39) |
missense |
probably benign |
0.40 |
|
R9310:Slco3a1
|
UTSW |
7 |
74,204,236 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R9342:Slco3a1
|
UTSW |
7 |
74,154,037 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9347:Slco3a1
|
UTSW |
7 |
73,934,153 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R9422:Slco3a1
|
UTSW |
7 |
73,946,996 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9556:Slco3a1
|
UTSW |
7 |
74,201,905 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9560:Slco3a1
|
UTSW |
7 |
74,153,931 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9709:Slco3a1
|
UTSW |
7 |
73,952,957 (GRCm39) |
missense |
possibly damaging |
0.62 |
|
X0017:Slco3a1
|
UTSW |
7 |
73,934,108 (GRCm39) |
missense |
probably benign |
0.03 |
|
Z1176:Slco3a1
|
UTSW |
7 |
73,925,762 (GRCm39) |
nonsense |
probably null |
|
|
| Predicted Primers |
PCR Primer
(F):5'- GTCCATTTGACTCAGCAAAGGC -3'
(R):5'- AAGCCCATCACAGCAGTGTTG -3'
Sequencing Primer
(F):5'- TTGACTCAGCAAAGGCCTGGG -3'
(R):5'- TCACAGCAGTGTTGTCACCAG -3'
|
| Posted On |
2016-10-24 |
Incidental Mutation