Incidental Mutation 'R8022:Snx11'
ID 617475
Institutional Source Beutler Lab
Gene Symbol Snx11
Ensembl Gene ENSMUSG00000020876
Gene Name sorting nexin 11
Synonyms
MMRRC Submission 067461-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.200) question?
Stock # R8022 (G1)
Quality Score 225.009
Status Not validated
Chromosome 11
Chromosomal Location 96767555-96777559 bp(-) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) G to A at 96772854 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Threonine to Methionine at position 53 (T53M)
Ref Sequence ENSEMBL: ENSMUSP00000021246 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000021246] [ENSMUST00000107661] [ENSMUST00000127375]
AlphaFold Q91WL6
Predicted Effect probably damaging
Transcript: ENSMUST00000021246
AA Change: T53M

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000021246
Gene: ENSMUSG00000020876
AA Change: T53M

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 damaging
Transcript: ENSMUST00000107661
AA Change: T53M

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000103288
Gene: ENSMUSG00000020876
AA Change: T53M

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 possibly damaging
Transcript: ENSMUST00000127375
AA Change: T53M

PolyPhen 2 Score 0.880 (Sensitivity: 0.82; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000115789
Gene: ENSMUSG00000020876
AA Change: T53M

DomainStartEndE-ValueType
PX 11 129 3.7e-20 SMART
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.6%
  • 20x: 98.6%
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 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: 87 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acacb A T 5: 114,223,854 T1386S probably benign Het
AI661453 T G 17: 47,466,236 S296A unknown Het
Ambp G T 4: 63,144,197 N268K probably damaging Het
Ankrd11 T C 8: 122,887,593 K2503E probably damaging Het
Ap1g1 C A 8: 109,832,735 R221S possibly damaging Het
Ap5z1 T C 5: 142,470,149 probably null Het
Aspa A C 11: 73,322,206 N103K probably benign Het
BC049730 T A 7: 24,714,174 I205N possibly damaging Het
Bend7 G A 2: 4,752,779 V211I probably benign Het
Bsn A G 9: 108,114,404 M1383T probably benign Het
Cad G T 5: 31,068,806 V1117F probably damaging Het
Cdh2 A G 18: 16,590,301 L856S probably damaging Het
Cdh7 T A 1: 110,061,108 S247T probably benign Het
Ces1b A G 8: 93,069,315 probably null Het
Chd7 T A 4: 8,751,605 V34E unknown Het
Clca3a2 A T 3: 144,805,766 F623I probably damaging Het
Cope T G 8: 70,312,803 M217R probably benign Het
Crim1 T A 17: 78,315,555 I394N possibly damaging Het
Crnkl1 A T 2: 145,918,566 I644N probably damaging Het
Cry1 G A 10: 85,146,402 A360V probably damaging Het
Ctcfl A T 2: 173,118,766 V8D probably benign Het
Cyp2d34 G A 15: 82,616,114 Q475* probably null Het
Cyp39a1 T C 17: 43,746,577 Y436H probably damaging Het
Cyp3a25 T A 5: 145,977,668 Q484L probably benign Het
Dnah1 A G 14: 31,265,014 F3607S probably damaging Het
Dnali1 T A 4: 125,065,530 K23N possibly damaging Het
Ecel1 T C 1: 87,153,330 I313V probably benign Het
Ehhadh C A 16: 21,777,820 A53S probably benign Het
Epcam T C 17: 87,646,308 S277P probably benign Het
Fbxo10 T C 4: 45,062,062 I155V possibly damaging Het
Fgd6 A T 10: 94,044,344 K353N possibly damaging Het
Glce A T 9: 62,060,591 M426K probably benign Het
Glmp A T 3: 88,326,520 N228I probably damaging Het
Gm4787 C A 12: 81,377,720 V555F possibly damaging Het
Gm5114 T A 7: 39,409,376 H273L probably benign Het
Gzmg T A 14: 56,157,446 T122S probably benign Het
Hace1 T C 10: 45,700,970 V820A probably damaging Het
Igf2r T A 17: 12,718,795 D535V probably damaging Het
Kcnd3 A G 3: 105,458,873 M20V probably benign Het
Kcnn3 T G 3: 89,609,703 I473S possibly damaging Het
Klhl35 T A 7: 99,473,239 F94Y unknown Het
Kmt2c C T 5: 25,281,680 V4712I possibly damaging Het
Lepr A G 4: 101,782,557 E740G probably benign Het
Lmod3 T C 6: 97,248,299 D187G probably benign Het
Lsm3 C T 6: 91,519,561 H49Y probably benign Het
Magi1 T C 6: 93,697,365 S962G probably damaging Het
Man2b1 G A 8: 85,095,613 R782Q probably damaging Het
Mical2 A T 7: 112,303,767 K148N probably damaging Het
Nbeal1 C T 1: 60,260,272 Q1256* probably null Het
Ncam1 G T 9: 49,564,892 A299D possibly damaging Het
Ncapg A G 5: 45,681,794 D512G probably damaging Het
Nkiras2 A G 11: 100,624,287 N28D probably benign Het
Nprl2 A C 9: 107,543,061 K53T probably damaging Het
Nr4a3 T A 4: 48,051,510 I88N probably damaging Het
Oas3 A G 5: 120,756,966 I986T possibly damaging Het
Olfr809 A T 10: 129,776,785 L305F possibly damaging Het
Pcsk1 A T 13: 75,099,293 Y187F possibly damaging Het
Pgc A G 17: 47,728,776 T32A probably benign Het
Ranbp2 A C 10: 58,485,861 D2660A possibly damaging Het
Retreg1 A G 15: 25,843,479 R46G Het
Rrbp1 C A 2: 143,956,792 K1100N probably benign Het
Rsph10b A T 5: 143,967,232 T676S probably benign Het
Setdb1 A T 3: 95,338,599 F672I probably damaging Het
Setdb1 T A 3: 95,347,085 D195V probably damaging Het
Slc12a8 A G 16: 33,625,086 E450G probably benign Het
Slc1a7 G A 4: 108,012,276 V513M probably benign Het
Slc25a12 A T 2: 71,275,189 V667E unknown Het
Slc39a3 T C 10: 81,031,277 T212A probably benign Het
Slc45a1 C T 4: 150,638,309 G373S possibly damaging Het
Snx33 A G 9: 56,925,340 F482L possibly damaging Het
Srebf2 C T 15: 82,178,765 R468C probably damaging Het
Stk32a C T 18: 43,315,101 Q382* probably null Het
Sun3 C A 11: 9,023,376 S167I probably damaging Het
Sycp2 A G 2: 178,355,062 L1116P probably damaging Het
Thbs4 T G 13: 92,752,447 T913P probably damaging Het
Trav8d-1 C T 14: 52,778,827 Q57* probably null Het
Trio C G 15: 27,749,866 V2250L probably benign Het
Unc119b A T 5: 115,127,043 I204N probably damaging Het
Usp4 A G 9: 108,378,471 E576G probably damaging Het
Uvssa T A 5: 33,409,504 L515Q probably damaging Het
Xkr8 T C 4: 132,732,338 Y43C probably damaging Het
Xpo6 G A 7: 126,169,254 L94F probably benign Het
Zbtb11 A G 16: 56,006,020 K804R probably damaging Het
Zfp616 A G 11: 74,084,068 R479G probably benign Het
Zfp661 T C 2: 127,577,924 T99A probably benign Het
Zfp839 A T 12: 110,855,098 Q115H probably damaging Het
Zyg11a C T 4: 108,189,568 probably null Het
Other mutations in Snx11
AlleleSourceChrCoordTypePredicted EffectPPH Score
R0918:Snx11 UTSW 11 96,769,278 (GRCm38) missense possibly damaging 0.92
R1282:Snx11 UTSW 11 96,773,161 (GRCm38) missense probably damaging 1.00
R1586:Snx11 UTSW 11 96,770,696 (GRCm38) missense probably benign 0.14
R4838:Snx11 UTSW 11 96,774,458 (GRCm38) missense possibly damaging 0.47
R5308:Snx11 UTSW 11 96,770,709 (GRCm38) missense probably damaging 1.00
R6753:Snx11 UTSW 11 96,769,906 (GRCm38) intron probably benign
R6898:Snx11 UTSW 11 96,769,062 (GRCm38) missense probably benign 0.23
R7092:Snx11 UTSW 11 96,772,839 (GRCm38) missense probably damaging 1.00
R7266:Snx11 UTSW 11 96,773,159 (GRCm38) missense probably damaging 1.00
R7836:Snx11 UTSW 11 96,769,206 (GRCm38) missense possibly damaging 0.89
R8098:Snx11 UTSW 11 96,770,674 (GRCm38) missense probably benign 0.02
R8220:Snx11 UTSW 11 96,771,059 (GRCm38) missense probably damaging 1.00
R8248:Snx11 UTSW 11 96,769,933 (GRCm38) missense unknown
R9524:Snx11 UTSW 11 96,769,197 (GRCm38) missense probably benign 0.05
R9722:Snx11 UTSW 11 96,771,099 (GRCm38) missense probably benign 0.06
Predicted Primers PCR Primer
(F):5'- GCGAGCATTTCTCAAGCTCC -3'
(R):5'- TGTTCCCGACAGAAGATTTACAAG -3'

Sequencing Primer
(F):5'- GAGCATTTCTCAAGCTCCTCAGC -3'
(R):5'- CCCGACAGAAGATTTACAAGAAAGAG -3'
Posted On 2020-01-23