Incidental Mutation 'R9603:Slc14a1'
ID 723810
Institutional Source Beutler Lab
Gene Symbol Slc14a1
Ensembl Gene ENSMUSG00000059336
Gene Name solute carrier family 14 (urea transporter), member 1
Synonyms UT-B, 2610507K20Rik, 3021401A05Rik
MMRRC Submission
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R9603 (G1)
Quality Score 225.009
Status Not validated
Chromosome 18
Chromosomal Location 78100091-78142119 bp(-) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) C to A at 78109592 bp (GRCm38)
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: 99.6%
  • 20x: 98.8%
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: 49 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
5430419D17Rik T C 7: 131,228,914 V359A probably damaging Het
Acsl6 A T 11: 54,335,085 N317I probably damaging Het
Adam18 T A 8: 24,628,131 S590C possibly damaging Het
Btrc G A 19: 45,471,087 E103K probably benign Het
Cars A G 7: 143,559,192 M766T possibly damaging Het
Cavin4 T C 4: 48,671,999 V148A probably benign Het
Cdkn2d T C 9: 21,290,843 D36G possibly damaging Het
Cubn A T 2: 13,287,699 D3224E probably damaging Het
Ebf1 A G 11: 44,618,179 M1V probably null Het
Fcgbp A G 7: 28,103,138 D1497G probably damaging Het
Foxs1 A C 2: 152,932,361 C257W probably damaging Het
Fstl5 C T 3: 76,588,953 P341L probably damaging Het
Fzd10 G A 5: 128,601,707 G164S probably benign Het
Gm13103 T C 4: 143,851,697 S176P Het
Gm5662 T G 12: 88,271,957 N11T unknown Het
Hrh3 C A 2: 180,100,651 E395* probably null Het
Hsf4 G A 8: 105,272,803 V318M probably damaging Het
Il21 T C 3: 37,227,800 E65G possibly damaging Het
Kank1 A G 19: 25,430,925 D1256G possibly damaging Het
Klhl22 A G 16: 17,777,051 N348S possibly damaging Het
Krr1 T C 10: 111,976,767 I94T probably damaging Het
Lpin2 A G 17: 71,243,415 D724G probably damaging Het
Mn1 C A 5: 111,418,527 P121Q probably damaging Het
Mphosph9 A T 5: 124,324,952 L10* probably null Het
Mtus1 A T 8: 41,083,758 V307E probably benign Het
Muc20 A G 16: 32,794,785 L74P probably damaging Het
Nnat A G 2: 157,561,781 *113W probably null Het
Olfr1306 A G 2: 111,912,783 V49A possibly damaging Het
Olfr38 C T 6: 42,762,738 Q229* probably null Het
Olfr539 G T 7: 140,667,881 C191F probably damaging Het
Olfr711 A T 7: 106,971,896 Y149* probably null Het
Pkm T A 9: 59,670,548 V216E probably damaging Het
Pla2g12a G A 3: 129,881,251 V19I unknown Het
Rai14 G A 15: 10,595,030 Q136* probably null Het
Rnf150 T A 8: 82,990,579 N238K possibly damaging Het
Rrp1 A G 10: 78,404,923 probably null Het
Scaf8 T A 17: 3,195,795 L720M possibly damaging Het
Slamf1 G T 1: 171,798,203 V316L probably damaging Het
Slc25a20 T C 9: 108,672,476 F86L probably benign Het
Slc4a5 T G 6: 83,240,732 S131A probably benign Het
Slitrk3 A G 3: 73,051,316 I41T probably benign Het
Sntg1 A T 1: 8,677,974 L94Q probably damaging Het
St18 T C 1: 6,845,587 C819R probably damaging Het
St6galnac3 T A 3: 153,411,540 D182V probably benign Het
Tubgcp2 T A 7: 140,004,876 T549S probably benign Het
Vim A T 2: 13,574,337 probably benign Het
Vmn2r118 C A 17: 55,592,837 R689I probably damaging Het
Zbtb41 A T 1: 139,447,517 E905V probably damaging Het
Zfyve9 A T 4: 108,642,091 D1284E possibly damaging Het
Other mutations in Slc14a1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00538:Slc14a1 APN 18 78104073 missense probably damaging 1.00
Glen_eyrie UTSW 18 78110058 critical splice acceptor site probably null
R1726:Slc14a1 UTSW 18 78116466 missense probably benign 0.21
R1889:Slc14a1 UTSW 18 78109697 missense possibly damaging 0.95
R1895:Slc14a1 UTSW 18 78109697 missense possibly damaging 0.95
R3946:Slc14a1 UTSW 18 78111392 missense probably benign 0.00
R4066:Slc14a1 UTSW 18 78111377 missense probably damaging 0.99
R5511:Slc14a1 UTSW 18 78102471 missense probably benign 0.01
R5763:Slc14a1 UTSW 18 78116414 missense probably benign 0.33
R6228:Slc14a1 UTSW 18 78116399 missense probably damaging 1.00
R6294:Slc14a1 UTSW 18 78110058 critical splice acceptor site probably null
R7157:Slc14a1 UTSW 18 78102411 missense probably benign 0.00
R7486:Slc14a1 UTSW 18 78111524 missense probably benign 0.00
R7657:Slc14a1 UTSW 18 78113664 critical splice donor site probably null
R8010:Slc14a1 UTSW 18 78116489 missense probably benign 0.09
R8028:Slc14a1 UTSW 18 78116512 missense probably benign 0.00
R8322:Slc14a1 UTSW 18 78102441 missense possibly damaging 0.73
R8347:Slc14a1 UTSW 18 78111431 missense probably benign
R8996:Slc14a1 UTSW 18 78113696 missense possibly damaging 0.47
R9058:Slc14a1 UTSW 18 78102570 critical splice acceptor site probably null
R9183:Slc14a1 UTSW 18 78111383 missense probably benign 0.04
R9490:Slc14a1 UTSW 18 78109592 missense probably damaging 1.00
R9602:Slc14a1 UTSW 18 78109592 missense probably damaging 1.00
R9604:Slc14a1 UTSW 18 78109592 missense probably damaging 1.00
R9605:Slc14a1 UTSW 18 78109592 missense probably damaging 1.00
R9607:Slc14a1 UTSW 18 78109592 missense probably damaging 1.00
R9609:Slc14a1 UTSW 18 78109592 missense probably damaging 1.00
R9658:Slc14a1 UTSW 18 78109592 missense probably damaging 1.00
R9660:Slc14a1 UTSW 18 78109592 missense probably damaging 1.00
R9661:Slc14a1 UTSW 18 78109592 missense probably damaging 1.00
R9663:Slc14a1 UTSW 18 78109592 missense probably damaging 1.00
R9728:Slc14a1 UTSW 18 78109592 missense probably damaging 1.00
R9730:Slc14a1 UTSW 18 78109592 missense probably damaging 1.00
R9731:Slc14a1 UTSW 18 78109592 missense probably damaging 1.00
R9733:Slc14a1 UTSW 18 78109592 missense probably damaging 1.00
R9788:Slc14a1 UTSW 18 78109592 missense probably damaging 1.00
Z1177:Slc14a1 UTSW 18 78104060 missense probably benign
Predicted Primers PCR Primer
(F):5'- GCTCTGCTCACACAGTTAGC -3'
(R):5'- GGGATGTTTCTCCTGATCCCAC -3'

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