Incidental Mutation 'R6898:Snx11'
ID 538462
Institutional Source Beutler Lab
Gene Symbol Snx11
Ensembl Gene ENSMUSG00000020876
Gene Name sorting nexin 11
Synonyms A930041K09Rik, 4933439F10Rik
MMRRC Submission 044992-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.140) question?
Stock # R6898 (G1)
Quality Score 185.009
Status Validated
Chromosome 11
Chromosomal Location 96658381-96668385 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 96659888 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Isoleucine at position 267 (T267I)
Ref Sequence ENSEMBL: ENSMUSP00000103288 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000021246] [ENSMUST00000107661] [ENSMUST00000127375]
AlphaFold Q91WL6
Predicted Effect probably benign
Transcript: ENSMUST00000021246
AA Change: T267I

PolyPhen 2 Score 0.229 (Sensitivity: 0.91; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000021246
Gene: ENSMUSG00000020876
AA Change: T267I

DomainStartEndE-ValueType
PX 11 129 3.7e-20 SMART
low complexity region 185 196 N/A INTRINSIC
low complexity region 213 230 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000107661
AA Change: T267I

PolyPhen 2 Score 0.229 (Sensitivity: 0.91; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000103288
Gene: ENSMUSG00000020876
AA Change: T267I

DomainStartEndE-ValueType
PX 11 129 3.7e-20 SMART
low complexity region 185 196 N/A INTRINSIC
low complexity region 213 230 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000127375
SMART Domains Protein: ENSMUSP00000115789
Gene: ENSMUSG00000020876

DomainStartEndE-ValueType
PX 11 129 3.7e-20 SMART
Meta Mutation Damage Score 0.0627 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.2%
  • 20x: 97.5%
Validation Efficiency 100% (46/46)
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 does not contain a coiled coil region, like some family members. This gene encodes a protein of unknown function. This gene results in two transcript variants differing in the 5' UTR, but encoding the same protein. [provided by RefSeq, Jul 2008]
Allele List at MGI
Other mutations in this stock
Total: 45 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ankrd7 G T 6: 18,868,100 (GRCm39) probably null Het
Aoc1l2 A T 6: 48,907,975 (GRCm39) Y325F probably damaging Het
Aplnr A T 2: 84,970,155 (GRCm39) probably benign Het
Capns2 T C 8: 93,628,605 (GRCm39) S165P probably damaging Het
Col25a1 T C 3: 130,378,377 (GRCm39) probably null Het
Crocc2 T C 1: 93,143,304 (GRCm39) V1302A probably benign Het
Cul9 C A 17: 46,821,952 (GRCm39) R1841M possibly damaging Het
Dnhd1 T C 7: 105,336,584 (GRCm39) L1213P probably damaging Het
Dscam A T 16: 96,631,100 (GRCm39) I305K probably benign Het
Dsp A G 13: 38,376,193 (GRCm39) E1326G possibly damaging Het
Eif4a3l1 T A 6: 136,305,617 (GRCm39) V26E probably benign Het
Emc9 A G 14: 55,822,367 (GRCm39) probably null Het
Eppk1 A C 15: 75,996,126 (GRCm39) S252A probably benign Het
Fn1 T A 1: 71,639,572 (GRCm39) T1830S probably damaging Het
Fryl A T 5: 73,179,485 (GRCm39) M2974K probably damaging Het
Gdpd3 C A 7: 126,370,201 (GRCm39) S250* probably null Het
Gnl3 A T 14: 30,735,136 (GRCm39) S485R probably benign Het
Gpt2 G A 8: 86,244,681 (GRCm39) E325K probably benign Het
Hsd17b3 T C 13: 64,207,339 (GRCm39) Y234C probably benign Het
Lima1 T C 15: 99,679,148 (GRCm39) H271R possibly damaging Het
Nfu1 G A 6: 86,994,034 (GRCm39) probably null Het
Noto A G 6: 85,404,942 (GRCm39) E97G probably damaging Het
Ntng1 T C 3: 109,779,534 (GRCm39) K348E probably damaging Het
Or2y13 G A 11: 49,414,536 (GRCm39) probably benign Het
Or4a70 C T 2: 89,324,594 (GRCm39) G21R possibly damaging Het
Osmr C A 15: 6,845,364 (GRCm39) V801F probably damaging Het
Papln A G 12: 83,824,234 (GRCm39) E554G probably benign Het
Pitrm1 T C 13: 6,605,495 (GRCm39) L175P probably damaging Het
Pramel22 A T 4: 143,382,053 (GRCm39) N214K probably damaging Het
Pramel7 T C 2: 87,320,070 (GRCm39) T408A probably damaging Het
Serinc2 A T 4: 130,149,235 (GRCm39) D322E probably benign Het
Setx T C 2: 29,038,120 (GRCm39) V1535A probably benign Het
Sgce A T 6: 4,689,666 (GRCm39) V389E probably damaging Het
Spata6l T G 19: 28,921,688 (GRCm39) Q146P probably benign Het
Specc1 G A 11: 62,009,162 (GRCm39) S306N probably benign Het
Spocd1 A G 4: 129,850,305 (GRCm39) probably benign Het
St7 T A 6: 17,854,945 (GRCm39) V294D probably damaging Het
Stab1 C T 14: 30,880,920 (GRCm39) R624Q probably benign Het
Tcf21 T C 10: 22,695,403 (GRCm39) I134V probably benign Het
Tgfb2 T A 1: 186,364,697 (GRCm39) I266F probably damaging Het
Tgfbr3l A G 8: 4,300,365 (GRCm39) I209M possibly damaging Het
Tmcc3 A G 10: 94,387,034 (GRCm39) probably null Het
Toe1 A G 4: 116,664,671 (GRCm39) S16P probably damaging Het
Vps16 T C 2: 130,279,601 (GRCm39) V38A possibly damaging Het
Wnk2 G T 13: 49,224,557 (GRCm39) D1001E probably damaging Het
Other mutations in Snx11
AlleleSourceChrCoordTypePredicted EffectPPH Score
R0918:Snx11 UTSW 11 96,660,104 (GRCm39) missense possibly damaging 0.92
R1282:Snx11 UTSW 11 96,663,987 (GRCm39) missense probably damaging 1.00
R1586:Snx11 UTSW 11 96,661,522 (GRCm39) missense probably benign 0.14
R4838:Snx11 UTSW 11 96,665,284 (GRCm39) missense possibly damaging 0.47
R5308:Snx11 UTSW 11 96,661,535 (GRCm39) missense probably damaging 1.00
R6753:Snx11 UTSW 11 96,660,732 (GRCm39) intron probably benign
R7092:Snx11 UTSW 11 96,663,665 (GRCm39) missense probably damaging 1.00
R7266:Snx11 UTSW 11 96,663,985 (GRCm39) missense probably damaging 1.00
R7836:Snx11 UTSW 11 96,660,032 (GRCm39) missense possibly damaging 0.89
R8022:Snx11 UTSW 11 96,663,680 (GRCm39) missense probably damaging 1.00
R8098:Snx11 UTSW 11 96,661,500 (GRCm39) missense probably benign 0.02
R8220:Snx11 UTSW 11 96,661,885 (GRCm39) missense probably damaging 1.00
R8248:Snx11 UTSW 11 96,660,759 (GRCm39) missense unknown
R9524:Snx11 UTSW 11 96,660,023 (GRCm39) missense probably benign 0.05
R9722:Snx11 UTSW 11 96,661,925 (GRCm39) missense probably benign 0.06
Predicted Primers PCR Primer
(F):5'- CTGAACTCACAAACACAGTGTG -3'
(R):5'- TCCAGTGATGGACTCTGAGG -3'

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