Incidental Mutation 'R8316:Slco1c1'
ID |
641690 |
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 |
067854-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.097)
|
Stock # |
R8316 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
6 |
Chromosomal Location |
141470094-141515903 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to A
at 141492640 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Methionine to Lysine
at position 341
(M341K)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000032362
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000032362]
[ENSMUST00000135562]
[ENSMUST00000203140]
[ENSMUST00000204998]
[ENSMUST00000205214]
|
AlphaFold |
Q9ERB5 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000032362
AA Change: M341K
PolyPhen 2
Score 0.031 (Sensitivity: 0.95; Specificity: 0.82)
|
SMART Domains |
Protein: ENSMUSP00000032362 Gene: ENSMUSG00000030235 AA Change: M341K
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
AA Change: M341K
PolyPhen 2
Score 0.076 (Sensitivity: 0.93; Specificity: 0.85)
|
SMART Domains |
Protein: ENSMUSP00000138093 Gene: ENSMUSG00000030235 AA Change: M341K
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
AA Change: M223K
PolyPhen 2
Score 0.076 (Sensitivity: 0.93; Specificity: 0.85)
|
SMART Domains |
Protein: ENSMUSP00000145058 Gene: ENSMUSG00000030235 AA Change: M223K
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: ENSMUST00000205214
AA Change: M292K
PolyPhen 2
Score 0.088 (Sensitivity: 0.93; Specificity: 0.85)
|
SMART Domains |
Protein: ENSMUSP00000144889 Gene: ENSMUSG00000030235 AA Change: M292K
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 |
0.0888 |
Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 99.0%
|
Validation Efficiency |
98% (56/57) |
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: 58 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
2610008E11Rik |
A |
C |
10: 78,903,573 (GRCm39) |
C248G |
probably damaging |
Het |
4933427D14Rik |
A |
T |
11: 72,059,612 (GRCm39) |
V693E |
possibly damaging |
Het |
Abcc10 |
G |
T |
17: 46,638,735 (GRCm39) |
L42I |
probably damaging |
Het |
Alb |
A |
G |
5: 90,616,449 (GRCm39) |
E318G |
probably benign |
Het |
Alkal2 |
G |
T |
12: 30,934,850 (GRCm39) |
G23V |
probably damaging |
Het |
Aox4 |
T |
A |
1: 58,293,470 (GRCm39) |
C941S |
possibly damaging |
Het |
Aqp9 |
A |
G |
9: 71,045,495 (GRCm39) |
V38A |
probably benign |
Het |
AW209491 |
A |
G |
13: 14,812,349 (GRCm39) |
T401A |
probably damaging |
Het |
Ccdc57 |
C |
T |
11: 120,776,742 (GRCm39) |
A553T |
probably damaging |
Het |
Celf2 |
C |
T |
2: 6,551,914 (GRCm39) |
D522N |
probably benign |
Het |
Cfap210 |
A |
G |
2: 69,612,287 (GRCm39) |
|
probably null |
Het |
Cmpk2 |
A |
G |
12: 26,524,136 (GRCm39) |
N311S |
probably damaging |
Het |
Dcn |
T |
C |
10: 97,330,939 (GRCm39) |
I91T |
probably damaging |
Het |
Defa30 |
G |
A |
8: 21,624,709 (GRCm39) |
V11I |
probably benign |
Het |
Dnmt3a |
T |
A |
12: 3,946,965 (GRCm39) |
V397E |
probably benign |
Het |
Ehhadh |
G |
A |
16: 21,585,053 (GRCm39) |
A276V |
probably benign |
Het |
Fibcd1 |
T |
C |
2: 31,723,791 (GRCm39) |
|
probably benign |
Het |
Gpr156 |
A |
G |
16: 37,818,336 (GRCm39) |
D344G |
probably null |
Het |
H2-T5 |
A |
G |
17: 36,479,154 (GRCm39) |
S32P |
unknown |
Het |
Invs |
G |
T |
4: 48,426,199 (GRCm39) |
R995S |
possibly damaging |
Het |
Itpr3 |
T |
C |
17: 27,325,199 (GRCm39) |
M1264T |
possibly damaging |
Het |
Lzic |
C |
T |
4: 149,572,527 (GRCm39) |
A39V |
probably benign |
Het |
Marchf6 |
A |
G |
15: 31,482,650 (GRCm39) |
L516P |
possibly damaging |
Het |
Mecom |
C |
T |
3: 30,011,529 (GRCm39) |
E591K |
probably benign |
Het |
Mical3 |
T |
C |
6: 120,911,944 (GRCm39) |
D1916G |
probably damaging |
Het |
Mms22l |
T |
C |
4: 24,578,855 (GRCm39) |
I738T |
probably damaging |
Het |
Mroh2b |
G |
A |
15: 4,980,746 (GRCm39) |
W1438* |
probably null |
Het |
Mroh8 |
G |
T |
2: 157,071,879 (GRCm39) |
T542K |
possibly damaging |
Het |
Msl1 |
A |
T |
11: 98,691,074 (GRCm39) |
K416I |
probably damaging |
Het |
Myh15 |
C |
A |
16: 48,940,381 (GRCm39) |
T777N |
probably damaging |
Het |
Or51a10 |
A |
T |
7: 103,698,829 (GRCm39) |
V244E |
probably damaging |
Het |
Or5p5 |
G |
T |
7: 107,414,030 (GRCm39) |
V82F |
possibly damaging |
Het |
Or5p58 |
A |
G |
7: 107,694,450 (GRCm39) |
F109S |
probably benign |
Het |
Or6c70 |
A |
G |
10: 129,709,891 (GRCm39) |
V245A |
probably damaging |
Het |
Pdzk1ip1 |
T |
A |
4: 114,946,323 (GRCm39) |
V61D |
probably benign |
Het |
Plcxd1 |
A |
T |
5: 110,250,180 (GRCm39) |
M212L |
probably benign |
Het |
Pld1 |
A |
G |
3: 28,078,361 (GRCm39) |
T7A |
probably benign |
Het |
Ppm1n |
T |
C |
7: 19,012,302 (GRCm39) |
D310G |
probably damaging |
Het |
Prpf8 |
A |
G |
11: 75,390,641 (GRCm39) |
N1264S |
possibly damaging |
Het |
Pum2 |
T |
A |
12: 8,763,456 (GRCm39) |
N204K |
possibly damaging |
Het |
Recql5 |
G |
A |
11: 115,784,861 (GRCm39) |
T822I |
possibly damaging |
Het |
Rfc1 |
T |
C |
5: 65,436,077 (GRCm39) |
T656A |
probably benign |
Het |
Sacs |
T |
C |
14: 61,427,068 (GRCm39) |
Y159H |
possibly damaging |
Het |
Septin14 |
A |
G |
5: 129,773,194 (GRCm39) |
S148P |
probably damaging |
Het |
Smok2a |
T |
C |
17: 13,445,160 (GRCm39) |
S246P |
probably damaging |
Het |
Spata9 |
C |
A |
13: 76,125,890 (GRCm39) |
S124R |
possibly damaging |
Het |
Sri |
A |
G |
5: 8,113,317 (GRCm39) |
N103D |
probably damaging |
Het |
Sspo |
G |
A |
6: 48,459,622 (GRCm39) |
C3327Y |
probably damaging |
Het |
Trank1 |
A |
G |
9: 111,178,370 (GRCm39) |
M353V |
probably benign |
Het |
Trim80 |
A |
T |
11: 115,332,006 (GRCm39) |
E66V |
probably damaging |
Het |
Txndc16 |
A |
G |
14: 45,448,641 (GRCm39) |
L73P |
probably damaging |
Het |
Ugt2b34 |
T |
A |
5: 87,039,249 (GRCm39) |
M471L |
probably damaging |
Het |
Ush2a |
G |
T |
1: 188,178,899 (GRCm39) |
V1357L |
probably benign |
Het |
Usp15 |
G |
T |
10: 122,959,848 (GRCm39) |
P855T |
|
Het |
Uspl1 |
C |
T |
5: 149,135,491 (GRCm39) |
T290I |
possibly damaging |
Het |
Zbtb2 |
A |
C |
10: 4,319,084 (GRCm39) |
M314R |
probably benign |
Het |
Zcchc2 |
A |
G |
1: 105,959,844 (GRCm39) |
Y1151C |
probably damaging |
Het |
Zmat3 |
T |
C |
3: 32,395,670 (GRCm39) |
Y279C |
probably 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 |
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 |
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'- GATTCCTAAGTCTCCTTGCAGC -3'
(R):5'- TGCTGTGGACAAAAGCAATC -3'
Sequencing Primer
(F):5'- AAGTCTCCTTGCAGCTGTTC -3'
(R):5'- CCTGACTGAGGAGGTTGAGCTAATC -3'
|
Posted On |
2020-07-28 |