Incidental Mutation 'IGL02251:Smim10l1'
ID286406
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Smim10l1
Ensembl Gene ENSMUSG00000072704
Gene Namesmall integral membrane protein 10 like 1
Synonyms2700089E24Rik
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.135) question?
Stock #IGL02251
Quality Score
Status
Chromosome6
Chromosomal Location133104909-133110899 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) G to T at 133105508 bp
ZygosityHeterozygous
Amino Acid Change Arginine to Leucine at position 6 (R6L)
Ref Sequence ENSEMBL: ENSMUSP00000139534 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000100864] [ENSMUST00000186945] [ENSMUST00000187237] [ENSMUST00000191462]
Predicted Effect possibly damaging
Transcript: ENSMUST00000100864
AA Change: R32L

PolyPhen 2 Score 0.711 (Sensitivity: 0.86; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000098428
Gene: ENSMUSG00000072704
AA Change: R32L

DomainStartEndE-ValueType
Pfam:DUF4560 4 67 1.5e-42 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000186945
AA Change: R6L

PolyPhen 2 Score 0.990 (Sensitivity: 0.72; Specificity: 0.97)
Predicted Effect probably damaging
Transcript: ENSMUST00000187237
AA Change: R32L

PolyPhen 2 Score 0.966 (Sensitivity: 0.77; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000139832
Gene: ENSMUSG00000072704
AA Change: R32L

DomainStartEndE-ValueType
Pfam:DUF4560 4 68 1.9e-37 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000191462
AA Change: R32L

PolyPhen 2 Score 0.711 (Sensitivity: 0.86; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000139452
Gene: ENSMUSG00000072704
AA Change: R32L

DomainStartEndE-ValueType
Pfam:DUF4560 4 66 4.4e-40 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000204588
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 41 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcc6 A G 7: 45,977,416 C1406R probably damaging Het
Acp2 T A 2: 91,208,333 probably null Het
Antxr2 A C 5: 97,977,595 probably null Het
Arhgef11 C T 3: 87,683,547 R32C probably damaging Het
Armc6 A T 8: 70,225,220 L153* probably null Het
Btnl2 G T 17: 34,363,239 G260* probably null Het
Ccnf A G 17: 24,226,539 S551P probably benign Het
Cdh19 A G 1: 110,954,652 S37P probably benign Het
Cntnap3 T A 13: 64,762,036 T752S probably damaging Het
Crispld1 A G 1: 17,728,840 M62V probably benign Het
Ddr1 G A 17: 35,683,480 A801V probably damaging Het
Dner G T 1: 84,384,026 Q621K probably damaging Het
Dph6 A G 2: 114,535,523 probably null Het
Dpp3 T G 19: 4,918,315 H243P probably benign Het
Eif3j2 T A 18: 43,477,366 K127N probably damaging Het
Esrp1 G A 4: 11,361,202 R315C probably damaging Het
Fam35a T C 14: 34,268,278 R224G probably benign Het
Gm973 A C 1: 59,582,423 H574P probably benign Het
Gprasp1 G A X: 135,800,539 V494I probably benign Het
Hbb-bh1 T A 7: 103,842,810 K66* probably null Het
Hoxb9 T A 11: 96,274,825 M240K probably damaging Het
Irf2 T C 8: 46,807,753 probably null Het
Lgi4 A G 7: 31,067,263 probably null Het
Mylk3 C T 8: 85,355,176 V328M probably benign Het
Nf2 T C 11: 4,848,873 E38G probably null Het
Olfr1286 A C 2: 111,420,312 L213R probably damaging Het
Olfr606 A T 7: 103,451,771 K145* probably null Het
Pdpk1 A G 17: 24,079,638 F346L probably damaging Het
Prex1 T C 2: 166,577,886 Y1120C probably damaging Het
Rab3gap1 A G 1: 127,937,500 T742A probably benign Het
Scai A T 2: 39,099,417 D401E probably benign Het
Scd1 T C 19: 44,398,094 H298R probably damaging Het
Slc45a1 A G 4: 150,638,719 probably benign Het
Spag5 T G 11: 78,320,034 F921C probably damaging Het
Sun1 T C 5: 139,241,431 S667P probably damaging Het
Tas2r124 A G 6: 132,755,561 I278V probably benign Het
Thbs1 G A 2: 118,113,518 D206N probably benign Het
Trim37 T A 11: 87,167,430 probably benign Het
Vcp T C 4: 42,988,728 T249A possibly damaging Het
Vmn2r103 A G 17: 19,793,969 N341S possibly damaging Het
Zmat3 A G 3: 32,345,583 probably benign Het
Other mutations in Smim10l1
AlleleSourceChrCoordTypePredicted EffectPPH Score
R2135:Smim10l1 UTSW 6 133105526 missense probably damaging 1.00
R5696:Smim10l1 UTSW 6 133105526 missense probably damaging 1.00
R6661:Smim10l1 UTSW 6 133105550 missense possibly damaging 0.57
R7219:Smim10l1 UTSW 6 133107932 missense unknown
Posted On2015-04-16