Incidental Mutation 'R9604:Slc14a1'
ID 723850
Institutional Source Beutler Lab
Gene Symbol Slc14a1
Ensembl Gene ENSMUSG00000059336
Gene Name solute carrier family 14 (urea transporter), member 1
Synonyms 2610507K20Rik, UT-B, 3021401A05Rik
MMRRC Submission
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R9604 (G1)
Quality Score 225.009
Status Not validated
Chromosome 18
Chromosomal Location 78143306-78185334 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to A at 78152807 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Alanine to Serine at position 367 (A367S)
Ref Sequence ENSEMBL: ENSMUSP00000125114 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000091813] [ENSMUST00000160292] [ENSMUST00000160639]
AlphaFold Q8VHL0
Predicted Effect probably damaging
Transcript: ENSMUST00000091813
AA Change: A311S

PolyPhen 2 Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000089421
Gene: ENSMUSG00000059336
AA Change: A311S

DomainStartEndE-ValueType
Pfam:UT 52 356 1.6e-120 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000160292
AA Change: A367S

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000125114
Gene: ENSMUSG00000059336
AA Change: A367S

DomainStartEndE-ValueType
Pfam:UT 110 405 6.3e-112 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000160639
AA Change: A311S

PolyPhen 2 Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000125367
Gene: ENSMUSG00000059336
AA Change: A311S

DomainStartEndE-ValueType
Pfam:UT 52 356 1.6e-120 PFAM
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 99.0%
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a membrane transporter that mediates urea transport in erythrocytes. This gene forms the basis for the Kidd blood group system. [provided by RefSeq, Mar 2009]
PHENOTYPE: Mice homozygous for disruptions in this gene display a grossly normal phenotype although they have an inability to concentrate urea in urine. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 37 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adgrg7 A G 16: 56,597,570 (GRCm39) F79S probably damaging Het
Ankrd60 A T 2: 173,412,987 (GRCm39) I167N probably benign Het
Atp13a3 G T 16: 30,168,506 (GRCm39) D494E probably damaging Het
Cep83 A C 10: 94,554,939 (GRCm39) H35P possibly damaging Het
Cpne3 A G 4: 19,555,477 (GRCm39) V6A probably benign Het
Dnm3 G A 1: 161,838,584 (GRCm39) A259V possibly damaging Het
Eftud2 T C 11: 102,737,056 (GRCm39) I575V probably benign Het
Eif4g1 A G 16: 20,500,255 (GRCm39) N676S possibly damaging Het
Foxp1 TTGCTGCTGCTGCTGCTGCTGCTGTTGCTGCTGCTGCTGTTGCTGCTGCTG TTGCTGCTGCTGCTGCTGCTGTTGCTGCTGCTGCTGTTGCTGCTGCTG 6: 99,052,926 (GRCm39) probably benign Het
Gal3st4 T A 5: 138,264,011 (GRCm39) K329N probably benign Het
Gm15446 T C 5: 110,088,314 (GRCm39) V9A probably damaging Het
Golim4 A T 3: 75,815,435 (GRCm39) probably null Het
Harbi1 T C 2: 91,542,689 (GRCm39) V50A probably damaging Het
Hcn2 T C 10: 79,564,787 (GRCm39) C400R probably damaging Het
Heatr6 T C 11: 83,668,188 (GRCm39) M894T probably damaging Het
Hid1 A T 11: 115,243,466 (GRCm39) H527Q Het
Ifitm1 C T 7: 140,548,227 (GRCm39) A20V probably benign Het
Klk1b11 T A 7: 43,427,850 (GRCm39) L213Q Het
Lepr A G 4: 101,590,473 (GRCm39) Y17C probably benign Het
N4bp3 A T 11: 51,536,493 (GRCm39) V113E probably damaging Het
Neb C T 2: 52,182,680 (GRCm39) R1062K probably benign Het
Nlrp4b T A 7: 10,444,295 (GRCm39) N81K probably benign Het
Nol6 A G 4: 41,120,298 (GRCm39) I473T probably benign Het
Nsd1 T A 13: 55,381,807 (GRCm39) S344T probably benign Het
Pals2 C A 6: 50,173,597 (GRCm39) A487E probably benign Het
Pde12 A G 14: 26,390,008 (GRCm39) Y234H possibly damaging Het
Pla2g4e C T 2: 120,015,680 (GRCm39) C288Y probably benign Het
Plekhd1 A G 12: 80,739,731 (GRCm39) T27A probably damaging Het
Pls1 T A 9: 95,644,057 (GRCm39) I480F probably damaging Het
Prom1 A G 5: 44,187,075 (GRCm39) I394T probably damaging Het
Ros1 A T 10: 51,994,249 (GRCm39) C1365S probably damaging Het
Rpgrip1l G A 8: 92,031,433 (GRCm39) T148M possibly damaging Het
Tap1 A C 17: 34,412,172 (GRCm39) D459A probably damaging Het
Tas2r125 T C 6: 132,887,023 (GRCm39) I137T probably benign Het
Tent5a C A 9: 85,206,677 (GRCm39) V374L probably benign Het
Ubr4 T C 4: 139,159,827 (GRCm39) probably null Het
Vmn1r172 T C 7: 23,359,193 (GRCm39) I26T possibly damaging Het
Other mutations in Slc14a1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00538:Slc14a1 APN 18 78,147,288 (GRCm39) missense probably damaging 1.00
Glen_eyrie UTSW 18 78,153,273 (GRCm39) critical splice acceptor site probably null
R1726:Slc14a1 UTSW 18 78,159,681 (GRCm39) missense probably benign 0.21
R1889:Slc14a1 UTSW 18 78,152,912 (GRCm39) missense possibly damaging 0.95
R1895:Slc14a1 UTSW 18 78,152,912 (GRCm39) missense possibly damaging 0.95
R3946:Slc14a1 UTSW 18 78,154,607 (GRCm39) missense probably benign 0.00
R4066:Slc14a1 UTSW 18 78,154,592 (GRCm39) missense probably damaging 0.99
R5511:Slc14a1 UTSW 18 78,145,686 (GRCm39) missense probably benign 0.01
R5763:Slc14a1 UTSW 18 78,159,629 (GRCm39) missense probably benign 0.33
R6228:Slc14a1 UTSW 18 78,159,614 (GRCm39) missense probably damaging 1.00
R6294:Slc14a1 UTSW 18 78,153,273 (GRCm39) critical splice acceptor site probably null
R7157:Slc14a1 UTSW 18 78,145,626 (GRCm39) missense probably benign 0.00
R7486:Slc14a1 UTSW 18 78,154,739 (GRCm39) missense probably benign 0.00
R7657:Slc14a1 UTSW 18 78,156,879 (GRCm39) critical splice donor site probably null
R8010:Slc14a1 UTSW 18 78,159,704 (GRCm39) missense probably benign 0.09
R8028:Slc14a1 UTSW 18 78,159,727 (GRCm39) missense probably benign 0.00
R8322:Slc14a1 UTSW 18 78,145,656 (GRCm39) missense possibly damaging 0.73
R8347:Slc14a1 UTSW 18 78,154,646 (GRCm39) missense probably benign
R8996:Slc14a1 UTSW 18 78,156,911 (GRCm39) missense possibly damaging 0.47
R9058:Slc14a1 UTSW 18 78,145,785 (GRCm39) critical splice acceptor site probably null
R9183:Slc14a1 UTSW 18 78,154,598 (GRCm39) missense probably benign 0.04
R9490:Slc14a1 UTSW 18 78,152,807 (GRCm39) missense probably damaging 1.00
R9602:Slc14a1 UTSW 18 78,152,807 (GRCm39) missense probably damaging 1.00
R9603:Slc14a1 UTSW 18 78,152,807 (GRCm39) missense probably damaging 1.00
R9605:Slc14a1 UTSW 18 78,152,807 (GRCm39) missense probably damaging 1.00
R9607:Slc14a1 UTSW 18 78,152,807 (GRCm39) missense probably damaging 1.00
R9609:Slc14a1 UTSW 18 78,152,807 (GRCm39) missense probably damaging 1.00
R9658:Slc14a1 UTSW 18 78,152,807 (GRCm39) missense probably damaging 1.00
R9660:Slc14a1 UTSW 18 78,152,807 (GRCm39) missense probably damaging 1.00
R9661:Slc14a1 UTSW 18 78,152,807 (GRCm39) missense probably damaging 1.00
R9663:Slc14a1 UTSW 18 78,152,807 (GRCm39) missense probably damaging 1.00
R9728:Slc14a1 UTSW 18 78,152,807 (GRCm39) missense probably damaging 1.00
R9730:Slc14a1 UTSW 18 78,152,807 (GRCm39) missense probably damaging 1.00
R9731:Slc14a1 UTSW 18 78,152,807 (GRCm39) missense probably damaging 1.00
R9733:Slc14a1 UTSW 18 78,152,807 (GRCm39) missense probably damaging 1.00
R9788:Slc14a1 UTSW 18 78,152,807 (GRCm39) missense probably damaging 1.00
Z1177:Slc14a1 UTSW 18 78,147,275 (GRCm39) missense probably benign
Predicted Primers PCR Primer
(F):5'- GCTCACACAGTTAGCTAGTGG -3'
(R):5'- AGCAACGGGATGTTTCTCCTG -3'

Sequencing Primer
(F):5'- GCTCACACAGTTAGCTAGTGGTAAAC -3'
(R):5'- AGAACAGCCTGCTCATTGTC -3'
Posted On 2022-09-12