Incidental Mutation 'IGL03291:Smim7'
ID415894
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Smim7
Ensembl Gene ENSMUSG00000044600
Gene Namesmall integral membrane protein 7
Synonyms
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.108) question?
Stock #IGL03291
Quality Score
Status
Chromosome8
Chromosomal Location72565188-72571088 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to T at 72569994 bp
ZygosityHeterozygous
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]
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: 144,621,675 E502V probably damaging Het
Atic T C 1: 71,570,922 V364A probably benign Het
Cfap44 A T 16: 44,407,311 H125L possibly damaging Het
Ctnna2 T A 6: 76,973,712 E227V probably damaging Het
Ctsf A G 19: 4,859,634 I378V probably benign Het
Eya1 C T 1: 14,184,348 probably null Het
Fat2 C T 11: 55,262,595 R3597H probably benign Het
Gdpd5 T C 7: 99,460,121 probably benign Het
Glcci1 T A 6: 8,579,678 I293K probably damaging Het
Gm16503 T A 4: 147,541,078 Y10N unknown Het
Gm5930 A T 14: 44,331,448 I239N possibly damaging Het
Grm5 T C 7: 88,130,796 L1148P probably damaging Het
Kmt2e T A 5: 23,499,291 L1161I probably damaging Het
Megf9 C T 4: 70,488,150 V260I probably benign Het
Mme T A 3: 63,346,104 D456E probably benign Het
Mup8 T A 4: 60,221,950 E61V probably damaging Het
Olfml1 A G 7: 107,590,229 D167G probably damaging Het
Olfr615 T A 7: 103,560,912 M145K possibly damaging Het
Piezo2 T C 18: 63,021,308 K2467E probably damaging Het
Plscr1 T A 9: 92,266,870 F254L probably damaging Het
Prol1 A T 5: 88,328,520 K256N unknown Het
Rapgef4 A T 2: 72,195,703 L339F probably damaging Het
Slc27a2 T C 2: 126,564,750 I118T probably benign Het
Svil T A 18: 5,056,150 L428* probably null Het
Tcof1 T C 18: 60,829,061 T699A possibly damaging Het
Thsd7b T A 1: 129,760,355 S668T possibly damaging Het
Tmprss7 T C 16: 45,680,748 D230G probably benign Het
Tyw1 A G 5: 130,299,993 D540G probably damaging Het
Zfp763 A G 17: 33,019,886 V95A probably damaging Het
Other mutations in Smim7
AlleleSourceChrCoordTypePredicted EffectPPH Score
PIT4810001:Smim7 UTSW 8 72571013 missense probably damaging 1.00
R1736:Smim7 UTSW 8 72571005 missense probably damaging 1.00
R5564:Smim7 UTSW 8 72571023 missense probably damaging 0.99
Posted On2016-08-02