Incidental Mutation 'R6661:Smim10l1'
ID 526843
Institutional Source Beutler Lab
Gene Symbol Smim10l1
Ensembl Gene ENSMUSG00000072704
Gene Name small integral membrane protein 10 like 1
Synonyms 2700089E24Rik
MMRRC Submission 044781-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.090) question?
Stock # R6661 (G1)
Quality Score 169.009
Status Validated
Chromosome 6
Chromosomal Location 133082202-133087862 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 133082513 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Methionine to Lysine at position 46 (M46K)
Ref Sequence ENSEMBL: ENSMUSP00000139452 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000100864] [ENSMUST00000186945] [ENSMUST00000187237] [ENSMUST00000191462]
AlphaFold A0A087WNQ7
Predicted Effect probably benign
Transcript: ENSMUST00000100864
AA Change: M46K

PolyPhen 2 Score 0.044 (Sensitivity: 0.94; Specificity: 0.83)
SMART Domains Protein: ENSMUSP00000098428
Gene: ENSMUSG00000072704
AA Change: M46K

DomainStartEndE-ValueType
Pfam:DUF4560 4 67 1.5e-42 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000186945
AA Change: M20K

PolyPhen 2 Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)
Predicted Effect probably benign
Transcript: ENSMUST00000187237
AA Change: M46K

PolyPhen 2 Score 0.389 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000139832
Gene: ENSMUSG00000072704
AA Change: M46K

DomainStartEndE-ValueType
Pfam:DUF4560 4 68 1.9e-37 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000191462
AA Change: M46K

PolyPhen 2 Score 0.572 (Sensitivity: 0.88; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000139452
Gene: ENSMUSG00000072704
AA Change: M46K

DomainStartEndE-ValueType
Pfam:DUF4560 4 66 4.4e-40 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000204588
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.5%
  • 10x: 97.8%
  • 20x: 93.8%
Validation Efficiency 93% (38/41)
Allele List at MGI
Other mutations in this stock
Total: 41 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Amy2a1 T C 3: 113,325,363 (GRCm39) Y77C probably damaging Het
Ankrd9 C A 12: 110,944,202 (GRCm39) probably benign Het
Arhgap28 C A 17: 68,152,746 (GRCm39) W675L probably damaging Het
Arhgap44 A G 11: 64,900,834 (GRCm39) S595P probably damaging Het
Brd10 A T 19: 29,700,864 (GRCm39) H741Q possibly damaging Het
Cacna1d C A 14: 29,811,832 (GRCm39) D1273Y probably damaging Het
Ccr4 T C 9: 114,325,031 (GRCm39) probably benign Het
Celsr1 A G 15: 85,803,135 (GRCm39) V2468A probably damaging Het
Chd2 T C 7: 73,140,230 (GRCm39) E666G possibly damaging Het
Ctnnd1 C A 2: 84,439,986 (GRCm39) V775L probably damaging Het
Cux2 C A 5: 122,007,360 (GRCm39) R767L probably benign Het
Decr2 A G 17: 26,302,561 (GRCm39) L217S possibly damaging Het
Dennd4c T A 4: 86,717,626 (GRCm39) M541K possibly damaging Het
Dnah7a T C 1: 53,662,609 (GRCm39) R651G probably benign Het
Fbrsl1 A T 5: 110,525,963 (GRCm39) F80I probably damaging Het
Fmnl2 C A 2: 52,998,297 (GRCm39) P554Q probably damaging Het
Gapvd1 C T 2: 34,618,450 (GRCm39) D308N probably damaging Het
Gatb A G 3: 85,559,726 (GRCm39) probably null Het
Jcad G A 18: 4,675,256 (GRCm39) G1006D probably damaging Het
Krt1c A G 15: 101,724,398 (GRCm39) Y289H probably damaging Het
Lrrc52 A G 1: 167,293,922 (GRCm39) F121S probably damaging Het
Lrrc63 G A 14: 75,362,633 (GRCm39) T299I unknown Het
Magi1 T C 6: 93,920,289 (GRCm39) N109S probably benign Het
Mbd4 C A 6: 115,826,116 (GRCm39) E271* probably null Het
Meis2 T A 2: 115,694,751 (GRCm39) D457V probably damaging Het
Mroh8 A G 2: 157,067,547 (GRCm39) V604A probably benign Het
Nedd4 T A 9: 72,593,377 (GRCm39) V150E probably damaging Het
Nes A G 3: 87,884,243 (GRCm39) E790G probably damaging Het
Or8h8 T C 2: 86,753,492 (GRCm39) N128S probably benign Het
Pik3c2a T C 7: 115,967,993 (GRCm39) I834V possibly damaging Het
Plxnb1 T C 9: 108,933,367 (GRCm39) C666R possibly damaging Het
Prg2 T C 2: 84,813,620 (GRCm39) probably null Het
Selenbp2 A G 3: 94,609,821 (GRCm39) D257G probably damaging Het
Slf1 T C 13: 77,191,964 (GRCm39) R957G probably damaging Het
Sptbn5 T C 2: 119,902,856 (GRCm39) Y50C possibly damaging Het
Tcea1 A G 1: 4,928,652 (GRCm39) probably benign Het
Tex14 A G 11: 87,385,842 (GRCm39) E234G probably damaging Het
Tmbim4 T C 10: 120,060,556 (GRCm39) V181A probably benign Het
Trappc9 A G 15: 72,461,993 (GRCm39) S1091P possibly damaging Het
Txnrd3 T A 6: 89,631,134 (GRCm39) C143* probably null Het
Ushbp1 C T 8: 71,843,305 (GRCm39) C314Y unknown Het
Other mutations in Smim10l1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02251:Smim10l1 APN 6 133,082,471 (GRCm39) missense probably damaging 0.99
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
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
Predicted Primers PCR Primer
(F):5'- TTTAAAGGGACAGCGGCAC -3'
(R):5'- AAGATTGCACGTTCTTCTCGC -3'

Sequencing Primer
(F):5'- TCATCTGGCTCGGGAACTG -3'
(R):5'- CTCGCGCTTCTTGAAGGTGC -3'
Posted On 2018-07-23