Incidental Mutation 'IGL01586:Samm50'
ID 91817
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: 0.951) question?
Stock # IGL01586
Quality Score
Status
Chromosome 15
Chromosomal Location 84076441-84100284 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 84080039 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Asparagine at position 39 (I39N)
Ref Sequence ENSEMBL: ENSMUSP00000023071 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000023071]
AlphaFold Q8BGH2
Predicted Effect probably benign
Transcript: ENSMUST00000023071
AA Change: I39N

PolyPhen 2 Score 0.032 (Sensitivity: 0.95; Specificity: 0.82)
SMART Domains Protein: ENSMUSP00000023071
Gene: ENSMUSG00000022437
AA Change: I39N

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: ENSMUST00000230659
Predicted Effect noncoding transcript
Transcript: ENSMUST00000230668
Predicted Effect noncoding transcript
Transcript: ENSMUST00000231124
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: 35 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
9830107B12Rik A T 17: 48,439,125 (GRCm39) Y144N unknown Het
Abca9 A C 11: 110,045,243 (GRCm39) C363W probably damaging Het
Acmsd G A 1: 127,687,447 (GRCm39) R243H probably damaging Het
Adam33 T C 2: 130,895,970 (GRCm39) T490A probably damaging Het
Ank1 A G 8: 23,610,928 (GRCm39) D1411G probably benign Het
Arhgap39 T C 15: 76,614,638 (GRCm39) E842G probably benign Het
Asgr2 T C 11: 69,996,193 (GRCm39) probably benign Het
Bbs9 T C 9: 22,557,293 (GRCm39) V14A possibly damaging Het
Cer1 A G 4: 82,803,080 (GRCm39) S81P probably damaging Het
Cln6 T A 9: 62,751,900 (GRCm39) H41Q probably damaging Het
Dock1 A G 7: 134,355,106 (GRCm39) D334G probably damaging Het
Dpy19l2 A G 9: 24,578,271 (GRCm39) I261T probably benign Het
Fhod3 T G 18: 25,223,804 (GRCm39) I1050S probably damaging Het
Gbgt1 T C 2: 28,387,842 (GRCm39) V22A probably benign Het
Izumo3 A G 4: 92,034,532 (GRCm39) probably null Het
Kif11 T C 19: 37,372,681 (GRCm39) probably benign Het
Krt1c C A 15: 101,719,825 (GRCm39) G615V unknown Het
Midn A G 10: 79,992,477 (GRCm39) probably benign Het
Mier1 C T 4: 103,012,769 (GRCm39) T342I probably damaging Het
Mycbp2 A T 14: 103,378,305 (GRCm39) probably null Het
Nrp1 A T 8: 129,158,513 (GRCm39) S267C possibly damaging Het
Or8b8 A G 9: 37,809,272 (GRCm39) T191A possibly damaging Het
Pcdh20 A T 14: 88,708,344 (GRCm39) M28K probably benign Het
Prmt5 G A 14: 54,747,408 (GRCm39) probably benign Het
Psmg2 G A 18: 67,786,293 (GRCm39) V218I probably benign Het
Rps6ka5 T C 12: 100,537,173 (GRCm39) E519G probably damaging Het
Shc2 A T 10: 79,458,138 (GRCm39) M515K probably damaging Het
Sorbs2 T A 8: 46,248,631 (GRCm39) F608L probably damaging Het
Sos2 T C 12: 69,654,172 (GRCm39) K727E probably damaging Het
Sox13 A T 1: 133,317,182 (GRCm39) H150Q possibly damaging Het
Tmem132e T C 11: 82,325,495 (GRCm39) V165A probably damaging Het
Trmt11 T C 10: 30,473,747 (GRCm39) T43A probably benign Het
Tyrp1 G T 4: 80,763,135 (GRCm39) V341L probably benign Het
Ugt2b35 C A 5: 87,159,250 (GRCm39) H481Q probably benign Het
Zzz3 T A 3: 152,161,476 (GRCm39) I290N possibly damaging Het
Other mutations in Samm50
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00675:Samm50 APN 15 84,084,576 (GRCm39) missense possibly damaging 0.82
IGL01061:Samm50 APN 15 84,086,455 (GRCm39) missense probably benign 0.00
IGL01549:Samm50 APN 15 84,086,982 (GRCm39) missense probably benign
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 2013-12-09