Incidental Mutation 'R7627:Slco1a7'
| ID |
589495 |
| 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 # |
R7627 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
6 |
| Chromosomal Location |
141653844-141719536 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 141690271 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Isoleucine
at position 161
(V161I)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000117177
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000148411]
|
| AlphaFold |
L7N264 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000148411
AA Change: V161I
PolyPhen 2
Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000117177
Gene: ENSMUSG00000084927
AA Change: V161I
| 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: 100.0%
- 10x: 99.7%
- 20x: 99.0%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 45 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 9230112D13Rik |
T |
A |
14: 34,234,055 (GRCm39) |
I79L |
unknown |
Het |
| Acta2 |
G |
A |
19: 34,229,931 (GRCm39) |
T8I |
probably benign |
Het |
| Acvrl1 |
G |
A |
15: 101,033,747 (GRCm39) |
R143Q |
probably benign |
Het |
| Adam22 |
A |
G |
5: 8,417,933 (GRCm39) |
S8P |
probably benign |
Het |
| Ankrd11 |
A |
G |
8: 123,617,690 (GRCm39) |
I2054T |
possibly damaging |
Het |
| Cactin |
CCGGAGTCGGAGTCGGAGTCGGAGTCGGAGTCGGAG |
CCGGAGTCGGAGTCGGAGTCGGAGTCGGAGTCGGAGTCGGAG |
10: 81,157,152 (GRCm39) |
|
probably benign |
Het |
| Cad |
T |
A |
5: 31,217,508 (GRCm39) |
L354Q |
probably damaging |
Het |
| Ccdc15 |
A |
T |
9: 37,253,698 (GRCm39) |
C184S |
unknown |
Het |
| Ccl8 |
A |
G |
11: 82,006,865 (GRCm39) |
D26G |
probably benign |
Het |
| Ccsap |
T |
C |
8: 124,569,097 (GRCm39) |
Y248C |
probably damaging |
Het |
| Col5a1 |
T |
G |
2: 27,840,665 (GRCm39) |
Y271* |
probably null |
Het |
| Dnmt3b |
A |
G |
2: 153,519,500 (GRCm39) |
N695S |
probably benign |
Het |
| Dync1li2 |
A |
G |
8: 105,156,140 (GRCm39) |
C234R |
probably benign |
Het |
| Dync2h1 |
A |
T |
9: 7,101,111 (GRCm39) |
D2758E |
probably benign |
Het |
| Eif2ak3 |
A |
T |
6: 70,869,919 (GRCm39) |
T869S |
probably benign |
Het |
| Foxn4 |
G |
T |
5: 114,398,495 (GRCm39) |
P175H |
possibly damaging |
Het |
| Gbp5 |
T |
G |
3: 142,206,319 (GRCm39) |
M1R |
probably null |
Het |
| Glp2r |
G |
T |
11: 67,637,589 (GRCm39) |
L30I |
unknown |
Het |
| Gls |
A |
T |
1: 52,205,425 (GRCm39) |
D639E |
probably benign |
Het |
| Gm5145 |
G |
T |
17: 20,790,654 (GRCm39) |
E11* |
probably null |
Het |
| Gm9772 |
T |
A |
17: 22,226,160 (GRCm39) |
K41N |
probably damaging |
Het |
| Gnat3 |
A |
T |
5: 18,204,746 (GRCm39) |
D133V |
|
Het |
| Gse1 |
C |
A |
8: 121,299,516 (GRCm39) |
P849T |
unknown |
Het |
| H2ac15 |
C |
A |
13: 21,937,916 (GRCm39) |
V28L |
probably benign |
Het |
| Hoxb9 |
A |
G |
11: 96,165,521 (GRCm39) |
T197A |
probably damaging |
Het |
| Krt39 |
A |
G |
11: 99,405,575 (GRCm39) |
S442P |
possibly damaging |
Het |
| Leng9 |
A |
G |
7: 4,151,617 (GRCm39) |
L353P |
probably damaging |
Het |
| Mamdc2 |
A |
T |
19: 23,288,355 (GRCm39) |
M561K |
probably damaging |
Het |
| Mamdc4 |
A |
G |
2: 25,458,225 (GRCm39) |
V395A |
probably damaging |
Het |
| Mrpl32 |
G |
A |
13: 14,787,498 (GRCm39) |
R36C |
probably benign |
Het |
| Or6b2b |
A |
T |
1: 92,419,107 (GRCm39) |
Y123* |
probably null |
Het |
| Or7e168 |
A |
G |
9: 19,719,947 (GRCm39) |
D111G |
probably damaging |
Het |
| Papss1 |
T |
A |
3: 131,290,873 (GRCm39) |
D205E |
probably benign |
Het |
| Pdlim2 |
T |
C |
14: 70,408,924 (GRCm39) |
D151G |
probably benign |
Het |
| Pdxp |
T |
C |
15: 78,798,339 (GRCm39) |
V57A |
probably damaging |
Het |
| Plec |
T |
A |
15: 76,061,594 (GRCm39) |
E2781V |
probably damaging |
Het |
| Prr7 |
GCGCCGCCGCACGCGCACCCGCACCCACACCATCACGCACTGCCGCACCCACCGCCGCCGCAC |
GCGCCGCCGCAC |
13: 55,620,147 (GRCm39) |
|
probably benign |
Het |
| Rnf32 |
G |
A |
5: 29,402,948 (GRCm39) |
|
probably benign |
Het |
| Ryr2 |
A |
G |
13: 11,776,213 (GRCm39) |
V1108A |
possibly damaging |
Het |
| Slc4a8 |
A |
G |
15: 100,686,104 (GRCm39) |
H276R |
probably benign |
Het |
| Spta1 |
T |
A |
1: 174,032,944 (GRCm39) |
D1000E |
probably damaging |
Het |
| Sva |
C |
A |
6: 42,019,598 (GRCm39) |
Q153K |
unknown |
Het |
| Tmprss11d |
T |
C |
5: 86,457,365 (GRCm39) |
Y236C |
possibly damaging |
Het |
| Zfp160 |
T |
C |
17: 21,247,270 (GRCm39) |
S607P |
probably damaging |
Het |
| Zfp82 |
C |
A |
7: 29,756,147 (GRCm39) |
G312W |
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 |
|
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 |
|
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 |
|
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'- TCCATGATCCCAGACCTTGC -3'
(R):5'- ACTGAGTCCCTGTAAGTGAGG -3'
Sequencing Primer
(F):5'- TGATCCCAGACCTTGCATACC -3'
(R):5'- AATTGGCTCCAGTATGGCAC -3'
|
| Posted On |
2019-10-24 |
Incidental Mutation