Mutagenetix > Incidental Mutations

Incidental Mutation 'R6084:Slco1c1'

482379

Institutional Source

Beutler Lab

Gene Symbol

Slco1c1

Ensembl Gene

ENSMUSG00000030235

Gene Name

solute carrier organic anion transporter family, member 1c1

Synonyms

Slc21a14, OATP-F

MMRRC Submission

044243-MU

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.069) question?

Stock #

R6084 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

141524368-141570177 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 141546770 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 293 (V293A)

Ref Sequence

ENSEMBL: ENSMUSP00000138093 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000032362] [ENSMUST00000135562] [ENSMUST00000203140] [ENSMUST00000204998] [ENSMUST00000205214]

AlphaFold

Q9ERB5

Predicted Effect

probably benign
Transcript: ENSMUST00000032362
AA Change: V293A

PolyPhen 2 Score 0.014 (Sensitivity: 0.96; Specificity: 0.79)

SMART Domains

Protein: ENSMUSP00000032362
Gene: ENSMUSG00000030235
AA Change: V293A

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: V293A

PolyPhen 2 Score 0.016 (Sensitivity: 0.95; Specificity: 0.79)

SMART Domains

Protein: ENSMUSP00000138093
Gene: ENSMUSG00000030235
AA Change: V293A

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: V175A

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)

SMART Domains

Protein: ENSMUSP00000145058
Gene: ENSMUSG00000030235
AA Change: V175A

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 benign
Transcript: ENSMUST00000205214
AA Change: V244A

PolyPhen 2 Score 0.014 (Sensitivity: 0.96; Specificity: 0.79)

SMART Domains

Protein: ENSMUSP00000144889
Gene: ENSMUSG00000030235
AA Change: V244A

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: 99.9%
3x: 99.6%
10x: 98.2%
20x: 94.8%

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: 84 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Arap2	T	C	5: 62,670,954	D958G	possibly damaging	Het
Bag4	T	C	8: 25,771,231	T161A	probably benign	Het
Bora	A	T	14: 99,062,294	Q234L	possibly damaging	Het
Cacna2d2	T	C	9: 107,497,521		probably null	Het
Cass4	G	T	2: 172,426,912	A307S	probably benign	Het
Cbln4	A	T	2: 172,042,096	V68E	probably damaging	Het
Cc2d2a	T	A	5: 43,668,673	N2K	probably benign	Het
Ccnf	T	A	17: 24,231,837	D389V	probably damaging	Het
Cdipt	T	C	7: 126,979,601	S161P	probably benign	Het
Ceacam19	T	C	7: 19,882,887	I161V	probably benign	Het
Cfap65	A	G	1: 74,920,405	I862T	probably damaging	Het
Cfi	T	A	3: 129,858,370	L230Q	probably benign	Het
Chac2	G	A	11: 30,986,159	R30W	probably damaging	Het
Cmc2	G	A	8: 116,889,827		probably benign	Het
Col1a2	A	T	6: 4,505,840	M1L	probably benign	Het
Cox8a	C	A	19: 7,217,418	R32L	possibly damaging	Het
Cubn	T	A	2: 13,430,897	N1083Y	probably damaging	Het
D430042O09Rik	G	A	7: 125,814,865	G394R	probably benign	Het
D630003M21Rik	T	C	2: 158,217,584	D132G	probably damaging	Het
Dedd2	G	A	7: 25,211,290	P154S	probably benign	Het
Dnaaf3	T	C	7: 4,524,213	D358G	probably benign	Het
Dysf	T	A	6: 84,019,604	F29L	probably damaging	Het
Dysf	T	C	6: 84,112,119	L888P	probably damaging	Het
Ebf4	A	G	2: 130,309,723	D277G	probably damaging	Het
Ecm2	T	A	13: 49,515,094	L91*	probably null	Het
Foxs1	T	C	2: 152,932,842	D97G	possibly damaging	Het
Frs2	A	C	10: 117,076,809		probably null	Het
Gm6768	A	G	12: 119,261,651		noncoding transcript	Het
Grp	A	T	18: 65,879,937	D58V	probably damaging	Het
Hif1a	T	G	12: 73,941,842	F537C	probably damaging	Het
Icam4	G	A	9: 21,029,539	S29N	probably benign	Het
Itfg1	T	C	8: 85,726,170	E523G	probably benign	Het
Jph2	T	C	2: 163,375,680	K359E	probably damaging	Het
Kcnq2	A	T	2: 181,087,656	V490E	possibly damaging	Het
Klhl18	C	T	9: 110,428,727	M548I	possibly damaging	Het
Lpin3	A	G	2: 160,895,801	Y197C	probably benign	Het
Lrp1	T	C	10: 127,560,553	N2381D	probably benign	Het
Man1a	A	T	10: 53,919,211	W649R	probably damaging	Het
Map4	T	C	9: 110,064,292	L542P	probably damaging	Het
Mboat2	A	T	12: 24,878,285	H52L	probably damaging	Het
Mok	C	G	12: 110,814,946	S91T	probably benign	Het
Mtmr11	G	T	3: 96,168,084	R360L	probably damaging	Het
Myt1l	G	A	12: 29,832,332	G509R	unknown	Het
Olfr1288	A	T	2: 111,479,389	N202Y	probably damaging	Het
Olfr341	A	G	2: 36,479,512	V206A	probably benign	Het
Olfr544	T	C	7: 102,484,389	T244A	probably damaging	Het
Olfr67	C	T	7: 103,787,955	M107I	probably benign	Het
Olfr836	A	G	9: 19,121,327	D121G	probably damaging	Het
Olfr867	A	T	9: 20,054,883	H75Q	possibly damaging	Het
Padi3	G	T	4: 140,795,843	T292N	probably damaging	Het
Pard6g	A	C	18: 80,117,205	T178P	possibly damaging	Het
Pkd1l2	A	T	8: 117,013,987	Y2124N	probably damaging	Het
Plxdc1	G	A	11: 97,928,463	T398I	probably damaging	Het
Prickle2	A	T	6: 92,416,848	C225*	probably null	Het
Prmt2	G	A	10: 76,210,444	T317I	probably benign	Het
Psg22	T	G	7: 18,719,780	N172K	probably benign	Het
Ptpn9	C	T	9: 57,033,163	R196*	probably null	Het
Rap1b	C	T	10: 117,824,611	V14I	probably damaging	Het
Rapgef4	T	A	2: 72,196,278		probably null	Het
Rlf	A	T	4: 121,149,215	M856K	possibly damaging	Het
Rnf149	A	G	1: 39,577,174	L34P	probably benign	Het
Rock1	T	C	18: 10,101,007	E636G	probably benign	Het
Rsad2	A	T	12: 26,454,123	Y136N	probably damaging	Het
Ryr3	T	C	2: 112,908,493	H563R	probably damaging	Het
Slc18b1	A	G	10: 23,804,212	M102V	probably benign	Het
Slc34a2	T	A	5: 53,067,647	C377S	possibly damaging	Het
Spidr	A	T	16: 16,140,024	S80T	possibly damaging	Het
Syne1	C	T	10: 5,348,994	E1031K	probably damaging	Het
Synj2	G	A	17: 6,017,614	V121I	probably damaging	Het
Synj2	A	T	17: 6,038,098	T1430S	probably damaging	Het
Tecpr2	G	T	12: 110,929,109	K343N	probably damaging	Het
Tmem132d	T	A	5: 127,784,100	I986F	probably benign	Het
Trib1	G	A	15: 59,654,475	R298H	probably damaging	Het
Ttll10	T	A	4: 156,045,357	D283V	probably benign	Het
Ttn	T	A	2: 76,814,779	K673*	probably null	Het
Ubqlnl	T	A	7: 104,148,698	M531L	probably benign	Het
Vmn2r120	A	T	17: 57,525,721	W153R	probably benign	Het
Vmn2r2	A	C	3: 64,117,046	S705A	probably benign	Het
Vmn2r32	T	A	7: 7,464,210	D773V	probably benign	Het
Vmn2r54	T	A	7: 12,632,278	Q243L	probably damaging	Het
Wdr24	C	A	17: 25,824,530	R109S	probably damaging	Het
Zfp113	T	C	5: 138,145,668	M107V	probably benign	Het
Zfp426	G	T	9: 20,470,627	Q341K	possibly damaging	Het
Zfp616	A	T	11: 74,083,846	K314*	probably null	Het

Other mutations in Slco1c1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00515:Slco1c1	APN	6	141569482	missense	probably benign	0.00
IGL00766:Slco1c1	APN	6	141547883	missense	probably damaging	1.00
IGL00825:Slco1c1	APN	6	141542142	missense	probably damaging	1.00
IGL01380:Slco1c1	APN	6	141540051	missense	probably damaging	1.00
IGL01583:Slco1c1	APN	6	141540067	missense	probably damaging	1.00
IGL01877:Slco1c1	APN	6	141555153	missense	probably damaging	0.98
IGL02601:Slco1c1	APN	6	141544829	missense	probably damaging	1.00
IGL02852:Slco1c1	APN	6	141547824	nonsense	probably null
IGL03058:Slco1c1	APN	6	141563187	missense	probably benign	0.44
IGL03102:Slco1c1	APN	6	141544827	missense	possibly damaging	0.63
R0101:Slco1c1	UTSW	6	141531510	missense	probably damaging	0.99
R0326:Slco1c1	UTSW	6	141559773	missense	probably benign	0.45
R0755:Slco1c1	UTSW	6	141531532	missense	probably damaging	0.99
R1335:Slco1c1	UTSW	6	141542127	missense	probably damaging	1.00
R2011:Slco1c1	UTSW	6	141555107	missense	probably benign	0.00
R2084:Slco1c1	UTSW	6	141559852	nonsense	probably null
R2163:Slco1c1	UTSW	6	141559752	missense	probably benign	0.25
R2190:Slco1c1	UTSW	6	141563167	missense	probably benign	0.02
R2248:Slco1c1	UTSW	6	141546689	missense	probably damaging	1.00
R2876:Slco1c1	UTSW	6	141559856	missense	probably damaging	1.00
R3004:Slco1c1	UTSW	6	141532654	missense	probably damaging	1.00
R3196:Slco1c1	UTSW	6	141531448	splice site	probably null
R4444:Slco1c1	UTSW	6	141546691	missense	possibly damaging	0.96
R4529:Slco1c1	UTSW	6	141555181	missense	probably damaging	1.00
R4743:Slco1c1	UTSW	6	141564516	missense	probably damaging	0.98
R5261:Slco1c1	UTSW	6	141546776	missense	probably damaging	1.00
R5451:Slco1c1	UTSW	6	141559878	missense	probably benign	0.04
R5558:Slco1c1	UTSW	6	141567496	missense	probably damaging	0.97
R5813:Slco1c1	UTSW	6	141542203	missense	probably damaging	1.00
R5836:Slco1c1	UTSW	6	141569314	missense	probably damaging	1.00
R6434:Slco1c1	UTSW	6	141547850	missense	probably damaging	1.00
R6544:Slco1c1	UTSW	6	141531444	splice site	probably null
R6766:Slco1c1	UTSW	6	141547809	missense	possibly damaging	0.49
R6865:Slco1c1	UTSW	6	141540052	missense	probably damaging	1.00
R7050:Slco1c1	UTSW	6	141547926	missense	probably damaging	1.00
R7164:Slco1c1	UTSW	6	141542129	nonsense	probably null
R7255:Slco1c1	UTSW	6	141569325	missense	probably benign	0.07
R7362:Slco1c1	UTSW	6	141569463	missense	probably benign	0.00
R7696:Slco1c1	UTSW	6	141567610	missense	probably benign	0.01
R8316:Slco1c1	UTSW	6	141546914	missense	probably benign	0.03
R8799:Slco1c1	UTSW	6	141559805	missense	probably benign	0.22
R9345:Slco1c1	UTSW	6	141547827	missense	probably benign	0.22
X0061:Slco1c1	UTSW	6	141532739	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- GATGTGGTAGAATTGTTGCTAGAAT -3'
(R):5'- TGGCCCATACACCTCCTCTAG -3'

Posted On

2017-07-14