Incidental Mutation 'IGL01397:Snx30'
ID79511
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: 0.245) question?
Stock #IGL01397
Quality Score
Status
Chromosome4
Chromosomal Location59805840-59904737 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 59894526 bp
ZygosityHeterozygous
Amino Acid Change Valine to Alanine at position 368 (V368A)
Ref Sequence ENSEMBL: ENSMUSP00000030080 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000030080]
Predicted Effect probably benign
Transcript: ENSMUST00000030080
AA Change: V368A

PolyPhen 2 Score 0.286 (Sensitivity: 0.91; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000030080
Gene: ENSMUSG00000028385
AA Change: V368A

DomainStartEndE-ValueType
low complexity region 59 73 N/A INTRINSIC
PX 88 206 2.21e-18 SMART
Pfam:BAR 264 432 4e-10 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000133015
Predicted Effect noncoding transcript
Transcript: ENSMUST00000143185
Predicted Effect noncoding transcript
Transcript: ENSMUST00000145199
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 47 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acoxl A C 2: 128,034,891 T436P possibly damaging Het
Afap1 T A 5: 35,968,708 V349E probably damaging Het
Arfgef1 C T 1: 10,159,571 V1302I probably benign Het
Atp11a T A 8: 12,812,321 W58R probably damaging Het
Brpf3 A T 17: 28,817,632 K670N probably benign Het
Cd4 G A 6: 124,879,378 T50I probably benign Het
Cenpp T C 13: 49,641,283 D136G probably damaging Het
Cep85 T C 4: 134,156,206 E124G probably damaging Het
Crybb3 T C 5: 113,079,835 E40G probably damaging Het
Dennd2d G T 3: 106,487,049 probably null Het
Dhx34 A G 7: 16,210,543 L582P probably damaging Het
Dst A G 1: 34,257,744 K5738R probably damaging Het
Eif4g1 T A 16: 20,679,675 L328Q probably damaging Het
Eya4 T C 10: 23,139,999 K357E probably benign Het
F8 A G X: 75,379,539 S25P probably benign Het
Fam122b G A X: 53,260,211 T121I probably damaging Het
Fgd2 A G 17: 29,367,975 E293G probably damaging Het
Foxi1 T A 11: 34,207,599 Q142L probably damaging Het
Gfm1 A G 3: 67,443,658 E316G probably benign Het
Glb1l3 C T 9: 26,825,195 D524N probably benign Het
Heatr5a A T 12: 51,894,369 V1366D possibly damaging Het
Idh1 T C 1: 65,168,595 T142A possibly damaging Het
Lamc1 C A 1: 153,251,134 G422V probably damaging Het
Lars A T 18: 42,228,029 H691Q probably damaging Het
Ltbp2 T C 12: 84,790,268 Y1259C probably damaging Het
Muc19 T A 15: 91,894,304 noncoding transcript Het
Nphs1 A G 7: 30,486,664 D1240G probably benign Het
Olfr1134 A T 2: 87,656,905 N5K probably damaging Het
Olfr401 T A 11: 74,121,764 N158K probably damaging Het
Parp14 T C 16: 35,858,728 N290S probably benign Het
Pex5l G A 3: 32,952,597 T541I probably damaging Het
Plch1 A C 3: 63,731,729 probably null Het
Ppp4r3b C T 11: 29,213,594 A722V probably benign Het
Ptges3 T C 10: 128,070,200 S85P probably benign Het
R3hdm2 C T 10: 127,458,850 R201W probably damaging Het
Rcan2 C A 17: 43,836,468 Q66K possibly damaging Het
Skint4 A G 4: 112,120,010 N199S possibly damaging Het
Smc4 A G 3: 69,031,544 T951A probably benign Het
Smg1 A T 7: 118,163,221 probably benign Het
Spata31d1a C T 13: 59,701,738 A859T probably damaging Het
Tg G A 15: 66,696,092 probably benign Het
Tmem132b T C 5: 125,698,728 V422A probably benign Het
Tnxb T C 17: 34,714,673 S2356P probably damaging Het
Vmn1r122 A G 7: 21,133,782 V116A possibly damaging Het
Washc2 A G 6: 116,247,998 D683G probably benign Het
Wdr35 C A 12: 9,008,550 T580K probably benign Het
Wwc2 T A 8: 47,868,276 N601I unknown Het
Other mutations in Snx30
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01124:Snx30 APN 4 59886404 splice site probably benign
IGL03189:Snx30 APN 4 59857452 missense probably benign 0.01
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 On2013-11-05