Incidental Mutation 'IGL01338:Snx8'
ID74697
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Snx8
Ensembl Gene ENSMUSG00000029560
Gene Namesorting nexin 8
SynonymsB130023O14Rik
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL01338
Quality Score
Status
Chromosome5
Chromosomal Location140340299-140389262 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) G to A at 140358096 bp
ZygosityHeterozygous
Amino Acid Change Arginine to Cysteine at position 96 (R96C)
Ref Sequence ENSEMBL: ENSMUSP00000142866 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000031539] [ENSMUST00000196020] [ENSMUST00000196130] [ENSMUST00000196566] [ENSMUST00000197880] [ENSMUST00000198945]
Predicted Effect probably damaging
Transcript: ENSMUST00000031539
AA Change: R122C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000031539
Gene: ENSMUSG00000029560
AA Change: R122C

DomainStartEndE-ValueType
low complexity region 7 30 N/A INTRINSIC
PX 60 173 1.56e-18 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000195982
Predicted Effect probably benign
Transcript: ENSMUST00000196020
SMART Domains Protein: ENSMUSP00000142491
Gene: ENSMUSG00000029560

DomainStartEndE-ValueType
Pfam:PX 1 51 3.7e-9 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000196130
AA Change: R74C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000142390
Gene: ENSMUSG00000029560
AA Change: R74C

DomainStartEndE-ValueType
PX 12 125 9.7e-21 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000196566
AA Change: R74C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000142556
Gene: ENSMUSG00000029560
AA Change: R74C

DomainStartEndE-ValueType
PX 12 125 9.7e-21 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000197880
AA Change: R74C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000142394
Gene: ENSMUSG00000029560
AA Change: R74C

DomainStartEndE-ValueType
Pfam:PX 15 88 1.1e-11 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000198945
AA Change: R96C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000142866
Gene: ENSMUSG00000029560
AA Change: R96C

DomainStartEndE-ValueType
PX 34 147 9.7e-21 SMART
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 48 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1110004E09Rik T C 16: 90,926,048 N266S possibly damaging Het
Adam23 A G 1: 63,551,855 T494A possibly damaging Het
Adamts16 C T 13: 70,836,115 C143Y probably damaging Het
Cacna1i A G 15: 80,348,380 I195V probably damaging Het
Casp7 T C 19: 56,404,464 S17P probably benign Het
Cox6a1 C A 5: 115,345,839 probably benign Het
Cpvl T A 6: 53,974,655 S48C possibly damaging Het
Cyp2b19 G T 7: 26,759,417 M138I probably benign Het
Dennd5a T C 7: 109,919,404 Y510C possibly damaging Het
Derl2 A G 11: 71,010,355 F229S possibly damaging Het
Dlec1 A G 9: 119,120,911 E452G probably damaging Het
Dsc2 T C 18: 20,047,157 K180E probably benign Het
Dus1l G A 11: 120,793,092 R177C possibly damaging Het
Egfr A G 11: 16,863,020 I167V probably damaging Het
Fam219b A T 9: 57,538,022 probably null Het
Fn1 T C 1: 71,626,210 E916G probably damaging Het
Gm2058 C T 7: 39,589,156 noncoding transcript Het
Gpd1 T A 15: 99,718,175 V22E probably damaging Het
Hsf2 T C 10: 57,501,379 F124L probably damaging Het
I0C0044D17Rik A G 4: 98,820,099 probably benign Het
Igfbp3 A T 11: 7,208,478 F262I possibly damaging Het
Klhl18 A G 9: 110,455,433 Y62H probably damaging Het
Lama2 C T 10: 27,188,272 E1238K probably benign Het
Man1b1 A G 2: 25,338,227 K170E probably benign Het
Mcrs1 A T 15: 99,249,501 I39N probably damaging Het
Mug2 T C 6: 122,049,628 probably benign Het
Neu3 C A 7: 99,813,422 G365W probably damaging Het
Nipal3 A C 4: 135,471,883 probably null Het
Nrxn3 A G 12: 89,255,034 I528V possibly damaging Het
Olfr122 A T 17: 37,771,839 H71L possibly damaging Het
Osbpl8 A G 10: 111,267,747 K204R probably damaging Het
Pax8 A G 2: 24,435,919 S318P possibly damaging Het
Pcdh18 T A 3: 49,756,141 N242Y probably damaging Het
Pkd1l2 T A 8: 117,059,520 K649* probably null Het
Ppm1n A T 7: 19,279,254 D257E probably benign Het
Pxdn A G 12: 30,002,797 E811G probably damaging Het
Relb T C 7: 19,616,373 I218V probably benign Het
Rreb1 T C 13: 37,931,034 C790R probably damaging Het
Rtkn2 G T 10: 68,025,519 C258F possibly damaging Het
Scn11a G A 9: 119,784,161 probably benign Het
Syne2 A T 12: 76,060,226 T5649S possibly damaging Het
Tm2d3 T A 7: 65,695,222 C82* probably null Het
Tnpo2 T C 8: 85,040,526 L55P probably damaging Het
Tsc22d2 T C 3: 58,417,415 probably benign Het
Ttll3 T G 6: 113,394,729 V19G probably damaging Het
Ube2r2 A G 4: 41,174,119 I86V probably benign Het
Vps13d G A 4: 145,088,322 T3153I probably damaging Het
Wwp1 A G 4: 19,627,636 I753T probably damaging Het
Other mutations in Snx8
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01394:Snx8 APN 5 140352179 missense probably benign 0.00
Dickens UTSW 5 140358150 missense probably damaging 1.00
R4247:Snx8 UTSW 5 140356045 missense probably damaging 1.00
R4248:Snx8 UTSW 5 140356045 missense probably damaging 1.00
R4249:Snx8 UTSW 5 140356045 missense probably damaging 1.00
R4250:Snx8 UTSW 5 140356045 missense probably damaging 1.00
R4670:Snx8 UTSW 5 140355958 critical splice donor site probably null
R4982:Snx8 UTSW 5 140352234 missense probably benign 0.06
R5339:Snx8 UTSW 5 140358150 missense probably damaging 1.00
R5341:Snx8 UTSW 5 140358131 missense probably damaging 1.00
R5755:Snx8 UTSW 5 140353041 missense possibly damaging 0.48
R5945:Snx8 UTSW 5 140353480 missense probably benign
R7214:Snx8 UTSW 5 140360253 missense possibly damaging 0.83
R7527:Snx8 UTSW 5 140356072 missense probably benign 0.32
Posted On2013-10-07