Mutagenetix > Incidental Mutation

Incidental Mutation 'R7164:Slco1c1'

557797

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

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.092) question?

Stock #

R7164 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

141524368-141570177 bp(+) (GRCm38)

Type of Mutation

nonsense

DNA Base Change (assembly)

T to A at 141542129 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Stop codon at position 192 (Y192*)

Ref Sequence

ENSEMBL: ENSMUSP00000032362 (fasta)

Gene Model

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

AlphaFold

Q9ERB5

Predicted Effect

probably null
Transcript: ENSMUST00000032362
AA Change: Y192*

SMART Domains

Protein: ENSMUSP00000032362
Gene: ENSMUSG00000030235
AA Change: Y192*

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: ENSMUST00000135562
AA Change: Y192*

SMART Domains

Protein: ENSMUSP00000138093
Gene: ENSMUSG00000030235
AA Change: Y192*

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 null
Transcript: ENSMUST00000203140
AA Change: Y74*

SMART Domains

Protein: ENSMUSP00000145058
Gene: ENSMUSG00000030235
AA Change: Y74*

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

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: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.2%

Validation Efficiency

100% (59/59)

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: 60 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
0610037L13Rik	C	A	4: 107,894,890	D155E	not run	Het
4932415D10Rik	G	A	10: 82,286,229	T3649I	probably damaging	Het
Actn2	G	A	13: 12,278,961	H558Y	probably damaging	Het
Akap9	G	C	5: 4,060,364	E3022D	probably damaging	Het
Anapc2	C	T	2: 25,284,999	R710C	probably damaging	Het
Bcl6	G	A	16: 23,966,226	R675*	probably null	Het
Carmil3	A	G	14: 55,501,282	E844G	probably damaging	Het
Cdk17	T	G	10: 93,232,481	S367A	probably benign	Het
Cfap206	T	A	4: 34,719,656	M253L	probably benign	Het
Chd3	T	G	11: 69,362,306	K228Q	probably damaging	Het
Cit	T	A	5: 115,985,787	I1503N	possibly damaging	Het
Csn1s1	A	G	5: 87,674,228	N119S	possibly damaging	Het
Degs1	A	G	1: 182,279,125	S226P	probably damaging	Het
Espl1	T	C	15: 102,313,203	W976R	probably damaging	Het
Fbxl4	C	T	4: 22,386,218	P275L	probably benign	Het
Flnb	A	G	14: 7,915,944		probably null	Het
Gm996	T	A	2: 25,578,567	H444L	possibly damaging	Het
Gnptab	T	A	10: 88,434,070	Y878*	probably null	Het
Gpr89	A	T	3: 96,871,398	M453K	probably benign	Het
Igsf5	A	T	16: 96,372,848	Q26L	possibly damaging	Het
Inpp5e	T	A	2: 26,407,983	D202V	possibly damaging	Het
Itga3	C	T	11: 95,052,479	V931M	possibly damaging	Het
Kcnab3	T	C	11: 69,331,358		probably null	Het
Klk4	T	C	7: 43,881,698	I17T	possibly damaging	Het
Lrrc73	T	C	17: 46,256,243	L206P	probably damaging	Het
Manba	A	T	3: 135,542,388	N346I	probably damaging	Het
Map4k4	T	C	1: 39,973,972	Y76H	possibly damaging	Het
Map4k5	T	C	12: 69,830,436	T312A	probably benign	Het
Masp2	A	G	4: 148,610,115		probably null	Het
Mast1	T	C	8: 84,935,304	D63G	possibly damaging	Het
Mtf2	T	A	5: 108,093,369	S254T	possibly damaging	Het
Myo16	A	T	8: 10,569,585	T1379S	unknown	Het
Myo5a	A	G	9: 75,180,153	E1097G	probably benign	Het
Nat1	T	C	8: 67,491,677	V238A	possibly damaging	Het
Nhlrc2	A	G	19: 56,592,499	D493G	probably damaging	Het
Olfr1165-ps	T	C	2: 88,101,832	K52E	probably damaging	Het
Olfr1331	C	T	4: 118,869,725	P315S	probably benign	Het
Olfr1462	A	T	19: 13,190,906	M80L	probably benign	Het
Olfr291	A	G	7: 84,857,043	I227V	possibly damaging	Het
Olfr50	T	C	2: 36,793,697	S154P	probably benign	Het
Olfr919	A	G	9: 38,698,219	I49T	possibly damaging	Het
Pcsk5	C	T	19: 17,451,985	C1543Y	probably damaging	Het
Pde4d	A	G	13: 109,032,688	D88G	probably benign	Het
Pld5	A	T	1: 176,213,621	M1K	probably null	Het
Prmt6	A	G	3: 110,250,364	M203T	probably benign	Het
Prr14l	A	T	5: 32,829,166	V995D	probably damaging	Het
Psg18	T	C	7: 18,350,937	E199G	possibly damaging	Het
Pth1r	A	G	9: 110,723,747	I439T	possibly damaging	Het
Ptprc	T	A	1: 138,117,862	I87F	probably benign	Het
Slc44a1	T	C	4: 53,528,711	S154P	probably benign	Het
Spag16	A	G	1: 70,724,866	H615R	possibly damaging	Het
Tas2r114	G	A	6: 131,689,765	A100V	possibly damaging	Het
U2af1l4	T	C	7: 30,565,119	S103P	probably benign	Het
Usp10	T	C	8: 119,942,108	S383P	probably damaging	Het
Vmn2r113	A	G	17: 22,948,163	R505G	probably benign	Het
Vmn2r75	A	C	7: 86,165,384	D300E	probably damaging	Het
Zfp318	T	A	17: 46,397,306		probably null	Het
Zfp318	T	C	17: 46,405,939	V999A	probably damaging	Het
Zfp324	A	T	7: 12,968,883	H58L	probably damaging	Het
Zfp707	A	G	15: 75,975,118	E339G	possibly damaging	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
R6084:Slco1c1	UTSW	6	141546770	missense	probably benign	0.02
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
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
R9560:Slco1c1	UTSW	6	141569350	missense	probably benign	0.00
R9561:Slco1c1	UTSW	6	141559880	missense	possibly damaging	0.89
X0061:Slco1c1	UTSW	6	141532739	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- TTCCAGGCTCACTCAAACGC -3'
(R):5'- CTCCCAGTTAACTGAAGCAAGGG -3'

Sequencing Primer
(F):5'- ACGCTTATCAGATTAGCACTGTGG -3'
(R):5'- GGACTGAGTGCTCAAAACTTCCATG -3'

Posted On

2019-06-26