Incidental Mutation 'IGL02646:Snx33'
ID301962
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Snx33
Ensembl Gene ENSMUSG00000032733
Gene Namesorting nexin 33
SynonymsSh3px3, E130307J07Rik
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.067) question?
Stock #IGL02646
Quality Score
Status
Chromosome9
Chromosomal Location56917193-56928371 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 56926759 bp
ZygosityHeterozygous
Amino Acid Change Tyrosine to Histidine at position 9 (Y9H)
Ref Sequence ENSEMBL: ENSMUSP00000060225 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000050916]
Predicted Effect probably damaging
Transcript: ENSMUST00000050916
AA Change: Y9H

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000060225
Gene: ENSMUSG00000032733
AA Change: Y9H

DomainStartEndE-ValueType
SH3 3 60 3.2e-15 SMART
low complexity region 111 122 N/A INTRINSIC
PX 227 336 6.69e-18 SMART
Pfam:BAR_3_WASP_bdg 337 572 1.1e-113 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000213112
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is involved in cytoskeletal reorganization, vesicle trafficking, endocytosis, and mitosis. The encoded protein is essential for the creation of the cleavage furrow during mitosis and for completion of mitosis. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2015]
Allele List at MGI
Other mutations in this stock
Total: 36 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700013G24Rik T A 4: 137,454,790 Y85* probably null Het
Abcg2 A G 6: 58,685,696 I508V probably benign Het
Adgrb2 T C 4: 130,019,282 probably null Het
Api5 T A 2: 94,429,839 H24L possibly damaging Het
Apoh T C 11: 108,412,142 V311A probably benign Het
Atp2a3 C A 11: 72,975,339 H262N probably benign Het
Brca2 G T 5: 150,560,790 V2994L possibly damaging Het
Brd1 A T 15: 88,700,877 V918D probably damaging Het
Calr3 T G 8: 72,443,460 D43A possibly damaging Het
Cdh16 T C 8: 104,622,105 probably null Het
Cep192 T C 18: 67,862,477 S2033P probably damaging Het
Dnah7a G A 1: 53,525,035 T1955M probably damaging Het
Dock10 T A 1: 80,574,123 Y665F probably damaging Het
Dync1i1 A G 6: 5,767,034 D86G probably benign Het
Eri2 T C 7: 119,786,108 D390G possibly damaging Het
Fank1 C T 7: 133,880,029 probably benign Het
Hoxb7 A T 11: 96,286,744 Y6F possibly damaging Het
Hspg2 A C 4: 137,551,848 S3081R possibly damaging Het
Kcnt1 T A 2: 25,900,880 probably benign Het
Kdelc2 A G 9: 53,384,251 D51G probably benign Het
Med13 A G 11: 86,283,386 I1762T probably benign Het
Mia2 A G 12: 59,108,836 D445G probably damaging Het
Olfr1099 T C 2: 86,959,353 Y35C probably damaging Het
Plcg2 A T 8: 117,603,883 I827F possibly damaging Het
Rnls C A 19: 33,138,284 probably benign Het
Scn1a A T 2: 66,299,618 probably null Het
Sec22b T A 3: 97,921,245 V208E possibly damaging Het
Slc8a3 A T 12: 81,315,094 I317N probably damaging Het
Stard9 C A 2: 120,698,992 T1910N probably damaging Het
Tas2r122 T A 6: 132,711,790 I47F probably damaging Het
Tedc1 T G 12: 113,157,301 L118V possibly damaging Het
Tln2 A T 9: 67,255,996 S1090T probably benign Het
Tpcn2 T C 7: 145,258,574 D511G probably benign Het
Usp21 T C 1: 171,283,095 probably benign Het
Vmn2r17 T A 5: 109,453,080 L748Q probably damaging Het
Zp2 T C 7: 120,135,341 D495G possibly damaging Het
Other mutations in Snx33
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02261:Snx33 APN 9 56926578 missense probably benign
IGL03028:Snx33 APN 9 56926451 missense probably benign
R0206:Snx33 UTSW 9 56926224 missense probably damaging 1.00
R0755:Snx33 UTSW 9 56925457 missense possibly damaging 0.84
R1218:Snx33 UTSW 9 56925985 missense probably damaging 1.00
R1523:Snx33 UTSW 9 56926182 missense possibly damaging 0.47
R1627:Snx33 UTSW 9 56925957 missense probably damaging 1.00
R1758:Snx33 UTSW 9 56926698 missense probably benign 0.29
R1856:Snx33 UTSW 9 56926011 missense possibly damaging 0.85
R1885:Snx33 UTSW 9 56925837 missense probably benign 0.42
R2113:Snx33 UTSW 9 56926440 missense probably benign 0.28
R2422:Snx33 UTSW 9 56918538 missense probably benign 0.03
R3789:Snx33 UTSW 9 56918560 missense probably benign 0.00
R3870:Snx33 UTSW 9 56926740 missense probably benign 0.05
R3871:Snx33 UTSW 9 56926740 missense probably benign 0.05
R4734:Snx33 UTSW 9 56925901 missense possibly damaging 0.84
R4884:Snx33 UTSW 9 56926180 missense probably damaging 0.99
R5069:Snx33 UTSW 9 56926191 missense probably damaging 0.97
R5555:Snx33 UTSW 9 56925397 missense probably benign
R6153:Snx33 UTSW 9 56926699 missense possibly damaging 0.74
R7178:Snx33 UTSW 9 56925867 missense probably damaging 1.00
R7179:Snx33 UTSW 9 56925867 missense probably damaging 1.00
R7315:Snx33 UTSW 9 56925867 missense probably damaging 1.00
R7414:Snx33 UTSW 9 56925867 missense probably damaging 1.00
R7593:Snx33 UTSW 9 56926774 missense possibly damaging 0.52
R7607:Snx33 UTSW 9 56926713 missense probably benign
R7632:Snx33 UTSW 9 56926418 missense probably damaging 0.98
Posted On2015-04-16