Incidental Mutation 'R8115:Slco6c1'
| ID |
631108 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Slco6c1
|
| Ensembl Gene |
ENSMUSG00000026331 |
| Gene Name |
solute carrier organic anion transporter family, member 6c1 |
| Synonyms |
4933404A18Rik |
| MMRRC Submission |
067544-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R8115 (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 97000686 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Phenylalanine
at position 539
(I539F)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000027569
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000027569]
[ENSMUST00000189547]
|
| AlphaFold |
Q8C0X7 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000027569
AA Change: I539F
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000027569
Gene: ENSMUSG00000026331
AA Change: I539F
| 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 |
probably damaging
Transcript: ENSMUST00000189547
AA Change: I522F
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000140791
Gene: ENSMUSG00000026331
AA Change: I522F
| 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 |
0.2458 |
| Coding Region Coverage |
- 1x: 99.7%
- 3x: 99.5%
- 10x: 98.4%
- 20x: 94.2%
|
| Validation Efficiency |
100% (68/68) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 68 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| A1bg |
T |
G |
15: 60,791,996 (GRCm39) |
I211L |
probably benign |
Het |
| Abhd16b |
G |
A |
2: 181,135,527 (GRCm39) |
R143H |
possibly damaging |
Het |
| Abt1 |
T |
C |
13: 23,606,402 (GRCm39) |
E184G |
probably damaging |
Het |
| Aqp1 |
AGG |
AGGG |
6: 55,322,498 (GRCm39) |
|
probably null |
Het |
| Asxl3 |
G |
A |
18: 22,650,642 (GRCm39) |
R877Q |
probably damaging |
Het |
| B3galt1 |
A |
G |
2: 67,948,320 (GRCm39) |
T12A |
possibly damaging |
Het |
| Bcat1 |
G |
A |
6: 144,955,819 (GRCm39) |
P354L |
probably damaging |
Het |
| C9orf72 |
T |
C |
4: 35,218,763 (GRCm39) |
Y32C |
|
Het |
| Cad |
T |
C |
5: 31,218,271 (GRCm39) |
F452L |
possibly damaging |
Het |
| Cadps2 |
T |
A |
6: 23,328,897 (GRCm39) |
I973F |
probably benign |
Het |
| Cenpq |
T |
C |
17: 41,243,720 (GRCm39) |
N43D |
probably damaging |
Het |
| Chd9 |
G |
T |
8: 91,762,960 (GRCm39) |
V2262L |
probably damaging |
Het |
| Cttnbp2nl |
G |
T |
3: 104,913,402 (GRCm39) |
Q161K |
probably damaging |
Het |
| D630003M21Rik |
A |
T |
2: 158,058,510 (GRCm39) |
H463Q |
probably benign |
Het |
| Defb1 |
C |
T |
8: 22,284,500 (GRCm39) |
H40Y |
probably benign |
Het |
| Dmrtb1 |
A |
T |
4: 107,534,256 (GRCm39) |
D186E |
probably benign |
Het |
| Dsc2 |
C |
T |
18: 20,165,331 (GRCm39) |
G881R |
possibly damaging |
Het |
| Efr3a |
T |
A |
15: 65,738,644 (GRCm39) |
F758I |
probably damaging |
Het |
| Fap |
A |
G |
2: 62,349,385 (GRCm39) |
I501T |
probably benign |
Het |
| Galr3 |
C |
T |
15: 78,927,524 (GRCm39) |
R322* |
probably null |
Het |
| Hrnr |
C |
A |
3: 93,231,039 (GRCm39) |
R426S |
unknown |
Het |
| Hsp90ab1 |
A |
T |
17: 45,880,201 (GRCm39) |
M476K |
possibly damaging |
Het |
| Igsf3 |
G |
T |
3: 101,362,595 (GRCm39) |
R872L |
probably benign |
Het |
| Ippk |
C |
T |
13: 49,599,818 (GRCm39) |
P226S |
|
Het |
| Iqsec3 |
T |
G |
6: 121,449,989 (GRCm39) |
R178S |
unknown |
Het |
| Itgbl1 |
T |
C |
14: 124,094,955 (GRCm39) |
C327R |
probably damaging |
Het |
| Itsn2 |
A |
T |
12: 4,723,602 (GRCm39) |
Q1179L |
possibly damaging |
Het |
| Kcnb2 |
T |
C |
1: 15,781,851 (GRCm39) |
*908R |
probably null |
Het |
| Kdm5b |
G |
T |
1: 134,547,411 (GRCm39) |
W1020L |
possibly damaging |
Het |
| Kpna3 |
C |
A |
14: 61,608,367 (GRCm39) |
V364L |
probably damaging |
Het |
| Lsm14a |
T |
C |
7: 34,074,662 (GRCm39) |
I93V |
probably benign |
Het |
| Mast2 |
A |
G |
4: 116,292,644 (GRCm39) |
S109P |
probably benign |
Het |
| Muc4 |
G |
A |
16: 32,575,678 (GRCm39) |
S1726N |
unknown |
Het |
| Myo7a |
T |
C |
7: 97,715,653 (GRCm39) |
D1477G |
probably damaging |
Het |
| Nostrin |
G |
A |
2: 69,011,264 (GRCm39) |
|
probably null |
Het |
| Oasl1 |
T |
A |
5: 115,074,996 (GRCm39) |
V352E |
probably damaging |
Het |
| Or9a2 |
T |
A |
6: 41,748,472 (GRCm39) |
T254S |
probably benign |
Het |
| Pafah1b1 |
A |
G |
11: 74,575,319 (GRCm39) |
V195A |
probably damaging |
Het |
| Pcdhb4 |
G |
A |
18: 37,442,453 (GRCm39) |
V588M |
probably damaging |
Het |
| Pcsk5 |
A |
G |
19: 17,487,530 (GRCm39) |
|
probably null |
Het |
| Peg10 |
A |
G |
6: 4,756,707 (GRCm39) |
I428V |
unknown |
Het |
| Pmfbp1 |
G |
A |
8: 110,263,669 (GRCm39) |
V824M |
probably damaging |
Het |
| Prkag3 |
T |
C |
1: 74,787,118 (GRCm39) |
R47G |
possibly damaging |
Het |
| Prl8a1 |
T |
A |
13: 27,758,028 (GRCm39) |
H227L |
probably benign |
Het |
| Prune2 |
A |
G |
19: 17,101,288 (GRCm39) |
D2264G |
probably benign |
Het |
| Psg28 |
A |
G |
7: 18,164,311 (GRCm39) |
Y134H |
probably benign |
Het |
| Rab3gap2 |
T |
A |
1: 184,999,447 (GRCm39) |
Y1019N |
possibly damaging |
Het |
| Rbm15 |
A |
T |
3: 107,238,966 (GRCm39) |
F477L |
probably damaging |
Het |
| Ric1 |
A |
T |
19: 29,563,973 (GRCm39) |
N576Y |
probably damaging |
Het |
| S1pr1 |
T |
A |
3: 115,506,298 (GRCm39) |
T99S |
probably benign |
Het |
| Serpinb9b |
G |
T |
13: 33,219,531 (GRCm39) |
V153F |
probably null |
Het |
| Sh2d3c |
A |
G |
2: 32,615,276 (GRCm39) |
E122G |
probably benign |
Het |
| Slc6a11 |
T |
A |
6: 114,108,442 (GRCm39) |
W69R |
probably damaging |
Het |
| Smgc |
G |
T |
15: 91,733,322 (GRCm39) |
|
probably null |
Het |
| Spata17 |
T |
C |
1: 186,849,653 (GRCm39) |
Y194C |
probably damaging |
Het |
| Tap1 |
A |
T |
17: 34,412,293 (GRCm39) |
|
probably null |
Het |
| Topbp1 |
T |
C |
9: 103,197,740 (GRCm39) |
S440P |
probably benign |
Het |
| Trpc6 |
T |
C |
9: 8,609,982 (GRCm39) |
L150P |
probably damaging |
Het |
| Ttll4 |
C |
T |
1: 74,726,489 (GRCm39) |
Q696* |
probably null |
Het |
| Ubash3b |
C |
T |
9: 40,937,624 (GRCm39) |
E447K |
probably damaging |
Het |
| Unc5cl |
T |
C |
17: 48,774,438 (GRCm39) |
S477P |
possibly damaging |
Het |
| Unc80 |
A |
G |
1: 66,688,072 (GRCm39) |
T2357A |
probably benign |
Het |
| Vmn1r58 |
A |
T |
7: 5,413,341 (GRCm39) |
S296R |
probably benign |
Het |
| Vmn2r85 |
G |
T |
10: 130,261,820 (GRCm39) |
N172K |
probably benign |
Het |
| Wdfy4 |
G |
A |
14: 32,826,072 (GRCm39) |
P1193L |
|
Het |
| Yipf7 |
T |
A |
5: 69,684,570 (GRCm39) |
T82S |
probably benign |
Het |
| Zap70 |
A |
G |
1: 36,820,287 (GRCm39) |
S523G |
probably damaging |
Het |
| Zfp354a |
A |
G |
11: 50,960,490 (GRCm39) |
T233A |
probably benign |
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 |
|
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 |
|
R8824:Slco6c1
|
UTSW |
1 |
97,055,884 (GRCm39) |
missense |
possibly damaging |
0.84 |
|
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'- TCCTTAATCGTGTGTAGATACCTAC -3'
(R):5'- TAGGGACACATAGAAGGCTTTG -3'
Sequencing Primer
(F):5'- AGTGAGACTAACTGTAGCATCTATAC -3'
(R):5'- GGGGAAAAGACATGATTACATATCAC -3'
|
| Posted On |
2020-06-30 |
Incidental Mutation