Incidental Mutation 'IGL03065:Slco1a8'
| ID |
409670 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Slco1a8
|
| Ensembl Gene |
ENSMUSG00000079263 |
| Gene Name |
solute carrier organic anion transporter family, member 1a8 |
| Synonyms |
Gm6614 |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.063)
|
| Stock # |
IGL03065
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
6 |
| Chromosomal Location |
141917571-141957140 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to A
at 141938228 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Phenylalanine
at position 230
(L230F)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000137696
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000111832]
[ENSMUST00000181628]
[ENSMUST00000181791]
|
| AlphaFold |
M0QWR8 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000111832
AA Change: L230F
PolyPhen 2
Score 0.990 (Sensitivity: 0.72; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000107463
Gene: ENSMUSG00000079263
AA Change: L230F
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:OATP
|
1 |
577 |
2.5e-156 |
PFAM |
|
Pfam:MFS_1
|
125 |
402 |
1e-23 |
PFAM |
|
Pfam:Kazal_2
|
425 |
466 |
4.1e-9 |
PFAM |
|
transmembrane domain
|
580 |
602 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000181628
AA Change: L250F
PolyPhen 2
Score 0.990 (Sensitivity: 0.72; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000137967
Gene: ENSMUSG00000079263
AA Change: L250F
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:OATP
|
19 |
598 |
2.8e-187 |
PFAM |
|
Pfam:MFS_1
|
145 |
422 |
8e-24 |
PFAM |
|
Pfam:Kazal_2
|
445 |
486 |
1.1e-7 |
PFAM |
|
transmembrane domain
|
600 |
622 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000181791
AA Change: L230F
PolyPhen 2
Score 0.990 (Sensitivity: 0.72; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000137696
Gene: ENSMUSG00000079263
AA Change: L230F
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:OATP
|
1 |
578 |
2.3e-186 |
PFAM |
|
Pfam:MFS_1
|
125 |
402 |
8.6e-24 |
PFAM |
|
Pfam:Kazal_2
|
425 |
466 |
1.4e-7 |
PFAM |
|
transmembrane domain
|
580 |
602 |
N/A |
INTRINSIC |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 52 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adgrl1 |
A |
G |
8: 84,665,143 (GRCm39) |
M1322V |
possibly damaging |
Het |
| Adprh |
C |
T |
16: 38,266,396 (GRCm39) |
V249I |
probably benign |
Het |
| Afg2a |
T |
C |
3: 37,486,328 (GRCm39) |
V350A |
possibly damaging |
Het |
| Als2 |
T |
C |
1: 59,255,031 (GRCm39) |
S109G |
probably benign |
Het |
| Bpifa1 |
T |
A |
2: 153,989,562 (GRCm39) |
N250K |
probably damaging |
Het |
| Capn9 |
A |
C |
8: 125,332,298 (GRCm39) |
Y423S |
probably damaging |
Het |
| Cd200r1 |
T |
G |
16: 44,614,645 (GRCm39) |
V308G |
probably benign |
Het |
| Cic |
T |
C |
7: 24,985,246 (GRCm39) |
|
probably benign |
Het |
| Col5a1 |
T |
A |
2: 27,922,757 (GRCm39) |
I275N |
possibly damaging |
Het |
| Col6a4 |
C |
A |
9: 105,918,363 (GRCm39) |
|
probably benign |
Het |
| Cpeb1 |
T |
C |
7: 81,086,038 (GRCm39) |
R35G |
probably benign |
Het |
| Cul1 |
A |
G |
6: 47,472,015 (GRCm39) |
Y52C |
probably damaging |
Het |
| Dctn1 |
T |
C |
6: 83,169,475 (GRCm39) |
F496L |
probably damaging |
Het |
| Dock11 |
G |
T |
X: 35,310,699 (GRCm39) |
|
probably benign |
Het |
| Eaf2 |
C |
T |
16: 36,648,484 (GRCm39) |
R12H |
probably benign |
Het |
| Gcc1 |
T |
A |
6: 28,418,401 (GRCm39) |
Q644L |
possibly damaging |
Het |
| Gm44865 |
C |
T |
7: 108,165,004 (GRCm39) |
|
probably benign |
Het |
| Golgb1 |
C |
T |
16: 36,733,228 (GRCm39) |
S825L |
probably benign |
Het |
| Gstp3 |
C |
T |
19: 4,108,730 (GRCm39) |
|
probably null |
Het |
| Heph |
T |
A |
X: 95,571,173 (GRCm39) |
I669N |
probably benign |
Het |
| Il12rb1 |
A |
T |
8: 71,273,202 (GRCm39) |
Y635F |
possibly damaging |
Het |
| Ing3 |
G |
A |
6: 21,971,221 (GRCm39) |
A331T |
probably benign |
Het |
| Ipo8 |
T |
A |
6: 148,686,205 (GRCm39) |
I762F |
probably benign |
Het |
| Itpr3 |
G |
A |
17: 27,310,907 (GRCm39) |
R510Q |
probably damaging |
Het |
| Kif16b |
A |
G |
2: 142,461,833 (GRCm39) |
Y1273H |
probably damaging |
Het |
| Map3k14 |
T |
C |
11: 103,115,927 (GRCm39) |
E784G |
probably damaging |
Het |
| Mpdz |
A |
T |
4: 81,210,802 (GRCm39) |
N1694K |
probably damaging |
Het |
| Myh13 |
T |
C |
11: 67,235,679 (GRCm39) |
F648S |
probably damaging |
Het |
| Myh4 |
A |
G |
11: 67,149,982 (GRCm39) |
H1847R |
probably benign |
Het |
| Ncoa7 |
T |
A |
10: 30,523,993 (GRCm39) |
D840V |
probably damaging |
Het |
| Nxpe2 |
T |
A |
9: 48,230,992 (GRCm39) |
N459I |
possibly damaging |
Het |
| Or4d10c |
C |
A |
19: 12,065,975 (GRCm39) |
L60F |
possibly damaging |
Het |
| Or4k2 |
C |
A |
14: 50,424,465 (GRCm39) |
D70Y |
probably damaging |
Het |
| Or4k47 |
T |
C |
2: 111,451,535 (GRCm39) |
K295E |
probably damaging |
Het |
| Ovgp1 |
T |
C |
3: 105,893,682 (GRCm39) |
F485S |
probably benign |
Het |
| Parp4 |
G |
T |
14: 56,875,326 (GRCm39) |
A1182S |
probably benign |
Het |
| Pkd1l2 |
G |
A |
8: 117,792,484 (GRCm39) |
T436I |
probably benign |
Het |
| Pla2g15 |
G |
A |
8: 106,886,851 (GRCm39) |
R114H |
probably benign |
Het |
| Plppr3 |
T |
A |
10: 79,701,880 (GRCm39) |
T321S |
probably benign |
Het |
| Rnf113a1 |
A |
G |
X: 36,455,748 (GRCm39) |
D235G |
probably benign |
Het |
| Rsrp1 |
A |
G |
4: 134,651,700 (GRCm39) |
T155A |
possibly damaging |
Het |
| Simc1 |
G |
T |
13: 54,685,025 (GRCm39) |
C87F |
probably damaging |
Het |
| Slco1a5 |
A |
G |
6: 142,194,569 (GRCm39) |
|
probably benign |
Het |
| Smyd5 |
A |
G |
6: 85,419,146 (GRCm39) |
D276G |
possibly damaging |
Het |
| Tmem132c |
A |
G |
5: 127,640,688 (GRCm39) |
Y953C |
probably damaging |
Het |
| Trank1 |
T |
A |
9: 111,219,361 (GRCm39) |
S2033T |
possibly damaging |
Het |
| Trim69 |
A |
G |
2: 122,009,115 (GRCm39) |
T392A |
probably damaging |
Het |
| Tsks |
T |
C |
7: 44,592,724 (GRCm39) |
V6A |
probably damaging |
Het |
| Yjefn3 |
A |
G |
8: 70,342,206 (GRCm39) |
|
probably benign |
Het |
| Zfp263 |
T |
G |
16: 3,564,344 (GRCm39) |
D211E |
probably benign |
Het |
| Zfp994 |
A |
T |
17: 22,421,661 (GRCm39) |
F51L |
probably damaging |
Het |
| Znfx1 |
A |
T |
2: 166,897,685 (GRCm39) |
M413K |
probably benign |
Het |
|
| Other mutations in Slco1a8 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01354:Slco1a8
|
APN |
6 |
141,936,134 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL01548:Slco1a8
|
APN |
6 |
141,938,238 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
IGL01552:Slco1a8
|
APN |
6 |
141,933,432 (GRCm39) |
missense |
possibly damaging |
0.54 |
|
IGL02207:Slco1a8
|
APN |
6 |
141,936,158 (GRCm39) |
missense |
possibly damaging |
0.80 |
|
IGL02227:Slco1a8
|
APN |
6 |
141,939,401 (GRCm39) |
nonsense |
probably null |
|
|
IGL02547:Slco1a8
|
APN |
6 |
141,936,116 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL02678:Slco1a8
|
APN |
6 |
141,954,444 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02695:Slco1a8
|
APN |
6 |
141,933,486 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02851:Slco1a8
|
APN |
6 |
141,949,197 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02881:Slco1a8
|
APN |
6 |
141,917,969 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL02898:Slco1a8
|
APN |
6 |
141,940,023 (GRCm39) |
missense |
probably benign |
0.01 |
|
IGL03036:Slco1a8
|
APN |
6 |
141,954,333 (GRCm39) |
missense |
possibly damaging |
0.69 |
|
IGL03300:Slco1a8
|
APN |
6 |
141,940,532 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R0020:Slco1a8
|
UTSW |
6 |
141,918,076 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R0020:Slco1a8
|
UTSW |
6 |
141,918,076 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R0049:Slco1a8
|
UTSW |
6 |
141,936,147 (GRCm39) |
missense |
probably benign |
|
|
R0049:Slco1a8
|
UTSW |
6 |
141,936,147 (GRCm39) |
missense |
probably benign |
|
|
R0149:Slco1a8
|
UTSW |
6 |
141,938,203 (GRCm39) |
missense |
probably benign |
0.01 |
|
R0270:Slco1a8
|
UTSW |
6 |
141,918,137 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
R0360:Slco1a8
|
UTSW |
6 |
141,928,053 (GRCm39) |
splice site |
probably benign |
|
|
R0420:Slco1a8
|
UTSW |
6 |
141,931,203 (GRCm39) |
splice site |
probably benign |
|
|
R0737:Slco1a8
|
UTSW |
6 |
141,949,154 (GRCm39) |
missense |
possibly damaging |
0.79 |
|
R1344:Slco1a8
|
UTSW |
6 |
141,931,344 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1464:Slco1a8
|
UTSW |
6 |
141,938,243 (GRCm39) |
nonsense |
probably null |
|
|
R1464:Slco1a8
|
UTSW |
6 |
141,938,243 (GRCm39) |
nonsense |
probably null |
|
|
R1590:Slco1a8
|
UTSW |
6 |
141,926,598 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1666:Slco1a8
|
UTSW |
6 |
141,927,775 (GRCm39) |
splice site |
probably null |
|
|
R1669:Slco1a8
|
UTSW |
6 |
141,933,415 (GRCm39) |
missense |
probably benign |
0.39 |
|
R1862:Slco1a8
|
UTSW |
6 |
141,949,149 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R1882:Slco1a8
|
UTSW |
6 |
141,939,363 (GRCm39) |
critical splice donor site |
probably null |
|
|
R2134:Slco1a8
|
UTSW |
6 |
141,926,704 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2155:Slco1a8
|
UTSW |
6 |
141,926,670 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2163:Slco1a8
|
UTSW |
6 |
141,926,664 (GRCm39) |
missense |
possibly damaging |
0.55 |
|
R2227:Slco1a8
|
UTSW |
6 |
141,938,087 (GRCm39) |
missense |
possibly damaging |
0.67 |
|
R2382:Slco1a8
|
UTSW |
6 |
141,936,206 (GRCm39) |
missense |
probably benign |
0.00 |
|
R3773:Slco1a8
|
UTSW |
6 |
141,918,061 (GRCm39) |
missense |
probably benign |
0.17 |
|
R4869:Slco1a8
|
UTSW |
6 |
141,933,492 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4975:Slco1a8
|
UTSW |
6 |
141,926,599 (GRCm39) |
missense |
probably benign |
0.30 |
|
R5061:Slco1a8
|
UTSW |
6 |
141,954,414 (GRCm39) |
missense |
probably benign |
0.03 |
|
R5079:Slco1a8
|
UTSW |
6 |
141,918,073 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5312:Slco1a8
|
UTSW |
6 |
141,918,058 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5691:Slco1a8
|
UTSW |
6 |
141,940,581 (GRCm39) |
nonsense |
probably null |
|
|
R5874:Slco1a8
|
UTSW |
6 |
141,917,961 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5945:Slco1a8
|
UTSW |
6 |
141,940,008 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6478:Slco1a8
|
UTSW |
6 |
141,939,368 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R7305:Slco1a8
|
UTSW |
6 |
141,938,220 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7325:Slco1a8
|
UTSW |
6 |
141,934,951 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R7427:Slco1a8
|
UTSW |
6 |
141,949,234 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R7728:Slco1a8
|
UTSW |
6 |
141,933,436 (GRCm39) |
nonsense |
probably null |
|
|
R7949:Slco1a8
|
UTSW |
6 |
141,939,991 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8079:Slco1a8
|
UTSW |
6 |
141,933,460 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8095:Slco1a8
|
UTSW |
6 |
141,933,415 (GRCm39) |
missense |
probably benign |
0.39 |
|
R8472:Slco1a8
|
UTSW |
6 |
141,949,115 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8687:Slco1a8
|
UTSW |
6 |
141,939,991 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R8788:Slco1a8
|
UTSW |
6 |
141,933,570 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8869:Slco1a8
|
UTSW |
6 |
141,927,810 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R9162:Slco1a8
|
UTSW |
6 |
141,939,453 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9262:Slco1a8
|
UTSW |
6 |
141,926,594 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R9280:Slco1a8
|
UTSW |
6 |
141,939,978 (GRCm39) |
missense |
possibly damaging |
0.80 |
|
R9398:Slco1a8
|
UTSW |
6 |
141,940,511 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R9600:Slco1a8
|
UTSW |
6 |
141,949,234 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
RF021:Slco1a8
|
UTSW |
6 |
141,954,440 (GRCm39) |
missense |
probably damaging |
0.98 |
|
Z1176:Slco1a8
|
UTSW |
6 |
141,936,074 (GRCm39) |
missense |
probably benign |
0.01 |
|
Z1177:Slco1a8
|
UTSW |
6 |
141,939,928 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Posted On |
2016-08-02 |
Incidental Mutation