Incidental Mutation 'R3752:Snx1'
ID 271263
Institutional Source Beutler Lab
Gene Symbol Snx1
Ensembl Gene ENSMUSG00000032382
Gene Name sorting nexin 1
Synonyms
MMRRC Submission 040737-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R3752 (G1)
Quality Score 225
Status Validated
Chromosome 9
Chromosomal Location 65995409-66032168 bp(-) (GRCm39)
Type of Mutation splice site
DNA Base Change (assembly) A to T at 66012933 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000120746 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000034946] [ENSMUST00000137542]
AlphaFold no structure available at present
Predicted Effect probably null
Transcript: ENSMUST00000034946
SMART Domains Protein: ENSMUSP00000034946
Gene: ENSMUSG00000032382

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 null
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: ENSMUST00000145449
Predicted Effect noncoding transcript
Transcript: ENSMUST00000146893
Meta Mutation Damage Score 0.9755 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.6%
  • 10x: 97.2%
  • 20x: 94.8%
Validation Efficiency 100% (49/49)
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: 48 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A830018L16Rik T A 1: 11,588,904 (GRCm39) I107N probably damaging Het
Adh1 G A 3: 137,994,555 (GRCm39) V292I probably benign Het
Brd1 C T 15: 88,573,821 (GRCm39) V1093I possibly damaging Het
Cep170 A G 1: 176,610,061 (GRCm39) probably benign Het
Col4a4 G A 1: 82,458,215 (GRCm39) P1120S probably damaging Het
Cramp1 A T 17: 25,190,532 (GRCm39) N1067K probably damaging Het
Dhrs7c A G 11: 67,702,281 (GRCm39) T90A probably damaging Het
E2f1 C G 2: 154,405,942 (GRCm39) G144R probably damaging Het
Eml6 C A 11: 29,759,360 (GRCm39) V798F probably benign Het
Ext1 A T 15: 52,939,306 (GRCm39) V581E probably damaging Het
Fbf1 C T 11: 116,038,622 (GRCm39) R833Q probably benign Het
Fbln1 T A 15: 85,111,279 (GRCm39) C144* probably null Het
Gm10521 A G 1: 171,723,712 (GRCm39) T8A unknown Het
Hapln4 A T 8: 70,539,615 (GRCm39) L215F probably damaging Het
Hmgcr T C 13: 96,799,624 (GRCm39) I157V probably damaging Het
Irak4 T C 15: 94,459,476 (GRCm39) I364T probably damaging Het
Lama3 T A 18: 12,640,086 (GRCm39) C1700S probably damaging Het
Lama5 C T 2: 179,829,015 (GRCm39) C2042Y probably damaging Het
Lrrc9 T G 12: 72,507,580 (GRCm39) Y360* probably null Het
Lrrd1 T A 5: 3,900,282 (GRCm39) S196T probably benign Het
Mdc1 C T 17: 36,156,821 (GRCm39) A76V probably damaging Het
Mei1 C T 15: 81,970,383 (GRCm39) T428M probably damaging Het
Mib2 A G 4: 155,739,741 (GRCm39) F810S probably damaging Het
Nobox T G 6: 43,284,167 (GRCm39) K126N probably damaging Het
Ogn C T 13: 49,776,307 (GRCm39) L249F probably benign Het
Or10ag59 A G 2: 87,406,057 (GRCm39) I210V probably benign Het
Or6a2 A T 7: 106,600,682 (GRCm39) Y128* probably null Het
Paqr8 A G 1: 21,005,856 (GRCm39) T337A probably benign Het
Pcdhb15 T A 18: 37,606,810 (GRCm39) V14E probably damaging Het
Perm1 A T 4: 156,302,403 (GRCm39) I316L probably benign Het
Plxnb2 G A 15: 89,041,458 (GRCm39) probably benign Het
Rab3il1 A T 19: 10,007,841 (GRCm39) T227S probably benign Het
Rag2 A T 2: 101,461,121 (GRCm39) Y477F probably damaging Het
Ralgapa2 A T 2: 146,263,551 (GRCm39) V722E possibly damaging Het
Rbp3 A T 14: 33,677,969 (GRCm39) E639V probably damaging Het
Sh2b1 A G 7: 126,067,959 (GRCm39) V565A probably damaging Het
Skint6 T C 4: 112,700,096 (GRCm39) probably benign Het
Slc47a1 C T 11: 61,235,207 (GRCm39) R542Q possibly damaging Het
Slc6a5 T C 7: 49,586,062 (GRCm39) probably null Het
Slc9a8 C A 2: 167,299,272 (GRCm39) H215N probably benign Het
Slit1 C T 19: 41,635,406 (GRCm39) probably null Het
Tbc1d30 T A 10: 121,108,073 (GRCm39) N443I probably damaging Het
Tex15 T A 8: 34,061,443 (GRCm39) M565K probably benign Het
Traf3ip1 T C 1: 91,428,639 (GRCm39) probably benign Het
Traf3ip1 A G 1: 91,446,019 (GRCm39) D384G probably damaging Het
Vldlr G A 19: 27,215,731 (GRCm39) E243K probably damaging Het
Vps35 A G 8: 86,001,460 (GRCm39) S453P probably benign Het
Zfp644 A G 5: 106,784,249 (GRCm39) V766A probably benign 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
IGL03069:Snx1 APN 9 66,001,906 (GRCm39) missense 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
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
Predicted Primers PCR Primer
(F):5'- CAGACTGGCAGCAAGAAGTC -3'
(R):5'- CCTGTAAGGTTTTGAGTGACCAC -3'

Sequencing Primer
(F):5'- CTGGCAGCAAGAAGTCCCAAAG -3'
(R):5'- AAGACCCTCATCCTAGCTGTGATATG -3'
Posted On 2015-03-18