Incidental Mutation 'R3804:Slc28a1'
ID274494
Institutional Source Beutler Lab
Gene Symbol Slc28a1
Ensembl Gene ENSMUSG00000025726
Gene Namesolute carrier family 28 (sodium-coupled nucleoside transporter), member 1
SynonymsCnt1
MMRRC Submission 040879-MU
Accession Numbers

Genbank: NM_001004184; MGI: 3605073

Is this an essential gene? Probably non essential (E-score: 0.119) question?
Stock #R3804 (G1)
Quality Score225
Status Validated
Chromosome7
Chromosomal Location81114799-81170416 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to T at 81126221 bp
ZygosityHeterozygous
Amino Acid Change Isoleucine to Phenylalanine at position 222 (I222F)
Ref Sequence ENSEMBL: ENSMUSP00000112421 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000026820] [ENSMUST00000119083]
Predicted Effect probably damaging
Transcript: ENSMUST00000026820
AA Change: I222F

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000026820
Gene: ENSMUSG00000025726
AA Change: I222F

DomainStartEndE-ValueType
transmembrane domain 82 104 N/A INTRINSIC
transmembrane domain 109 128 N/A INTRINSIC
transmembrane domain 149 168 N/A INTRINSIC
Pfam:Nucleos_tra2_N 183 257 1e-24 PFAM
Pfam:Gate 263 392 5.5e-10 PFAM
Pfam:Nucleos_tra2_C 366 591 4e-74 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000119083
AA Change: I222F

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000112421
Gene: ENSMUSG00000025726
AA Change: I222F

DomainStartEndE-ValueType
transmembrane domain 82 104 N/A INTRINSIC
transmembrane domain 109 128 N/A INTRINSIC
transmembrane domain 149 168 N/A INTRINSIC
Pfam:Nucleos_tra2_N 183 256 4.8e-27 PFAM
Pfam:Gate 263 364 1.1e-9 PFAM
Pfam:Nucleos_tra2_C 366 590 9.2e-76 PFAM
Meta Mutation Damage Score 0.2276 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.7%
  • 10x: 97.5%
  • 20x: 95.8%
Validation Efficiency 100% (67/67)
Allele List at MGI

All alleles(30) : Gene trapped(30)

Other mutations in this stock
Total: 66 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700011L22Rik C T 8: 79,248,293 E54K probably benign Het
2610301B20Rik A G 4: 10,898,014 T199A probably benign Het
Adgra1 A G 7: 139,845,594 T8A probably benign Het
Alms1 A G 6: 85,619,647 Y954C probably damaging Het
AU021092 A C 16: 5,216,762 F199V possibly damaging Het
Bahcc1 C T 11: 120,283,358 P1648L probably benign Het
Cacna1s T A 1: 136,107,018 C1319S possibly damaging Het
Capn13 G A 17: 73,339,401 P339L probably benign Het
Ccdc39 A T 3: 33,819,895 M596K probably damaging Het
Cntn5 A G 9: 9,781,663 probably benign Het
Cyth4 A G 15: 78,609,802 K159E probably damaging Het
Dgkz C A 2: 91,939,630 R563L probably benign Het
Dnah8 A G 17: 30,670,647 E718G probably benign Het
Dopey1 T C 9: 86,520,995 L1416P probably damaging Het
Dstyk G A 1: 132,449,726 A110T probably damaging Het
Eif1 A G 11: 100,320,824 K95E probably damaging Het
Espnl A G 1: 91,322,221 D30G probably benign Het
Gast T C 11: 100,336,810 S73P probably damaging Het
Gmppb T C 9: 108,050,574 Y176H probably damaging Het
Grap2 A G 15: 80,623,746 T4A possibly damaging Het
Grm8 T G 6: 28,125,636 N164H possibly damaging Het
Gstm3 G A 3: 107,964,235 T210I probably benign Het
Gtf3c3 A G 1: 54,424,007 probably null Het
Hmcn2 A G 2: 31,352,885 probably null Het
Icam2 A G 11: 106,380,822 L94P probably damaging Het
Iqcm C A 8: 75,669,393 T188K possibly damaging Het
Jarid2 T A 13: 44,902,831 N365K probably benign Het
Kank4 A G 4: 98,780,133 S26P probably damaging Het
Lgr4 A G 2: 110,008,197 K498E probably benign Het
Meltf A G 16: 31,884,998 H181R probably benign Het
Mslnl G A 17: 25,742,934 V128M probably damaging Het
Nf1 A G 11: 79,559,521 D511G probably null Het
Nhlrc3 A G 3: 53,458,631 V147A possibly damaging Het
Nrap C T 19: 56,321,779 D1595N probably damaging Het
Olfr1 T C 11: 73,395,950 Q24R probably benign Het
Olfr430 T A 1: 174,069,908 N203K probably damaging Het
Olfr481 A T 7: 108,081,171 I126F probably damaging Het
Olfr805 T A 10: 129,723,049 D165V possibly damaging Het
Pak3 G A X: 143,709,731 V87I probably damaging Het
Pgm2l1 T C 7: 100,252,267 V121A probably benign Het
Phf19 A G 2: 34,899,658 L350P probably damaging Het
Phf8 T C X: 151,572,576 S512P possibly damaging Het
Phkb G T 8: 85,922,229 E225* probably null Het
Pif1 T A 9: 65,588,306 V166E probably damaging Het
Plaa T C 4: 94,569,888 D615G probably damaging Het
Prpf4b T C 13: 34,883,682 probably benign Het
Rxra T C 2: 27,756,260 C374R probably damaging Het
Sept3 T C 15: 82,286,429 probably benign Het
Skint4 G T 4: 112,118,181 V113L probably damaging Het
Slc16a10 G C 10: 40,056,624 H314D possibly damaging Het
Slc22a15 C T 3: 101,897,274 G145D probably damaging Het
Slc43a2 T C 11: 75,563,598 L323P probably benign Het
Sorbs3 A G 14: 70,199,351 probably benign Het
Spink10 C T 18: 62,653,414 probably benign Het
Suclg2 A T 6: 95,497,668 I372N probably damaging Het
Sun1 C A 5: 139,225,362 C164* probably null Het
Tax1bp1 T C 6: 52,742,785 F453L probably benign Het
Tmem54 A G 4: 129,108,220 N9S probably benign Het
Tmx4 A G 2: 134,620,577 W145R probably damaging Het
Top1 A G 2: 160,702,768 H268R probably damaging Het
Ttn A G 2: 76,810,731 L13598P probably damaging Het
Vmn1r40 A G 6: 89,715,009 I269M probably benign Het
Wdr7 G T 18: 63,720,836 R80L probably benign Het
Zap70 A T 1: 36,771,142 Q111L possibly damaging Het
Zfp808 T A 13: 62,172,083 H375Q probably damaging Het
Zkscan2 A T 7: 123,495,142 probably benign Het
Other mutations in Slc28a1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00959:Slc28a1 APN 7 81169068 splice site probably benign
IGL01386:Slc28a1 APN 7 81164679 missense probably benign 0.01
IGL02586:Slc28a1 APN 7 81164419 missense probably benign 0.04
IGL02695:Slc28a1 APN 7 81167991 missense probably benign 0.00
IGL02836:Slc28a1 APN 7 81126161 missense probably damaging 1.00
7510:Slc28a1 UTSW 7 81169269 missense probably benign
R0206:Slc28a1 UTSW 7 81117706 splice site probably benign
R0208:Slc28a1 UTSW 7 81117706 splice site probably benign
R0379:Slc28a1 UTSW 7 81138177 missense probably benign
R0733:Slc28a1 UTSW 7 81124900 missense probably benign 0.37
R1435:Slc28a1 UTSW 7 81153517 missense probably damaging 1.00
R1827:Slc28a1 UTSW 7 81138202 missense possibly damaging 0.85
R1909:Slc28a1 UTSW 7 81142035 missense probably damaging 1.00
R1917:Slc28a1 UTSW 7 81169586 missense probably benign 0.00
R2147:Slc28a1 UTSW 7 81126267 missense possibly damaging 0.94
R4004:Slc28a1 UTSW 7 81169038 missense probably damaging 1.00
R4967:Slc28a1 UTSW 7 81142009 missense possibly damaging 0.91
R5055:Slc28a1 UTSW 7 81169048 missense possibly damaging 0.77
R5256:Slc28a1 UTSW 7 81122121 missense probably damaging 0.98
R5494:Slc28a1 UTSW 7 81168039 missense probably damaging 1.00
R5924:Slc28a1 UTSW 7 81115612 missense probably benign 0.26
R6062:Slc28a1 UTSW 7 81115563 nonsense probably null
R6229:Slc28a1 UTSW 7 81125005 missense probably benign 0.00
R6737:Slc28a1 UTSW 7 81169248 missense probably benign 0.21
R8177:Slc28a1 UTSW 7 81164416 missense probably benign 0.05
RF018:Slc28a1 UTSW 7 81169284 splice site probably null
X0020:Slc28a1 UTSW 7 81124963 missense possibly damaging 0.85
Z1088:Slc28a1 UTSW 7 81138168 missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- TAACTGTTGGCAGCAGACCC -3'
(R):5'- CAACCCAGATATAGAGTCCTAGTC -3'

Sequencing Primer
(F):5'- GGCAGGACAAAGCTCCTTATGTTC -3'
(R):5'- ATATAGAGTCCTAGTCGTTTTTGTCC -3'
Posted On2015-04-02