Incidental Mutation 'R6228:Slc14a1'
ID 504521
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 044357-MU
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock # R6228 (G1)
Quality Score 225.009
Status Validated
Chromosome 18
Chromosomal Location 78100091-78142119 bp(-) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) A to C at 78116399 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Methionine to Arginine at position 93 (M93R)
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: M37R

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000089421
Gene: ENSMUSG00000059336
AA Change: M37R

DomainStartEndE-ValueType
Pfam:UT 52 356 1.6e-120 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000160292
AA Change: M93R

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000125114
Gene: ENSMUSG00000059336
AA Change: M93R

DomainStartEndE-ValueType
Pfam:UT 110 405 6.3e-112 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000160639
AA Change: M37R

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000125367
Gene: ENSMUSG00000059336
AA Change: M37R

DomainStartEndE-ValueType
Pfam:UT 52 356 1.6e-120 PFAM
Meta Mutation Damage Score 0.8542 question?
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.7%
  • 10x: 98.6%
  • 20x: 95.9%
Validation Efficiency 100% (93/93)
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: 93 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcc6 G T 7: 46,030,256 T9K probably benign Het
Ankrd28 T C 14: 31,707,220 H925R probably damaging Het
Antxrl A T 14: 34,056,599 T128S probably damaging Het
Atp8b5 T C 4: 43,304,674 Y62H probably damaging Het
AU019823 A G 9: 50,607,671 S214P possibly damaging Het
Bmpr2 G T 1: 59,867,436 V563L probably benign Het
Btn1a1 A T 13: 23,464,351 L104Q probably damaging Het
Caskin1 C G 17: 24,507,180 D1420E probably damaging Het
Cdc14a A T 3: 116,351,213 I150N probably damaging Het
Cdc26 C T 4: 62,402,794 R4Q probably damaging Het
Cfap46 T C 7: 139,656,580 D160G probably damaging Het
Cxcr4 A C 1: 128,592,183 probably null Het
Dab1 C T 4: 104,731,751 A524V probably benign Het
Dgat1 T C 15: 76,503,293 N317S possibly damaging Het
Disp1 G A 1: 183,099,025 T228M possibly damaging Het
Dixdc1 A C 9: 50,703,356 probably null Het
Dnase1l2 C A 17: 24,442,518 probably benign Het
Dsg2 T C 18: 20,594,293 probably null Het
Duox2 A T 2: 122,287,193 F887I probably benign Het
Efcab6 T C 15: 83,967,624 D351G possibly damaging Het
Ep400 A G 5: 110,670,942 V2621A probably damaging Het
Epg5 G T 18: 77,948,462 V125F possibly damaging Het
Ephb1 T C 9: 101,923,584 R953G probably damaging Het
Etfdh G T 3: 79,612,029 Y272* probably null Het
Fam117b A G 1: 59,969,048 E347G probably damaging Het
Fam214a A G 9: 75,006,363 M100V possibly damaging Het
Gfra3 A T 18: 34,695,793 C183S probably damaging Het
Gm4981 A G 10: 58,235,522 M290T probably benign Het
Gmip A G 8: 69,816,123 D466G probably damaging Het
Golga5 G A 12: 102,484,481 M464I probably benign Het
Gpd1 A T 15: 99,723,265 Q320L possibly damaging Het
H2-Oa G T 17: 34,093,877 D43Y probably damaging Het
Hecw1 T A 13: 14,346,038 I205F probably damaging Het
Ighv8-13 A G 12: 115,765,353 Y95H probably damaging Het
Igkv6-20 T C 6: 70,336,097 M31V possibly damaging Het
Itih1 T C 14: 30,931,260 D737G probably benign Het
Kcnc4 G C 3: 107,448,377 H252D probably damaging Het
Kcnj14 T A 7: 45,819,497 T195S probably damaging Het
Limch1 A T 5: 67,016,502 D642V probably damaging Het
Lrp2 T G 2: 69,482,366 D2526A possibly damaging Het
Lrrc8a A G 2: 30,256,553 T460A possibly damaging Het
Lrrn4cl A G 19: 8,851,771 T38A probably benign Het
Lypd8 A T 11: 58,386,803 Q137L possibly damaging Het
Mapkapk3 A G 9: 107,260,063 Y206H probably damaging Het
Mrc1 G A 2: 14,271,304 G483D probably benign Het
Mrpl35 C A 6: 71,823,677 probably benign Het
Mycbp2 T A 14: 103,260,229 H936L probably benign Het
Myh3 A T 11: 67,087,486 Y433F probably benign Het
Napb C T 2: 148,698,178 probably null Het
Nbeal1 C A 1: 60,295,924 Q2288K probably benign Het
Ndst3 G A 3: 123,671,652 Q224* probably null Het
Nkd2 A G 13: 73,821,460 S284P probably benign Het
Olfr1100 T C 2: 86,978,691 Y35C probably damaging Het
Olfr1448 A T 19: 12,919,937 V124E probably damaging Het
Olfr420 G A 1: 174,152,146 S210N probably benign Het
Olfr714 T C 7: 107,074,136 Y103H probably damaging Het
Pcdhb8 A G 18: 37,356,984 T572A probably benign Het
Pcdhb9 A G 18: 37,402,062 I370V probably benign Het
Pcsk5 T G 19: 17,581,267 E592A possibly damaging Het
Pigc T C 1: 161,970,467 V6A probably benign Het
Pla2g6 T G 15: 79,305,724 I389L probably benign Het
Pnliprp2 T C 19: 58,763,442 probably null Het
Psmb11 T C 14: 54,626,189 V288A probably benign Het
Rapgef5 A G 12: 117,721,663 probably null Het
Rcn3 T C 7: 45,083,296 N316S probably damaging Het
Rgs6 A G 12: 83,065,964 K183E probably damaging Het
Rhoc A G 3: 104,792,981 probably null Het
Serinc5 T C 13: 92,708,108 C453R probably damaging Het
Slc25a3 A T 10: 91,122,228 D83E probably damaging Het
Slc36a3 T C 11: 55,124,951 Y459C probably benign Het
Slc44a5 A T 3: 154,239,163 Y139F probably benign Het
Spag17 A T 3: 100,022,602 Q539L probably benign Het
Stap2 C T 17: 55,999,976 V234M probably damaging Het
Stard9 A G 2: 120,713,750 Y4450C probably damaging Het
Taf6l C T 19: 8,778,666 R206Q probably benign Het
Tbc1d23 C T 16: 57,182,903 V501I probably damaging Het
Thap2 T C 10: 115,372,846 H123R probably damaging Het
Tlx3 C A 11: 33,202,432 W221L probably benign Het
Tmem262 T A 19: 6,080,537 probably null Het
Tpmt C A 13: 47,027,259 R201S probably benign Het
Trpm6 T C 19: 18,854,291 S1507P probably damaging Het
Ttc9c T C 19: 8,818,483 E64G possibly damaging Het
Ttn A T 2: 76,810,446 S13653T probably damaging Het
Ugt3a1 G T 15: 9,310,640 W336L possibly damaging Het
Vmn1r215 C A 13: 23,076,463 N224K probably benign Het
Vmn2r59 C T 7: 42,042,411 probably null Het
Wdfy3 A G 5: 101,898,429 S1853P possibly damaging Het
Wdr36 A T 18: 32,842,006 Y137F possibly damaging Het
Zdhhc17 T C 10: 110,956,355 D324G probably benign Het
Zfp217 T C 2: 170,119,577 T277A probably benign Het
Zfp451 A G 1: 33,803,138 probably benign Het
Zfp709 TCGACG TCG 8: 71,890,708 probably benign Het
Zfp871 T C 17: 32,775,884 S106G 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
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
R9603: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'- ATCTCATAGGAGTAGGGCCCTG -3'
(R):5'- CTAAGCCAGCCAACTGTAGAG -3'

Sequencing Primer
(F):5'- CTGCACGCTACTTCAGTGAAAAAGG -3'
(R):5'- CAGCCAACTGTAGAGTTCTTTCTGG -3'
Posted On 2018-02-28