Incidental Mutation 'R6904:Snx4'
ID 538708
Institutional Source Beutler Lab
Gene Symbol Snx4
Ensembl Gene ENSMUSG00000022808
Gene Name sorting nexin 4
Synonyms 1810036H14Rik
MMRRC Submission 045033-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.186) question?
Stock # R6904 (G1)
Quality Score 225.009
Status Not validated
Chromosome 16
Chromosomal Location 33071826-33119932 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 33115108 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Valine at position 430 (I430V)
Ref Sequence ENSEMBL: ENSMUSP00000023502 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000023502] [ENSMUST00000231389]
AlphaFold Q91YJ2
Predicted Effect probably damaging
Transcript: ENSMUST00000023502
AA Change: I430V

PolyPhen 2 Score 0.966 (Sensitivity: 0.77; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000023502
Gene: ENSMUSG00000022808
AA Change: I430V

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 probably benign
Transcript: ENSMUST00000231389
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.2%
  • 20x: 97.2%
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: 46 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2610021A01Rik T A 7: 41,275,516 (GRCm39) Y406* probably null Het
Acadvl T C 11: 69,905,159 (GRCm39) D109G probably benign Het
Adam24 G A 8: 41,134,542 (GRCm39) G670E probably damaging Het
Angpt1 T C 15: 42,323,136 (GRCm39) M378V probably benign Het
Ankrd33 G A 15: 101,014,993 (GRCm39) probably null Het
Apol7b G A 15: 77,307,625 (GRCm39) T290I probably benign Het
Atg4a-ps A G 3: 103,553,180 (GRCm39) W54R probably damaging Het
B3glct A G 5: 149,663,069 (GRCm39) probably null Het
Bmp7 A G 2: 172,714,706 (GRCm39) S368P probably damaging Het
Boc A G 16: 44,312,154 (GRCm39) V636A probably damaging Het
Cacna1i G A 15: 80,259,002 (GRCm39) R1237H probably damaging Het
Cdcp1 T C 9: 123,002,980 (GRCm39) D697G probably benign Het
Cep85l T C 10: 53,225,194 (GRCm39) T132A probably benign Het
Ces1b T A 8: 93,787,038 (GRCm39) Y447F probably damaging Het
Cfhr4 T G 1: 139,659,391 (GRCm39) N642H possibly damaging Het
Cntn4 A T 6: 106,674,544 (GRCm39) T1015S probably benign Het
Eea1 T G 10: 95,838,741 (GRCm39) probably null Het
Fcgbpl1 C T 7: 27,836,638 (GRCm39) R186C probably damaging Het
Hipk1 A T 3: 103,684,828 (GRCm39) N262K possibly damaging Het
Jmjd8 G A 17: 26,048,026 (GRCm39) R41H possibly damaging Het
Klhl3 T A 13: 58,178,259 (GRCm39) T344S probably damaging Het
Krt39 T C 11: 99,410,647 (GRCm39) D175G probably damaging Het
Map4k1 A G 7: 28,686,227 (GRCm39) Y81C probably damaging Het
Mpdu1 T A 11: 69,549,411 (GRCm39) T95S probably benign Het
Myl12b A T 17: 71,284,135 (GRCm39) I31N probably damaging Het
Ndufaf5 T A 2: 140,030,700 (GRCm39) Y195* probably null Het
Or4c119 G A 2: 88,987,157 (GRCm39) R121C possibly damaging Het
Or4d5 T C 9: 40,012,652 (GRCm39) I45V probably benign Het
Or51v15-ps1 A T 7: 103,278,790 (GRCm39) F126I probably benign Het
Or52z12 T A 7: 103,233,727 (GRCm39) I166N possibly damaging Het
Or5w17 A G 2: 87,584,223 (GRCm39) V38A probably benign Het
Oxgr1 T A 14: 120,259,431 (GRCm39) I259F possibly damaging Het
Pcdhb9 T A 18: 37,534,970 (GRCm39) D321E probably benign Het
Pi4kb G T 3: 94,900,461 (GRCm39) R392L probably damaging Het
Pramel18 G A 4: 101,767,291 (GRCm39) C180Y possibly damaging Het
Prss41 T C 17: 24,056,622 (GRCm39) K151R probably benign Het
Rev3l T A 10: 39,697,477 (GRCm39) V658D probably benign Het
Tanc2 C T 11: 105,726,056 (GRCm39) H407Y possibly damaging Het
Tcf25 G A 8: 124,127,437 (GRCm39) probably null Het
Tsc22d1 A T 14: 76,743,923 (GRCm39) K24* probably null Het
Vmn2r30 A G 7: 7,315,547 (GRCm39) F762S probably damaging Het
Xrcc6 A G 15: 81,913,323 (GRCm39) T319A probably benign Het
Zbtb1 C T 12: 76,432,985 (GRCm39) R324* probably null Het
Zc3h7a A G 16: 10,963,535 (GRCm39) Y729H probably damaging Het
Zfp329 C A 7: 12,540,457 (GRCm39) probably benign Het
Zfp456 A T 13: 67,514,384 (GRCm39) S441T 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
IGL02069:Snx4 APN 16 33,084,725 (GRCm39) missense probably damaging 1.00
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
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
Predicted Primers PCR Primer
(F):5'- GCTATACAAACGGGTTGATTGTG -3'
(R):5'- TGACAGTAGCACTTGGACCC -3'

Sequencing Primer
(F):5'- ACGGGTTGATTGTGCATGTAATATAC -3'
(R):5'- TAGCACTTGGACCCAGGAAGC -3'
Posted On 2018-11-06