Incidental Mutation 'R3196:Slco1c1'
| ID |
475732 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Slco1c1
|
| Ensembl Gene |
ENSMUSG00000030235 |
| Gene Name |
solute carrier organic anion transporter family, member 1c1 |
| Synonyms |
OATP-F, Slc21a14 |
| MMRRC Submission |
040617-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.108)
|
| Stock # |
R3196 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
6 |
| Chromosomal Location |
141470094-141515903 bp(+) (GRCm39) |
| Type of Mutation |
splice site |
| DNA Base Change (assembly) |
T to A
at 141477174 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000144889
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000032362]
[ENSMUST00000032362]
[ENSMUST00000135562]
[ENSMUST00000135562]
[ENSMUST00000203140]
[ENSMUST00000204998]
[ENSMUST00000204998]
[ENSMUST00000205214]
[ENSMUST00000205214]
[ENSMUST00000205214]
[ENSMUST00000205214]
|
| AlphaFold |
Q9ERB5 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000032362
|
| SMART Domains |
Protein: ENSMUSP00000032362
Gene: ENSMUSG00000030235
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
134 |
148 |
N/A |
INTRINSIC |
|
low complexity region
|
152 |
168 |
N/A |
INTRINSIC |
|
Pfam:MFS_1
|
181 |
464 |
1.1e-19 |
PFAM |
|
KAZAL
|
478 |
518 |
1.21e0 |
SMART |
|
transmembrane domain
|
644 |
666 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000032362
|
| SMART Domains |
Protein: ENSMUSP00000032362
Gene: ENSMUSG00000030235
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
134 |
148 |
N/A |
INTRINSIC |
|
low complexity region
|
152 |
168 |
N/A |
INTRINSIC |
|
Pfam:MFS_1
|
181 |
464 |
1.1e-19 |
PFAM |
|
KAZAL
|
478 |
518 |
1.21e0 |
SMART |
|
transmembrane domain
|
644 |
666 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000135562
|
| SMART Domains |
Protein: ENSMUSP00000138093
Gene: ENSMUSG00000030235
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:OATP
|
42 |
469 |
2.1e-135 |
PFAM |
|
Pfam:Sugar_tr
|
175 |
460 |
2.9e-7 |
PFAM |
|
Pfam:MFS_1
|
181 |
463 |
3.8e-20 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000135562
|
| SMART Domains |
Protein: ENSMUSP00000138093
Gene: ENSMUSG00000030235
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:OATP
|
42 |
469 |
2.1e-135 |
PFAM |
|
Pfam:Sugar_tr
|
175 |
460 |
2.9e-7 |
PFAM |
|
Pfam:MFS_1
|
181 |
463 |
3.8e-20 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000203140
|
| SMART Domains |
Protein: ENSMUSP00000145058
Gene: ENSMUSG00000030235
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
16 |
30 |
N/A |
INTRINSIC |
|
low complexity region
|
34 |
50 |
N/A |
INTRINSIC |
|
Pfam:MFS_1
|
63 |
346 |
2e-18 |
PFAM |
|
KAZAL
|
360 |
400 |
7.8e-3 |
SMART |
|
transmembrane domain
|
437 |
459 |
N/A |
INTRINSIC |
|
transmembrane domain
|
474 |
496 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000204998
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000204998
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000205214
|
| SMART Domains |
Protein: ENSMUSP00000144889
Gene: ENSMUSG00000030235
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:OATP
|
44 |
176 |
1.3e-35 |
PFAM |
|
Pfam:MFS_1
|
169 |
415 |
1.1e-10 |
PFAM |
|
KAZAL
|
429 |
469 |
7.8e-3 |
SMART |
|
transmembrane domain
|
509 |
531 |
N/A |
INTRINSIC |
|
transmembrane domain
|
544 |
566 |
N/A |
INTRINSIC |
|
transmembrane domain
|
595 |
617 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000205214
|
| SMART Domains |
Protein: ENSMUSP00000144889
Gene: ENSMUSG00000030235
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:OATP
|
44 |
176 |
1.3e-35 |
PFAM |
|
Pfam:MFS_1
|
169 |
415 |
1.1e-10 |
PFAM |
|
KAZAL
|
429 |
469 |
7.8e-3 |
SMART |
|
transmembrane domain
|
509 |
531 |
N/A |
INTRINSIC |
|
transmembrane domain
|
544 |
566 |
N/A |
INTRINSIC |
|
transmembrane domain
|
595 |
617 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000205214
|
| SMART Domains |
Protein: ENSMUSP00000144889
Gene: ENSMUSG00000030235
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:OATP
|
44 |
176 |
1.3e-35 |
PFAM |
|
Pfam:MFS_1
|
169 |
415 |
1.1e-10 |
PFAM |
|
KAZAL
|
429 |
469 |
7.8e-3 |
SMART |
|
transmembrane domain
|
509 |
531 |
N/A |
INTRINSIC |
|
transmembrane domain
|
544 |
566 |
N/A |
INTRINSIC |
|
transmembrane domain
|
595 |
617 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000205214
|
| SMART Domains |
Protein: ENSMUSP00000144889
Gene: ENSMUSG00000030235
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:OATP
|
44 |
176 |
1.3e-35 |
PFAM |
|
Pfam:MFS_1
|
169 |
415 |
1.1e-10 |
PFAM |
|
KAZAL
|
429 |
469 |
7.8e-3 |
SMART |
|
transmembrane domain
|
509 |
531 |
N/A |
INTRINSIC |
|
transmembrane domain
|
544 |
566 |
N/A |
INTRINSIC |
|
transmembrane domain
|
595 |
617 |
N/A |
INTRINSIC |
|
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.6%
- 10x: 97.3%
- 20x: 95.1%
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the organic anion transporter family. The encoded protein is a transmembrane receptor that mediates the sodium-independent uptake of thyroid hormones in brain tissues. This protein has particularly high affinity for the thyroid hormones thyroxine, tri-iodothyronine and reverse tri-iodothyronine. Polymorphisms in the gene encoding this protein may be associated with fatigue and depression in patients suffering from hyperthyroidism. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Mar 2009]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit decreased thyroxine and triiodothyronine levels in the forebrain, in the absence of overt growth, reproductive or neurological abnormalities. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 67 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 9130401M01Rik |
A |
T |
15: 57,892,132 (GRCm39) |
N158K |
probably benign |
Het |
| Acnat1 |
G |
C |
4: 49,447,457 (GRCm39) |
P357A |
probably damaging |
Het |
| Akap6 |
T |
A |
12: 53,119,240 (GRCm39) |
C1102* |
probably null |
Het |
| Amelx |
T |
C |
X: 167,964,826 (GRCm39) |
|
probably benign |
Het |
| Brap |
G |
A |
5: 121,803,259 (GRCm39) |
V136I |
possibly damaging |
Het |
| Crygs |
C |
T |
16: 22,624,301 (GRCm39) |
G102D |
possibly damaging |
Het |
| Csgalnact1 |
TGG |
TG |
8: 68,913,737 (GRCm39) |
|
probably null |
Het |
| Csk |
A |
T |
9: 57,537,556 (GRCm39) |
C119* |
probably null |
Het |
| Dcbld1 |
T |
C |
10: 52,195,587 (GRCm39) |
L265P |
probably damaging |
Het |
| Desi1 |
T |
A |
15: 81,887,976 (GRCm39) |
K31N |
probably damaging |
Het |
| Dpy19l2 |
C |
A |
9: 24,607,285 (GRCm39) |
G59C |
probably damaging |
Het |
| Eif2b5 |
T |
C |
16: 20,324,272 (GRCm39) |
V498A |
probably benign |
Het |
| Epdr1 |
A |
T |
13: 19,778,815 (GRCm39) |
Y94N |
probably damaging |
Het |
| Fat1 |
T |
C |
8: 45,404,905 (GRCm39) |
V552A |
probably benign |
Het |
| Focad |
A |
G |
4: 88,325,588 (GRCm39) |
E151G |
possibly damaging |
Het |
| Frem1 |
A |
G |
4: 82,932,351 (GRCm39) |
F117L |
probably damaging |
Het |
| Frem2 |
A |
T |
3: 53,444,752 (GRCm39) |
Y2460N |
probably damaging |
Het |
| Gm3604 |
A |
T |
13: 62,517,868 (GRCm39) |
C163* |
probably null |
Het |
| Gpalpp1 |
A |
C |
14: 76,336,063 (GRCm39) |
|
probably null |
Het |
| Grid2ip |
A |
G |
5: 143,373,933 (GRCm39) |
I858V |
probably damaging |
Het |
| Grin2b |
ATTGTTGT |
ATTGT |
6: 135,709,453 (GRCm39) |
|
probably benign |
Het |
| Hps4 |
A |
G |
5: 112,512,429 (GRCm39) |
T182A |
probably damaging |
Het |
| Impa1 |
A |
T |
3: 10,394,075 (GRCm39) |
|
probably null |
Het |
| Kcnh3 |
T |
C |
15: 99,131,862 (GRCm39) |
S606P |
probably damaging |
Het |
| Kif23 |
T |
A |
9: 61,839,193 (GRCm39) |
R301* |
probably null |
Het |
| Kirrel1 |
C |
T |
3: 86,996,458 (GRCm39) |
M380I |
probably null |
Het |
| Lcp2 |
G |
T |
11: 34,040,670 (GRCm39) |
A529S |
probably benign |
Het |
| Lhx8 |
G |
A |
3: 154,035,925 (GRCm39) |
A22V |
probably benign |
Het |
| Lin28a |
A |
T |
4: 133,735,235 (GRCm39) |
S134T |
possibly damaging |
Het |
| Med27 |
T |
A |
2: 29,236,882 (GRCm39) |
V9E |
possibly damaging |
Het |
| Mmp7 |
C |
A |
9: 7,692,219 (GRCm39) |
S31R |
probably benign |
Het |
| Mtcl1 |
T |
G |
17: 66,650,829 (GRCm39) |
E1545D |
probably benign |
Het |
| Muc16 |
A |
G |
9: 18,409,126 (GRCm39) |
Y187H |
probably damaging |
Het |
| Myo3a |
G |
T |
2: 22,404,679 (GRCm39) |
K678N |
possibly damaging |
Het |
| Nsmce1 |
T |
C |
7: 125,085,645 (GRCm39) |
M15V |
probably benign |
Het |
| Nxpe3 |
A |
T |
16: 55,670,078 (GRCm39) |
N342K |
probably damaging |
Het |
| Or7g25 |
A |
G |
9: 19,160,495 (GRCm39) |
S67P |
probably damaging |
Het |
| Or8g2 |
T |
A |
9: 39,821,756 (GRCm39) |
I219N |
probably damaging |
Het |
| Pcdhb9 |
A |
G |
18: 37,534,663 (GRCm39) |
N219S |
probably benign |
Het |
| Pck2 |
T |
A |
14: 55,781,449 (GRCm39) |
V190E |
probably damaging |
Het |
| Pde4b |
G |
A |
4: 102,456,840 (GRCm39) |
A429T |
probably damaging |
Het |
| Phf1 |
T |
C |
17: 27,153,429 (GRCm39) |
V54A |
probably damaging |
Het |
| Pla2r1 |
T |
C |
2: 60,353,127 (GRCm39) |
E278G |
probably damaging |
Het |
| Ptges3 |
G |
T |
10: 127,908,016 (GRCm39) |
R122L |
probably benign |
Het |
| Rnpepl1 |
C |
T |
1: 92,844,881 (GRCm39) |
T391I |
probably damaging |
Het |
| Rps6kb1 |
G |
A |
11: 86,397,633 (GRCm39) |
A404V |
probably benign |
Het |
| Rrm2b |
T |
C |
15: 37,945,391 (GRCm39) |
|
probably null |
Het |
| Sh3rf1 |
C |
T |
8: 61,679,321 (GRCm39) |
P121L |
probably benign |
Het |
| Skint9 |
T |
G |
4: 112,248,148 (GRCm39) |
I199L |
probably benign |
Het |
| Slc9b2 |
G |
T |
3: 135,042,290 (GRCm39) |
R523L |
probably benign |
Het |
| Stox2 |
T |
C |
8: 47,645,865 (GRCm39) |
T532A |
probably damaging |
Het |
| Tbcel |
A |
G |
9: 42,327,248 (GRCm39) |
L385P |
probably damaging |
Het |
| Tle5 |
A |
G |
10: 81,401,474 (GRCm39) |
N181D |
probably benign |
Het |
| Tmem268 |
G |
A |
4: 63,496,149 (GRCm39) |
|
probably null |
Het |
| Tns2 |
C |
T |
15: 102,017,369 (GRCm39) |
R281C |
probably damaging |
Het |
| Top3a |
G |
A |
11: 60,650,182 (GRCm39) |
T122M |
probably damaging |
Het |
| Trav7n-4 |
G |
A |
14: 53,329,088 (GRCm39) |
V33I |
probably benign |
Het |
| Ttn |
T |
G |
2: 76,539,551 (GRCm39) |
E26151D |
possibly damaging |
Het |
| Ttn |
C |
T |
2: 76,687,228 (GRCm39) |
|
probably benign |
Het |
| Tyk2 |
A |
G |
9: 21,035,328 (GRCm39) |
C195R |
possibly damaging |
Het |
| Ugt2b38 |
T |
C |
5: 87,558,078 (GRCm39) |
K528E |
probably damaging |
Het |
| Usp28 |
T |
A |
9: 48,937,125 (GRCm39) |
D483E |
probably benign |
Het |
| Vldlr |
A |
G |
19: 27,220,554 (GRCm39) |
D598G |
probably damaging |
Het |
| Vmn1r51 |
T |
G |
6: 90,106,498 (GRCm39) |
I138S |
probably damaging |
Het |
| Vps13b |
G |
A |
15: 35,869,541 (GRCm39) |
A2682T |
probably damaging |
Het |
| Wac |
T |
A |
18: 7,917,568 (GRCm39) |
V346E |
probably damaging |
Het |
| Zdbf2 |
T |
C |
1: 63,347,579 (GRCm39) |
V1986A |
possibly damaging |
Het |
|
| Other mutations in Slco1c1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00515:Slco1c1
|
APN |
6 |
141,515,208 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL00766:Slco1c1
|
APN |
6 |
141,493,609 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL00825:Slco1c1
|
APN |
6 |
141,487,868 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01380:Slco1c1
|
APN |
6 |
141,485,777 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01583:Slco1c1
|
APN |
6 |
141,485,793 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01877:Slco1c1
|
APN |
6 |
141,500,879 (GRCm39) |
missense |
probably damaging |
0.98 |
|
IGL02601:Slco1c1
|
APN |
6 |
141,490,555 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02852:Slco1c1
|
APN |
6 |
141,493,550 (GRCm39) |
nonsense |
probably null |
|
|
IGL03058:Slco1c1
|
APN |
6 |
141,508,913 (GRCm39) |
missense |
probably benign |
0.44 |
|
IGL03102:Slco1c1
|
APN |
6 |
141,490,553 (GRCm39) |
missense |
possibly damaging |
0.63 |
|
R0101:Slco1c1
|
UTSW |
6 |
141,477,236 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R0326:Slco1c1
|
UTSW |
6 |
141,505,499 (GRCm39) |
missense |
probably benign |
0.45 |
|
R0755:Slco1c1
|
UTSW |
6 |
141,477,258 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1335:Slco1c1
|
UTSW |
6 |
141,487,853 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2011:Slco1c1
|
UTSW |
6 |
141,500,833 (GRCm39) |
missense |
probably benign |
0.00 |
|
R2084:Slco1c1
|
UTSW |
6 |
141,505,578 (GRCm39) |
nonsense |
probably null |
|
|
R2163:Slco1c1
|
UTSW |
6 |
141,505,478 (GRCm39) |
missense |
probably benign |
0.25 |
|
R2190:Slco1c1
|
UTSW |
6 |
141,508,893 (GRCm39) |
missense |
probably benign |
0.02 |
|
R2248:Slco1c1
|
UTSW |
6 |
141,492,415 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2876:Slco1c1
|
UTSW |
6 |
141,505,582 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3004:Slco1c1
|
UTSW |
6 |
141,478,380 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4444:Slco1c1
|
UTSW |
6 |
141,492,417 (GRCm39) |
missense |
possibly damaging |
0.96 |
|
R4529:Slco1c1
|
UTSW |
6 |
141,500,907 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4743:Slco1c1
|
UTSW |
6 |
141,510,242 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R5261:Slco1c1
|
UTSW |
6 |
141,492,502 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5451:Slco1c1
|
UTSW |
6 |
141,505,604 (GRCm39) |
missense |
probably benign |
0.04 |
|
R5558:Slco1c1
|
UTSW |
6 |
141,513,222 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R5813:Slco1c1
|
UTSW |
6 |
141,487,929 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5836:Slco1c1
|
UTSW |
6 |
141,515,040 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6084:Slco1c1
|
UTSW |
6 |
141,492,496 (GRCm39) |
missense |
probably benign |
0.02 |
|
R6434:Slco1c1
|
UTSW |
6 |
141,493,576 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6544:Slco1c1
|
UTSW |
6 |
141,477,170 (GRCm39) |
splice site |
probably null |
|
|
R6766:Slco1c1
|
UTSW |
6 |
141,493,535 (GRCm39) |
missense |
possibly damaging |
0.49 |
|
R6865:Slco1c1
|
UTSW |
6 |
141,485,778 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7050:Slco1c1
|
UTSW |
6 |
141,493,652 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7164:Slco1c1
|
UTSW |
6 |
141,487,855 (GRCm39) |
nonsense |
probably null |
|
|
R7255:Slco1c1
|
UTSW |
6 |
141,515,051 (GRCm39) |
missense |
probably benign |
0.07 |
|
R7362:Slco1c1
|
UTSW |
6 |
141,515,189 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7696:Slco1c1
|
UTSW |
6 |
141,513,336 (GRCm39) |
missense |
probably benign |
0.01 |
|
R8316:Slco1c1
|
UTSW |
6 |
141,492,640 (GRCm39) |
missense |
probably benign |
0.03 |
|
R8799:Slco1c1
|
UTSW |
6 |
141,505,531 (GRCm39) |
missense |
probably benign |
0.22 |
|
R9345:Slco1c1
|
UTSW |
6 |
141,493,553 (GRCm39) |
missense |
probably benign |
0.22 |
|
R9560:Slco1c1
|
UTSW |
6 |
141,515,076 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9561:Slco1c1
|
UTSW |
6 |
141,505,606 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
X0061:Slco1c1
|
UTSW |
6 |
141,478,465 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- TAGGGTCTCGATGGCAGGATTC -3'
(R):5'- TTTGTCAGGAAGGAAGGTCG -3'
Sequencing Primer
(F):5'- CTCGATGGCAGGATTCGTTAATC -3'
(R):5'- TCGAGCTGTAAACGACACC -3'
|
| Posted On |
2017-05-11 |
Incidental Mutation