Incidental Mutation 'IGL02119:Smim17'
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ID280534
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Smim17
Ensembl Gene ENSMUSG00000093536
Gene Namesmall integral membrane protein 17
Synonyms
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.155) question?
Stock #IGL02119
Quality Score
Status
Chromosome7
Chromosomal Location6398715-6432093 bp(+) (GRCm38)
Type of Mutationsplice site
DNA Base Change (assembly) T to C at 6427161 bp
ZygosityHeterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000130202 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000054781] [ENSMUST00000160218] [ENSMUST00000161855]
Predicted Effect probably benign
Transcript: ENSMUST00000054781
SMART Domains Protein: ENSMUSP00000050428
Gene: ENSMUSG00000045929

DomainStartEndE-ValueType
low complexity region 57 74 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000160218
SMART Domains Protein: ENSMUSP00000126877
Gene: ENSMUSG00000093536

DomainStartEndE-ValueType
low complexity region 57 72 N/A INTRINSIC
transmembrane domain 85 107 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000161855
SMART Domains Protein: ENSMUSP00000130202
Gene: ENSMUSG00000093536

DomainStartEndE-ValueType
low complexity region 57 72 N/A INTRINSIC
transmembrane domain 85 107 N/A INTRINSIC
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 42 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcb11 T A 2: 69,328,000 probably null Het
Acsbg2 T C 17: 56,868,459 probably benign Het
Ap3b1 T C 13: 94,462,403 V495A probably benign Het
Astn1 T C 1: 158,511,154 probably benign Het
Bora A G 14: 99,053,538 D94G probably damaging Het
Bpifb9b G T 2: 154,313,624 V348L possibly damaging Het
Cd160 A T 3: 96,808,823 I17N possibly damaging Het
Cyp2d11 A C 15: 82,390,064 I372S probably damaging Het
Dennd2c T A 3: 103,137,243 V380D probably damaging Het
Fat4 C T 3: 38,982,939 A3580V probably benign Het
Filip1 A G 9: 79,818,266 S1024P probably benign Het
Flnc G A 6: 29,447,512 E1105K probably damaging Het
Gbp4 T A 5: 105,121,042 E415V probably benign Het
Gdap1l1 T A 2: 163,453,668 F224Y probably damaging Het
Gm11146 A T 16: 77,588,610 probably null Het
Gsn G T 2: 35,302,495 R485L probably damaging Het
Havcr1 A G 11: 46,775,493 Y261C probably damaging Het
Maneal A T 4: 124,859,167 I229N probably benign Het
Med24 A T 11: 98,728,835 M27K probably benign Het
Nipsnap2 T A 5: 129,747,992 probably benign Het
Noa1 T A 5: 77,307,579 Q430L probably benign Het
Olfr1099 T C 2: 86,959,183 I92V probably benign Het
Olfr365 C A 2: 37,201,269 S9R possibly damaging Het
Olfr74 T A 2: 87,974,410 N85I probably benign Het
Olfr834 T C 9: 18,988,612 V208A probably benign Het
Pde3a T A 6: 141,459,803 S460R probably damaging Het
Pdzd8 T C 19: 59,300,490 Q826R possibly damaging Het
Pfkfb4 C T 9: 109,025,110 R351W probably damaging Het
Pikfyve T A 1: 65,272,571 I1989N probably damaging Het
Poldip2 T A 11: 78,517,908 F200I probably damaging Het
Prodh2 T C 7: 30,506,504 V208A probably damaging Het
Ranbp10 T C 8: 105,827,003 D89G probably damaging Het
Rbm33 T A 5: 28,339,017 S90R probably damaging Het
Slc44a4 A C 17: 34,928,661 D441A probably damaging Het
Slc4a10 A T 2: 62,228,670 I174F probably damaging Het
Tln1 T C 4: 43,546,760 E872G probably damaging Het
Tmem214 G A 5: 30,872,746 A296T probably benign Het
Top2b T C 14: 16,406,733 L625S probably damaging Het
Vmn2r59 A G 7: 42,046,169 V273A probably benign Het
Vmn2r9 G A 5: 108,843,636 L620F probably damaging Het
Whrn T G 4: 63,435,487 K348Q probably damaging Het
Zc3h14 T C 12: 98,763,895 V399A probably benign Het
Other mutations in Smim17
AlleleSourceChrCoordTypePredicted EffectPPH Score
R1715:Smim17 UTSW 7 6429326 missense probably damaging 0.99
R3888:Smim17 UTSW 7 6429280 missense probably damaging 1.00
R4762:Smim17 UTSW 7 6429322 missense probably damaging 0.99
R5325:Smim17 UTSW 7 6429322 missense probably damaging 0.99
R5758:Smim17 UTSW 7 6424789 missense possibly damaging 0.95
R7952:Smim17 UTSW 7 6424850 missense possibly damaging 0.54
Posted On2015-04-16