Incidental Mutation 'IGL03069:Snx1'
ID 409804
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Snx1
Ensembl Gene ENSMUSG00000032382
Gene Name sorting nexin 1
Synonyms
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # IGL03069
Quality Score
Status
Chromosome 9
Chromosomal Location 65995409-66032168 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 66001906 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Phenylalanine at position 306 (I306F)
Ref Sequence ENSEMBL: ENSMUSP00000034946 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000034946] [ENSMUST00000137542]
AlphaFold no structure available at present
Predicted Effect probably benign
Transcript: ENSMUST00000034946
AA Change: I306F

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000034946
Gene: ENSMUSG00000032382
AA Change: I306F

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 noncoding transcript
Transcript: ENSMUST00000132841
Predicted Effect probably benign
Transcript: ENSMUST00000137542
SMART Domains Protein: ENSMUSP00000120746
Gene: ENSMUSG00000032382

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: 47 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700029H14Rik T G 8: 13,607,704 (GRCm39) probably null Het
Acp3 T C 9: 104,197,204 (GRCm39) E145G possibly damaging Het
Ankrd28 T A 14: 31,477,743 (GRCm39) K42* probably null Het
Arsg A T 11: 109,454,082 (GRCm39) K429N probably damaging Het
Bsn G A 9: 107,991,462 (GRCm39) T1430I probably damaging Het
Calu A G 6: 29,356,582 (GRCm39) D36G possibly damaging Het
Ccdc18 T C 5: 108,376,767 (GRCm39) S1403P probably damaging Het
Cdca2 A G 14: 67,952,385 (GRCm39) probably benign Het
Cfh C A 1: 140,026,793 (GRCm39) probably benign Het
Cyp2c69 C T 19: 39,869,537 (GRCm39) G161S probably benign Het
Dennd4c C A 4: 86,692,674 (GRCm39) Y61* probably null Het
Diaph3 A G 14: 87,009,555 (GRCm39) S1075P probably damaging Het
Dpp7 T A 2: 25,245,735 (GRCm39) probably null Het
Dtd1 T A 2: 144,588,981 (GRCm39) probably benign Het
Dtl C A 1: 191,289,008 (GRCm39) probably benign Het
Exoc3l4 A G 12: 111,390,457 (GRCm39) D344G probably damaging Het
Hsp90ab1 A T 17: 45,879,954 (GRCm39) C159S possibly damaging Het
Kcnip2 T C 19: 45,784,710 (GRCm39) probably benign Het
Krba1 A G 6: 48,391,483 (GRCm39) T755A possibly damaging Het
L2hgdh C T 12: 69,739,173 (GRCm39) V433I probably benign Het
Lamc1 A T 1: 153,115,127 (GRCm39) L1050I probably damaging Het
Lgals4 A T 7: 28,540,343 (GRCm39) I213L probably benign Het
Lysmd1 A G 3: 95,044,945 (GRCm39) I64V probably damaging Het
Mfsd4b4 A C 10: 39,768,311 (GRCm39) C261G probably benign Het
Mrgprb3 T A 7: 48,293,198 (GRCm39) I118F possibly damaging Het
Mtmr2 T A 9: 13,704,501 (GRCm39) Y137* probably null Het
Ofcc1 A T 13: 40,226,140 (GRCm39) H797Q probably benign Het
Omd A T 13: 49,745,870 (GRCm39) probably benign Het
Or5d46 C T 2: 88,170,643 (GRCm39) probably null Het
Or8g21 A T 9: 38,906,728 (GRCm39) M1K probably null Het
Polr3a T A 14: 24,511,808 (GRCm39) D916V probably damaging Het
Prpf38a T C 4: 108,432,628 (GRCm39) Y117C probably damaging Het
Scn11a C T 9: 119,619,029 (GRCm39) G771D probably benign Het
Smarca4 C T 9: 21,547,132 (GRCm39) T219I probably benign Het
Snx31 T A 15: 36,525,749 (GRCm39) R317* probably null Het
Sorl1 T C 9: 41,902,722 (GRCm39) T1612A probably benign Het
Spag1 G T 15: 36,224,245 (GRCm39) probably benign Het
Stambp A G 6: 83,538,914 (GRCm39) F162S probably damaging Het
Tkfc T A 19: 10,576,518 (GRCm39) M122L probably benign Het
Tnni3k T A 3: 154,647,242 (GRCm39) probably null Het
Trim56 T C 5: 137,142,616 (GRCm39) Q300R probably damaging Het
Ttc24 T A 3: 87,977,408 (GRCm39) T113S probably benign Het
Xirp2 A T 2: 67,339,876 (GRCm39) T706S possibly damaging Het
Yipf5 T A 18: 40,339,290 (GRCm39) probably benign Het
Zfp202 T C 9: 40,122,695 (GRCm39) S486P probably damaging Het
Zfp407 A G 18: 84,369,100 (GRCm39) S1676P probably damaging Het
Znrd2 G T 19: 5,780,450 (GRCm39) L183I possibly damaging Het
Other mutations in Snx1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00806:Snx1 APN 9 65,996,867 (GRCm39) nonsense probably null
IGL01015:Snx1 APN 9 66,001,713 (GRCm39) missense possibly damaging 0.72
IGL02070:Snx1 APN 9 66,005,731 (GRCm39) missense probably damaging 0.97
IGL02225:Snx1 APN 9 66,016,903 (GRCm39) missense probably benign 0.03
IGL02984:Snx1 APN 9 65,996,390 (GRCm39) splice site probably benign
IGL03188:Snx1 APN 9 66,001,734 (GRCm39) missense probably damaging 1.00
FR4589:Snx1 UTSW 9 66,012,208 (GRCm39) small insertion probably benign
FR4976:Snx1 UTSW 9 66,012,212 (GRCm39) small insertion probably benign
FR4976:Snx1 UTSW 9 66,012,211 (GRCm39) small insertion probably benign
R0116:Snx1 UTSW 9 65,995,821 (GRCm39) nonsense probably null
R0243:Snx1 UTSW 9 66,008,608 (GRCm39) splice site probably benign
R0755:Snx1 UTSW 9 66,005,738 (GRCm39) missense probably damaging 1.00
R0981:Snx1 UTSW 9 66,016,841 (GRCm39) missense probably benign
R1495:Snx1 UTSW 9 66,003,879 (GRCm39) missense probably benign 0.23
R1528:Snx1 UTSW 9 66,016,825 (GRCm39) missense probably damaging 1.00
R1725:Snx1 UTSW 9 66,005,611 (GRCm39) critical splice donor site probably null
R3752:Snx1 UTSW 9 66,012,933 (GRCm39) splice site probably null
R4487:Snx1 UTSW 9 65,996,877 (GRCm39) missense possibly damaging 0.90
R4778:Snx1 UTSW 9 66,008,698 (GRCm39) intron probably benign
R4975:Snx1 UTSW 9 66,012,187 (GRCm39) nonsense probably null
R5043:Snx1 UTSW 9 66,004,718 (GRCm39) missense probably benign 0.04
R6346:Snx1 UTSW 9 66,001,930 (GRCm39) missense possibly damaging 0.62
R8063:Snx1 UTSW 9 66,004,676 (GRCm39) unclassified probably benign
R9679:Snx1 UTSW 9 65,998,002 (GRCm39) missense probably benign 0.14
RF045:Snx1 UTSW 9 66,012,204 (GRCm39) small insertion probably benign
T0722:Snx1 UTSW 9 66,012,209 (GRCm39) small insertion probably benign
Posted On 2016-08-02