Incidental Mutation 'IGL02607:Samm50'
ID300319
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Samm50
Ensembl Gene ENSMUSG00000022437
Gene NameSAMM50 sorting and assembly machinery component
Synonyms1110030L07Rik
Accession Numbers
Is this an essential gene? Probably essential (E-score: 0.966) question?
Stock #IGL02607
Quality Score
Status
Chromosome15
Chromosomal Location84192241-84217267 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to T at 84207838 bp
ZygosityHeterozygous
Amino Acid Change Tyrosine to Phenylalanine at position 338 (Y338F)
Ref Sequence ENSEMBL: ENSMUSP00000023071 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000023071]
Predicted Effect probably benign
Transcript: ENSMUST00000023071
AA Change: Y338F

PolyPhen 2 Score 0.085 (Sensitivity: 0.93; Specificity: 0.85)
SMART Domains Protein: ENSMUSP00000023071
Gene: ENSMUSG00000022437
AA Change: Y338F

DomainStartEndE-ValueType
low complexity region 24 35 N/A INTRINSIC
Pfam:Bac_surface_Ag 151 468 1.8e-68 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000229751
Predicted Effect noncoding transcript
Transcript: ENSMUST00000230498
Predicted Effect noncoding transcript
Transcript: ENSMUST00000230659
Predicted Effect noncoding transcript
Transcript: ENSMUST00000230668
Predicted Effect noncoding transcript
Transcript: ENSMUST00000230830
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a component of the Sorting and Assembly Machinery (SAM) of the mitochondrial outer membrane. The Sam complex functions in the assembly of beta-barrel proteins into the outer mitochondrial membrane.[provided by RefSeq, Jun 2011]
Allele List at MGI
Other mutations in this stock
Total: 25 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1110004E09Rik G A 16: 90,929,947 T98M probably damaging Het
Abca17 C T 17: 24,327,705 W307* probably null Het
Cit A G 5: 115,859,209 I84V probably benign Het
Cltc T C 11: 86,706,714 D1132G probably benign Het
Cobll1 A T 2: 65,151,085 S54T probably damaging Het
Dcstamp A G 15: 39,754,584 R130G possibly damaging Het
Dennd4a A G 9: 64,862,327 M439V probably damaging Het
Dnajc15 T A 14: 77,840,216 I110F probably damaging Het
Dock1 T C 7: 134,851,513 F824L probably benign Het
Eml2 A G 7: 19,206,111 H617R probably damaging Het
Fgd6 A T 10: 94,044,448 Q388L possibly damaging Het
Fkbp4 A T 6: 128,434,470 probably benign Het
Fmnl3 A T 15: 99,324,772 L431Q probably damaging Het
Gng8 T C 7: 16,894,934 probably benign Het
Hmcn1 T A 1: 150,744,995 I1155F possibly damaging Het
Muc4 G T 16: 32,775,819 C3135F possibly damaging Het
Mycbp2 C T 14: 103,285,273 G685D probably damaging Het
Olfr1389 T C 11: 49,430,512 F12S probably damaging Het
Pcdhb8 A T 18: 37,357,581 I771F probably benign Het
Pkn2 A G 3: 142,794,101 probably null Het
Rrn3 G T 16: 13,806,563 V420L possibly damaging Het
Slc2a7 C T 4: 150,154,705 T129I probably benign Het
Tbc1d8 T C 1: 39,379,511 I806V probably benign Het
Tex2 T C 11: 106,546,747 E699G unknown Het
Vmn2r85 T C 10: 130,426,421 K150E possibly damaging Het
Other mutations in Samm50
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00675:Samm50 APN 15 84200375 missense possibly damaging 0.82
IGL01061:Samm50 APN 15 84202254 missense probably benign 0.00
IGL01549:Samm50 APN 15 84202781 missense probably benign
IGL01586:Samm50 APN 15 84195838 missense probably benign 0.03
IGL02494:Samm50 APN 15 84195814 missense probably benign
IGL03244:Samm50 APN 15 84214140 missense probably benign 0.09
IGL03340:Samm50 APN 15 84198663 critical splice donor site probably null
R0591:Samm50 UTSW 15 84211168 missense probably benign
R0634:Samm50 UTSW 15 84214171 synonymous silent
R1780:Samm50 UTSW 15 84211127 missense probably damaging 0.99
R2192:Samm50 UTSW 15 84200424 critical splice donor site probably null
R2205:Samm50 UTSW 15 84202314 missense probably benign 0.01
R3800:Samm50 UTSW 15 84192374 missense probably damaging 0.99
R4285:Samm50 UTSW 15 84197012 missense probably damaging 1.00
R4333:Samm50 UTSW 15 84202830 missense probably benign 0.02
R4780:Samm50 UTSW 15 84210610 missense possibly damaging 0.88
R5223:Samm50 UTSW 15 84200630 missense probably benign 0.07
R5639:Samm50 UTSW 15 84214128 missense probably benign 0.22
R6258:Samm50 UTSW 15 84200311 missense probably damaging 1.00
R6258:Samm50 UTSW 15 84200312 missense probably damaging 0.98
R6437:Samm50 UTSW 15 84204097 critical splice donor site probably null
R6452:Samm50 UTSW 15 84204097 critical splice donor site probably benign
R6715:Samm50 UTSW 15 84211058 missense probably benign
R6957:Samm50 UTSW 15 84198649 missense probably damaging 1.00
R7409:Samm50 UTSW 15 84197030 missense probably benign 0.32
R7459:Samm50 UTSW 15 84195856 critical splice donor site probably null
R7910:Samm50 UTSW 15 84214145 missense possibly damaging 0.49
R7991:Samm50 UTSW 15 84214145 missense possibly damaging 0.49
X0067:Samm50 UTSW 15 84202833 missense probably benign 0.00
Posted On2015-04-16