Incidental Mutation 'R7214:Snx8'
ID 561292
Institutional Source Beutler Lab
Gene Symbol Snx8
Ensembl Gene ENSMUSG00000029560
Gene Name sorting nexin 8
Synonyms B130023O14Rik
MMRRC Submission 045286-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R7214 (G1)
Quality Score 225.009
Status Not validated
Chromosome 5
Chromosomal Location 140326054-140375017 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 140346008 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamic Acid to Glycine at position 75 (E75G)
Ref Sequence ENSEMBL: ENSMUSP00000031539 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000031539] [ENSMUST00000196020] [ENSMUST00000196130] [ENSMUST00000196566] [ENSMUST00000197880] [ENSMUST00000198945]
AlphaFold Q8CFD4
Predicted Effect possibly damaging
Transcript: ENSMUST00000031539
AA Change: E75G

PolyPhen 2 Score 0.830 (Sensitivity: 0.84; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000031539
Gene: ENSMUSG00000029560
AA Change: E75G

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

DomainStartEndE-ValueType
Pfam:PX 1 51 3.7e-9 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000196130
AA Change: E27G

PolyPhen 2 Score 0.830 (Sensitivity: 0.84; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000142390
Gene: ENSMUSG00000029560
AA Change: E27G

DomainStartEndE-ValueType
PX 12 125 9.7e-21 SMART
Predicted Effect possibly damaging
Transcript: ENSMUST00000196566
AA Change: E27G

PolyPhen 2 Score 0.830 (Sensitivity: 0.84; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000142556
Gene: ENSMUSG00000029560
AA Change: E27G

DomainStartEndE-ValueType
PX 12 125 9.7e-21 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000197880
AA Change: E27G

PolyPhen 2 Score 0.977 (Sensitivity: 0.76; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000142394
Gene: ENSMUSG00000029560
AA Change: E27G

DomainStartEndE-ValueType
Pfam:PX 15 88 1.1e-11 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000198945
AA Change: E49G

PolyPhen 2 Score 0.696 (Sensitivity: 0.86; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000142866
Gene: ENSMUSG00000029560
AA Change: E49G

DomainStartEndE-ValueType
PX 34 147 9.7e-21 SMART
Meta Mutation Damage Score 0.2025 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.8%
  • 20x: 99.3%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 94 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adgrg5 C T 8: 95,660,646 (GRCm39) T95I Het
Arap2 C T 5: 62,906,681 (GRCm39) V113I probably benign Het
Atraid C T 5: 31,209,590 (GRCm39) Q85* probably null Het
Bcdin3d T C 15: 99,368,344 (GRCm39) D285G probably benign Het
Bmal1 T A 7: 112,898,610 (GRCm39) I346K probably benign Het
Carmil3 T C 14: 55,736,069 (GRCm39) W604R probably damaging Het
Ccl6 C T 11: 83,480,582 (GRCm39) probably null Het
Cct4 C T 11: 22,940,616 (GRCm39) probably benign Het
Cd2ap C T 17: 43,156,285 (GRCm39) R84Q possibly damaging Het
Cdt1 T A 8: 123,295,012 (GRCm39) probably null Het
Cln3 C T 7: 126,181,942 (GRCm39) G40D probably damaging Het
Crlf3 T C 11: 79,955,216 (GRCm39) S47G possibly damaging Het
Csrp3 T C 7: 48,480,385 (GRCm39) K193R probably benign Het
Cxcl3 A C 5: 90,934,219 (GRCm39) E33A probably damaging Het
Cyp11b1 T C 15: 74,708,708 (GRCm39) D362G probably benign Het
Dnah2 T C 11: 69,321,935 (GRCm39) D3795G probably damaging Het
Dnah3 G A 7: 119,521,965 (GRCm39) A4076V probably damaging Het
Dnaja3 T A 16: 4,519,046 (GRCm39) I380N possibly damaging Het
Dock10 T A 1: 80,546,246 (GRCm39) H785L probably benign Het
Dop1b T G 16: 93,607,023 (GRCm39) F2226V possibly damaging Het
Dscaml1 A T 9: 45,581,437 (GRCm39) I419F probably benign Het
Dyrk4 T A 6: 126,862,200 (GRCm39) I431F probably benign Het
Endog C T 2: 30,062,902 (GRCm39) R181C probably damaging Het
Fam90a1a A T 8: 22,453,641 (GRCm39) Y332F probably benign Het
Fastkd3 T C 13: 68,737,499 (GRCm39) I588T probably benign Het
Galnt9 G A 5: 110,737,694 (GRCm39) V217I probably benign Het
Gm973 A T 1: 59,601,888 (GRCm39) R501* probably null Het
Gnptab C T 10: 88,215,019 (GRCm39) probably benign Het
Gpn1 T C 5: 31,660,761 (GRCm39) F184S probably damaging Het
Imp3 G T 9: 56,845,007 (GRCm39) V73L probably benign Het
Ipo11 T C 13: 107,032,365 (GRCm39) D259G probably null Het
Jag1 T C 2: 136,948,802 (GRCm39) S142G probably benign Het
Klhl5 A T 5: 65,289,098 (GRCm39) E120V probably benign Het
Lct C A 1: 128,228,197 (GRCm39) V1099L probably benign Het
Lrba G C 3: 86,235,633 (GRCm39) W912C probably damaging Het
Lss C T 10: 76,383,305 (GRCm39) T535I probably damaging Het
Mcts2 T C 2: 152,529,297 (GRCm39) I36T probably benign Het
Meikin T A 11: 54,302,738 (GRCm39) N383K probably benign Het
Myo1g T C 11: 6,461,055 (GRCm39) Y663C probably damaging Het
Nadk2 T A 15: 9,108,342 (GRCm39) M419K probably damaging Het
Nbeal1 G C 1: 60,276,310 (GRCm39) V684L probably benign Het
Nfat5 T C 8: 108,020,515 (GRCm39) S20P probably damaging Het
Nlrp1a C T 11: 71,014,119 (GRCm39) C377Y probably damaging Het
Nlrp9a T C 7: 26,250,463 (GRCm39) V76A probably damaging Het
Nrap C A 19: 56,366,567 (GRCm39) A341S probably benign Het
Ntng2 T C 2: 29,117,732 (GRCm39) S239G probably damaging Het
Nup188 T A 2: 30,197,566 (GRCm39) C207S possibly damaging Het
Or10a4 T C 7: 106,697,619 (GRCm39) *316R probably null Het
Or10ak7 T A 4: 118,791,146 (GRCm39) I300F possibly damaging Het
Or1j17 T C 2: 36,578,107 (GRCm39) I31T probably benign Het
Or2ag1 T C 7: 106,473,474 (GRCm39) probably benign Het
Or5b118 T A 19: 13,448,337 (GRCm39) M1K probably null Het
Or8c13 A C 9: 38,091,318 (GRCm39) V267G probably damaging Het
Or8k31-ps1 C T 2: 86,356,150 (GRCm39) V124I probably damaging Het
Pcdhgb2 C A 18: 37,823,159 (GRCm39) A50E probably damaging Het
Pgap1 A T 1: 54,582,220 (GRCm39) M209K possibly damaging Het
Plbd1 T A 6: 136,589,829 (GRCm39) D463V probably damaging Het
Plcg2 T A 8: 118,310,288 (GRCm39) I380N probably damaging Het
Pnpt1 T C 11: 29,087,285 (GRCm39) W184R probably damaging Het
Pptc7 G A 5: 122,451,840 (GRCm39) V202I probably benign Het
Prpf6 C T 2: 181,282,389 (GRCm39) A510V probably damaging Het
Prr5l T C 2: 101,559,777 (GRCm39) Y235C probably benign Het
Ptprk T C 10: 28,450,905 (GRCm39) V1022A probably benign Het
Rbl2 T C 8: 91,810,057 (GRCm39) probably null Het
Rmnd1 T C 10: 4,360,753 (GRCm39) K348E probably benign Het
Rsf1 CGGCGGC CGGCGGCGGGGGCGGC 7: 97,229,136 (GRCm39) probably benign Het
Sacs T A 14: 61,429,241 (GRCm39) N433K probably benign Het
Scyl1 T C 19: 5,810,057 (GRCm39) T590A probably benign Het
Sdhd A G 9: 50,508,533 (GRCm39) V111A possibly damaging Het
Sec24b G T 3: 129,827,509 (GRCm39) P330Q probably benign Het
Serpinb6d C T 13: 33,848,128 (GRCm39) P31S probably damaging Het
Slc26a9 A T 1: 131,687,211 (GRCm39) R457W probably damaging Het
Slc5a8 G A 10: 88,755,364 (GRCm39) M490I probably benign Het
Slx4 A G 16: 3,806,844 (GRCm39) I533T probably benign Het
Slx4ip T A 2: 136,888,650 (GRCm39) F110L probably benign Het
Smchd1 T C 17: 71,652,359 (GRCm39) R2000G probably benign Het
Stab2 C A 10: 86,735,705 (GRCm39) C1292F probably damaging Het
Swt1 A T 1: 151,270,364 (GRCm39) M617K possibly damaging Het
Thoc2l A G 5: 104,670,229 (GRCm39) T1584A probably benign Het
Tiam2 T A 17: 3,568,687 (GRCm39) I1611N possibly damaging Het
Tmem63b T G 17: 45,972,748 (GRCm39) N682T probably benign Het
Trio C T 15: 27,871,273 (GRCm39) V674M probably damaging Het
Trpc3 G A 3: 36,704,286 (GRCm39) T557M possibly damaging Het
Vac14 T G 8: 111,397,674 (GRCm39) L463R probably damaging Het
Vmn2r43 C T 7: 8,256,379 (GRCm39) probably null Het
Wdr49 A T 3: 75,265,751 (GRCm39) Y232N possibly damaging Het
Wdr90 T C 17: 26,064,367 (GRCm39) M1835V probably benign Het
Xpc T C 6: 91,469,320 (GRCm39) E809G probably damaging Het
Zfhx3 A T 8: 109,675,493 (GRCm39) Q2181L probably damaging Het
Zfp442 T C 2: 150,251,201 (GRCm39) T234A probably benign Het
Zfp764 A T 7: 127,004,450 (GRCm39) M227K probably benign Het
Zfp764l1 A G 7: 126,990,695 (GRCm39) S431P probably benign Het
Zfp957 A G 14: 79,450,750 (GRCm39) S350P unknown Het
Zscan29 T A 2: 120,999,761 (GRCm39) K147* probably null 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
R4248: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
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'- GAGTCAGAAGCAGCTCTAGG -3'
(R):5'- CTGAGCAGCTGTCTTTACCTGC -3'

Sequencing Primer
(F):5'- CCAGCAGCTATCCAGAAGTTG -3'
(R):5'- AGCTGTCTTTACCTGCCATCTAC -3'
Posted On 2019-06-26