Mutagenetix > Incidental Mutation

Incidental Mutation 'R0326:Slco1c1'

25830

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

038536-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.108) question?

Stock #

R0326 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

141470094-141515903 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 141505499 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Proline at position 475 (L475P)

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: L475P

PolyPhen 2 Score 0.446 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000032362
Gene: ENSMUSG00000030235
AA Change: L475P

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: ENSMUST00000111837
AA Change: L476P

PolyPhen 2 Score 0.282 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000107468
Gene: ENSMUSG00000030235
AA Change: L476P

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 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
AA Change: L357P

PolyPhen 2 Score 0.282 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000145058
Gene: ENSMUSG00000030235
AA Change: L357P

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: L426P

PolyPhen 2 Score 0.063 (Sensitivity: 0.94; Specificity: 0.84)

SMART Domains

Protein: ENSMUSP00000144889
Gene: ENSMUSG00000030235
AA Change: L426P

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: 99.0%
3x: 98.0%
10x: 95.8%
20x: 91.8%

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: 99 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
AA986860	C	T	1: 130,670,635 (GRCm39)	P286S	possibly damaging	Het
Aagab	T	A	9: 63,526,444 (GRCm39)	S156T	probably damaging	Het
Abca14	T	G	7: 119,823,642 (GRCm39)	Y390D	probably damaging	Het
Abcc2	T	A	19: 43,814,386 (GRCm39)	I1122N	possibly damaging	Het
Adamts16	T	C	13: 70,927,730 (GRCm39)	E503G	possibly damaging	Het
Adamts9	A	T	6: 92,835,038 (GRCm39)	C697*	probably null	Het
Adgrv1	T	C	13: 81,623,112 (GRCm39)	D3837G	possibly damaging	Het
Ahcyl	T	A	16: 45,974,246 (GRCm39)	D377V	probably benign	Het
Aire	T	A	10: 77,878,433 (GRCm39)	R128S	probably damaging	Het
Alkbh2	A	C	5: 114,262,011 (GRCm39)	*240E	probably null	Het
Als2	T	C	1: 59,219,742 (GRCm39)	Y1191C	probably damaging	Het
Anapc5	A	T	5: 122,952,667 (GRCm39)	V186E	probably benign	Het
Apob	C	T	12: 8,040,307 (GRCm39)	A548V	probably damaging	Het
B3galt4	A	T	17: 34,169,722 (GRCm39)	V172E	probably damaging	Het
Bbs7	A	C	3: 36,646,525 (GRCm39)	C432G	possibly damaging	Het
Cacna2d3	T	A	14: 28,767,601 (GRCm39)	E758V	probably damaging	Het
Cactin	T	G	10: 81,158,496 (GRCm39)	L154R	probably benign	Het
Ccdc88a	A	C	11: 29,411,021 (GRCm39)	R502S	probably benign	Het
Ccnf	A	T	17: 24,450,784 (GRCm39)	I398N	possibly damaging	Het
Chd1	A	T	17: 15,988,828 (GRCm39)	D1527V	probably damaging	Het
Chd1	A	T	17: 15,988,830 (GRCm39)	M1528L	probably benign	Het
Chrac1	G	A	15: 72,964,675 (GRCm39)		probably null	Het
Cln3	T	G	7: 126,182,217 (GRCm39)	M1L	probably damaging	Het
Cnot6	T	C	11: 49,568,263 (GRCm39)	Y442C	probably damaging	Het
Col19a1	A	T	1: 24,324,132 (GRCm39)		probably null	Het
Col1a2	T	C	6: 4,537,838 (GRCm39)	F1116L	unknown	Het
Col1a2	G	A	6: 4,518,822 (GRCm39)		probably benign	Het
Cops4	T	G	5: 100,676,408 (GRCm39)	V53G	probably damaging	Het
Crnkl1	A	G	2: 145,761,875 (GRCm39)	S561P	probably benign	Het
Ctnnb1	C	A	9: 120,780,778 (GRCm39)	Q99K	probably benign	Het
Cxcr5	T	C	9: 44,424,578 (GRCm39)	S360G	probably benign	Het
Dab2	G	A	15: 6,447,797 (GRCm39)	V60M	probably damaging	Het
Ddx3y	A	T	Y: 1,263,321 (GRCm39)	Y648*	probably null	Het
Dennd2a	T	A	6: 39,474,044 (GRCm39)	D430V	probably damaging	Het
Dsp	G	T	13: 38,376,846 (GRCm39)	E1544*	probably null	Het
Efcab7	A	T	4: 99,719,631 (GRCm39)	M38L	possibly damaging	Het
Fto	A	G	8: 92,136,155 (GRCm39)	N141S	probably damaging	Het
Gabrp	A	G	11: 33,504,362 (GRCm39)	F318L	probably damaging	Het
Gmeb1	A	C	4: 131,969,663 (GRCm39)	C103W	probably damaging	Het
Heatr9	T	C	11: 83,405,365 (GRCm39)	D365G	probably damaging	Het
Hif3a	G	A	7: 16,778,325 (GRCm39)	R436W	probably benign	Het
Hint2	A	G	4: 43,654,378 (GRCm39)	V145A	probably damaging	Het
Hmcn2	T	A	2: 31,313,237 (GRCm39)	L3482*	probably null	Het
Hsd3b1	A	T	3: 98,760,590 (GRCm39)	Y134N	probably damaging	Het
Impg2	T	A	16: 56,080,848 (GRCm39)	V775E	probably damaging	Het
Ipo5	A	G	14: 121,159,635 (GRCm39)	I154M	probably benign	Het
Itgad	T	A	7: 127,797,550 (GRCm39)	F893Y	probably benign	Het
Itprid1	A	T	6: 55,875,228 (GRCm39)	M393L	possibly damaging	Het
Kdm4a	T	C	4: 118,018,903 (GRCm39)	R438G	probably benign	Het
Klk1b11	T	A	7: 43,425,943 (GRCm39)	M1K	probably null	Het
Lama5	A	T	2: 179,824,219 (GRCm39)	V2602D	possibly damaging	Het
Lrch3	T	C	16: 32,799,870 (GRCm39)	S35P	probably damaging	Het
Mfn2	A	G	4: 147,967,745 (GRCm39)	L441P	probably damaging	Het
Mgat4c	A	T	10: 102,224,565 (GRCm39)	I260F	probably damaging	Het
Mon1b	T	A	8: 114,364,375 (GRCm39)	S51T	probably benign	Het
Myh11	T	C	16: 14,036,744 (GRCm39)	D993G	probably benign	Het
Myo1a	A	G	10: 127,552,166 (GRCm39)	N762D	probably benign	Het
Nacc2	A	T	2: 25,950,345 (GRCm39)	Y464N	probably damaging	Het
Nckap1	A	G	2: 80,383,714 (GRCm39)	I150T	probably benign	Het
Ndufv2	G	T	17: 66,387,816 (GRCm39)	P119T	probably damaging	Het
Noc4l	G	A	5: 110,800,241 (GRCm39)	R95*	probably null	Het
Ntng1	A	T	3: 110,042,819 (GRCm39)	Y2*	probably null	Het
Oog4	T	C	4: 143,165,773 (GRCm39)	N53D	probably benign	Het
Or10ak11	A	T	4: 118,687,022 (GRCm39)	V205D	possibly damaging	Het
Or4d11	C	T	19: 12,013,525 (GRCm39)	V194I	probably benign	Het
Or6c6c	A	G	10: 129,541,638 (GRCm39)	E297G	possibly damaging	Het
Or9i1b	C	T	19: 13,896,873 (GRCm39)	T163I	probably benign	Het
Phkg2	T	G	7: 127,173,075 (GRCm39)	L11R	probably damaging	Het
Pogz	A	G	3: 94,777,424 (GRCm39)	D368G	probably damaging	Het
Prex2	T	A	1: 11,355,289 (GRCm39)	L1530Q	probably damaging	Het
Prmt1	C	T	7: 44,628,878 (GRCm39)	E144K	probably damaging	Het
Prss8	T	A	7: 127,526,348 (GRCm39)	I121F	probably benign	Het
Psmd13	T	C	7: 140,477,624 (GRCm39)	L314P	probably damaging	Het
Ptch2	G	A	4: 116,966,081 (GRCm39)	G467D	probably damaging	Het
Rbm20	C	A	19: 53,852,596 (GRCm39)	P1192Q	probably damaging	Het
Rpl19	T	A	11: 97,919,200 (GRCm39)	D45E	probably benign	Het
Rsph10b	C	T	5: 143,903,946 (GRCm39)	A219V	probably damaging	Het
Rtraf	C	T	14: 19,864,600 (GRCm39)		probably null	Het
Scaf1	T	A	7: 44,658,175 (GRCm39)	T235S	probably damaging	Het
Shank1	T	A	7: 43,968,594 (GRCm39)	C296S	unknown	Het
Slc39a7	A	T	17: 34,247,924 (GRCm39)	V426D	probably damaging	Het
Slc41a2	A	T	10: 83,119,610 (GRCm39)	V384D	probably damaging	Het
Slco6d1	A	C	1: 98,418,359 (GRCm39)	K515T	probably benign	Het
Sos2	T	C	12: 69,682,459 (GRCm39)	E253G	probably damaging	Het
Sp6	G	T	11: 96,912,361 (GRCm39)	D25Y	possibly damaging	Het
Syt11	A	C	3: 88,669,855 (GRCm39)	D12E	possibly damaging	Het
Taf2	A	G	15: 54,910,856 (GRCm39)	L606P	probably damaging	Het
Tbc1d5	A	G	17: 51,273,764 (GRCm39)	Y116H	probably damaging	Het
Tnfrsf8	A	G	4: 145,015,029 (GRCm39)	I243T	possibly damaging	Het
Tnxb	A	G	17: 34,917,153 (GRCm39)	S2183G	probably benign	Het
Trim66	T	C	7: 109,059,379 (GRCm39)	Y853C	probably benign	Het
Ttn	T	A	2: 76,567,839 (GRCm39)	T27685S	probably damaging	Het
Ttn	T	C	2: 76,573,466 (GRCm39)	E25809G	probably damaging	Het
Uvssa	G	A	5: 33,566,191 (GRCm39)	G445S	probably benign	Het
Zfp326	T	C	5: 106,058,141 (GRCm39)	S427P	probably damaging	Het
Zfp592	A	G	7: 80,674,637 (GRCm39)	T534A	possibly damaging	Het
Zfp672	A	G	11: 58,207,173 (GRCm39)	S383P	possibly damaging	Het
Zfp799	A	G	17: 33,039,700 (GRCm39)	S188P	possibly damaging	Het
Zyg11b	A	C	4: 108,129,450 (GRCm39)	V54G	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
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
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'- TGTCCAAAGACAGCAGGCACAATG -3'
(R):5'- TAGGGTCAGAACGAGAGCTTCCAC -3'

Sequencing Primer
(F):5'- GGCACAATGTCATAAATTGCCC -3'
(R):5'- GGGACTACTGAGTAGCCATTTAAC -3'

Posted On

2013-04-16