Incidental Mutation 'R6898:Snx11'
ID538462
Institutional Source Beutler Lab
Gene Symbol Snx11
Ensembl Gene ENSMUSG00000020876
Gene Namesorting nexin 11
Synonyms
MMRRC Submission
Accession Numbers
Is this an essential gene? Possibly non essential (E-score: 0.348) question?
Stock #R6898 (G1)
Quality Score185.009
Status Validated
Chromosome11
Chromosomal Location96767555-96777559 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) G to A at 96769062 bp
ZygosityHeterozygous
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]
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
1600015I10Rik A T 6: 48,931,041 Y325F probably damaging Het
4430402I18Rik T G 19: 28,944,288 Q146P probably benign Het
Ankrd7 G T 6: 18,868,101 probably null Het
Aplnr A T 2: 85,139,811 probably benign Het
Capns2 T C 8: 92,901,977 S165P probably damaging Het
Col25a1 T C 3: 130,584,728 probably null Het
Crocc2 T C 1: 93,215,582 V1302A probably benign Het
Cul9 C A 17: 46,511,026 R1841M possibly damaging Het
Dnhd1 T C 7: 105,687,377 L1213P probably damaging Het
Dscam A T 16: 96,829,900 I305K probably benign Het
Dsp A G 13: 38,192,217 E1326G possibly damaging Het
Emc9 A G 14: 55,584,910 probably null Het
Eppk1 A C 15: 76,111,926 S252A probably benign Het
Fn1 T A 1: 71,600,413 T1830S probably damaging Het
Fryl A T 5: 73,022,142 M2974K probably damaging Het
Gdpd3 C A 7: 126,771,029 S250* probably null Het
Gm13088 A T 4: 143,655,483 N214K probably damaging Het
Gm8994 T A 6: 136,328,619 V26E probably benign Het
Gnl3 A T 14: 31,013,179 S485R probably benign Het
Gpt2 G A 8: 85,518,052 E325K probably benign Het
Hsd17b3 T C 13: 64,059,525 Y234C probably benign Het
Lima1 T C 15: 99,781,267 H271R possibly damaging Het
Nfu1 G A 6: 87,017,052 probably null Het
Noto A G 6: 85,427,960 E97G probably damaging Het
Ntng1 T C 3: 109,872,218 K348E probably damaging Het
Olfr1242 C T 2: 89,494,250 G21R possibly damaging Het
Olfr1383 G A 11: 49,523,709 probably benign Het
Osmr C A 15: 6,815,883 V801F probably damaging Het
Papln A G 12: 83,777,460 E554G probably benign Het
Pitrm1 T C 13: 6,555,459 L175P probably damaging Het
Pramel7 T C 2: 87,489,726 T408A probably damaging Het
Serinc2 A T 4: 130,255,442 D322E probably benign Het
Setx T C 2: 29,148,108 V1535A probably benign Het
Sgce A T 6: 4,689,666 V389E probably damaging Het
Specc1 G A 11: 62,118,336 S306N probably benign Het
Spocd1 A G 4: 129,956,512 probably benign Het
St7 T A 6: 17,854,946 V294D probably damaging Het
Stab1 C T 14: 31,158,963 R624Q probably benign Het
Tcf21 T C 10: 22,819,504 I134V probably benign Het
Tgfb2 T A 1: 186,632,500 I266F probably damaging Het
Tgfbr3l A G 8: 4,250,365 I209M possibly damaging Het
Tmcc3 A G 10: 94,551,172 probably null Het
Toe1 A G 4: 116,807,474 S16P probably damaging Het
Vps16 T C 2: 130,437,681 V38A possibly damaging Het
Wnk2 G T 13: 49,071,081 D1001E probably damaging Het
Other mutations in Snx11
AlleleSourceChrCoordTypePredicted EffectPPH Score
R0918:Snx11 UTSW 11 96769278 missense possibly damaging 0.92
R1282:Snx11 UTSW 11 96773161 missense probably damaging 1.00
R1586:Snx11 UTSW 11 96770696 missense probably benign 0.14
R4838:Snx11 UTSW 11 96774458 missense possibly damaging 0.47
R5308:Snx11 UTSW 11 96770709 missense probably damaging 1.00
R6753:Snx11 UTSW 11 96769906 intron probably benign
R7092:Snx11 UTSW 11 96772839 missense probably damaging 1.00
R7266:Snx11 UTSW 11 96773159 missense probably damaging 1.00
R7836:Snx11 UTSW 11 96769206 missense possibly damaging 0.89
R7919:Snx11 UTSW 11 96769206 missense possibly damaging 0.89
R8022:Snx11 UTSW 11 96772854 missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- CTGAACTCACAAACACAGTGTG -3'
(R):5'- TCCAGTGATGGACTCTGAGG -3'

Sequencing Primer
(F):5'- CAAACACAGTGTGGCGTTTACTC -3'
(R):5'- ATGGACTCTGAGGGCCCATC -3'
Posted On2018-11-06