Incidental Mutation 'IGL03170:Smim6'
ID411799
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Smim6
Ensembl Gene ENSMUSG00000075420
Gene Namesmall integral membrane protein 6
Synonyms
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL03170
Quality Score
Status
Chromosome11
Chromosomal Location115912017-115913920 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to T at 115913488 bp
ZygosityHeterozygous
Amino Acid Change Threonine to Serine at position 34 (T34S)
Ref Sequence ENSEMBL: ENSMUSP00000133699 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000021097] [ENSMUST00000131578] [ENSMUST00000132961] [ENSMUST00000134208] [ENSMUST00000140174]
Predicted Effect probably benign
Transcript: ENSMUST00000021097
SMART Domains Protein: ENSMUSP00000021097
Gene: ENSMUSG00000020752

DomainStartEndE-ValueType
DEXDc 25 230 1.13e-29 SMART
HELICc 274 355 8.68e-22 SMART
Pfam:RecQ_Zn_bind 366 436 1.8e-12 PFAM
low complexity region 472 499 N/A INTRINSIC
PDB:4BK0|B 516 621 2e-51 PDB
Pfam:RecQ5 626 818 3.1e-97 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000131578
SMART Domains Protein: ENSMUSP00000136178
Gene: ENSMUSG00000020752

DomainStartEndE-ValueType
HELICc 1 82 8.68e-22 SMART
Predicted Effect possibly damaging
Transcript: ENSMUST00000132961
AA Change: T34S

PolyPhen 2 Score 0.659 (Sensitivity: 0.86; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000133699
Gene: ENSMUSG00000075420
AA Change: T34S

DomainStartEndE-ValueType
transmembrane domain 25 47 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000134208
SMART Domains Protein: ENSMUSP00000137157
Gene: ENSMUSG00000020752

DomainStartEndE-ValueType
Blast:DEXDc 25 96 4e-34 BLAST
HELICc 160 241 8.68e-22 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000140174
SMART Domains Protein: ENSMUSP00000136506
Gene: ENSMUSG00000020752

DomainStartEndE-ValueType
DEXDc 25 230 1.13e-29 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000144824
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 29 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2310035C23Rik C T 1: 105,735,955 T943I probably damaging Het
Cand2 A G 6: 115,797,900 D1023G probably damaging Het
Cyp2c54 A G 19: 40,072,365 probably null Het
Cyp4f37 C T 17: 32,625,119 probably benign Het
Cyr61 C A 3: 145,649,759 A12S probably benign Het
Entpd2 T C 2: 25,399,481 F325S probably damaging Het
Flnb T C 14: 7,818,261 I37T possibly damaging Het
Gm7030 C T 17: 36,128,713 G125E probably damaging Het
Gm7534 C T 4: 134,193,034 V607I possibly damaging Het
Gtpbp10 A G 5: 5,555,355 V116A probably benign Het
Lrp1b T A 2: 40,697,444 N164I unknown Het
Nle1 T A 11: 82,904,270 T312S probably benign Het
Olfr509 T C 7: 108,646,100 I159V probably benign Het
Pim1 T A 17: 29,491,178 L12Q possibly damaging Het
Plb1 G T 5: 32,284,902 C246F probably damaging Het
Ppp4r4 T C 12: 103,590,774 probably benign Het
Prl6a1 T A 13: 27,315,423 V63D possibly damaging Het
Ptprz1 G A 6: 22,959,767 A88T probably benign Het
Ranbp3l A T 15: 9,000,787 E31V probably damaging Het
Rgs9 G A 11: 109,259,855 T209I probably benign Het
Smg8 A G 11: 87,086,608 V49A probably damaging Het
Snw1 T G 12: 87,472,252 T4P probably benign Het
Sod2 C A 17: 13,008,370 H70Q probably benign Het
Tro A G X: 150,655,560 S34P probably benign Het
Tshr T A 12: 91,537,869 M527K probably damaging Het
Uggt1 A C 1: 36,163,261 V1085G probably damaging Het
Vmn1r21 A G 6: 57,843,862 V199A probably damaging Het
Xkr9 T C 1: 13,700,812 I184T possibly damaging Het
Zfp369 T C 13: 65,294,410 S273P probably damaging Het
Other mutations in Smim6
AlleleSourceChrCoordTypePredicted EffectPPH Score
PIT4466001:Smim6 UTSW 11 115913545 missense probably benign 0.00
R4860:Smim6 UTSW 11 115913504 missense probably benign 0.02
R4860:Smim6 UTSW 11 115913504 missense probably benign 0.02
R6010:Smim6 UTSW 11 115913393 missense probably damaging 1.00
Posted On2016-08-02