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) question?
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

DomainStartEndE-ValueType
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

DomainStartEndE-ValueType
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

DomainStartEndE-ValueType
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

DomainStartEndE-ValueType
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 question?
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
GeneRefVarChr/LocMutationPredicted EffectZygosity
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
AlleleSourceChrCoordTypePredicted EffectPPH 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