Incidental Mutation 'IGL01640:Slc35f4'
ID93096
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Slc35f4
Ensembl Gene ENSMUSG00000021852
Gene Namesolute carrier family 35, member F4
Synonyms
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.178) question?
Stock #IGL01640
Quality Score
Status
Chromosome14
Chromosomal Location49298519-49526046 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to C at 49318768 bp
ZygosityHeterozygous
Amino Acid Change Valine to Glycine at position 176 (V176G)
Ref Sequence ENSEMBL: ENSMUSP00000154089 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000074368] [ENSMUST00000123534] [ENSMUST00000138884] [ENSMUST00000146164]
Predicted Effect probably benign
Transcript: ENSMUST00000074368
AA Change: V176G

PolyPhen 2 Score 0.024 (Sensitivity: 0.95; Specificity: 0.81)
SMART Domains Protein: ENSMUSP00000073972
Gene: ENSMUSG00000021852
AA Change: V176G

DomainStartEndE-ValueType
low complexity region 22 30 N/A INTRINSIC
transmembrane domain 123 145 N/A INTRINSIC
transmembrane domain 160 182 N/A INTRINSIC
Pfam:SLC35F 216 435 7.6e-8 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000123534
AA Change: V176G

PolyPhen 2 Score 0.024 (Sensitivity: 0.95; Specificity: 0.81)
SMART Domains Protein: ENSMUSP00000122405
Gene: ENSMUSG00000021852
AA Change: V176G

DomainStartEndE-ValueType
low complexity region 22 30 N/A INTRINSIC
transmembrane domain 123 145 N/A INTRINSIC
transmembrane domain 160 182 N/A INTRINSIC
transmembrane domain 217 234 N/A INTRINSIC
transmembrane domain 239 261 N/A INTRINSIC
transmembrane domain 274 296 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000135254
Predicted Effect possibly damaging
Transcript: ENSMUST00000138884
AA Change: V26G

PolyPhen 2 Score 0.902 (Sensitivity: 0.82; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000119007
Gene: ENSMUSG00000021852
AA Change: V26G

DomainStartEndE-ValueType
Pfam:EmrE 18 143 1e-12 PFAM
Pfam:EamA 57 135 8.4e-9 PFAM
Pfam:DUF914 68 314 4.8e-8 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000146164
AA Change: V176G

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 33 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700003H04Rik T C 3: 124,579,938 T3A probably damaging Het
4933402N03Rik A T 7: 131,139,119 S123T possibly damaging Het
Adamts17 A T 7: 67,029,680 T559S probably damaging Het
Adh4 C T 3: 138,429,027 probably benign Het
Arel1 G A 12: 84,920,701 T783M probably damaging Het
B3gntl1 C T 11: 121,673,020 E5K probably benign Het
Faf1 T A 4: 109,840,403 F309I probably damaging Het
Fhod3 T G 18: 25,115,793 M1343R probably benign Het
Fnbp1 A G 2: 31,105,291 F44L probably damaging Het
Gm3633 A T 14: 42,638,367 Y206* probably null Het
Gprc6a A C 10: 51,627,084 F228V probably damaging Het
Il31ra T C 13: 112,531,758 I453V possibly damaging Het
Kif2a A G 13: 106,974,552 I529T probably damaging Het
Lrrc19 C T 4: 94,638,508 V271I probably damaging Het
Ncaph2 A G 15: 89,363,838 probably null Het
Nek5 A G 8: 22,120,840 I49T probably benign Het
Nhlrc3 A T 3: 53,453,537 probably benign Het
Olfr616 A G 7: 103,565,021 V86A probably damaging Het
Olfr659 A T 7: 104,671,664 S321C probably damaging Het
Olfr945 C A 9: 39,258,263 M136I probably damaging Het
Pcnx2 T C 8: 125,801,558 T1308A probably benign Het
Pla2g6 T C 15: 79,304,313 N448S probably benign Het
Pole T A 5: 110,298,266 L571Q probably null Het
Rufy1 A G 11: 50,390,378 probably benign Het
Sftpd C A 14: 41,172,635 A276S probably benign Het
Snrpb T C 2: 130,175,331 D89G probably benign Het
Stab2 A T 10: 86,954,171 V577D probably benign Het
Synrg A C 11: 83,981,508 S152R probably damaging Het
Tcrg-V7 T C 13: 19,178,090 probably benign Het
Trpm1 A G 7: 64,226,897 E682G probably damaging Het
Unc80 T C 1: 66,679,585 I2989T probably benign Het
Vmn1r116 A G 7: 20,872,448 T65A probably benign Het
Zfp469 G A 8: 122,271,270 probably benign Het
Other mutations in Slc35f4
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01511:Slc35f4 APN 14 49298877 missense probably benign 0.15
IGL01942:Slc35f4 APN 14 49525505 splice site probably benign
IGL01990:Slc35f4 APN 14 49304169 critical splice donor site probably null
IGL02097:Slc35f4 APN 14 49306246 missense probably damaging 1.00
IGL02803:Slc35f4 APN 14 49304257 missense probably benign 0.00
R0005:Slc35f4 UTSW 14 49322486 splice site probably benign
R0238:Slc35f4 UTSW 14 49304256 missense possibly damaging 0.78
R0238:Slc35f4 UTSW 14 49304256 missense possibly damaging 0.78
R0239:Slc35f4 UTSW 14 49304256 missense possibly damaging 0.78
R0239:Slc35f4 UTSW 14 49304256 missense possibly damaging 0.78
R0764:Slc35f4 UTSW 14 49306339 splice site probably benign
R1884:Slc35f4 UTSW 14 49313634 missense probably damaging 1.00
R1916:Slc35f4 UTSW 14 49303923 intron probably benign
R2047:Slc35f4 UTSW 14 49303572 intron probably benign
R2239:Slc35f4 UTSW 14 49306203 critical splice donor site probably null
R2380:Slc35f4 UTSW 14 49306203 critical splice donor site probably null
R4273:Slc35f4 UTSW 14 49304301 missense possibly damaging 0.81
R4420:Slc35f4 UTSW 14 49313577 unclassified probably benign
R4425:Slc35f4 UTSW 14 49318850 missense possibly damaging 0.85
R5261:Slc35f4 UTSW 14 49303489 intron probably benign
R5398:Slc35f4 UTSW 14 49298847 missense probably damaging 1.00
R5402:Slc35f4 UTSW 14 49318874 missense probably damaging 1.00
R6310:Slc35f4 UTSW 14 49322457 missense probably damaging 1.00
R6596:Slc35f4 UTSW 14 49525600 missense probably damaging 1.00
R6729:Slc35f4 UTSW 14 49318960 missense probably benign 0.16
R6864:Slc35f4 UTSW 14 49318853 missense possibly damaging 0.55
R7427:Slc35f4 UTSW 14 49298898 missense probably damaging 0.99
R7428:Slc35f4 UTSW 14 49298898 missense probably damaging 0.99
R7559:Slc35f4 UTSW 14 49304275 missense probably benign 0.03
R7596:Slc35f4 UTSW 14 49306209 missense probably damaging 1.00
R7722:Slc35f4 UTSW 14 49306274 missense probably benign 0.22
R8263:Slc35f4 UTSW 14 49313627 missense probably damaging 1.00
R8525:Slc35f4 UTSW 14 49304224 missense possibly damaging 0.56
Posted On2013-12-09