Incidental Mutation 'R0086:Slc22a14'
ID 208402
Institutional Source Beutler Lab
Gene Symbol Slc22a14
Ensembl Gene ENSMUSG00000070280
Gene Name solute carrier family 22 (organic cation transporter), member 14
Synonyms LOC382113
MMRRC Submission 038373-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.056) question?
Stock # R0086 (G1)
Quality Score 138
Status Validated
Chromosome 9
Chromosomal Location 118998521-119019496 bp(-) (GRCm39)
Type of Mutation critical splice donor site
DNA Base Change (assembly) C to T at 119051804 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000134667 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000170400] [ENSMUST00000173185]
AlphaFold Q497L9
Predicted Effect probably benign
Transcript: ENSMUST00000170400
SMART Domains Protein: ENSMUSP00000131982
Gene: ENSMUSG00000070280

DomainStartEndE-ValueType
transmembrane domain 68 90 N/A INTRINSIC
Pfam:Sugar_tr 150 555 1.2e-28 PFAM
Pfam:MFS_1 178 514 7.6e-28 PFAM
Predicted Effect
SMART Domains Protein: ENSMUSP00000134179
Gene: ENSMUSG00000092212

DomainStartEndE-ValueType
Pfam:Sugar_tr 1 302 6e-27 PFAM
Pfam:MFS_1 141 318 3.7e-13 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000173185
SMART Domains Protein: ENSMUSP00000134667
Gene: ENSMUSG00000092212

DomainStartEndE-ValueType
transmembrane domain 22 44 N/A INTRINSIC
Pfam:MFS_1 141 349 3.4e-12 PFAM
Pfam:Sugar_tr 162 333 7e-9 PFAM
Meta Mutation Damage Score 0.0765 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.0%
  • 10x: 94.6%
  • 20x: 86.6%
Validation Efficiency 96% (91/95)
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-cation transporter family. It is located in a gene cluster with another member of the family, organic cation transporter like 3. The encoded protein is a transmembrane protein which is thought to transport small molecules and since this protein is conserved among several species, it is suggested to have a fundamental role in mammalian systems. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Feb 2016]
Allele List at MGI
Other mutations in this stock
Total: 59 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930407I10Rik T A 15: 81,946,802 (GRCm39) V233D probably benign Het
Abcg8 T C 17: 85,000,199 (GRCm39) V252A probably damaging Het
Adam39 C T 8: 41,279,397 (GRCm39) T596I possibly damaging Het
Agap2 C A 10: 126,923,751 (GRCm39) probably null Het
Ap4b1 T G 3: 103,722,176 (GRCm39) V50G probably damaging Het
Atp13a1 T A 8: 70,250,424 (GRCm39) I381N possibly damaging Het
Bcl2 G A 1: 106,640,292 (GRCm39) R107C probably damaging Het
Birc6 T C 17: 74,900,161 (GRCm39) V1113A possibly damaging Het
C1galt1 T A 6: 7,867,051 (GRCm39) probably benign Het
Capza2 A G 6: 17,660,773 (GRCm39) K158E probably damaging Het
Cenpe C T 3: 134,970,185 (GRCm39) probably benign Het
Cercam T C 2: 29,761,076 (GRCm39) L42P probably damaging Het
Cfap54 T C 10: 92,864,456 (GRCm39) E807G possibly damaging Het
Cog6 A G 3: 52,900,991 (GRCm39) V157A probably damaging Het
Cts6 A T 13: 61,344,271 (GRCm39) probably benign Het
Cyp2c39 A T 19: 39,499,357 (GRCm39) I15F unknown Het
Dock7 A T 4: 98,833,381 (GRCm39) V1970D probably damaging Het
Exph5 A G 9: 53,249,230 (GRCm39) D73G possibly damaging Het
Gjc2 A T 11: 59,067,672 (GRCm39) M270K probably benign Het
Gns G A 10: 121,227,378 (GRCm39) D463N probably damaging Het
Hoxd8 G T 2: 74,536,276 (GRCm39) G129W probably damaging Het
Ina A G 19: 47,012,030 (GRCm39) T483A possibly damaging Het
Lmod3 T A 6: 97,224,306 (GRCm39) Q505L probably damaging Het
Map3k13 A G 16: 21,732,975 (GRCm39) N526D probably damaging Het
Map3k2 A T 18: 32,351,521 (GRCm39) I435F probably damaging Het
Mfsd6l A G 11: 68,447,391 (GRCm39) T81A probably benign Het
Micall1 T C 15: 79,009,689 (GRCm39) probably benign Het
Mkrn2 G T 6: 115,590,296 (GRCm39) M217I possibly damaging Het
Mtrex G T 13: 113,063,862 (GRCm39) F10L probably benign Het
Myh11 C A 16: 14,041,883 (GRCm39) Q720H probably damaging Het
Ncapg A G 5: 45,834,086 (GRCm39) probably null Het
Nlrp9a G A 7: 26,257,972 (GRCm39) C530Y probably damaging Het
Numb T C 12: 83,842,704 (GRCm39) T442A probably damaging Het
Oip5 C T 2: 119,448,410 (GRCm39) probably benign Het
Or1j14 A T 2: 36,417,462 (GRCm39) I13F possibly damaging Het
Or4c119 C T 2: 88,986,820 (GRCm39) R233H probably benign Het
Or51k1 A G 7: 103,661,261 (GRCm39) I216T probably benign Het
Or8g22 T C 9: 38,958,191 (GRCm39) T175A probably benign Het
Pcnx1 T C 12: 82,038,832 (GRCm39) probably benign Het
Pkhd1l1 T A 15: 44,419,404 (GRCm39) N2956K possibly damaging Het
Plcl1 T A 1: 55,754,742 (GRCm39) W1030R probably damaging Het
Polr2i G A 7: 29,932,511 (GRCm39) V73M probably damaging Het
Prr14l T A 5: 32,988,903 (GRCm39) probably benign Het
Pxdn G T 12: 30,052,418 (GRCm39) R865L possibly damaging Het
Scnn1a T C 6: 125,319,550 (GRCm39) probably benign Het
Shkbp1 G T 7: 27,051,451 (GRCm39) H203N probably benign Het
Snap29 C A 16: 17,246,100 (GRCm39) T240K probably damaging Het
Sp2 C A 11: 96,848,253 (GRCm39) G457C probably damaging Het
Ssr2 C T 3: 88,484,187 (GRCm39) probably benign Het
Synpo2 A T 3: 122,910,753 (GRCm39) C297* probably null Het
Tpm3 T A 3: 89,997,399 (GRCm39) probably benign Het
Trmt6 CTG C 2: 132,650,937 (GRCm39) probably benign Het
Trp63 T C 16: 25,689,837 (GRCm39) Y431H probably damaging Het
Tuba3b T A 6: 145,566,886 (GRCm39) C376S probably damaging Het
Ubxn4 G A 1: 128,190,641 (GRCm39) E256K probably benign Het
Ulk1 G A 5: 110,935,573 (GRCm39) probably benign Het
Usp24 T C 4: 106,249,557 (GRCm39) S1425P probably damaging Het
Xdh T C 17: 74,191,433 (GRCm39) I1335V probably benign Het
Zmynd15 T C 11: 70,355,058 (GRCm39) Y352H probably damaging Het
Other mutations in Slc22a14
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00338:Slc22a14 APN 9 119,007,579 (GRCm39) missense possibly damaging 0.58
R0505:Slc22a14 UTSW 9 119,001,100 (GRCm39) splice site probably benign
R0593:Slc22a14 UTSW 9 118,998,919 (GRCm39) missense probably benign 0.15
R0597:Slc22a14 UTSW 9 119,001,190 (GRCm39) missense probably damaging 0.99
R0674:Slc22a14 UTSW 9 119,007,608 (GRCm39) missense probably damaging 1.00
R1290:Slc22a14 UTSW 9 119,007,518 (GRCm39) missense probably damaging 1.00
R1459:Slc22a14 UTSW 9 119,052,827 (GRCm39) missense possibly damaging 0.70
R1706:Slc22a14 UTSW 9 119,010,050 (GRCm39) missense probably benign 0.06
R3980:Slc22a14 UTSW 9 119,007,552 (GRCm39) missense probably benign 0.02
R4166:Slc22a14 UTSW 9 119,008,934 (GRCm39) missense possibly damaging 0.53
R4166:Slc22a14 UTSW 9 119,007,498 (GRCm39) missense probably benign 0.00
R4574:Slc22a14 UTSW 9 119,008,561 (GRCm39) missense probably damaging 0.99
R4959:Slc22a14 UTSW 9 119,003,101 (GRCm39) small deletion probably benign
R4973:Slc22a14 UTSW 9 119,003,101 (GRCm39) small deletion probably benign
R5273:Slc22a14 UTSW 9 118,999,704 (GRCm39) missense probably benign 0.08
R5330:Slc22a14 UTSW 9 119,059,662 (GRCm39) missense probably damaging 1.00
R5331:Slc22a14 UTSW 9 119,059,662 (GRCm39) missense probably damaging 1.00
R5543:Slc22a14 UTSW 9 119,002,674 (GRCm39) missense probably benign 0.01
R5801:Slc22a14 UTSW 9 119,001,149 (GRCm39) missense probably benign 0.01
R6521:Slc22a14 UTSW 9 119,049,835 (GRCm39) splice site probably null
R6622:Slc22a14 UTSW 9 118,999,643 (GRCm39) missense possibly damaging 0.81
R6948:Slc22a14 UTSW 9 119,060,482 (GRCm39) missense probably damaging 1.00
R7027:Slc22a14 UTSW 9 119,060,281 (GRCm39) splice site probably null
R7731:Slc22a14 UTSW 9 118,999,677 (GRCm39) missense possibly damaging 0.95
R7985:Slc22a14 UTSW 9 118,999,704 (GRCm39) missense probably benign 0.01
R8412:Slc22a14 UTSW 9 119,009,922 (GRCm39) missense probably benign 0.00
R8508:Slc22a14 UTSW 9 119,009,651 (GRCm39) missense probably damaging 1.00
R8674:Slc22a14 UTSW 9 119,007,467 (GRCm39) missense probably null 1.00
R8773:Slc22a14 UTSW 9 119,059,290 (GRCm39) intron probably benign
R8950:Slc22a14 UTSW 9 118,998,778 (GRCm39) missense possibly damaging 0.71
R9484:Slc22a14 UTSW 9 119,009,615 (GRCm39) missense probably damaging 1.00
R9633:Slc22a14 UTSW 9 119,008,528 (GRCm39) missense probably benign 0.00
Predicted Primers PCR Primer
(F):5'- GCCAGCAGCTCTTACCTGATGATG -3'
(R):5'- GGCTCTAACTGTGACGGTTTCTCC -3'

Sequencing Primer
(F):5'- ACCACCGTGGGAAGATCTG -3'
(R):5'- CTGGTCTGAACGCATTAAGC -3'
Posted On 2014-06-25