Incidental Mutation 'R4248:Snx8'
ID 320491
Institutional Source Beutler Lab
Gene Symbol Snx8
Ensembl Gene ENSMUSG00000029560
Gene Name sorting nexin 8
Synonyms B130023O14Rik
MMRRC Submission 041064-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R4248 (G1)
Quality Score 211
Status Validated
Chromosome 5
Chromosomal Location 140326054-140375017 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 140341800 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Proline at position 121 (L121P)
Ref Sequence ENSEMBL: ENSMUSP00000142866 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000031539] [ENSMUST00000196020] [ENSMUST00000196130] [ENSMUST00000196566] [ENSMUST00000197880] [ENSMUST00000198945]
AlphaFold Q8CFD4
Predicted Effect probably damaging
Transcript: ENSMUST00000031539
AA Change: L147P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000031539
Gene: ENSMUSG00000029560
AA Change: L147P

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 damaging
Transcript: ENSMUST00000196020
AA Change: L25P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000142491
Gene: ENSMUSG00000029560
AA Change: L25P

DomainStartEndE-ValueType
Pfam:PX 1 51 3.7e-9 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000196130
AA Change: L99P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000142390
Gene: ENSMUSG00000029560
AA Change: L99P

DomainStartEndE-ValueType
PX 12 125 9.7e-21 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000196566
AA Change: L99P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000142556
Gene: ENSMUSG00000029560
AA Change: L99P

DomainStartEndE-ValueType
PX 12 125 9.7e-21 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000197880
SMART Domains Protein: ENSMUSP00000142394
Gene: ENSMUSG00000029560

DomainStartEndE-ValueType
Pfam:PX 15 88 1.1e-11 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000198945
AA Change: L121P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000142866
Gene: ENSMUSG00000029560
AA Change: L121P

DomainStartEndE-ValueType
PX 34 147 9.7e-21 SMART
Meta Mutation Damage Score 0.9745 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.7%
  • 10x: 97.4%
  • 20x: 95.5%
Validation Efficiency 100% (32/32)
Allele List at MGI
Other mutations in this stock
Total: 26 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2700062C07Rik A G 18: 24,606,013 (GRCm39) N36S possibly damaging Het
Alox12b G A 11: 69,054,431 (GRCm39) V250I probably benign Het
Armt1 T C 10: 4,389,687 (GRCm39) F115L probably benign Het
Cdh9 T C 15: 16,850,474 (GRCm39) F536L probably benign Het
Fbxo25 T C 8: 13,989,617 (GRCm39) S355P probably damaging Het
Fhod3 A G 18: 25,123,123 (GRCm39) K271R probably null Het
Gapt C A 13: 110,490,289 (GRCm39) V125F probably damaging Het
Gucd1 A T 10: 75,345,662 (GRCm39) V131E probably damaging Het
Hecw2 C T 1: 53,871,804 (GRCm39) V1381M probably damaging Het
Hivep2 A G 10: 14,007,299 (GRCm39) E1299G probably damaging Het
Hnf4g A G 3: 3,717,909 (GRCm39) D342G possibly damaging Het
Kmt2b C T 7: 30,273,489 (GRCm39) R2349H probably benign Het
Lama5 C T 2: 179,822,220 (GRCm39) R2896Q possibly damaging Het
Moxd2 A C 6: 40,855,933 (GRCm39) I552S probably damaging Het
Nkx1-2 TGGTGAGAGGGGGCCGCCTTGGCCCCG TG 7: 132,201,209 (GRCm39) probably null Het
Onecut3 A G 10: 80,349,963 (GRCm39) T486A possibly damaging Het
Or8g36 A G 9: 39,422,899 (GRCm39) V39A probably benign Het
Pik3cb T C 9: 98,983,229 (GRCm39) probably null Het
Pirb A G 7: 3,722,297 (GRCm39) F182S probably damaging Het
Rev1 C T 1: 38,146,729 (GRCm39) R34H possibly damaging Het
Satl1 A G X: 111,316,033 (GRCm39) S141P probably benign Het
Setx GTGGCT GT 2: 29,044,073 (GRCm39) 1814 probably null Het
Tep1 T C 14: 51,100,351 (GRCm39) H389R possibly damaging Het
Tnfrsf1b G A 4: 144,942,535 (GRCm39) A416V probably benign Het
Ust A T 10: 8,393,982 (GRCm39) L61Q possibly damaging Het
Vmn2r101 A T 17: 19,809,376 (GRCm39) K168N probably damaging Het
Other mutations in Snx8
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01338:Snx8 APN 5 140,343,851 (GRCm39) missense probably damaging 1.00
IGL01394:Snx8 APN 5 140,337,934 (GRCm39) missense probably benign 0.00
Dickens UTSW 5 140,343,905 (GRCm39) missense probably damaging 1.00
R4247:Snx8 UTSW 5 140,341,800 (GRCm39) missense probably damaging 1.00
R4249:Snx8 UTSW 5 140,341,800 (GRCm39) missense probably damaging 1.00
R4250:Snx8 UTSW 5 140,341,800 (GRCm39) missense probably damaging 1.00
R4670:Snx8 UTSW 5 140,341,713 (GRCm39) critical splice donor site probably null
R4982:Snx8 UTSW 5 140,337,989 (GRCm39) missense probably benign 0.06
R5339:Snx8 UTSW 5 140,343,905 (GRCm39) missense probably damaging 1.00
R5341:Snx8 UTSW 5 140,343,886 (GRCm39) missense probably damaging 1.00
R5755:Snx8 UTSW 5 140,338,796 (GRCm39) missense possibly damaging 0.48
R5945:Snx8 UTSW 5 140,339,235 (GRCm39) missense probably benign
R7214:Snx8 UTSW 5 140,346,008 (GRCm39) missense possibly damaging 0.83
R7527:Snx8 UTSW 5 140,341,827 (GRCm39) missense probably benign 0.32
R7851:Snx8 UTSW 5 140,343,914 (GRCm39) missense probably damaging 1.00
R7960:Snx8 UTSW 5 140,343,848 (GRCm39) missense probably benign 0.00
R8444:Snx8 UTSW 5 140,343,929 (GRCm39) missense possibly damaging 0.69
Predicted Primers PCR Primer
(F):5'- ATGATGCCCAGCCTGTGAAC -3'
(R):5'- ATAGACCTGGCCATTCCTCC -3'

Sequencing Primer
(F):5'- CTCTAGTATGAGCTCAAACTGGG -3'
(R):5'- TCCACCCATGCATGTTTGG -3'
Posted On 2015-06-12