Incidental Mutation 'R2248:Slco1c1'
| ID |
240949 |
| 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 |
040248-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.108)
|
| Stock # |
R2248 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
6 |
| Chromosomal Location |
141470094-141515903 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 141492415 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Asparagine
at position 217
(I217N)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000144889
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000032362]
[ENSMUST00000135562]
[ENSMUST00000203140]
[ENSMUST00000204998]
[ENSMUST00000205214]
|
| AlphaFold |
Q9ERB5 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000032362
AA Change: I266N
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000032362
Gene: ENSMUSG00000030235
AA Change: I266N
| 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 damaging
Transcript: ENSMUST00000111837
AA Change: I267N
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000107468
Gene: ENSMUSG00000030235
AA Change: I267N
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
80 |
102 |
N/A |
INTRINSIC |
|
transmembrane domain
|
112 |
134 |
N/A |
INTRINSIC |
|
low complexity region
|
135 |
149 |
N/A |
INTRINSIC |
|
low complexity region
|
153 |
169 |
N/A |
INTRINSIC |
|
Pfam:MFS_1
|
182 |
465 |
3.8e-18 |
PFAM |
|
KAZAL
|
479 |
519 |
7.8e-3 |
SMART |
|
transmembrane domain
|
559 |
581 |
N/A |
INTRINSIC |
|
transmembrane domain
|
594 |
616 |
N/A |
INTRINSIC |
|
transmembrane domain
|
645 |
667 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000135562
AA Change: I266N
PolyPhen 2
Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000138093
Gene: ENSMUSG00000030235
AA Change: I266N
| 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 |
possibly damaging
Transcript: ENSMUST00000203140
AA Change: I148N
PolyPhen 2
Score 0.956 (Sensitivity: 0.79; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000145058
Gene: ENSMUSG00000030235
AA Change: I148N
| 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 |
noncoding transcript
Transcript: ENSMUST00000203755
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000204998
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000205214
AA Change: I217N
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000144889
Gene: ENSMUSG00000030235
AA Change: I217N
| 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 |
|
| Meta Mutation Damage Score |
0.7806 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 97.2%
- 20x: 94.8%
|
| Validation Efficiency |
100% (67/67) |
| 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: 66 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca2 |
A |
G |
2: 25,323,476 (GRCm39) |
|
probably benign |
Het |
| Afp |
A |
G |
5: 90,649,429 (GRCm39) |
D332G |
probably damaging |
Het |
| AI593442 |
TGAGGAGGAGGAGGAGGA |
TGAGGAGGAGGAGGA |
9: 52,589,114 (GRCm39) |
|
probably benign |
Het |
| Aldh1a2 |
A |
T |
9: 71,123,144 (GRCm39) |
I6F |
possibly damaging |
Het |
| Alg6 |
C |
T |
4: 99,626,444 (GRCm39) |
A84V |
probably damaging |
Het |
| Ank |
T |
A |
15: 27,562,797 (GRCm39) |
|
probably null |
Het |
| Ano5 |
A |
T |
7: 51,243,537 (GRCm39) |
M837L |
probably benign |
Het |
| Arl8b |
A |
G |
6: 108,760,304 (GRCm39) |
Y30C |
probably benign |
Het |
| Bfsp1 |
A |
T |
2: 143,669,572 (GRCm39) |
|
probably null |
Het |
| Cdhr1 |
C |
G |
14: 36,803,334 (GRCm39) |
V581L |
probably benign |
Het |
| Chst8 |
G |
T |
7: 34,447,597 (GRCm39) |
T7K |
probably damaging |
Het |
| Clca3b |
T |
C |
3: 144,530,980 (GRCm39) |
K790R |
probably benign |
Het |
| Clta |
A |
G |
4: 44,012,852 (GRCm39) |
N21D |
probably damaging |
Het |
| Col6a4 |
T |
G |
9: 105,957,158 (GRCm39) |
E222A |
probably benign |
Het |
| Dcc |
G |
T |
18: 71,959,239 (GRCm39) |
Q178K |
probably benign |
Het |
| Dpysl3 |
T |
C |
18: 43,491,358 (GRCm39) |
D140G |
possibly damaging |
Het |
| Dthd1 |
A |
T |
5: 63,007,243 (GRCm39) |
D648V |
probably damaging |
Het |
| Eva1c |
A |
G |
16: 90,628,213 (GRCm39) |
N18S |
probably benign |
Het |
| Flnc |
A |
G |
6: 29,451,400 (GRCm39) |
H1538R |
probably damaging |
Het |
| Foxn3 |
T |
C |
12: 99,162,815 (GRCm39) |
E362G |
probably benign |
Het |
| Frk |
C |
A |
10: 34,484,527 (GRCm39) |
T500K |
probably benign |
Het |
| Glipr1l1 |
A |
G |
10: 111,898,192 (GRCm39) |
E99G |
probably benign |
Het |
| Gphn |
T |
C |
12: 78,501,595 (GRCm39) |
L120P |
probably damaging |
Het |
| Gpr152 |
T |
C |
19: 4,193,805 (GRCm39) |
S449P |
probably benign |
Het |
| Greb1 |
T |
A |
12: 16,730,379 (GRCm39) |
I1655F |
possibly damaging |
Het |
| Hectd1 |
G |
T |
12: 51,853,254 (GRCm39) |
T89N |
probably damaging |
Het |
| Helz2 |
A |
C |
2: 180,875,226 (GRCm39) |
I1756S |
probably benign |
Het |
| Hydin |
G |
T |
8: 111,304,835 (GRCm39) |
R3825L |
probably benign |
Het |
| Ifi207 |
G |
A |
1: 173,564,036 (GRCm39) |
|
probably benign |
Het |
| Itpr3 |
A |
T |
17: 27,334,033 (GRCm39) |
E2035V |
probably damaging |
Het |
| Khnyn |
T |
A |
14: 56,124,195 (GRCm39) |
S150T |
probably benign |
Het |
| Kif21b |
T |
C |
1: 136,100,704 (GRCm39) |
I1595T |
probably damaging |
Het |
| Lgsn |
A |
T |
1: 31,242,607 (GRCm39) |
T230S |
possibly damaging |
Het |
| Limch1 |
G |
T |
5: 67,201,742 (GRCm39) |
G838V |
probably damaging |
Het |
| Lrp2 |
T |
A |
2: 69,341,354 (GRCm39) |
D942V |
probably damaging |
Het |
| Lrrc31 |
T |
A |
3: 30,744,050 (GRCm39) |
T153S |
possibly damaging |
Het |
| Mal2 |
T |
A |
15: 54,451,732 (GRCm39) |
I51N |
probably damaging |
Het |
| Matcap2 |
A |
G |
9: 22,355,410 (GRCm39) |
T482A |
probably benign |
Het |
| Mroh2a |
T |
C |
1: 88,184,476 (GRCm39) |
V1453A |
probably benign |
Het |
| Mycbp2 |
T |
A |
14: 103,407,295 (GRCm39) |
Q385L |
possibly damaging |
Het |
| Nav3 |
T |
A |
10: 109,532,088 (GRCm39) |
D2117V |
probably damaging |
Het |
| Ntn1 |
T |
C |
11: 68,168,398 (GRCm39) |
N353S |
possibly damaging |
Het |
| Oas1c |
T |
C |
5: 120,940,926 (GRCm39) |
E289G |
possibly damaging |
Het |
| Or2m13 |
A |
G |
16: 19,225,944 (GRCm39) |
V274A |
probably damaging |
Het |
| Or4a81 |
C |
A |
2: 89,619,524 (GRCm39) |
M57I |
possibly damaging |
Het |
| Or5w17 |
T |
C |
2: 87,584,287 (GRCm39) |
I17V |
probably null |
Het |
| Plk1 |
A |
G |
7: 121,768,044 (GRCm39) |
|
probably benign |
Het |
| Pms2 |
G |
A |
5: 143,853,324 (GRCm39) |
V230M |
probably damaging |
Het |
| Pole3 |
C |
A |
4: 62,443,250 (GRCm39) |
|
probably benign |
Het |
| Ppp2r5c |
T |
C |
12: 110,452,357 (GRCm39) |
F22S |
probably benign |
Het |
| Prp2rt |
C |
A |
13: 97,235,406 (GRCm39) |
V114F |
possibly damaging |
Het |
| Ptcd3 |
A |
T |
6: 71,871,269 (GRCm39) |
|
probably null |
Het |
| Ptprq |
A |
T |
10: 107,478,931 (GRCm39) |
|
probably null |
Het |
| Rab18 |
T |
A |
18: 6,788,629 (GRCm39) |
C199S |
probably damaging |
Het |
| Rbp3 |
C |
T |
14: 33,677,975 (GRCm39) |
T641M |
probably damaging |
Het |
| Sacs |
A |
G |
14: 61,450,251 (GRCm39) |
N4099S |
probably damaging |
Het |
| Sh3yl1 |
T |
A |
12: 30,992,869 (GRCm39) |
|
probably null |
Het |
| Syne2 |
C |
T |
12: 76,143,678 (GRCm39) |
T6241I |
probably damaging |
Het |
| Tas2r119 |
T |
C |
15: 32,178,297 (GRCm39) |
F288L |
possibly damaging |
Het |
| Tmod2 |
G |
T |
9: 75,499,931 (GRCm39) |
T107N |
probably benign |
Het |
| Trappc6b |
T |
C |
12: 59,097,167 (GRCm39) |
T52A |
probably damaging |
Het |
| Tsen54 |
A |
G |
11: 115,706,232 (GRCm39) |
E122G |
probably damaging |
Het |
| Tspear |
A |
G |
10: 77,709,103 (GRCm39) |
N443S |
probably damaging |
Het |
| Unc80 |
A |
G |
1: 66,662,365 (GRCm39) |
|
probably benign |
Het |
| Virma |
T |
A |
4: 11,518,927 (GRCm39) |
Y725N |
probably damaging |
Het |
| Vwa7 |
G |
A |
17: 35,238,019 (GRCm39) |
D207N |
probably benign |
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 |
|
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 |
|
R3196:Slco1c1
|
UTSW |
6 |
141,477,174 (GRCm39) |
splice site |
probably null |
|
|
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'- GGGAGTGCATGCTCATGGT -3'
(R):5'- GGGGCCATTTGGTAGTGAATAGG -3'
Sequencing Primer
(F):5'- GCTAGTGTAACTATCCAGCTAGC -3'
(R):5'- AGGGTCATCTATGAACTTGGATTTC -3'
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| Posted On |
2014-10-15 |
Incidental Mutation