Incidental Mutation 'IGL02836:Slc28a1'
ID361653
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Slc28a1
Ensembl Gene ENSMUSG00000025726
Gene Namesolute carrier family 28 (sodium-coupled nucleoside transporter), member 1
SynonymsCnt1
Accession Numbers

Genbank: NM_001004184; MGI: 3605073

Is this an essential gene? Probably non essential (E-score: 0.111) question?
Stock #IGL02836
Quality Score
Status
Chromosome7
Chromosomal Location81114799-81170416 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) G to A at 81126161 bp
ZygosityHeterozygous
Amino Acid Change Valine to Methionine at position 202 (V202M)
Ref Sequence ENSEMBL: ENSMUSP00000112421 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000026820] [ENSMUST00000119083]
Predicted Effect probably damaging
Transcript: ENSMUST00000026820
AA Change: V202M

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000026820
Gene: ENSMUSG00000025726
AA Change: V202M

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: V202M

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000112421
Gene: ENSMUSG00000025726
AA Change: V202M

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
Coding Region Coverage
Validation Efficiency
Allele List at MGI

All alleles(30) : Gene trapped(30)

Other mutations in this stock
Total: 52 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aadacl4 T A 4: 144,623,212 N346K possibly damaging Het
Abca15 A G 7: 120,388,216 M1242V probably benign Het
Abca6 T A 11: 110,248,548 E33D probably damaging Het
Abca8a T C 11: 110,070,351 K582E possibly damaging Het
Abcb6 A G 1: 75,178,002 L263P probably damaging Het
Adamts2 A C 11: 50,787,279 E795A probably damaging Het
Avil T A 10: 127,008,995 I292N probably damaging Het
Ccdc129 T A 6: 55,898,090 W342R probably damaging Het
Cd300ld2 T C 11: 115,013,750 D97G probably benign Het
Cfh A C 1: 140,102,399 I912R probably damaging Het
Cyp26c1 A T 19: 37,687,156 Q156L probably benign Het
Dhx57 T C 17: 80,267,549 I614V probably damaging Het
Dip2c T A 13: 9,610,790 S896T probably damaging Het
Dmtn G T 14: 70,616,078 P97Q probably damaging Het
Dock6 A T 9: 21,801,864 V1931E probably damaging Het
Dpep2 C A 8: 105,990,595 probably null Het
Dsg1c T A 18: 20,267,929 L163Q probably benign Het
Esyt3 A G 9: 99,320,907 probably benign Het
Fcgbp T A 7: 28,117,358 I2415N possibly damaging Het
Fpr-rs6 T C 17: 20,183,045 D18G probably benign Het
Fras1 T C 5: 96,534,866 V74A possibly damaging Het
Frem3 T C 8: 80,614,381 V1101A probably benign Het
Fut8 T A 12: 77,450,213 V399E probably benign Het
Galntl5 G T 5: 25,186,239 K45N probably benign Het
Gbe1 A G 16: 70,561,095 Y669C possibly damaging Het
Gcnt1 T C 19: 17,330,129 I77M probably benign Het
Mark2 A G 19: 7,278,040 probably null Het
Muc2 A T 7: 141,746,713 probably benign Het
Nacc2 C T 2: 26,090,317 V36I probably damaging Het
Nphp1 T C 2: 127,769,623 I268V probably benign Het
Olfr1154 T G 2: 87,903,380 T99P possibly damaging Het
Oosp3 A G 19: 11,700,968 I5V probably benign Het
Pex7 A G 10: 19,894,244 probably benign Het
Prr14l T C 5: 32,831,096 K352E probably benign Het
Rheb T A 5: 24,803,711 I170F probably benign Het
Rpgrip1 A G 14: 52,145,257 probably null Het
Rps2 T A 17: 24,720,676 L107Q probably damaging Het
Rrp1 A T 10: 78,405,040 probably benign Het
Rtcb A T 10: 85,943,942 V288D possibly damaging Het
Sec14l3 T C 11: 4,070,084 F174L probably benign Het
Slc44a3 A T 3: 121,531,717 C32S probably damaging Het
Syne1 G A 10: 5,409,875 probably benign Het
Synrg C A 11: 84,001,978 probably benign Het
Tmem219 A T 7: 126,888,949 F265I probably benign Het
Tmem94 T C 11: 115,792,939 I726T probably damaging Het
Trim37 T C 11: 87,196,959 M632T probably benign Het
Trpm6 A T 19: 18,813,482 Q627L probably damaging Het
Uvrag A G 7: 98,979,777 V361A possibly damaging Het
Yipf3 C A 17: 46,251,594 N308K possibly damaging Het
Zfp438 A G 18: 5,245,427 probably benign Het
Zmiz1 T A 14: 25,656,742 probably benign Het
Zranb3 A G 1: 127,960,825 V841A 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
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
R3804:Slc28a1 UTSW 7 81126221 missense probably damaging 1.00
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
Posted On2015-12-18