Incidental Mutation 'IGL00675:Samm50'
ID 13910
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Samm50
Ensembl Gene ENSMUSG00000022437
Gene Name SAMM50 sorting and assembly machinery component
Synonyms 1110030L07Rik
Accession Numbers
Essential gene? Probably essential (E-score: 0.955) question?
Stock # IGL00675
Quality Score
Status
Chromosome 15
Chromosomal Location 84076441-84100284 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 84084576 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Phenylalanine at position 171 (S171F)
Ref Sequence ENSEMBL: ENSMUSP00000023071 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000023071]
AlphaFold Q8BGH2
Predicted Effect possibly damaging
Transcript: ENSMUST00000023071
AA Change: S171F

PolyPhen 2 Score 0.819 (Sensitivity: 0.84; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000023071
Gene: ENSMUSG00000022437
AA Change: S171F

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: ENSMUST00000229608
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: ENSMUST00000231124
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: 17 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca5 A T 11: 110,195,811 (GRCm39) D549E probably damaging Het
Abcc9 A G 6: 142,610,347 (GRCm39) F606L probably damaging Het
Bltp3a C T 17: 28,095,891 (GRCm39) probably benign Het
Canx A G 11: 50,191,823 (GRCm39) S363P possibly damaging Het
Cdh6 T C 15: 13,041,525 (GRCm39) D513G possibly damaging Het
Cyp11a1 G T 9: 57,926,596 (GRCm39) G111W probably damaging Het
Dnm1l A G 16: 16,151,691 (GRCm39) probably null Het
Dsg1b T A 18: 20,524,975 (GRCm39) L137* probably null Het
Kcnh5 A T 12: 75,160,963 (GRCm39) probably null Het
Kcnu1 A G 8: 26,341,877 (GRCm39) E74G probably benign Het
Nlrp9b T A 7: 19,757,111 (GRCm39) I116K possibly damaging Het
Notch2 T C 3: 98,018,991 (GRCm39) Y718H possibly damaging Het
Prkdc T C 16: 15,605,022 (GRCm39) L2980P probably benign Het
Saraf T A 8: 34,634,962 (GRCm39) S288T probably benign Het
Ubr5 C T 15: 38,018,528 (GRCm39) V865I possibly damaging Het
Vnn3 G T 10: 23,743,066 (GRCm39) K425N possibly damaging Het
Zswim8 T C 14: 20,766,969 (GRCm39) probably benign Het
Other mutations in Samm50
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01061:Samm50 APN 15 84,086,455 (GRCm39) missense probably benign 0.00
IGL01549:Samm50 APN 15 84,086,982 (GRCm39) missense probably benign
IGL01586:Samm50 APN 15 84,080,039 (GRCm39) missense probably benign 0.03
IGL02494:Samm50 APN 15 84,080,015 (GRCm39) missense probably benign
IGL02607:Samm50 APN 15 84,092,039 (GRCm39) missense probably benign 0.09
IGL03244:Samm50 APN 15 84,098,341 (GRCm39) missense probably benign 0.09
IGL03340:Samm50 APN 15 84,082,864 (GRCm39) critical splice donor site probably null
R0591:Samm50 UTSW 15 84,095,369 (GRCm39) missense probably benign
R0634:Samm50 UTSW 15 84,098,372 (GRCm39) synonymous silent
R1780:Samm50 UTSW 15 84,095,328 (GRCm39) missense probably damaging 0.99
R2192:Samm50 UTSW 15 84,084,625 (GRCm39) critical splice donor site probably null
R2205:Samm50 UTSW 15 84,086,515 (GRCm39) missense probably benign 0.01
R3800:Samm50 UTSW 15 84,076,575 (GRCm39) missense probably damaging 0.99
R4285:Samm50 UTSW 15 84,081,213 (GRCm39) missense probably damaging 1.00
R4333:Samm50 UTSW 15 84,087,031 (GRCm39) missense probably benign 0.02
R4780:Samm50 UTSW 15 84,094,811 (GRCm39) missense possibly damaging 0.88
R5223:Samm50 UTSW 15 84,084,831 (GRCm39) missense probably benign 0.07
R5639:Samm50 UTSW 15 84,098,329 (GRCm39) missense probably benign 0.22
R6258:Samm50 UTSW 15 84,084,513 (GRCm39) missense probably damaging 0.98
R6258:Samm50 UTSW 15 84,084,512 (GRCm39) missense probably damaging 1.00
R6437:Samm50 UTSW 15 84,088,298 (GRCm39) critical splice donor site probably null
R6452:Samm50 UTSW 15 84,088,298 (GRCm39) critical splice donor site probably benign
R6715:Samm50 UTSW 15 84,095,259 (GRCm39) missense probably benign
R6957:Samm50 UTSW 15 84,082,850 (GRCm39) missense probably damaging 1.00
R7409:Samm50 UTSW 15 84,081,231 (GRCm39) missense probably benign 0.32
R7459:Samm50 UTSW 15 84,080,057 (GRCm39) critical splice donor site probably null
R7706:Samm50 UTSW 15 84,085,081 (GRCm39) splice site probably null
R7910:Samm50 UTSW 15 84,098,346 (GRCm39) missense possibly damaging 0.49
R8421:Samm50 UTSW 15 84,094,786 (GRCm39) missense probably benign 0.04
R8443:Samm50 UTSW 15 84,094,702 (GRCm39) missense possibly damaging 0.82
R9339:Samm50 UTSW 15 84,095,276 (GRCm39) missense probably benign 0.00
R9457:Samm50 UTSW 15 84,092,042 (GRCm39) missense probably damaging 1.00
X0067:Samm50 UTSW 15 84,087,034 (GRCm39) missense probably benign 0.00
Posted On 2012-12-06