Incidental Mutation 'R4168:Slco1a7'
| ID |
320656 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Slco1a7
|
| Ensembl Gene |
ENSMUSG00000084927 |
| Gene Name |
solute carrier organic anion transporter family, member 1a7 |
| Synonyms |
Gm5724 |
| MMRRC Submission |
041009-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.072)
|
| Stock # |
R4168 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
6 |
| Chromosomal Location |
141653844-141719536 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 141684673 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Valine
at position 261
(I261V)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000117177
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000148411]
|
| AlphaFold |
L7N264 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000148411
AA Change: I261V
PolyPhen 2
Score 0.025 (Sensitivity: 0.95; Specificity: 0.81)
|
| SMART Domains |
Protein: ENSMUSP00000117177
Gene: ENSMUSG00000084927
AA Change: I261V
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:MFS_1
|
22 |
405 |
3.4e-26 |
PFAM |
|
KAZAL
|
438 |
484 |
1.71e0 |
SMART |
|
| Meta Mutation Damage Score |
0.0780 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 97.2%
- 20x: 95.3%
|
| Validation Efficiency |
98% (39/40) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 31 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| C3 |
A |
T |
17: 57,525,608 (GRCm39) |
F883I |
probably benign |
Het |
| Cbr4 |
T |
A |
8: 61,944,555 (GRCm39) |
|
probably benign |
Het |
| Cd200r3 |
T |
A |
16: 44,774,552 (GRCm39) |
D188E |
probably benign |
Het |
| Chpf2 |
T |
C |
5: 24,796,788 (GRCm39) |
V578A |
possibly damaging |
Het |
| Clasrp |
A |
G |
7: 19,315,079 (GRCm39) |
|
probably benign |
Het |
| Cmip |
A |
T |
8: 118,183,656 (GRCm39) |
N743I |
probably damaging |
Het |
| Ctif |
A |
C |
18: 75,770,286 (GRCm39) |
L33R |
probably damaging |
Het |
| Dmap1 |
T |
A |
4: 117,538,507 (GRCm39) |
H54L |
possibly damaging |
Het |
| Elk3 |
A |
G |
10: 93,101,197 (GRCm39) |
|
probably null |
Het |
| Fcgbpl1 |
T |
C |
7: 27,836,534 (GRCm39) |
L151P |
probably benign |
Het |
| Flt4 |
G |
A |
11: 49,521,400 (GRCm39) |
R440H |
probably benign |
Het |
| Gabrb2 |
A |
T |
11: 42,312,155 (GRCm39) |
|
probably benign |
Het |
| Gm12789 |
A |
G |
4: 101,847,159 (GRCm39) |
Y148C |
possibly damaging |
Het |
| Haspin |
A |
G |
11: 73,026,848 (GRCm39) |
L747P |
probably damaging |
Het |
| Intu |
C |
T |
3: 40,627,053 (GRCm39) |
P278L |
probably benign |
Het |
| Kif27 |
A |
G |
13: 58,493,562 (GRCm39) |
I127T |
probably benign |
Het |
| Mogat1 |
T |
C |
1: 78,488,672 (GRCm39) |
V25A |
possibly damaging |
Het |
| Nop14 |
A |
G |
5: 34,814,088 (GRCm39) |
S157P |
probably damaging |
Het |
| Or5al6 |
A |
G |
2: 85,976,523 (GRCm39) |
I185T |
probably benign |
Het |
| Or5d39 |
T |
C |
2: 87,980,189 (GRCm39) |
H58R |
probably damaging |
Het |
| Or5k3 |
A |
T |
16: 58,969,363 (GRCm39) |
Y50F |
probably benign |
Het |
| Oxct2b |
T |
C |
4: 123,011,478 (GRCm39) |
L466P |
probably damaging |
Het |
| Padi6 |
A |
G |
4: 140,469,245 (GRCm39) |
C32R |
probably damaging |
Het |
| Pla2r1 |
A |
T |
2: 60,327,958 (GRCm39) |
Y501* |
probably null |
Het |
| Rb1cc1 |
G |
A |
1: 6,300,248 (GRCm39) |
V8I |
probably damaging |
Het |
| Rexo5 |
A |
G |
7: 119,426,621 (GRCm39) |
|
probably benign |
Het |
| Tmem119 |
T |
C |
5: 113,933,048 (GRCm39) |
E251G |
probably benign |
Het |
| Vmn2r112 |
T |
A |
17: 22,822,069 (GRCm39) |
M249K |
probably benign |
Het |
| Zc2hc1a |
A |
G |
3: 7,583,451 (GRCm39) |
T41A |
probably benign |
Het |
| Zfp128 |
A |
G |
7: 12,624,289 (GRCm39) |
D219G |
probably benign |
Het |
| Znrf2 |
T |
C |
6: 54,840,945 (GRCm39) |
V173A |
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- CTGTCTTATCTCAACACAAGTGAC -3'
(R):5'- AGTGTCACAAGGTCAAGTTCTC -3'
Sequencing Primer
(F):5'- TATCTCAACACAAGTGACAGATATCC -3'
(R):5'- GGTCAAGTTCTCAAACAACAAGAAG -3'
|
| Posted On |
2015-06-12 |
Incidental Mutation