Incidental Mutation 'IGL03182:Snx31'
ID 412301
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Snx31
Ensembl Gene ENSMUSG00000013611
Gene Name sorting nexin 31
Synonyms 4631426E05Rik
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # IGL03182
Quality Score
Status
Chromosome 15
Chromosomal Location 36504208-36555718 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to T at 36525833 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamine to Lysine at position 289 (Q289K)
Ref Sequence ENSEMBL: ENSMUSP00000124063 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000013755] [ENSMUST00000161202]
AlphaFold Q6P8Y7
Predicted Effect probably benign
Transcript: ENSMUST00000013755
AA Change: Q289K

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000013755
Gene: ENSMUSG00000013611
AA Change: Q289K

DomainStartEndE-ValueType
PX 1 105 5.44e-9 SMART
PDB:4GXB|A 112 382 1e-64 PDB
Blast:B41 115 324 1e-49 BLAST
Predicted Effect probably benign
Transcript: ENSMUST00000161202
AA Change: Q289K

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000124063
Gene: ENSMUSG00000013611
AA Change: Q289K

DomainStartEndE-ValueType
PX 1 105 5.44e-9 SMART
PDB:4GXB|A 112 382 1e-64 PDB
Blast:B41 115 324 1e-49 BLAST
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 42 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Agbl3 A T 6: 34,780,435 (GRCm39) K469N probably damaging Het
Aldh2 A G 5: 121,718,787 (GRCm39) probably benign Het
Ankfy1 T C 11: 72,619,580 (GRCm39) probably benign Het
Ankhd1 C T 18: 36,711,827 (GRCm39) T209I probably benign Het
Aox3 G A 1: 58,205,046 (GRCm39) V754I probably benign Het
Arfgef3 C T 10: 18,476,292 (GRCm39) R1509H probably damaging Het
Ccdc157 A G 11: 4,101,832 (GRCm39) S30P probably damaging Het
Cept1 T A 3: 106,411,866 (GRCm39) E369D probably damaging Het
Clcnka T C 4: 141,121,798 (GRCm39) Y236C probably damaging Het
Ddx42 A T 11: 106,138,353 (GRCm39) L717F probably benign Het
Dnah11 A T 12: 117,994,026 (GRCm39) I2340N probably damaging Het
Dsel T C 1: 111,787,868 (GRCm39) E889G probably damaging Het
Fasn T C 11: 120,703,552 (GRCm39) Y1560C probably damaging Het
Fermt2 A T 14: 45,699,225 (GRCm39) M623K possibly damaging Het
Gm21970 T A 16: 91,190,726 (GRCm39) S110T possibly damaging Het
Gm826 T A 2: 160,169,035 (GRCm39) R91S unknown Het
Lrrn3 A G 12: 41,504,020 (GRCm39) L99S probably damaging Het
Megf8 T A 7: 25,046,773 (GRCm39) M1552K possibly damaging Het
Mgll G T 6: 88,800,173 (GRCm39) V191F probably damaging Het
Nkapd1 T C 9: 50,523,698 (GRCm39) N50S possibly damaging Het
Nol8 C A 13: 49,817,557 (GRCm39) H778N probably damaging Het
Or1e26 T A 11: 73,480,268 (GRCm39) T99S probably benign Het
Or5b116 A C 19: 13,422,807 (GRCm39) T144P possibly damaging Het
Or8g30 A T 9: 39,230,277 (GRCm39) M211K probably benign Het
Or8k40 A T 2: 86,584,366 (GRCm39) S239T probably damaging Het
Pfkfb3 A T 2: 11,506,474 (GRCm39) I13N probably damaging Het
Pim1 T A 17: 29,710,740 (GRCm39) D114E possibly damaging Het
Pkd1 T C 17: 24,792,792 (GRCm39) L1493P probably damaging Het
Plb1 A T 5: 32,502,259 (GRCm39) probably benign Het
Plch1 A T 3: 63,610,015 (GRCm39) Y872* probably null Het
Rictor A G 15: 6,819,079 (GRCm39) D1434G probably benign Het
Rptor G A 11: 119,615,971 (GRCm39) G162R probably damaging Het
Serping1 T C 2: 84,596,162 (GRCm39) D424G probably damaging Het
Slit2 A G 5: 48,377,395 (GRCm39) I475V possibly damaging Het
Tbc1d13 G A 2: 30,037,379 (GRCm39) A254T probably damaging Het
Tek T C 4: 94,740,002 (GRCm39) I750T probably damaging Het
Tet2 A T 3: 133,177,159 (GRCm39) L1296* probably null Het
Tmem145 T A 7: 25,014,304 (GRCm39) F459I probably damaging Het
Uba5 A T 9: 103,931,328 (GRCm39) V247D possibly damaging Het
Vmn1r83 T C 7: 12,055,617 (GRCm39) M147V probably benign Het
Vwde T C 6: 13,187,138 (GRCm39) D783G probably damaging Het
Zfp609 A G 9: 65,608,287 (GRCm39) S1198P probably benign Het
Other mutations in Snx31
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00094:Snx31 APN 15 36,545,761 (GRCm39) critical splice acceptor site probably null
IGL01627:Snx31 APN 15 36,517,818 (GRCm39) missense probably damaging 1.00
IGL02514:Snx31 APN 15 36,525,728 (GRCm39) missense probably damaging 1.00
IGL03069:Snx31 APN 15 36,525,749 (GRCm39) nonsense probably null
R0755:Snx31 UTSW 15 36,534,576 (GRCm39) missense probably damaging 0.99
R1005:Snx31 UTSW 15 36,517,837 (GRCm39) splice site probably benign
R1463:Snx31 UTSW 15 36,539,444 (GRCm39) missense probably null 1.00
R1513:Snx31 UTSW 15 36,545,745 (GRCm39) missense probably damaging 0.99
R2030:Snx31 UTSW 15 36,525,848 (GRCm39) missense probably benign 0.31
R3404:Snx31 UTSW 15 36,525,799 (GRCm39) missense probably benign 0.00
R3720:Snx31 UTSW 15 36,523,704 (GRCm39) critical splice acceptor site probably null
R4152:Snx31 UTSW 15 36,525,785 (GRCm39) missense probably benign
R4474:Snx31 UTSW 15 36,546,256 (GRCm39) intron probably benign
R4729:Snx31 UTSW 15 36,523,698 (GRCm39) missense possibly damaging 0.92
R4998:Snx31 UTSW 15 36,539,513 (GRCm39) missense probably damaging 0.96
R5010:Snx31 UTSW 15 36,555,469 (GRCm39) missense probably damaging 1.00
R5375:Snx31 UTSW 15 36,525,730 (GRCm39) missense probably damaging 0.99
R5893:Snx31 UTSW 15 36,523,601 (GRCm39) missense probably damaging 0.98
R5970:Snx31 UTSW 15 36,523,634 (GRCm39) nonsense probably null
R6211:Snx31 UTSW 15 36,547,030 (GRCm39) missense probably damaging 0.98
R7198:Snx31 UTSW 15 36,555,455 (GRCm39) missense probably benign 0.04
R7293:Snx31 UTSW 15 36,523,596 (GRCm39) missense probably damaging 0.97
R7329:Snx31 UTSW 15 36,555,621 (GRCm39) missense probably benign 0.00
R7741:Snx31 UTSW 15 36,523,587 (GRCm39) critical splice donor site probably null
R8057:Snx31 UTSW 15 36,523,606 (GRCm39) missense probably damaging 0.98
R8791:Snx31 UTSW 15 36,537,678 (GRCm39) missense probably benign 0.01
R8806:Snx31 UTSW 15 36,537,698 (GRCm39) missense probably damaging 1.00
R9349:Snx31 UTSW 15 36,555,430 (GRCm39) missense probably damaging 1.00
R9655:Snx31 UTSW 15 36,534,582 (GRCm39) missense probably damaging 1.00
Posted On 2016-08-02