Incidental Mutation 'IGL03291:Smim7'
ID 415894
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Smim7
Ensembl Gene ENSMUSG00000044600
Gene Name small integral membrane protein 7
Synonyms 9130011J15Rik
Accession Numbers
Essential gene? Probably non essential (E-score: 0.080) question?
Stock # IGL03291
Quality Score
Status
Chromosome 8
Chromosomal Location 73319042-73324892 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 73323838 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Phenylalanine to Leucine at position 19 (F19L)
Ref Sequence ENSEMBL: ENSMUSP00000059943 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000034244] [ENSMUST00000058733] [ENSMUST00000167290] [ENSMUST00000211914] [ENSMUST00000212763]
AlphaFold Q5RKS2
Predicted Effect probably benign
Transcript: ENSMUST00000034244
SMART Domains Protein: ENSMUSP00000034244
Gene: ENSMUSG00000031791

DomainStartEndE-ValueType
transmembrane domain 15 37 N/A INTRINSIC
Pfam:TRIC 40 231 5.5e-84 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000058733
AA Change: F19L

PolyPhen 2 Score 0.942 (Sensitivity: 0.80; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000059943
Gene: ENSMUSG00000044600
AA Change: F19L

DomainStartEndE-ValueType
transmembrane domain 39 61 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000163745
Predicted Effect possibly damaging
Transcript: ENSMUST00000167290
AA Change: F31L

PolyPhen 2 Score 0.897 (Sensitivity: 0.82; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000127441
Gene: ENSMUSG00000044600
AA Change: F31L

DomainStartEndE-ValueType
transmembrane domain 5 23 N/A INTRINSIC
transmembrane domain 51 73 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000211914
Predicted Effect probably benign
Transcript: ENSMUST00000212763
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 29 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ano1 T A 7: 144,175,412 (GRCm39) E502V probably damaging Het
Atic T C 1: 71,610,081 (GRCm39) V364A probably benign Het
Cfap44 A T 16: 44,227,674 (GRCm39) H125L possibly damaging Het
Ctnna2 T A 6: 76,950,695 (GRCm39) E227V probably damaging Het
Ctsf A G 19: 4,909,662 (GRCm39) I378V probably benign Het
Eya1 C T 1: 14,254,572 (GRCm39) probably null Het
Fat2 C T 11: 55,153,421 (GRCm39) R3597H probably benign Het
Gdpd5 T C 7: 99,109,328 (GRCm39) probably benign Het
Glcci1 T A 6: 8,579,678 (GRCm39) I293K probably damaging Het
Gm16503 T A 4: 147,625,535 (GRCm39) Y10N unknown Het
Gm5930 A T 14: 44,568,905 (GRCm39) I239N possibly damaging Het
Grm5 T C 7: 87,780,004 (GRCm39) L1148P probably damaging Het
Kmt2e T A 5: 23,704,289 (GRCm39) L1161I probably damaging Het
Megf9 C T 4: 70,406,387 (GRCm39) V260I probably benign Het
Mme T A 3: 63,253,525 (GRCm39) D456E probably benign Het
Mup8 T A 4: 60,221,950 (GRCm39) E61V probably damaging Het
Olfml1 A G 7: 107,189,436 (GRCm39) D167G probably damaging Het
Or51ah3 T A 7: 103,210,119 (GRCm39) M145K possibly damaging Het
Piezo2 T C 18: 63,154,379 (GRCm39) K2467E probably damaging Het
Plscr1 T A 9: 92,148,923 (GRCm39) F254L probably damaging Het
Prol1 A T 5: 88,476,379 (GRCm39) K256N unknown Het
Rapgef4 A T 2: 72,026,047 (GRCm39) L339F probably damaging Het
Slc27a2 T C 2: 126,406,670 (GRCm39) I118T probably benign Het
Svil T A 18: 5,056,150 (GRCm39) L428* probably null Het
Tcof1 T C 18: 60,962,133 (GRCm39) T699A possibly damaging Het
Thsd7b T A 1: 129,688,092 (GRCm39) S668T possibly damaging Het
Tmprss7 T C 16: 45,501,111 (GRCm39) D230G probably benign Het
Tyw1 A G 5: 130,328,834 (GRCm39) D540G probably damaging Het
Zfp763 A G 17: 33,238,860 (GRCm39) V95A probably damaging Het
Other mutations in Smim7
AlleleSourceChrCoordTypePredicted EffectPPH Score
PIT4810001:Smim7 UTSW 8 73,324,857 (GRCm39) missense probably damaging 1.00
R1736:Smim7 UTSW 8 73,324,849 (GRCm39) missense probably damaging 1.00
R5564:Smim7 UTSW 8 73,324,867 (GRCm39) missense probably damaging 0.99
R9135:Smim7 UTSW 8 73,324,757 (GRCm39) missense probably damaging 1.00
Posted On 2016-08-02