Incidental Mutation 'R3551:Slco1a7'
ID |
268337 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Slco1a7
|
Ensembl Gene |
ENSMUSG00000084927 |
Gene Name |
solute carrier organic anion transporter family, member 1a7 |
Synonyms |
Gm5724 |
MMRRC Submission |
040668-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.057)
|
Stock # |
R3551 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
6 |
Chromosomal Location |
141653844-141719536 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 141654322 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Lysine to Glutamic Acid
at position 647
(K647E)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000117177
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000148411]
|
AlphaFold |
L7N264 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000148411
AA Change: K647E
PolyPhen 2
Score 0.204 (Sensitivity: 0.92; Specificity: 0.88)
|
SMART Domains |
Protein: ENSMUSP00000117177 Gene: ENSMUSG00000084927 AA Change: K647E
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 |
0.0831 |
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 97.1%
- 20x: 94.4%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 45 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Acaca |
T |
A |
11: 84,152,450 (GRCm39) |
Y866N |
probably damaging |
Het |
Adam24 |
G |
C |
8: 41,132,632 (GRCm39) |
W33C |
probably benign |
Het |
Adgrl2 |
A |
T |
3: 148,564,599 (GRCm39) |
V327E |
probably damaging |
Het |
Aqp7 |
T |
A |
4: 41,045,329 (GRCm39) |
N17I |
probably benign |
Het |
Bicra |
T |
A |
7: 15,713,658 (GRCm39) |
Q848L |
probably benign |
Het |
C4b |
T |
C |
17: 34,960,846 (GRCm39) |
E240G |
possibly damaging |
Het |
Ccni |
T |
C |
5: 93,335,620 (GRCm39) |
S173G |
probably benign |
Het |
Clca3a2 |
T |
A |
3: 144,508,842 (GRCm39) |
N50I |
probably damaging |
Het |
Dcaf7 |
A |
G |
11: 105,945,622 (GRCm39) |
T324A |
probably benign |
Het |
Dnah12 |
G |
A |
14: 26,492,929 (GRCm39) |
R1230H |
probably benign |
Het |
Dsg4 |
G |
A |
18: 20,584,813 (GRCm39) |
V176M |
probably damaging |
Het |
Ect2l |
A |
G |
10: 18,039,141 (GRCm39) |
I339T |
probably damaging |
Het |
Edc4 |
A |
T |
8: 106,612,126 (GRCm39) |
I138F |
probably damaging |
Het |
Ercc6l2 |
T |
A |
13: 63,992,409 (GRCm39) |
V401E |
probably damaging |
Het |
Gm3269 |
T |
A |
14: 16,033,003 (GRCm39) |
V260D |
possibly damaging |
Het |
Gm4076 |
C |
T |
13: 85,275,269 (GRCm39) |
|
noncoding transcript |
Het |
Gm4922 |
A |
T |
10: 18,660,244 (GRCm39) |
N159K |
probably benign |
Het |
Gm5134 |
G |
T |
10: 75,836,281 (GRCm39) |
A421S |
probably benign |
Het |
Hrc |
G |
C |
7: 44,985,757 (GRCm39) |
E303Q |
possibly damaging |
Het |
Ipo4 |
A |
G |
14: 55,870,560 (GRCm39) |
V288A |
probably benign |
Het |
Kng2 |
A |
G |
16: 22,830,745 (GRCm39) |
|
probably null |
Het |
Lrfn1 |
T |
C |
7: 28,159,479 (GRCm39) |
L466P |
possibly damaging |
Het |
Magi1 |
T |
A |
6: 93,676,610 (GRCm39) |
K916N |
probably damaging |
Het |
Mms19 |
T |
C |
19: 41,938,237 (GRCm39) |
T720A |
probably benign |
Het |
Muc5b |
A |
G |
7: 141,415,072 (GRCm39) |
T2673A |
possibly damaging |
Het |
Myo15a |
C |
T |
11: 60,400,489 (GRCm39) |
A1767V |
possibly damaging |
Het |
Npas2 |
A |
T |
1: 39,326,643 (GRCm39) |
M43L |
probably benign |
Het |
Nup43 |
A |
G |
10: 7,550,778 (GRCm39) |
D216G |
possibly damaging |
Het |
Or1e19 |
T |
C |
11: 73,316,678 (GRCm39) |
I44V |
probably benign |
Het |
Orc4 |
G |
A |
2: 48,827,501 (GRCm39) |
P31S |
probably benign |
Het |
Pcdhga6 |
G |
T |
18: 37,841,270 (GRCm39) |
R330L |
probably benign |
Het |
Pear1 |
A |
G |
3: 87,665,439 (GRCm39) |
F145L |
probably benign |
Het |
Pgap1 |
A |
G |
1: 54,569,302 (GRCm39) |
S355P |
possibly damaging |
Het |
Prr14l |
A |
T |
5: 32,985,963 (GRCm39) |
|
probably null |
Het |
Ptpn12 |
T |
C |
5: 21,194,047 (GRCm39) |
K742E |
possibly damaging |
Het |
Ryr1 |
T |
A |
7: 28,756,422 (GRCm39) |
Q3464L |
probably damaging |
Het |
Sema4c |
G |
C |
1: 36,592,804 (GRCm39) |
T138S |
probably benign |
Het |
Slc4a2 |
C |
T |
5: 24,635,099 (GRCm39) |
T168M |
probably benign |
Het |
Spice1 |
G |
T |
16: 44,178,232 (GRCm39) |
S85I |
probably damaging |
Het |
Thrb |
T |
A |
14: 17,963,214 (GRCm38) |
I59N |
probably damaging |
Het |
Trav7-1 |
A |
G |
14: 52,892,756 (GRCm39) |
D103G |
probably damaging |
Het |
Ubap2l |
G |
T |
3: 89,922,758 (GRCm39) |
T766N |
unknown |
Het |
Zfp692 |
C |
T |
11: 58,200,254 (GRCm39) |
T170I |
possibly damaging |
Het |
Zfp704 |
A |
G |
3: 9,539,585 (GRCm39) |
V255A |
probably damaging |
Het |
Zfp759 |
T |
C |
13: 67,287,031 (GRCm39) |
V194A |
probably benign |
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 |
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 |
|
Predicted Primers |
PCR Primer
(F):5'- GTTTCCATACAAGTCTTCCCTGGG -3'
(R):5'- AGCTTTCGCTGAACACATTAAG -3'
Sequencing Primer
(F):5'- GTCTTCCCTGGGAAAAATCTTAAGC -3'
(R):5'- AGATTTAATGCTGATGAGTTCTGTTC -3'
|
Posted On |
2015-02-19 |