Incidental Mutation 'R5702:Smim8'
ID 451733
Institutional Source Beutler Lab
Gene Symbol Smim8
Ensembl Gene ENSMUSG00000028295
Gene Name small integral membrane protein 8
Synonyms 1810030N24Rik, 2810406B13Rik
MMRRC Submission 043182-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R5702 (G1)
Quality Score 217
Status Not validated
Chromosome 4
Chromosomal Location 34768664-34778398 bp(-) (GRCm39)
Type of Mutation small deletion (4 aa in frame mutation)
DNA Base Change (assembly) TTTAATGAAGAGCT to TT at 34771261 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000103769 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000029972] [ENSMUST00000108131] [ENSMUST00000108132] [ENSMUST00000108133] [ENSMUST00000108134]
AlphaFold Q9CQQ0
Predicted Effect probably benign
Transcript: ENSMUST00000029972
SMART Domains Protein: ENSMUSP00000029972
Gene: ENSMUSG00000028295

DomainStartEndE-ValueType
Pfam:DUF4500 15 96 8.3e-41 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000108131
SMART Domains Protein: ENSMUSP00000103766
Gene: ENSMUSG00000028295

DomainStartEndE-ValueType
Pfam:DUF4500 10 96 1.1e-43 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000108132
SMART Domains Protein: ENSMUSP00000103767
Gene: ENSMUSG00000028295

DomainStartEndE-ValueType
Pfam:DUF4500 10 96 1.1e-43 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000108133
SMART Domains Protein: ENSMUSP00000103768
Gene: ENSMUSG00000028295

DomainStartEndE-ValueType
Pfam:DUF4500 10 96 1.1e-43 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000108134
SMART Domains Protein: ENSMUSP00000103769
Gene: ENSMUSG00000028295

DomainStartEndE-ValueType
Pfam:DUF4500 10 96 1.1e-43 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000131295
Predicted Effect noncoding transcript
Transcript: ENSMUST00000139922
Predicted Effect noncoding transcript
Transcript: ENSMUST00000147396
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.7%
  • 10x: 97.4%
  • 20x: 95.6%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 41 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcb1a G A 5: 8,787,752 (GRCm39) S1018N probably benign Het
Adat1 G T 8: 112,704,704 (GRCm39) T414K probably benign Het
Ahnak G T 19: 8,979,204 (GRCm39) V163L probably damaging Het
Atf6b T C 17: 34,869,978 (GRCm39) I288T possibly damaging Het
Blm A T 7: 80,108,675 (GRCm39) V1323E probably benign Het
Brap T A 5: 121,803,206 (GRCm39) L118Q probably damaging Het
C1qbp G A 11: 70,869,570 (GRCm39) T171I probably benign Het
Ccdc136 C A 6: 29,412,981 (GRCm39) H455Q probably damaging Het
Chd3 A T 11: 69,252,261 (GRCm39) V47D possibly damaging Het
Cnot10 A C 9: 114,458,078 (GRCm39) F143V probably damaging Het
Cnot8 T C 11: 58,004,873 (GRCm39) S191P possibly damaging Het
Coro2b G A 9: 62,333,859 (GRCm39) T345I probably damaging Het
Dennd1b T C 1: 139,061,413 (GRCm39) I365T probably damaging Het
Dnah11 C A 12: 118,077,642 (GRCm39) A1284S probably benign Het
Dock4 G A 12: 40,787,490 (GRCm39) D802N probably benign Het
Dsg1a T C 18: 20,469,922 (GRCm39) probably null Het
Elp3 C T 14: 65,815,431 (GRCm39) R187Q probably damaging Het
Ercc3 G A 18: 32,387,206 (GRCm39) R473Q probably damaging Het
F5 G A 1: 164,022,116 (GRCm39) W1530* probably null Het
Fmnl1 T C 11: 103,076,491 (GRCm39) I219T probably damaging Het
Gemin4 G A 11: 76,101,663 (GRCm39) R1033C probably benign Het
Gm2381 T A 7: 42,471,820 (GRCm39) I20F probably benign Het
Hmgcll1 A G 9: 75,991,672 (GRCm39) M129V possibly damaging Het
Ltbp3 G T 19: 5,797,849 (GRCm39) R496L probably benign Het
Mettl13 A G 1: 162,373,549 (GRCm39) V234A probably benign Het
Minar1 G A 9: 89,473,208 (GRCm39) A901V probably benign Het
Or1j4 A G 2: 36,740,946 (GRCm39) D296G probably damaging Het
Pde7a A T 3: 19,295,371 (GRCm39) C146* probably null Het
Pla2g4e T A 2: 120,018,992 (GRCm39) N202Y possibly damaging Het
Plk5 G A 10: 80,196,401 (GRCm39) probably null Het
Plscr1l1 G A 9: 92,225,741 (GRCm39) probably null Het
Ptpn7 A G 1: 135,061,582 (GRCm39) T15A probably benign Het
Rrn3 T A 16: 13,631,130 (GRCm39) Y655* probably null Het
Scarb2 C T 5: 92,599,255 (GRCm39) G355D probably damaging Het
Scd2 G A 19: 44,286,502 (GRCm39) A111T possibly damaging Het
Smurf1 T C 5: 144,838,021 (GRCm39) T57A possibly damaging Het
Spire2 C T 8: 124,073,402 (GRCm39) P94S probably benign Het
Tex2 T C 11: 106,435,221 (GRCm39) H237R possibly damaging Het
Vmn2r109 T C 17: 20,774,407 (GRCm39) D316G probably benign Het
Zfp830 T A 11: 82,655,800 (GRCm39) F201L possibly damaging Het
Zic1 A G 9: 91,246,133 (GRCm39) F313S probably damaging Het
Other mutations in Smim8
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00428:Smim8 APN 4 34,769,006 (GRCm39) missense probably benign 0.03
R1959:Smim8 UTSW 4 34,771,316 (GRCm39) missense probably damaging 1.00
R5783:Smim8 UTSW 4 34,771,261 (GRCm39) small deletion probably benign
R5800:Smim8 UTSW 4 34,771,261 (GRCm39) small deletion probably benign
R5818:Smim8 UTSW 4 34,771,261 (GRCm39) small deletion probably benign
R5819:Smim8 UTSW 4 34,771,261 (GRCm39) small deletion probably benign
R5821:Smim8 UTSW 4 34,771,261 (GRCm39) small deletion probably benign
R5821:Smim8 UTSW 4 34,771,259 (GRCm39) small deletion probably benign
R5915:Smim8 UTSW 4 34,769,010 (GRCm39) small deletion probably benign
R8913:Smim8 UTSW 4 34,769,056 (GRCm39) missense possibly damaging 0.50
R9762:Smim8 UTSW 4 34,771,265 (GRCm39) missense probably damaging 0.99
R9775:Smim8 UTSW 4 34,769,068 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- GAGTTTTCCATGTGACAGAGC -3'
(R):5'- TACACAGAGAAACCCTGTCTCG -3'

Sequencing Primer
(F):5'- TTCTAAGACAGGTTATAGCCCCAGG -3'
(R):5'- TTTGAAAACCCAGGCCTC -3'
Posted On 2017-01-03