Incidental Mutation 'R8824:Slco6c1'
ID |
673302 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Slco6c1
|
Ensembl Gene |
ENSMUSG00000026331 |
Gene Name |
solute carrier organic anion transporter family, member 6c1 |
Synonyms |
4933404A18Rik |
MMRRC Submission |
068657-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R8824 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
1 |
Chromosomal Location |
96986763-97056026 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to A
at 97055884 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Asparagine to Tyrosine
at position 6
(N6Y)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000027569
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000027569]
[ENSMUST00000189547]
|
AlphaFold |
Q8C0X7 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000027569
AA Change: N6Y
PolyPhen 2
Score 0.838 (Sensitivity: 0.84; Specificity: 0.93)
|
SMART Domains |
Protein: ENSMUSP00000027569 Gene: ENSMUSG00000026331 AA Change: N6Y
Domain | Start | End | E-Value | Type |
low complexity region
|
44 |
55 |
N/A |
INTRINSIC |
Pfam:OATP
|
95 |
654 |
3e-101 |
PFAM |
Pfam:MFS_1
|
207 |
474 |
6.5e-14 |
PFAM |
Pfam:Kazal_2
|
497 |
538 |
7.4e-10 |
PFAM |
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000189547
AA Change: N6Y
PolyPhen 2
Score 0.838 (Sensitivity: 0.84; Specificity: 0.93)
|
SMART Domains |
Protein: ENSMUSP00000140791 Gene: ENSMUSG00000026331 AA Change: N6Y
Domain | Start | End | E-Value | Type |
low complexity region
|
44 |
55 |
N/A |
INTRINSIC |
Pfam:OATP
|
93 |
197 |
7.4e-12 |
PFAM |
Pfam:MFS_1
|
99 |
457 |
2.2e-15 |
PFAM |
Pfam:OATP
|
192 |
638 |
2.5e-64 |
PFAM |
Pfam:Kazal_2
|
480 |
521 |
2.1e-8 |
PFAM |
|
Meta Mutation Damage Score |
0.1712 |
Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.5%
- 20x: 98.5%
|
Validation Efficiency |
100% (63/63) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 65 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Accsl |
A |
T |
2: 93,693,195 (GRCm39) |
V260D |
probably damaging |
Het |
Adora2a |
G |
A |
10: 75,162,013 (GRCm39) |
A51T |
probably damaging |
Het |
Afg1l |
G |
A |
10: 42,314,383 (GRCm39) |
P128S |
possibly damaging |
Het |
Ago4 |
C |
A |
4: 126,400,977 (GRCm39) |
V623L |
probably benign |
Het |
Akap11 |
A |
T |
14: 78,753,787 (GRCm39) |
N112K |
|
Het |
C1ra |
A |
T |
6: 124,494,654 (GRCm39) |
I306F |
probably damaging |
Het |
Ccdc73 |
A |
G |
2: 104,822,222 (GRCm39) |
N724D |
possibly damaging |
Het |
Cd248 |
A |
G |
19: 5,119,645 (GRCm39) |
I498V |
probably benign |
Het |
Clrn1 |
A |
T |
3: 58,792,314 (GRCm39) |
S50T |
probably benign |
Het |
Col7a1 |
A |
G |
9: 108,796,093 (GRCm39) |
K1553R |
unknown |
Het |
Cxcr6 |
A |
C |
9: 123,640,006 (GRCm39) |
T343P |
probably benign |
Het |
Cyp11b2 |
T |
A |
15: 74,727,914 (GRCm39) |
Q56L |
probably damaging |
Het |
Dip2a |
A |
G |
10: 76,114,320 (GRCm39) |
|
probably null |
Het |
Dnmbp |
A |
G |
19: 43,838,276 (GRCm39) |
V742A |
probably benign |
Het |
Dusp16 |
A |
T |
6: 134,716,732 (GRCm39) |
S192T |
probably benign |
Het |
Ehbp1 |
A |
T |
11: 22,182,053 (GRCm39) |
D87E |
probably damaging |
Het |
Fgl1 |
A |
G |
8: 41,652,748 (GRCm39) |
V150A |
probably benign |
Het |
Flt3 |
T |
C |
5: 147,271,673 (GRCm39) |
D873G |
probably damaging |
Het |
Gart |
T |
C |
16: 91,427,591 (GRCm39) |
D469G |
possibly damaging |
Het |
Gm28168 |
T |
G |
1: 117,875,625 (GRCm39) |
S85A |
probably benign |
Het |
Golgb1 |
A |
G |
16: 36,736,051 (GRCm39) |
D1807G |
probably benign |
Het |
Grm8 |
A |
G |
6: 27,761,351 (GRCm39) |
L291S |
probably damaging |
Het |
Gucy2d |
C |
T |
7: 98,092,676 (GRCm39) |
P18S |
possibly damaging |
Het |
Ifna15 |
C |
T |
4: 88,475,998 (GRCm39) |
C162Y |
probably damaging |
Het |
Iqub |
C |
A |
6: 24,479,307 (GRCm39) |
E412* |
probably null |
Het |
Krt4 |
T |
A |
15: 101,829,077 (GRCm39) |
D312V |
|
Het |
Krtap26-1 |
T |
C |
16: 88,444,324 (GRCm39) |
Y99C |
probably damaging |
Het |
Krtap26-1 |
A |
T |
16: 88,444,303 (GRCm39) |
I106N |
probably damaging |
Het |
Lipn |
T |
C |
19: 34,062,116 (GRCm39) |
I357T |
probably benign |
Het |
Lrrc14b |
A |
G |
13: 74,512,068 (GRCm39) |
L4P |
probably damaging |
Het |
Mrgpra9 |
A |
T |
7: 46,885,041 (GRCm39) |
C209S |
probably benign |
Het |
Myh7b |
A |
G |
2: 155,472,301 (GRCm39) |
N1291D |
probably benign |
Het |
Myo5a |
A |
G |
9: 75,074,328 (GRCm39) |
T746A |
probably damaging |
Het |
Myom2 |
A |
C |
8: 15,164,169 (GRCm39) |
E1021D |
possibly damaging |
Het |
Ncoa2 |
C |
T |
1: 13,247,409 (GRCm39) |
R338H |
probably benign |
Het |
Ncor2 |
A |
G |
5: 125,195,821 (GRCm39) |
F91L |
|
Het |
Neb |
C |
G |
2: 52,106,923 (GRCm39) |
A4407P |
probably damaging |
Het |
Or10u4 |
C |
T |
10: 129,801,661 (GRCm39) |
V297M |
probably damaging |
Het |
Or1j18 |
A |
T |
2: 36,625,203 (GRCm39) |
Y290F |
probably damaging |
Het |
Or4b1b |
A |
G |
2: 90,126,356 (GRCm39) |
I283T |
probably damaging |
Het |
Or5d47 |
A |
G |
2: 87,804,347 (GRCm39) |
F221L |
probably benign |
Het |
Or5p76 |
T |
G |
7: 108,122,350 (GRCm39) |
Y269S |
probably benign |
Het |
Or5w12 |
T |
C |
2: 87,502,304 (GRCm39) |
M136V |
possibly damaging |
Het |
Peg10 |
T |
TCCC |
6: 4,756,451 (GRCm39) |
|
probably benign |
Het |
Piwil4 |
C |
A |
9: 14,638,771 (GRCm39) |
K298N |
probably benign |
Het |
Prkcz |
G |
A |
4: 155,429,285 (GRCm39) |
|
probably benign |
Het |
Prkg2 |
G |
A |
5: 99,090,067 (GRCm39) |
P691L |
possibly damaging |
Het |
Ptprc |
T |
A |
1: 138,041,446 (GRCm39) |
K89* |
probably null |
Het |
Rapgef3 |
C |
T |
15: 97,664,789 (GRCm39) |
A25T |
probably benign |
Het |
Rreb1 |
C |
T |
13: 38,114,492 (GRCm39) |
T617I |
probably damaging |
Het |
Rsph1 |
A |
C |
17: 31,492,350 (GRCm39) |
V72G |
possibly damaging |
Het |
Shc2 |
A |
G |
10: 79,473,536 (GRCm39) |
V50A |
probably benign |
Het |
Slc38a9 |
G |
A |
13: 112,838,021 (GRCm39) |
R262H |
probably benign |
Het |
Smarca5 |
A |
G |
8: 81,431,961 (GRCm39) |
F886L |
probably benign |
Het |
Tas1r2 |
A |
G |
4: 139,381,074 (GRCm39) |
|
probably benign |
Het |
Tnrc6c |
T |
A |
11: 117,630,680 (GRCm39) |
|
probably benign |
Het |
Trim30b |
T |
A |
7: 104,007,113 (GRCm39) |
|
probably benign |
Het |
Trim55 |
T |
C |
3: 19,727,126 (GRCm39) |
S398P |
probably benign |
Het |
Ttc39c |
T |
A |
18: 12,820,003 (GRCm39) |
|
probably benign |
Het |
Ubxn10 |
A |
G |
4: 138,463,178 (GRCm39) |
|
probably null |
Het |
Usf3 |
A |
G |
16: 44,035,976 (GRCm39) |
N152S |
probably benign |
Het |
Vps13b |
T |
A |
15: 35,533,445 (GRCm39) |
V839E |
probably damaging |
Het |
Zeb1 |
T |
A |
18: 5,748,680 (GRCm39) |
|
probably benign |
Het |
Zfp780b |
T |
C |
7: 27,662,893 (GRCm39) |
Y554C |
probably benign |
Het |
Zhx2 |
C |
T |
15: 57,684,676 (GRCm39) |
T15I |
probably damaging |
Het |
|
Other mutations in Slco6c1 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00547:Slco6c1
|
APN |
1 |
97,015,674 (GRCm39) |
missense |
probably benign |
0.00 |
IGL00571:Slco6c1
|
APN |
1 |
97,015,676 (GRCm39) |
missense |
probably benign |
0.04 |
IGL01483:Slco6c1
|
APN |
1 |
97,055,832 (GRCm39) |
missense |
probably benign |
|
IGL01543:Slco6c1
|
APN |
1 |
97,053,553 (GRCm39) |
missense |
possibly damaging |
0.95 |
IGL01860:Slco6c1
|
APN |
1 |
97,003,548 (GRCm39) |
splice site |
probably benign |
|
IGL03106:Slco6c1
|
APN |
1 |
96,993,748 (GRCm39) |
splice site |
probably benign |
|
R0087:Slco6c1
|
UTSW |
1 |
97,046,303 (GRCm39) |
missense |
probably benign |
0.00 |
R0543:Slco6c1
|
UTSW |
1 |
97,055,623 (GRCm39) |
missense |
probably damaging |
0.99 |
R0674:Slco6c1
|
UTSW |
1 |
97,032,498 (GRCm39) |
splice site |
probably benign |
|
R0826:Slco6c1
|
UTSW |
1 |
97,055,826 (GRCm39) |
missense |
probably benign |
0.00 |
R0928:Slco6c1
|
UTSW |
1 |
97,032,573 (GRCm39) |
missense |
possibly damaging |
0.88 |
R0969:Slco6c1
|
UTSW |
1 |
97,047,685 (GRCm39) |
missense |
probably benign |
0.05 |
R1366:Slco6c1
|
UTSW |
1 |
97,055,928 (GRCm39) |
start gained |
probably null |
|
R1559:Slco6c1
|
UTSW |
1 |
97,026,223 (GRCm39) |
missense |
probably damaging |
1.00 |
R1594:Slco6c1
|
UTSW |
1 |
96,990,163 (GRCm39) |
missense |
probably benign |
0.36 |
R1901:Slco6c1
|
UTSW |
1 |
97,000,707 (GRCm39) |
missense |
probably damaging |
0.98 |
R2005:Slco6c1
|
UTSW |
1 |
97,009,214 (GRCm39) |
missense |
probably damaging |
0.99 |
R2101:Slco6c1
|
UTSW |
1 |
97,000,595 (GRCm39) |
nonsense |
probably null |
|
R2102:Slco6c1
|
UTSW |
1 |
97,055,656 (GRCm39) |
missense |
probably benign |
0.02 |
R2120:Slco6c1
|
UTSW |
1 |
96,993,808 (GRCm39) |
missense |
possibly damaging |
0.57 |
R2135:Slco6c1
|
UTSW |
1 |
97,032,542 (GRCm39) |
missense |
probably benign |
0.01 |
R2295:Slco6c1
|
UTSW |
1 |
97,053,473 (GRCm39) |
missense |
probably damaging |
1.00 |
R2437:Slco6c1
|
UTSW |
1 |
96,990,201 (GRCm39) |
missense |
probably benign |
0.22 |
R4004:Slco6c1
|
UTSW |
1 |
97,003,610 (GRCm39) |
missense |
probably damaging |
1.00 |
R4133:Slco6c1
|
UTSW |
1 |
97,009,218 (GRCm39) |
missense |
probably benign |
0.02 |
R4643:Slco6c1
|
UTSW |
1 |
96,990,149 (GRCm39) |
missense |
probably benign |
0.00 |
R4786:Slco6c1
|
UTSW |
1 |
97,015,720 (GRCm39) |
missense |
probably benign |
0.04 |
R4942:Slco6c1
|
UTSW |
1 |
97,009,049 (GRCm39) |
missense |
probably damaging |
1.00 |
R5485:Slco6c1
|
UTSW |
1 |
97,053,481 (GRCm39) |
missense |
probably damaging |
1.00 |
R5573:Slco6c1
|
UTSW |
1 |
97,055,656 (GRCm39) |
missense |
probably benign |
0.00 |
R5810:Slco6c1
|
UTSW |
1 |
97,003,598 (GRCm39) |
missense |
probably damaging |
1.00 |
R6033:Slco6c1
|
UTSW |
1 |
97,009,041 (GRCm39) |
splice site |
probably null |
|
R6033:Slco6c1
|
UTSW |
1 |
97,009,041 (GRCm39) |
splice site |
probably null |
|
R6191:Slco6c1
|
UTSW |
1 |
96,993,808 (GRCm39) |
missense |
possibly damaging |
0.57 |
R6197:Slco6c1
|
UTSW |
1 |
97,000,518 (GRCm39) |
critical splice donor site |
probably null |
|
R6286:Slco6c1
|
UTSW |
1 |
97,053,445 (GRCm39) |
missense |
possibly damaging |
0.90 |
R6404:Slco6c1
|
UTSW |
1 |
97,046,330 (GRCm39) |
missense |
probably damaging |
1.00 |
R6430:Slco6c1
|
UTSW |
1 |
97,003,699 (GRCm39) |
missense |
probably benign |
0.43 |
R6492:Slco6c1
|
UTSW |
1 |
97,053,538 (GRCm39) |
missense |
probably damaging |
0.99 |
R6649:Slco6c1
|
UTSW |
1 |
97,053,436 (GRCm39) |
missense |
probably benign |
0.44 |
R6940:Slco6c1
|
UTSW |
1 |
97,000,626 (GRCm39) |
missense |
possibly damaging |
0.80 |
R7138:Slco6c1
|
UTSW |
1 |
97,047,706 (GRCm39) |
missense |
possibly damaging |
0.95 |
R7213:Slco6c1
|
UTSW |
1 |
97,055,671 (GRCm39) |
missense |
probably benign |
|
R7234:Slco6c1
|
UTSW |
1 |
97,053,466 (GRCm39) |
missense |
probably benign |
0.06 |
R7320:Slco6c1
|
UTSW |
1 |
97,055,887 (GRCm39) |
missense |
possibly damaging |
0.83 |
R7375:Slco6c1
|
UTSW |
1 |
97,009,146 (GRCm39) |
missense |
possibly damaging |
0.58 |
R7383:Slco6c1
|
UTSW |
1 |
97,003,608 (GRCm39) |
nonsense |
probably null |
|
R7422:Slco6c1
|
UTSW |
1 |
97,009,207 (GRCm39) |
missense |
probably benign |
0.17 |
R7491:Slco6c1
|
UTSW |
1 |
97,055,579 (GRCm39) |
missense |
probably benign |
0.32 |
R7561:Slco6c1
|
UTSW |
1 |
97,000,691 (GRCm39) |
missense |
probably damaging |
1.00 |
R7890:Slco6c1
|
UTSW |
1 |
96,990,192 (GRCm39) |
missense |
possibly damaging |
0.59 |
R8115:Slco6c1
|
UTSW |
1 |
97,000,686 (GRCm39) |
missense |
probably damaging |
1.00 |
R8409:Slco6c1
|
UTSW |
1 |
97,003,663 (GRCm39) |
missense |
probably damaging |
0.99 |
R8422:Slco6c1
|
UTSW |
1 |
97,053,508 (GRCm39) |
missense |
probably damaging |
1.00 |
R8905:Slco6c1
|
UTSW |
1 |
97,053,391 (GRCm39) |
missense |
possibly damaging |
0.68 |
R9183:Slco6c1
|
UTSW |
1 |
96,996,775 (GRCm39) |
critical splice acceptor site |
probably null |
|
R9300:Slco6c1
|
UTSW |
1 |
96,993,809 (GRCm39) |
missense |
probably benign |
0.37 |
R9359:Slco6c1
|
UTSW |
1 |
96,990,248 (GRCm39) |
missense |
possibly damaging |
0.94 |
R9374:Slco6c1
|
UTSW |
1 |
97,055,827 (GRCm39) |
missense |
probably benign |
0.00 |
R9403:Slco6c1
|
UTSW |
1 |
96,990,248 (GRCm39) |
missense |
possibly damaging |
0.94 |
R9499:Slco6c1
|
UTSW |
1 |
97,055,827 (GRCm39) |
missense |
probably benign |
0.00 |
R9551:Slco6c1
|
UTSW |
1 |
97,055,827 (GRCm39) |
missense |
probably benign |
0.00 |
R9674:Slco6c1
|
UTSW |
1 |
97,047,565 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Predicted Primers |
PCR Primer
(F):5'- CCTTGGAAGCACTGTATCTTGG -3'
(R):5'- ACTTGGAACTTCTGCCGCATC -3'
Sequencing Primer
(F):5'- GGATCTATTAACAACAGTTCGGCAC -3'
(R):5'- TGCCGCATCATTCTGTAGGGAC -3'
|
Posted On |
2021-07-15 |