Incidental Mutation 'IGL02060:Slco1a7'
| ID |
185362 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Slco1a7
|
| Ensembl Gene |
ENSMUSG00000084927 |
| Gene Name |
solute carrier organic anion transporter family, member 1a7 |
| Synonyms |
Gm5724 |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.057)
|
| Stock # |
IGL02060
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
6 |
| Chromosomal Location |
141653844-141719536 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 141700134 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Methionine to Leucine
at position 133
(M133L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000117177
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000148411]
|
| AlphaFold |
L7N264 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000148411
AA Change: M133L
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
| SMART Domains |
Protein: ENSMUSP00000117177
Gene: ENSMUSG00000084927
AA Change: M133L
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:MFS_1
|
22 |
405 |
3.4e-26 |
PFAM |
|
KAZAL
|
438 |
484 |
1.71e0 |
SMART |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 36 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4932438H23Rik |
T |
A |
16: 90,852,603 (GRCm39) |
I178F |
probably damaging |
Het |
| Aff1 |
T |
C |
5: 103,931,715 (GRCm39) |
V111A |
possibly damaging |
Het |
| Aox1 |
T |
G |
1: 58,137,114 (GRCm39) |
I1168R |
possibly damaging |
Het |
| Atf6 |
T |
C |
1: 170,646,989 (GRCm39) |
R295G |
probably damaging |
Het |
| Blm |
C |
A |
7: 80,164,328 (GRCm39) |
|
probably benign |
Het |
| Cse1l |
A |
T |
2: 166,772,573 (GRCm39) |
L413F |
probably damaging |
Het |
| Dip2c |
T |
C |
13: 9,672,666 (GRCm39) |
V1024A |
probably damaging |
Het |
| Fam13c |
A |
T |
10: 70,388,971 (GRCm39) |
E498V |
probably damaging |
Het |
| Fat4 |
A |
G |
3: 39,064,420 (GRCm39) |
E4792G |
probably damaging |
Het |
| Gramd1a |
A |
T |
7: 30,829,996 (GRCm39) |
L151* |
probably null |
Het |
| Igbp1b |
G |
T |
6: 138,634,982 (GRCm39) |
A154E |
probably damaging |
Het |
| Itga9 |
A |
G |
9: 118,490,500 (GRCm39) |
K277R |
probably damaging |
Het |
| Klra10 |
T |
C |
6: 130,249,688 (GRCm39) |
Y199C |
probably damaging |
Het |
| Lgalsl2 |
A |
G |
7: 5,362,563 (GRCm39) |
T65A |
probably damaging |
Het |
| Mospd3 |
T |
C |
5: 137,598,266 (GRCm39) |
Y85C |
probably damaging |
Het |
| Nol6 |
C |
T |
4: 41,117,700 (GRCm39) |
A887T |
probably damaging |
Het |
| Or4a27 |
A |
T |
2: 88,559,907 (GRCm39) |
F12Y |
probably damaging |
Het |
| Or4z4 |
A |
G |
19: 12,076,824 (GRCm39) |
Y60H |
probably damaging |
Het |
| Or5p57 |
G |
T |
7: 107,665,878 (GRCm39) |
F42L |
probably benign |
Het |
| Or9g4 |
C |
T |
2: 85,505,178 (GRCm39) |
V106I |
probably benign |
Het |
| Pcdhb17 |
A |
G |
18: 37,619,469 (GRCm39) |
T420A |
probably damaging |
Het |
| Pgghg |
T |
C |
7: 140,526,546 (GRCm39) |
V646A |
probably benign |
Het |
| Prkg2 |
A |
G |
5: 99,172,374 (GRCm39) |
S114P |
probably benign |
Het |
| Rela |
G |
T |
19: 5,688,628 (GRCm39) |
K28N |
probably damaging |
Het |
| Rhbdf2 |
G |
T |
11: 116,491,452 (GRCm39) |
A598E |
probably damaging |
Het |
| Ryr2 |
C |
T |
13: 11,762,450 (GRCm39) |
D1454N |
probably damaging |
Het |
| Sdk1 |
C |
T |
5: 141,938,767 (GRCm39) |
L397F |
possibly damaging |
Het |
| Sh3pxd2a |
C |
T |
19: 47,361,817 (GRCm39) |
|
probably benign |
Het |
| Slc9a2 |
T |
A |
1: 40,795,453 (GRCm39) |
V518E |
probably damaging |
Het |
| Snapc1 |
A |
G |
12: 74,014,810 (GRCm39) |
Y105C |
probably damaging |
Het |
| Sult2a8 |
A |
G |
7: 14,159,326 (GRCm39) |
S98P |
probably damaging |
Het |
| Tmem30c |
T |
A |
16: 57,111,261 (GRCm39) |
M4L |
probably benign |
Het |
| Trim71 |
T |
C |
9: 114,342,321 (GRCm39) |
I654V |
possibly damaging |
Het |
| Uroc1 |
A |
G |
6: 90,315,237 (GRCm39) |
S133G |
probably benign |
Het |
| Vmn2r100 |
A |
G |
17: 19,741,516 (GRCm39) |
N76S |
possibly damaging |
Het |
| Zcchc14 |
T |
C |
8: 122,330,634 (GRCm39) |
S910G |
probably damaging |
Het |
|
| Other mutations in Slco1a7 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01023:Slco1a7
|
APN |
6 |
141,700,155 (GRCm39) |
missense |
probably benign |
0.14 |
|
IGL01347:Slco1a7
|
APN |
6 |
141,700,192 (GRCm39) |
nonsense |
probably null |
|
|
IGL01539:Slco1a7
|
APN |
6 |
141,673,333 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
IGL01613:Slco1a7
|
APN |
6 |
141,658,940 (GRCm39) |
missense |
possibly damaging |
0.67 |
|
IGL02063:Slco1a7
|
APN |
6 |
141,684,615 (GRCm39) |
missense |
probably benign |
0.01 |
|
IGL02126:Slco1a7
|
APN |
6 |
141,684,739 (GRCm39) |
missense |
probably benign |
0.29 |
|
IGL02214:Slco1a7
|
APN |
6 |
141,668,911 (GRCm39) |
missense |
possibly damaging |
0.50 |
|
IGL02630:Slco1a7
|
APN |
6 |
141,668,836 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0966:Slco1a7
|
UTSW |
6 |
141,673,299 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1082:Slco1a7
|
UTSW |
6 |
141,657,859 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1433:Slco1a7
|
UTSW |
6 |
141,711,429 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1571:Slco1a7
|
UTSW |
6 |
141,700,135 (GRCm39) |
nonsense |
probably null |
|
|
R1765:Slco1a7
|
UTSW |
6 |
141,700,084 (GRCm39) |
splice site |
probably benign |
|
|
R2055:Slco1a7
|
UTSW |
6 |
141,671,181 (GRCm39) |
missense |
probably benign |
0.33 |
|
R2174:Slco1a7
|
UTSW |
6 |
141,673,319 (GRCm39) |
nonsense |
probably null |
|
|
R2495:Slco1a7
|
UTSW |
6 |
141,711,503 (GRCm39) |
missense |
probably benign |
0.02 |
|
R2857:Slco1a7
|
UTSW |
6 |
141,690,264 (GRCm39) |
missense |
probably benign |
0.35 |
|
R3551:Slco1a7
|
UTSW |
6 |
141,654,322 (GRCm39) |
missense |
probably benign |
0.20 |
|
R3824:Slco1a7
|
UTSW |
6 |
141,700,100 (GRCm39) |
missense |
possibly damaging |
0.50 |
|
R3912:Slco1a7
|
UTSW |
6 |
141,673,362 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R3942:Slco1a7
|
UTSW |
6 |
141,673,440 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R4161:Slco1a7
|
UTSW |
6 |
141,654,322 (GRCm39) |
missense |
probably benign |
0.20 |
|
R4168:Slco1a7
|
UTSW |
6 |
141,684,673 (GRCm39) |
missense |
probably benign |
0.03 |
|
R4395:Slco1a7
|
UTSW |
6 |
141,657,844 (GRCm39) |
missense |
probably benign |
0.02 |
|
R4720:Slco1a7
|
UTSW |
6 |
141,668,948 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4732:Slco1a7
|
UTSW |
6 |
141,668,905 (GRCm39) |
missense |
probably benign |
0.01 |
|
R4733:Slco1a7
|
UTSW |
6 |
141,668,905 (GRCm39) |
missense |
probably benign |
0.01 |
|
R4794:Slco1a7
|
UTSW |
6 |
141,713,288 (GRCm39) |
missense |
probably benign |
0.11 |
|
R5062:Slco1a7
|
UTSW |
6 |
141,713,180 (GRCm39) |
missense |
possibly damaging |
0.46 |
|
R5389:Slco1a7
|
UTSW |
6 |
141,686,193 (GRCm39) |
missense |
probably benign |
0.12 |
|
R5419:Slco1a7
|
UTSW |
6 |
141,681,826 (GRCm39) |
splice site |
probably null |
|
|
R5423:Slco1a7
|
UTSW |
6 |
141,690,188 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5704:Slco1a7
|
UTSW |
6 |
141,658,980 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5973:Slco1a7
|
UTSW |
6 |
141,700,182 (GRCm39) |
missense |
probably benign |
0.01 |
|
R6041:Slco1a7
|
UTSW |
6 |
141,684,764 (GRCm39) |
missense |
probably benign |
0.11 |
|
R6284:Slco1a7
|
UTSW |
6 |
141,671,119 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6395:Slco1a7
|
UTSW |
6 |
141,668,818 (GRCm39) |
splice site |
probably null |
|
|
R6993:Slco1a7
|
UTSW |
6 |
141,711,468 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R7149:Slco1a7
|
UTSW |
6 |
141,690,178 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7159:Slco1a7
|
UTSW |
6 |
141,719,504 (GRCm39) |
start codon destroyed |
probably damaging |
1.00 |
|
R7627:Slco1a7
|
UTSW |
6 |
141,690,271 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7784:Slco1a7
|
UTSW |
6 |
141,658,919 (GRCm39) |
critical splice donor site |
probably null |
|
|
R7873:Slco1a7
|
UTSW |
6 |
141,673,448 (GRCm39) |
missense |
probably benign |
0.44 |
|
R8670:Slco1a7
|
UTSW |
6 |
141,711,468 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R8720:Slco1a7
|
UTSW |
6 |
141,668,852 (GRCm39) |
missense |
probably benign |
0.01 |
|
R9124:Slco1a7
|
UTSW |
6 |
141,668,830 (GRCm39) |
missense |
possibly damaging |
0.81 |
|
R9238:Slco1a7
|
UTSW |
6 |
141,686,153 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R9381:Slco1a7
|
UTSW |
6 |
141,711,490 (GRCm39) |
missense |
probably benign |
0.00 |
|
X0020:Slco1a7
|
UTSW |
6 |
141,700,091 (GRCm39) |
missense |
probably benign |
0.00 |
|
| Posted On |
2014-05-07 |
Incidental Mutation