Incidental Mutation 'R7149:Slco1a7'
ID |
553998 |
Institutional Source |
Beutler Lab
|
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 # |
R7149 (G1)
|
Quality Score |
225.009 |
Status
|
Not validated
|
Chromosome |
6 |
Chromosomal Location |
141653844-141719536 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 141690178 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Serine to Proline
at position 192
(S192P)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000117177
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000148411]
|
AlphaFold |
L7N264 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000148411
AA Change: S192P
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000117177 Gene: ENSMUSG00000084927 AA Change: S192P
Domain | Start | End | E-Value | Type |
Pfam:MFS_1
|
22 |
405 |
3.4e-26 |
PFAM |
KAZAL
|
438 |
484 |
1.71e0 |
SMART |
|
Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 99.0%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 52 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Acly |
A |
C |
11: 100,375,451 (GRCm39) |
F790V |
probably damaging |
Het |
Atf4 |
AAGCGGGCTGAGC |
AAGC |
15: 80,141,500 (GRCm39) |
|
probably benign |
Het |
Brd8 |
C |
T |
18: 34,737,650 (GRCm39) |
|
probably null |
Het |
Bsn |
A |
T |
9: 107,993,520 (GRCm39) |
L744* |
probably null |
Het |
Capn9 |
A |
G |
8: 125,332,448 (GRCm39) |
D429G |
probably benign |
Het |
CK137956 |
A |
T |
4: 127,864,626 (GRCm39) |
M1K |
probably null |
Het |
Cnot6 |
G |
A |
11: 49,570,970 (GRCm39) |
P341S |
probably benign |
Het |
Cracdl |
G |
A |
1: 37,651,352 (GRCm39) |
Q1172* |
probably null |
Het |
Dld |
T |
G |
12: 31,385,589 (GRCm39) |
I251L |
probably benign |
Het |
Dlg5 |
T |
C |
14: 24,240,492 (GRCm39) |
K253R |
probably benign |
Het |
Dnmt3a |
C |
T |
12: 3,952,397 (GRCm39) |
P696L |
probably damaging |
Het |
Dph1 |
T |
C |
11: 75,070,001 (GRCm39) |
K409E |
probably benign |
Het |
Dsg2 |
T |
C |
18: 20,712,511 (GRCm39) |
S172P |
probably damaging |
Het |
Gm1979 |
T |
C |
5: 26,206,945 (GRCm39) |
N136S |
probably benign |
Het |
Gm2663 |
A |
T |
6: 40,974,891 (GRCm39) |
L60Q |
probably damaging |
Het |
Hdac10 |
A |
G |
15: 89,011,652 (GRCm39) |
F144S |
probably damaging |
Het |
Ifi203 |
T |
C |
1: 173,756,494 (GRCm39) |
T430A |
unknown |
Het |
Itgb2l |
T |
C |
16: 96,234,759 (GRCm39) |
D244G |
probably damaging |
Het |
Klk1b9 |
A |
T |
7: 43,628,841 (GRCm39) |
Y115F |
probably benign |
Het |
Llcfc1 |
C |
A |
6: 41,662,251 (GRCm39) |
A85E |
possibly damaging |
Het |
Lrp1b |
C |
T |
2: 40,527,872 (GRCm39) |
V4330M |
|
Het |
Map3k13 |
A |
G |
16: 21,744,187 (GRCm39) |
E811G |
probably benign |
Het |
Myl6b |
A |
G |
10: 128,333,068 (GRCm39) |
|
probably null |
Het |
Myo15a |
G |
A |
11: 60,400,836 (GRCm39) |
A2997T |
possibly damaging |
Het |
Nalcn |
T |
C |
14: 123,837,277 (GRCm39) |
D29G |
probably benign |
Het |
Nepro |
T |
A |
16: 44,550,078 (GRCm39) |
|
probably null |
Het |
Nlrp1b |
T |
A |
11: 71,072,482 (GRCm39) |
R454* |
probably null |
Het |
Nlrp4a |
T |
C |
7: 26,149,863 (GRCm39) |
V490A |
probably benign |
Het |
Or1e1f |
G |
A |
11: 73,856,257 (GRCm39) |
M274I |
probably benign |
Het |
Or2l13 |
T |
C |
16: 19,306,260 (GRCm39) |
V224A |
probably damaging |
Het |
Pde8b |
T |
G |
13: 95,223,349 (GRCm39) |
M197L |
probably benign |
Het |
Phldb2 |
T |
A |
16: 45,571,895 (GRCm39) |
K1166* |
probably null |
Het |
Plekhm1 |
A |
G |
11: 103,285,742 (GRCm39) |
I231T |
probably damaging |
Het |
Ppp6r2 |
T |
C |
15: 89,146,599 (GRCm39) |
I199T |
probably damaging |
Het |
Ptch1 |
G |
T |
13: 63,659,550 (GRCm39) |
H1368N |
probably benign |
Het |
Ptprj |
T |
A |
2: 90,274,790 (GRCm39) |
T1191S |
possibly damaging |
Het |
Rapgef1 |
T |
C |
2: 29,610,712 (GRCm39) |
S748P |
probably damaging |
Het |
Rigi |
T |
C |
4: 40,222,079 (GRCm39) |
D445G |
possibly damaging |
Het |
Rnmt |
T |
C |
18: 68,452,222 (GRCm39) |
S420P |
probably damaging |
Het |
Sgms2 |
A |
G |
3: 131,129,908 (GRCm39) |
F160S |
possibly damaging |
Het |
Sim1 |
G |
T |
10: 50,785,636 (GRCm39) |
R235L |
probably damaging |
Het |
Smarcad1 |
T |
A |
6: 65,029,716 (GRCm39) |
D101E |
probably benign |
Het |
Smarcc2 |
G |
A |
10: 128,318,598 (GRCm39) |
V627M |
probably damaging |
Het |
Supt20 |
G |
A |
3: 54,635,832 (GRCm39) |
R241H |
unknown |
Het |
Tagln2 |
T |
A |
1: 172,333,386 (GRCm39) |
I80N |
probably damaging |
Het |
Tmod2 |
G |
A |
9: 75,489,167 (GRCm39) |
T226I |
possibly damaging |
Het |
Vmn2r80 |
A |
T |
10: 79,030,654 (GRCm39) |
I827F |
probably benign |
Het |
Vmn2r96 |
T |
A |
17: 18,817,989 (GRCm39) |
M714K |
possibly damaging |
Het |
Vps8 |
C |
A |
16: 21,278,526 (GRCm39) |
D261E |
probably damaging |
Het |
Yeats2 |
C |
A |
16: 19,972,939 (GRCm39) |
A31E |
probably damaging |
Het |
Zfp451 |
C |
T |
1: 33,816,405 (GRCm39) |
R515Q |
probably damaging |
Het |
Zfp553 |
A |
G |
7: 126,835,605 (GRCm39) |
S387G |
possibly 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 |
IGL02060:Slco1a7
|
APN |
6 |
141,700,134 (GRCm39) |
missense |
probably benign |
0.00 |
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 |
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 |
|
Predicted Primers |
PCR Primer
(F):5'- TTCTGTCCTCCCCAAAAGTGG -3'
(R):5'- GTCCTTGAATGGTCATTGTAACC -3'
Sequencing Primer
(F):5'- TGGCAGCTACTTAAGTCAGAGTC -3'
(R):5'- TGGTCATTGTAACCTTATGACCTG -3'
|
Posted On |
2019-05-15 |