Incidental Mutation 'IGL02251:Smim10l1'
ID 286406
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Smim10l1
Ensembl Gene ENSMUSG00000072704
Gene Name small integral membrane protein 10 like 1
Synonyms 2700089E24Rik
Accession Numbers
Essential gene? Probably non essential (E-score: 0.090) question?
Stock # IGL02251
Quality Score
Status
Chromosome 6
Chromosomal Location 133082202-133087862 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to T at 133082471 bp (GRCm39)
Zygosity Heterozygous
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]
AlphaFold A0A087WNQ7
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: 45,626,840 (GRCm39) C1406R probably damaging Het
Acp2 T A 2: 91,038,678 (GRCm39) probably null Het
Antxr2 A C 5: 98,125,454 (GRCm39) probably null Het
Arhgef11 C T 3: 87,590,854 (GRCm39) R32C probably damaging Het
Armc6 A T 8: 70,677,870 (GRCm39) L153* probably null Het
Btnl2 G T 17: 34,582,213 (GRCm39) G260* probably null Het
Ccnf A G 17: 24,445,513 (GRCm39) S551P probably benign Het
Cdh19 A G 1: 110,882,382 (GRCm39) S37P probably benign Het
Cntnap3 T A 13: 64,909,850 (GRCm39) T752S probably damaging Het
Crispld1 A G 1: 17,799,064 (GRCm39) M62V probably benign Het
Ddr1 G A 17: 35,994,372 (GRCm39) A801V probably damaging Het
Dner G T 1: 84,361,747 (GRCm39) Q621K probably damaging Het
Dph6 A G 2: 114,366,004 (GRCm39) probably null Het
Dpp3 T G 19: 4,968,343 (GRCm39) H243P probably benign Het
Eif3j2 T A 18: 43,610,431 (GRCm39) K127N probably damaging Het
Esrp1 G A 4: 11,361,202 (GRCm39) R315C probably damaging Het
Gm973 A C 1: 59,621,582 (GRCm39) H574P probably benign Het
Gprasp1 G A X: 134,701,288 (GRCm39) V494I probably benign Het
Hbb-bh1 T A 7: 103,492,017 (GRCm39) K66* probably null Het
Hoxb9 T A 11: 96,165,651 (GRCm39) M240K probably damaging Het
Irf2 T C 8: 47,260,788 (GRCm39) probably null Het
Lgi4 A G 7: 30,766,688 (GRCm39) probably null Het
Mylk3 C T 8: 86,081,805 (GRCm39) V328M probably benign Het
Nf2 T C 11: 4,798,873 (GRCm39) E38G probably null Het
Or4k40 A C 2: 111,250,657 (GRCm39) L213R probably damaging Het
Or51l14 A T 7: 103,100,978 (GRCm39) K145* probably null Het
Pdpk1 A G 17: 24,298,612 (GRCm39) F346L probably damaging Het
Prex1 T C 2: 166,419,806 (GRCm39) Y1120C probably damaging Het
Rab3gap1 A G 1: 127,865,237 (GRCm39) T742A probably benign Het
Scai A T 2: 38,989,429 (GRCm39) D401E probably benign Het
Scd1 T C 19: 44,386,533 (GRCm39) H298R probably damaging Het
Shld2 T C 14: 33,990,235 (GRCm39) R224G probably benign Het
Slc45a1 A G 4: 150,723,176 (GRCm39) probably benign Het
Spag5 T G 11: 78,210,860 (GRCm39) F921C probably damaging Het
Sun1 T C 5: 139,227,186 (GRCm39) S667P probably damaging Het
Tas2r124 A G 6: 132,732,524 (GRCm39) I278V probably benign Het
Thbs1 G A 2: 117,943,999 (GRCm39) D206N probably benign Het
Trim37 T A 11: 87,058,256 (GRCm39) probably benign Het
Vcp T C 4: 42,988,728 (GRCm39) T249A possibly damaging Het
Vmn2r103 A G 17: 20,014,231 (GRCm39) N341S possibly damaging Het
Zmat3 A G 3: 32,399,732 (GRCm39) probably benign Het
Other mutations in Smim10l1
AlleleSourceChrCoordTypePredicted EffectPPH Score
BB002:Smim10l1 UTSW 6 133,082,545 (GRCm39) missense probably damaging 1.00
BB012:Smim10l1 UTSW 6 133,082,545 (GRCm39) missense probably damaging 1.00
R2135:Smim10l1 UTSW 6 133,082,489 (GRCm39) missense probably damaging 1.00
R5696:Smim10l1 UTSW 6 133,082,489 (GRCm39) missense probably damaging 1.00
R6661:Smim10l1 UTSW 6 133,082,513 (GRCm39) missense possibly damaging 0.57
R7219:Smim10l1 UTSW 6 133,084,895 (GRCm39) missense unknown
R7925:Smim10l1 UTSW 6 133,082,545 (GRCm39) missense probably damaging 1.00
R8790:Smim10l1 UTSW 6 133,084,848 (GRCm39) missense unknown
Posted On 2015-04-16