Incidental Mutation 'IGL03189:Snx30'
ID412580
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Snx30
Ensembl Gene ENSMUSG00000028385
Gene Namesorting nexin family member 30
Synonyms
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.219) question?
Stock #IGL03189
Quality Score
Status
Chromosome4
Chromosomal Location59805840-59904737 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 59857452 bp
ZygosityHeterozygous
Amino Acid Change Isoleucine to Threonine at position 55 (I55T)
Ref Sequence ENSEMBL: ENSMUSP00000030080 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000030080]
Predicted Effect probably benign
Transcript: ENSMUST00000030080
AA Change: I55T

PolyPhen 2 Score 0.007 (Sensitivity: 0.96; Specificity: 0.75)
SMART Domains Protein: ENSMUSP00000030080
Gene: ENSMUSG00000028385
AA Change: I55T

DomainStartEndE-ValueType
low complexity region 59 73 N/A INTRINSIC
PX 88 206 2.21e-18 SMART
Pfam:BAR 264 432 4e-10 PFAM
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 50 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930412O13Rik A G 2: 9,883,823 probably benign Het
Abcb1b A G 5: 8,845,814 T916A probably benign Het
Adam22 A T 5: 8,111,897 Y50* probably null Het
Adprhl2 T C 4: 126,317,294 probably benign Het
Ahnak G A 19: 9,011,239 V3296M possibly damaging Het
Bfar A G 16: 13,687,501 D125G possibly damaging Het
Bmp3 A T 5: 98,872,720 Q334L probably benign Het
Camsap2 A T 1: 136,281,662 D697E probably damaging Het
Car11 A G 7: 45,702,455 T103A probably damaging Het
Cecr2 T A 6: 120,762,430 S1373T probably benign Het
Cenpm A G 15: 82,234,433 V160A possibly damaging Het
Chl1 A T 6: 103,683,207 I365F possibly damaging Het
Col20a1 C T 2: 181,009,407 Q1089* probably null Het
Csf1r A T 18: 61,105,986 T13S probably benign Het
Fam13a T C 6: 58,956,858 E249G probably damaging Het
Fgd6 G A 10: 94,044,456 V391I probably benign Het
Fhdc1 G A 3: 84,455,061 probably benign Het
Fn3krp T C 11: 121,429,630 I267T probably damaging Het
Fras1 A T 5: 96,743,071 I2820F probably benign Het
Fyb2 A G 4: 105,015,742 I771V probably damaging Het
Glis1 A G 4: 107,615,051 Y275C probably damaging Het
Hdgf A G 3: 87,913,428 T62A possibly damaging Het
Hsd17b3 C T 13: 64,063,087 probably null Het
Iqgap1 T A 7: 80,713,842 Y1655F probably benign Het
Izumo1 A G 7: 45,625,164 D181G probably damaging Het
Lrp2 T C 2: 69,438,478 probably benign Het
Mark1 T C 1: 184,919,693 N95S probably damaging Het
Mbd5 A G 2: 49,257,751 K658E probably damaging Het
Mcm6 C T 1: 128,344,302 D453N probably damaging Het
Mfsd14a T C 3: 116,641,855 D187G probably benign Het
Mrpl19 G T 6: 81,961,993 S276* probably null Het
Ncoa2 G A 1: 13,190,136 T105M probably damaging Het
Nop14 A G 5: 34,650,628 probably benign Het
Olfr1018 A G 2: 85,823,558 T196A probably benign Het
Olfr1152 G A 2: 87,868,215 A75T possibly damaging Het
Olfr170 T C 16: 19,606,591 T26A probably benign Het
Otud7b G A 3: 96,155,478 S678N probably benign Het
Pcdhb6 G A 18: 37,336,152 V25M probably damaging Het
Prpf39 G T 12: 65,043,302 G5* probably null Het
Serpinb9d T C 13: 33,202,912 V321A probably damaging Het
Sh2b1 A G 7: 126,468,530 S613P possibly damaging Het
Spata13 T C 14: 60,691,614 I207T possibly damaging Het
Suco T C 1: 161,857,337 probably benign Het
Svs2 A G 2: 164,237,112 S292P possibly damaging Het
Tcam1 A G 11: 106,285,386 I313V probably benign Het
Tmem45a A T 16: 56,811,573 Y227* probably null Het
Tnfsf15 A G 4: 63,730,052 probably benign Het
Ttc26 C T 6: 38,425,231 P553S probably benign Het
Vmn2r4 C A 3: 64,389,168 R732L possibly damaging Het
Wdr7 C T 18: 63,760,601 T602I probably benign Het
Other mutations in Snx30
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01124:Snx30 APN 4 59886404 splice site probably benign
IGL01397:Snx30 APN 4 59894526 missense probably benign 0.29
PIT4366001:Snx30 UTSW 4 59894653 missense probably benign 0.45
R1274:Snx30 UTSW 4 59885133 missense probably benign 0.16
R1415:Snx30 UTSW 4 59879261 missense probably damaging 1.00
R2240:Snx30 UTSW 4 59886515 missense probably damaging 1.00
R4459:Snx30 UTSW 4 59885022 nonsense probably null
R4460:Snx30 UTSW 4 59885022 nonsense probably null
R5279:Snx30 UTSW 4 59885070 missense probably benign
R5394:Snx30 UTSW 4 59879329 missense probably benign
R5754:Snx30 UTSW 4 59868275 missense probably damaging 0.99
R7502:Snx30 UTSW 4 59894567 missense possibly damaging 0.50
R7666:Snx30 UTSW 4 59885047 missense probably benign 0.30
Posted On2016-08-02