Incidental Mutation 'IGL02070:Snx1'
ID185776
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Snx1
Ensembl Gene ENSMUSG00000032382
Gene Namesorting nexin 1
Synonyms
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL02070
Quality Score
Status
Chromosome9
Chromosomal Location66088133-66126587 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to T at 66098449 bp
ZygosityHeterozygous
Amino Acid Change Serine to Arginine at position 129 (S129R)
Ref Sequence ENSEMBL: ENSMUSP00000120746 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000034946] [ENSMUST00000137542]
Predicted Effect probably benign
Transcript: ENSMUST00000034946
AA Change: S177R

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000034946
Gene: ENSMUSG00000032382
AA Change: S177R

DomainStartEndE-ValueType
Pfam:Sorting_nexin 10 137 2.6e-29 PFAM
PX 140 267 7.59e-40 SMART
Pfam:Vps5 283 516 3.2e-86 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000137542
AA Change: S129R

PolyPhen 2 Score 0.973 (Sensitivity: 0.76; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000120746
Gene: ENSMUSG00000032382
AA Change: S129R

DomainStartEndE-ValueType
Pfam:Sorting_nexin 3 89 6.9e-25 PFAM
PX 92 192 2.37e-9 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000139872
Predicted Effect noncoding transcript
Transcript: ENSMUST00000143148
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the sorting nexin family. Members of this family contain a phox (PX) domain, which is a phosphoinositide binding domain, and are involved in intracellular trafficking. This endosomal protein regulates the cell-surface expression of epidermal growth factor receptor. This protein also has a role in sorting protease-activated receptor-1 from early endosomes to lysosomes. This protein may form oligomeric complexes with family members. This gene results in three transcript variants encoding distinct isoforms. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygous mutant mice are viable and fertile and do not exhibit any apparent abnormalities. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 44 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4921501E09Rik T C 17: 33,066,130 E566G probably damaging Het
Adgrg6 A G 10: 14,467,592 Y204H probably damaging Het
Akap13 C A 7: 75,666,545 T583K probably benign Het
Alms1 C A 6: 85,651,403 Q2948K possibly damaging Het
Auts2 C T 5: 131,470,421 R327Q probably damaging Het
Card14 A C 11: 119,344,704 E988A probably damaging Het
Ccl25 T C 8: 4,348,700 probably benign Het
Cttnbp2nl A C 3: 105,011,266 V86G probably damaging Het
Cyb5r2 G A 7: 107,751,187 T213I probably damaging Het
Ear6 A G 14: 51,854,446 H150R probably damaging Het
Ecm2 T C 13: 49,518,370 C116R probably damaging Het
Gabrr2 G T 4: 33,095,340 E385* probably null Het
Hyal5 T A 6: 24,876,962 V278D probably damaging Het
Mboat1 T C 13: 30,224,397 L181P probably benign Het
Mdm1 A G 10: 118,146,618 I53V probably damaging Het
Mfrp T C 9: 44,104,689 Y368H probably benign Het
Myo1b A G 1: 51,794,337 V365A probably damaging Het
Nexmif G T X: 104,083,211 H1509Q probably benign Het
Nlrp4a G T 7: 26,449,278 K103N possibly damaging Het
Obox6 G A 7: 15,834,879 S24L probably damaging Het
Olfr1184 T A 2: 88,487,002 I90N probably damaging Het
Olfr682-ps1 G T 7: 105,127,047 L85I probably benign Het
Optc T A 1: 133,901,176 I178F probably damaging Het
Pcdh15 T A 10: 74,630,868 N1535K probably benign Het
Pcdhb19 A T 18: 37,498,544 N464I probably damaging Het
Pcsk5 C T 19: 17,439,042 V1681I probably benign Het
Pknox1 T A 17: 31,603,365 probably benign Het
Ppa2 T C 3: 133,377,862 F327S probably damaging Het
Rab39b G T X: 75,574,703 L174M probably damaging Het
Reep5 A T 18: 34,372,473 Y48* probably null Het
Rnf123 G A 9: 108,068,302 R390* probably null Het
Sar1a T A 10: 61,684,894 probably benign Het
Satb1 T A 17: 51,740,067 D740V probably damaging Het
Sema3f G A 9: 107,692,241 T128I probably damaging Het
Sptb T A 12: 76,605,539 K1641N possibly damaging Het
Sptbn1 T C 11: 30,145,979 E305G probably damaging Het
Srrm1 G A 4: 135,325,104 P658L unknown Het
Taar7d A T 10: 24,028,254 I345F probably benign Het
Tes T C 6: 17,099,780 L258P probably damaging Het
Trav9-4 A T 14: 53,676,360 T24S possibly damaging Het
Utp20 A G 10: 88,821,877 probably benign Het
Vcam1 T A 3: 116,125,997 T207S probably benign Het
Xkrx T C X: 134,150,562 S447G probably benign Het
Zfp318 T C 17: 46,396,718 L234P probably damaging Het
Other mutations in Snx1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00806:Snx1 APN 9 66089585 nonsense probably null
IGL01015:Snx1 APN 9 66094431 missense possibly damaging 0.72
IGL02225:Snx1 APN 9 66109621 missense probably benign 0.03
IGL02984:Snx1 APN 9 66089108 splice site probably benign
IGL03069:Snx1 APN 9 66094624 missense probably benign
IGL03188:Snx1 APN 9 66094452 missense probably damaging 1.00
FR4589:Snx1 UTSW 9 66104926 small insertion probably benign
FR4976:Snx1 UTSW 9 66104929 small insertion probably benign
FR4976:Snx1 UTSW 9 66104930 small insertion probably benign
R0116:Snx1 UTSW 9 66088539 nonsense probably null
R0243:Snx1 UTSW 9 66101326 splice site probably benign
R0755:Snx1 UTSW 9 66098456 missense probably damaging 1.00
R0981:Snx1 UTSW 9 66109559 missense probably benign
R1495:Snx1 UTSW 9 66096597 missense probably benign 0.23
R1528:Snx1 UTSW 9 66109543 missense probably damaging 1.00
R1725:Snx1 UTSW 9 66098329 critical splice donor site probably null
R3752:Snx1 UTSW 9 66105651 splice site probably null
R4487:Snx1 UTSW 9 66089595 missense possibly damaging 0.90
R4778:Snx1 UTSW 9 66101416 intron probably benign
R4975:Snx1 UTSW 9 66104905 nonsense probably null
R5043:Snx1 UTSW 9 66097436 missense probably benign 0.04
R6346:Snx1 UTSW 9 66094648 missense possibly damaging 0.62
RF045:Snx1 UTSW 9 66104922 small insertion probably benign
T0722:Snx1 UTSW 9 66104927 small insertion probably benign
Posted On2014-05-07