Incidental Mutation 'R8348:Snf8'
ID 660448
Institutional Source Beutler Lab
Gene Symbol Snf8
Ensembl Gene ENSMUSG00000006058
Gene Name SNF8, ESCRT-II complex subunit, homolog (S. cerevisiae)
Synonyms D11Moh34
MMRRC Submission 067732-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R8348 (G1)
Quality Score 225.009
Status Validated
Chromosome 11
Chromosomal Location 95925711-95938256 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 95925877 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Lysine to Arginine at position 13 (K13R)
Ref Sequence ENSEMBL: ENSMUSP00000103328 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000006217] [ENSMUST00000103156] [ENSMUST00000103157] [ENSMUST00000107700]
AlphaFold Q9CZ28
Predicted Effect probably benign
Transcript: ENSMUST00000006217
AA Change: K13R

PolyPhen 2 Score 0.109 (Sensitivity: 0.93; Specificity: 0.86)
SMART Domains Protein: ENSMUSP00000006217
Gene: ENSMUSG00000006058
AA Change: K13R

DomainStartEndE-ValueType
Pfam:EAP30 6 225 7.6e-66 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000103156
SMART Domains Protein: ENSMUSP00000099445
Gene: ENSMUSG00000014351

DomainStartEndE-ValueType
signal peptide 1 21 N/A INTRINSIC
GLUCA 44 70 5.96e-9 SMART
low complexity region 113 124 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000103157
SMART Domains Protein: ENSMUSP00000099446
Gene: ENSMUSG00000014351

DomainStartEndE-ValueType
signal peptide 1 21 N/A INTRINSIC
GLUCA 44 70 5.96e-9 SMART
low complexity region 113 124 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000107700
AA Change: K13R

PolyPhen 2 Score 0.437 (Sensitivity: 0.89; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000103328
Gene: ENSMUSG00000006058
AA Change: K13R

DomainStartEndE-ValueType
Pfam:EAP30 6 230 1.2e-57 PFAM
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.8%
  • 20x: 99.4%
Validation Efficiency 100% (59/59)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a component of the endosomal sorting complex required for transport II (ESCRT-II), which regulates the movement of ubiquitinylated transmembrane proteins to the lysosome for degradation. This complex also interacts with the RNA polymerase II elongation factor (ELL) to overcome the repressive effects of ELL on RNA polymerase II activity. Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Nov 2015]
Allele List at MGI
Other mutations in this stock
Total: 59 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1600014C10Rik A G 7: 37,894,384 (GRCm39) Y139C possibly damaging Het
A430033K04Rik A G 5: 138,634,514 (GRCm39) D43G probably damaging Het
Actn3 C A 19: 4,915,361 (GRCm39) V464L possibly damaging Het
Adamts15 C T 9: 30,813,846 (GRCm39) R773Q probably benign Het
Angpt2 G A 8: 18,791,135 (GRCm39) R54* probably null Het
Arhgef28 G T 13: 98,190,375 (GRCm39) P195T possibly damaging Het
Axdnd1 A T 1: 156,245,854 (GRCm39) D107E probably benign Het
Cdh23 C T 10: 60,167,507 (GRCm39) V1828M probably benign Het
Cep95 A G 11: 106,704,593 (GRCm39) T440A possibly damaging Het
Ctdp1 G A 18: 80,493,325 (GRCm39) A390V probably benign Het
Desi2 T A 1: 178,083,906 (GRCm39) probably benign Het
Dnah2 A T 11: 69,320,273 (GRCm39) M3932K possibly damaging Het
Dnah8 A T 17: 30,955,121 (GRCm39) Q2050L probably damaging Het
Etnppl T A 3: 130,423,141 (GRCm39) M274K probably benign Het
Farp2 G T 1: 93,504,614 (GRCm39) probably null Het
Fbxo46 G A 7: 18,870,469 (GRCm39) G363R probably damaging Het
Fiz1 A G 7: 5,015,909 (GRCm39) V27A probably benign Het
Fndc3b T A 3: 27,494,144 (GRCm39) M994L probably benign Het
G3bp1 T G 11: 55,389,457 (GRCm39) D384E possibly damaging Het
Galnt2 C T 8: 125,061,025 (GRCm39) R306* probably null Het
Gle1 T C 2: 29,832,556 (GRCm39) Y304H possibly damaging Het
Gm3415 G A 5: 146,493,407 (GRCm39) R84H probably benign Het
Gm7694 A C 1: 170,129,209 (GRCm39) S107A possibly damaging Het
Gpc6 A G 14: 117,673,232 (GRCm39) D163G probably damaging Het
Gtpbp6 G A 5: 110,251,892 (GRCm39) H514Y possibly damaging Het
Hdgfl2 A G 17: 56,406,370 (GRCm39) E595G possibly damaging Het
Hoxc11 G A 15: 102,863,186 (GRCm39) G76S possibly damaging Het
Hoxc4 T C 15: 102,943,440 (GRCm39) C98R possibly damaging Het
Hydin A T 8: 111,329,878 (GRCm39) I4871F possibly damaging Het
Ifnar1 A G 16: 91,292,187 (GRCm39) D176G probably benign Het
Inafm1 A G 7: 16,007,055 (GRCm39) I54T probably damaging Het
Inpp5b G A 4: 124,678,967 (GRCm39) G458D probably damaging Het
Irs2 A T 8: 11,054,974 (GRCm39) S1153T probably damaging Het
Kcnj15 A G 16: 95,096,609 (GRCm39) Y77C probably damaging Het
Klhl35 C A 7: 99,121,062 (GRCm39) D10E probably damaging Het
Lef1 A T 3: 130,906,461 (GRCm39) M1L probably benign Het
Lima1 T C 15: 99,678,753 (GRCm39) T403A probably benign Het
Magi3 T A 3: 103,958,531 (GRCm39) N518I probably damaging Het
Mcoln3 T C 3: 145,836,974 (GRCm39) C269R probably damaging Het
Mis18a A T 16: 90,523,919 (GRCm39) L81* probably null Het
Mug2 A T 6: 122,049,192 (GRCm39) K903* probably null Het
Nhsl3 G A 4: 129,117,699 (GRCm39) R322C probably damaging Het
Pex6 T C 17: 47,034,039 (GRCm39) S656P probably benign Het
Pgr C A 9: 8,922,602 (GRCm39) Q591K probably benign Het
Phactr3 T C 2: 177,897,935 (GRCm39) S50P probably benign Het
Plscr4 C T 9: 92,372,843 (GRCm39) R322* probably null Het
Sipa1l1 T A 12: 82,443,045 (GRCm39) N778K probably benign Het
Slc22a6 C G 19: 8,599,169 (GRCm39) R267G probably damaging Het
Slc5a7 A G 17: 54,583,655 (GRCm39) V545A possibly damaging Het
St3gal1 G A 15: 66,985,511 (GRCm39) R48C probably damaging Het
Tacc2 A C 7: 130,225,019 (GRCm39) K568T possibly damaging Het
Tnxb C A 17: 34,929,102 (GRCm39) T2715K possibly damaging Het
Vegfb T C 19: 6,962,856 (GRCm39) I140V probably benign Het
Vmn2r89 A C 14: 51,692,548 (GRCm39) D117A possibly damaging Het
Vps13c C T 9: 67,786,385 (GRCm39) T284I possibly damaging Het
Wnk1 T C 6: 119,906,960 (GRCm39) probably null Het
Wscd2 T A 5: 113,710,371 (GRCm39) H298Q possibly damaging Het
Zfp69 A T 4: 120,787,834 (GRCm39) C494S probably damaging Het
Zfp715 T C 7: 42,949,361 (GRCm39) T200A possibly damaging Het
Other mutations in Snf8
AlleleSourceChrCoordTypePredicted EffectPPH Score
R0355:Snf8 UTSW 11 95,930,125 (GRCm39) missense probably benign 0.05
R0606:Snf8 UTSW 11 95,925,799 (GRCm39) start gained probably benign
R5149:Snf8 UTSW 11 95,934,286 (GRCm39) missense probably benign 0.01
R5719:Snf8 UTSW 11 95,932,551 (GRCm39) missense probably damaging 1.00
R9013:Snf8 UTSW 11 95,930,126 (GRCm39) missense probably benign 0.16
Predicted Primers PCR Primer
(F):5'- TGAATATCGAGACTTCCGGC -3'
(R):5'- GTTGTGACAGTGATCGCCAAG -3'

Sequencing Primer
(F):5'- TTCCGGCGCGCTCAAATG -3'
(R):5'- GTCTTATGCAGTGACTTAACCAGCAG -3'
Posted On 2021-01-18