Incidental Mutation 'R1571:Slco1a7'
ID |
186204 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Slco1a7
|
Ensembl Gene |
ENSMUSG00000084927 |
Gene Name |
solute carrier organic anion transporter family, member 1a7 |
Synonyms |
Gm5724 |
MMRRC Submission |
039610-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.057)
|
Stock # |
R1571 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
6 |
Chromosomal Location |
141653844-141719536 bp(-) (GRCm39) |
Type of Mutation |
nonsense |
DNA Base Change (assembly) |
A to T
at 141700135 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Cysteine to Stop codon
at position 132
(C132*)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000117177
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000148411]
|
AlphaFold |
L7N264 |
Predicted Effect |
probably null
Transcript: ENSMUST00000148411
AA Change: C132*
|
SMART Domains |
Protein: ENSMUSP00000117177 Gene: ENSMUSG00000084927 AA Change: C132*
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: 99.1%
- 3x: 98.4%
- 10x: 96.4%
- 20x: 92.8%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 54 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
2610524H06Rik |
A |
G |
5: 114,961,372 (GRCm39) |
|
probably null |
Het |
Abcd3 |
T |
C |
3: 121,586,491 (GRCm39) |
I70V |
possibly damaging |
Het |
Acad10 |
T |
C |
5: 121,759,411 (GRCm39) |
Y1024C |
probably damaging |
Het |
Atp2b3 |
T |
G |
X: 72,588,712 (GRCm39) |
V701G |
probably damaging |
Het |
Cbfa2t2 |
T |
A |
2: 154,342,347 (GRCm39) |
M21K |
probably damaging |
Het |
Cdc25a |
C |
T |
9: 109,710,614 (GRCm39) |
T106I |
possibly damaging |
Het |
Cdhr5 |
T |
C |
7: 140,852,083 (GRCm39) |
T190A |
probably damaging |
Het |
Chl1 |
A |
G |
6: 103,685,445 (GRCm39) |
T829A |
probably benign |
Het |
Clcn6 |
T |
C |
4: 148,097,226 (GRCm39) |
T614A |
possibly damaging |
Het |
Cntln |
A |
T |
4: 84,865,823 (GRCm39) |
R160* |
probably null |
Het |
Dclk2 |
C |
T |
3: 86,712,946 (GRCm39) |
R503Q |
possibly damaging |
Het |
Dock3 |
C |
A |
9: 106,815,158 (GRCm39) |
M1236I |
possibly damaging |
Het |
Eif4g3 |
T |
A |
4: 137,847,719 (GRCm39) |
H213Q |
probably damaging |
Het |
Eya1 |
T |
A |
1: 14,279,141 (GRCm39) |
H372L |
probably damaging |
Het |
Fam13b |
A |
G |
18: 34,630,485 (GRCm39) |
V91A |
possibly damaging |
Het |
Hat1 |
T |
A |
2: 71,264,519 (GRCm39) |
I319K |
probably benign |
Het |
Kcnf1 |
T |
C |
12: 17,225,853 (GRCm39) |
N123D |
probably benign |
Het |
Kcns3 |
C |
A |
12: 11,141,551 (GRCm39) |
G383W |
probably damaging |
Het |
Kprp |
A |
T |
3: 92,732,689 (GRCm39) |
C120* |
probably null |
Het |
Lama3 |
T |
A |
18: 12,672,774 (GRCm39) |
C2456S |
probably damaging |
Het |
Lrp1b |
A |
T |
2: 41,366,658 (GRCm39) |
D539E |
probably damaging |
Het |
Matn3 |
T |
C |
12: 9,005,466 (GRCm39) |
L292S |
probably damaging |
Het |
Mbd3l1 |
T |
A |
9: 18,395,947 (GRCm39) |
I24N |
probably damaging |
Het |
Med10 |
T |
C |
13: 69,958,159 (GRCm39) |
L37P |
probably damaging |
Het |
Mrc1 |
A |
T |
2: 14,313,544 (GRCm39) |
H925L |
probably damaging |
Het |
Myo15a |
T |
A |
11: 60,409,290 (GRCm39) |
I3219N |
probably damaging |
Het |
Nom1 |
C |
T |
5: 29,647,633 (GRCm39) |
Q623* |
probably null |
Het |
Nrm |
T |
A |
17: 36,175,079 (GRCm39) |
W136R |
probably damaging |
Het |
Or8h8 |
A |
C |
2: 86,753,789 (GRCm39) |
V29G |
probably benign |
Het |
Pde7b |
T |
C |
10: 20,288,836 (GRCm39) |
N298S |
probably benign |
Het |
Piezo2 |
C |
T |
18: 63,277,990 (GRCm39) |
A305T |
possibly damaging |
Het |
Pimreg |
T |
C |
11: 71,936,042 (GRCm39) |
L175P |
possibly damaging |
Het |
Pkhd1l1 |
A |
G |
15: 44,390,237 (GRCm39) |
D1451G |
probably benign |
Het |
Ptpro |
A |
G |
6: 137,355,128 (GRCm39) |
S212G |
probably benign |
Het |
Rhpn1 |
C |
T |
15: 75,585,967 (GRCm39) |
R627C |
possibly damaging |
Het |
Rif1 |
GCCACCA |
GCCA |
2: 52,000,336 (GRCm39) |
|
probably benign |
Het |
Rnase4 |
T |
G |
14: 51,342,497 (GRCm39) |
F74V |
probably damaging |
Het |
Sbno2 |
A |
G |
10: 79,896,226 (GRCm39) |
|
probably null |
Het |
Selp |
T |
C |
1: 163,954,176 (GRCm39) |
Y159H |
probably damaging |
Het |
Senp6 |
A |
G |
9: 80,000,853 (GRCm39) |
T21A |
probably damaging |
Het |
Slco3a1 |
T |
C |
7: 74,154,128 (GRCm39) |
D148G |
possibly damaging |
Het |
Smtn |
G |
A |
11: 3,480,102 (GRCm39) |
P373L |
probably benign |
Het |
Snx20 |
A |
T |
8: 89,356,597 (GRCm39) |
L73Q |
probably damaging |
Het |
Sobp |
A |
G |
10: 43,033,942 (GRCm39) |
V128A |
possibly damaging |
Het |
Tcerg1 |
A |
G |
18: 42,657,357 (GRCm39) |
T280A |
unknown |
Het |
Tgfbrap1 |
A |
G |
1: 43,088,973 (GRCm39) |
V810A |
probably benign |
Het |
Thbs1 |
C |
A |
2: 117,949,678 (GRCm39) |
D589E |
probably damaging |
Het |
Tjp2 |
A |
G |
19: 24,078,239 (GRCm39) |
Y885H |
probably damaging |
Het |
Tmem109 |
A |
G |
19: 10,849,993 (GRCm39) |
S100P |
probably damaging |
Het |
Trim36 |
T |
C |
18: 46,305,562 (GRCm39) |
K462E |
probably benign |
Het |
Vmn1r226 |
A |
T |
17: 20,908,538 (GRCm39) |
I257F |
probably damaging |
Het |
Vmn2r92 |
A |
G |
17: 18,372,352 (GRCm39) |
Y54C |
probably damaging |
Het |
Wdcp |
T |
A |
12: 4,901,924 (GRCm39) |
Y593* |
probably null |
Het |
Wdr59 |
T |
C |
8: 112,177,682 (GRCm39) |
S907G |
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 |
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 |
|
Predicted Primers |
PCR Primer
(F):5'- TTTGCCAAAGCGAACTGGGACG -3'
(R):5'- CTGGCTCTGGACACTCTCTTTTGAG -3'
Sequencing Primer
(F):5'- AGACTAACTCTATGGTGTTGCC -3'
(R):5'- TTGAGGGAAACAGAAGTCAGGAATC -3'
|
Posted On |
2014-05-09 |