Incidental Mutation 'IGL02069:Snx4'
ID 185730
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Snx4
Ensembl Gene ENSMUSG00000022808
Gene Name sorting nexin 4
Synonyms 1810036H14Rik
Accession Numbers
Essential gene? Probably non essential (E-score: 0.197) question?
Stock # IGL02069
Quality Score
Status
Chromosome 16
Chromosomal Location 33071826-33119932 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 33084725 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Histidine at position 80 (Y80H)
Ref Sequence ENSEMBL: ENSMUSP00000156185 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000023502] [ENSMUST00000231389]
AlphaFold Q91YJ2
Predicted Effect probably damaging
Transcript: ENSMUST00000023502
AA Change: Y80H

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000023502
Gene: ENSMUSG00000022808
AA Change: Y80H

DomainStartEndE-ValueType
low complexity region 11 24 N/A INTRINSIC
PX 56 184 1.86e-34 SMART
low complexity region 237 248 N/A INTRINSIC
coiled coil region 369 399 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000231242
Predicted Effect probably damaging
Transcript: ENSMUST00000231389
AA Change: Y80H

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000232228
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 protein associated with the long isoform of the leptin receptor and with receptor tyrosine kinases for platelet-derived growth factor, insulin, and epidermal growth factor in cell cultures, but its function is unknown. This protein may form oligomeric complexes with family members. Two transcript variants, one protein coding and the other non-protein coding, have been found for this gene. [provided by RefSeq, Nov 2012]
Allele List at MGI
Other mutations in this stock
Total: 40 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acan G A 7: 78,742,500 (GRCm39) V569M possibly damaging Het
Alms1 T C 6: 85,605,805 (GRCm39) V2016A probably benign Het
Apcdd1 T A 18: 63,083,054 (GRCm39) W295R probably damaging Het
Arid5b T A 10: 67,933,229 (GRCm39) D648V probably damaging Het
C2cd6 A G 1: 59,091,700 (GRCm39) probably benign Het
Cst12 A T 2: 148,634,368 (GRCm39) D101V probably damaging Het
Cyp46a1 T A 12: 108,312,394 (GRCm39) Y135N probably benign Het
D630045J12Rik T C 6: 38,161,007 (GRCm39) S1046G probably damaging Het
Dhtkd1 A T 2: 5,935,745 (GRCm39) Y122* probably null Het
Disp2 T A 2: 118,621,161 (GRCm39) I631N possibly damaging Het
Dna2 A G 10: 62,794,773 (GRCm39) I387V probably benign Het
Dnah7a A T 1: 53,601,053 (GRCm39) probably benign Het
Eif2ak3 T C 6: 70,873,949 (GRCm39) F954S probably damaging Het
Elp1 C T 4: 56,779,731 (GRCm39) G560D probably benign Het
Fancm C A 12: 65,122,685 (GRCm39) A69D probably benign Het
Fbxo34 T A 14: 47,767,070 (GRCm39) D143E probably damaging Het
Fchsd1 G A 18: 38,100,667 (GRCm39) R144* probably null Het
Fip1l1 A G 5: 74,752,534 (GRCm39) D402G probably damaging Het
Frem1 A G 4: 82,821,788 (GRCm39) S2107P probably damaging Het
Gm1527 A G 3: 28,980,763 (GRCm39) N621S possibly damaging Het
Hddc2 G A 10: 31,192,314 (GRCm39) D54N probably damaging Het
Ighm T A 12: 113,384,768 (GRCm39) probably benign Het
Il17d G T 14: 57,779,972 (GRCm39) E165* probably null Het
Kmt5b A T 19: 3,857,335 (GRCm39) K364M probably damaging Het
Ldb1 C A 19: 46,021,617 (GRCm39) W390L possibly damaging Het
Lgmn T C 12: 102,370,558 (GRCm39) E124G possibly damaging Het
Mroh2b A G 15: 4,933,806 (GRCm39) probably benign Het
Pga5 C T 19: 10,646,763 (GRCm39) G323S possibly damaging Het
Pkd1l3 A T 8: 110,362,012 (GRCm39) N1018I probably damaging Het
Polr2b A G 5: 77,491,044 (GRCm39) T962A probably benign Het
Ptger1 A G 8: 84,396,086 (GRCm39) E381G probably benign Het
Sec24a A T 11: 51,624,761 (GRCm39) probably benign Het
Serpine2 T A 1: 79,799,129 (GRCm39) I42F possibly damaging Het
Sh3tc1 C T 5: 35,876,339 (GRCm39) R122Q probably benign Het
Slc15a2 T C 16: 36,579,613 (GRCm39) I347V probably benign Het
Spata16 C A 3: 26,786,944 (GRCm39) C207* probably null Het
Syne2 A G 12: 75,974,186 (GRCm39) Q1128R probably benign Het
Tamalin A G 15: 101,122,346 (GRCm39) Y55C probably damaging Het
Trpm4 T A 7: 44,968,718 (GRCm39) N405I probably damaging Het
Upp2 A G 2: 58,661,429 (GRCm39) probably benign Het
Other mutations in Snx4
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01506:Snx4 APN 16 33,084,624 (GRCm39) splice site probably benign
IGL01831:Snx4 APN 16 33,104,792 (GRCm39) nonsense probably null
IGL03204:Snx4 APN 16 33,090,039 (GRCm39) missense probably benign 0.01
R1336:Snx4 UTSW 16 33,101,050 (GRCm39) missense probably benign 0.20
R1613:Snx4 UTSW 16 33,106,416 (GRCm39) missense probably damaging 1.00
R1901:Snx4 UTSW 16 33,104,808 (GRCm39) missense possibly damaging 0.95
R2177:Snx4 UTSW 16 33,106,428 (GRCm39) splice site probably null
R3147:Snx4 UTSW 16 33,108,094 (GRCm39) missense probably benign 0.08
R3148:Snx4 UTSW 16 33,108,094 (GRCm39) missense probably benign 0.08
R4380:Snx4 UTSW 16 33,084,666 (GRCm39) missense probably damaging 1.00
R4924:Snx4 UTSW 16 33,115,100 (GRCm39) missense probably benign 0.04
R6889:Snx4 UTSW 16 33,071,840 (GRCm39) missense possibly damaging 0.89
R6904:Snx4 UTSW 16 33,115,108 (GRCm39) missense probably damaging 0.97
R7355:Snx4 UTSW 16 33,087,236 (GRCm39) missense probably damaging 1.00
R7937:Snx4 UTSW 16 33,112,199 (GRCm39) missense probably damaging 1.00
R9234:Snx4 UTSW 16 33,108,069 (GRCm39) missense probably benign 0.00
R9234:Snx4 UTSW 16 33,087,161 (GRCm39) nonsense probably null
R9457:Snx4 UTSW 16 33,106,380 (GRCm39) missense probably benign 0.01
R9524:Snx4 UTSW 16 33,112,228 (GRCm39) nonsense probably null
Posted On 2014-05-07