Incidental Mutation 'R5223:Samm50'
ID 499940
Institutional Source Beutler Lab
Gene Symbol Samm50
Ensembl Gene ENSMUSG00000022437
Gene Name SAMM50 sorting and assembly machinery component
Synonyms 1110030L07Rik
MMRRC Submission 042796-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.951) question?
Stock # R5223 (G1)
Quality Score 225
Status Not validated
Chromosome 15
Chromosomal Location 84192241-84217267 bp(+) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) T to G at 84200630 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Asparagine to Lysine at position 187 (N187K)
Ref Sequence ENSEMBL: ENSMUSP00000023071 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000023071]
AlphaFold Q8BGH2
Predicted Effect probably benign
Transcript: ENSMUST00000023071
AA Change: N187K

PolyPhen 2 Score 0.074 (Sensitivity: 0.93; Specificity: 0.85)
SMART Domains Protein: ENSMUSP00000023071
Gene: ENSMUSG00000022437
AA Change: N187K

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: ENSMUST00000230830
Predicted Effect noncoding transcript
Transcript: ENSMUST00000231124
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.4%
  • 10x: 96.6%
  • 20x: 93.2%
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: 70 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aatk C T 11: 120,013,452 (GRCm38) V273M possibly damaging Het
Acin1 CCGC CC 14: 54,642,941 (GRCm38) probably null Het
Acvr1b T A 15: 101,193,976 (GRCm38) C46S probably damaging Het
Ahi1 A T 10: 20,970,919 (GRCm38) H416L possibly damaging Het
Aspm T A 1: 139,478,334 (GRCm38) L1653Q probably damaging Het
Cacna1a G A 8: 84,587,195 (GRCm38) V1533M possibly damaging Het
Ccdc33 C T 9: 58,032,984 (GRCm38) E502K possibly damaging Het
Ctnnd1 C T 2: 84,616,789 (GRCm38) V371M probably damaging Het
Cyp2a12 A T 7: 27,036,463 (GRCm38) probably null Het
Ep400 A G 5: 110,668,630 (GRCm38) V2675A probably damaging Het
Foxh1 T A 15: 76,668,729 (GRCm38) probably null Het
Gad1-ps G A 10: 99,445,147 (GRCm38) noncoding transcript Het
Gm10093 A G 17: 78,492,438 (GRCm38) E286G probably benign Het
Gm13078 T A 4: 143,728,021 (GRCm38) S296R probably benign Het
Gpnmb C T 6: 49,056,205 (GRCm38) T539M probably benign Het
Hspa9 A G 18: 34,952,671 (GRCm38) probably null Het
Hspg2 T C 4: 137,543,914 (GRCm38) L2454P probably damaging Het
Ift140 T A 17: 25,035,812 (GRCm38) I422N probably benign Het
Igkv6-32 T C 6: 70,074,223 (GRCm38) S50G probably benign Het
Il23r T A 6: 67,486,170 (GRCm38) Y113F probably benign Het
Kcnt1 A G 2: 25,903,422 (GRCm38) D636G probably benign Het
Klhl41 G A 2: 69,679,827 (GRCm38) W569* probably null Het
Klra4 T A 6: 130,062,147 (GRCm38) D94V probably damaging Het
Lca5 T A 9: 83,398,613 (GRCm38) H378L probably benign Het
Lhx8 T A 3: 154,321,644 (GRCm38) T254S probably damaging Het
Lrch3 C T 16: 32,914,397 (GRCm38) R86W probably damaging Het
Lrp2 T A 2: 69,524,053 (GRCm38) N477I probably damaging Het
Man2a1 T A 17: 64,712,271 (GRCm38) I710K probably benign Het
Ncor1 A T 11: 62,339,000 (GRCm38) Y881N probably damaging Het
Nhsl1 T A 10: 18,526,326 (GRCm38) V1100E probably damaging Het
Olfr1208 T C 2: 88,897,334 (GRCm38) T88A probably benign Het
Olfr486 A G 7: 108,172,708 (GRCm38) V12A probably benign Het
Olfr855 T C 9: 19,585,026 (GRCm38) V163A probably benign Het
Oprk1 T C 1: 5,589,296 (GRCm38) V83A probably benign Het
Pacs1 C T 19: 5,145,141 (GRCm38) V472I probably benign Het
Pard3b T C 1: 62,344,113 (GRCm38) Y789H probably damaging Het
Pcdha2 T C 18: 36,940,791 (GRCm38) Y492H probably damaging Het
Pcnt T C 10: 76,380,272 (GRCm38) N2261D probably damaging Het
Pex5l A T 3: 32,958,796 (GRCm38) S15T probably damaging Het
Plekhg4 A G 8: 105,378,949 (GRCm38) N682S probably benign Het
Poc5 A T 13: 96,402,955 (GRCm38) M335L probably benign Het
Polr1a C T 6: 71,967,907 (GRCm38) R1316W possibly damaging Het
Pp2d1 T C 17: 53,507,845 (GRCm38) H617R probably benign Het
Prpsap1 T C 11: 116,488,148 (GRCm38) K65E probably benign Het
Ptgfrn T C 3: 101,045,593 (GRCm38) E775G probably benign Het
Ptprc T A 1: 138,117,862 (GRCm38) I87F probably benign Het
Rbbp8 C A 18: 11,721,690 (GRCm38) A324E probably benign Het
Rfx6 G T 10: 51,677,996 (GRCm38) G63* probably null Het
Rpl37a T C 1: 72,712,149 (GRCm38) M47T probably benign Het
Skiv2l A G 17: 34,845,166 (GRCm38) probably null Het
Slamf9 T C 1: 172,476,232 (GRCm38) I48T possibly damaging Het
Slc2a12 A G 10: 22,702,032 (GRCm38) K576E probably damaging Het
Slc4a10 G A 2: 62,253,366 (GRCm38) G388S probably damaging Het
Smtn G T 11: 3,529,530 (GRCm38) N512K probably benign Het
Sntb1 C G 15: 55,642,795 (GRCm38) G461R probably damaging Het
Sspo A G 6: 48,478,324 (GRCm38) Y3040C probably damaging Het
Stat1 T A 1: 52,144,242 (GRCm38) V389E probably damaging Het
Sult5a1 A T 8: 123,145,422 (GRCm38) M227K probably damaging Het
Thsd4 T C 9: 60,057,042 (GRCm38) D389G probably damaging Het
Tnxb T C 17: 34,704,078 (GRCm38) V2545A possibly damaging Het
Tpo T A 12: 30,092,590 (GRCm38) I712F probably damaging Het
Trim62 T C 4: 128,909,411 (GRCm38) V418A probably damaging Het
Uqcrc1 C A 9: 108,942,156 (GRCm38) H95N probably damaging Het
Vmn2r114 ATTT ATT 17: 23,290,932 (GRCm38) probably null Het
Vmn2r66 T C 7: 85,007,885 (GRCm38) D104G probably benign Het
Wdr26 T C 1: 181,187,686 (GRCm38) I371V probably benign Het
Wdr78 T A 4: 103,049,403 (GRCm38) S738C possibly damaging Het
Zfp273 T G 13: 67,826,179 (GRCm38) C475W probably damaging Het
Zfp738 G T 13: 67,673,063 (GRCm38) T55K probably damaging Het
Zmym2 A G 14: 56,946,514 (GRCm38) I978V probably benign Het
Other mutations in Samm50
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00675:Samm50 APN 15 84,200,375 (GRCm38) missense possibly damaging 0.82
IGL01061:Samm50 APN 15 84,202,254 (GRCm38) missense probably benign 0.00
IGL01549:Samm50 APN 15 84,202,781 (GRCm38) missense probably benign
IGL01586:Samm50 APN 15 84,195,838 (GRCm38) missense probably benign 0.03
IGL02494:Samm50 APN 15 84,195,814 (GRCm38) missense probably benign
IGL02607:Samm50 APN 15 84,207,838 (GRCm38) missense probably benign 0.09
IGL03244:Samm50 APN 15 84,214,140 (GRCm38) missense probably benign 0.09
IGL03340:Samm50 APN 15 84,198,663 (GRCm38) critical splice donor site probably null
R0591:Samm50 UTSW 15 84,211,168 (GRCm38) missense probably benign
R0634:Samm50 UTSW 15 84,214,171 (GRCm38) synonymous silent
R1780:Samm50 UTSW 15 84,211,127 (GRCm38) missense probably damaging 0.99
R2192:Samm50 UTSW 15 84,200,424 (GRCm38) critical splice donor site probably null
R2205:Samm50 UTSW 15 84,202,314 (GRCm38) missense probably benign 0.01
R3800:Samm50 UTSW 15 84,192,374 (GRCm38) missense probably damaging 0.99
R4285:Samm50 UTSW 15 84,197,012 (GRCm38) missense probably damaging 1.00
R4333:Samm50 UTSW 15 84,202,830 (GRCm38) missense probably benign 0.02
R4780:Samm50 UTSW 15 84,210,610 (GRCm38) missense possibly damaging 0.88
R5639:Samm50 UTSW 15 84,214,128 (GRCm38) missense probably benign 0.22
R6258:Samm50 UTSW 15 84,200,312 (GRCm38) missense probably damaging 0.98
R6258:Samm50 UTSW 15 84,200,311 (GRCm38) missense probably damaging 1.00
R6437:Samm50 UTSW 15 84,204,097 (GRCm38) critical splice donor site probably null
R6452:Samm50 UTSW 15 84,204,097 (GRCm38) critical splice donor site probably benign
R6715:Samm50 UTSW 15 84,211,058 (GRCm38) missense probably benign
R6957:Samm50 UTSW 15 84,198,649 (GRCm38) missense probably damaging 1.00
R7409:Samm50 UTSW 15 84,197,030 (GRCm38) missense probably benign 0.32
R7459:Samm50 UTSW 15 84,195,856 (GRCm38) critical splice donor site probably null
R7706:Samm50 UTSW 15 84,200,880 (GRCm38) splice site probably null
R7910:Samm50 UTSW 15 84,214,145 (GRCm38) missense possibly damaging 0.49
R8421:Samm50 UTSW 15 84,210,585 (GRCm38) missense probably benign 0.04
R8443:Samm50 UTSW 15 84,210,501 (GRCm38) missense possibly damaging 0.82
R9339:Samm50 UTSW 15 84,211,075 (GRCm38) missense probably benign 0.00
R9457:Samm50 UTSW 15 84,207,841 (GRCm38) missense probably damaging 1.00
X0067:Samm50 UTSW 15 84,202,833 (GRCm38) missense probably benign 0.00
Predicted Primers PCR Primer
(F):5'- CAGGTCCTTGAGCTCATTGG -3'
(R):5'- TACCTGCATTAGCTAGCGAAG -3'

Sequencing Primer
(F):5'- AGCTCATTGGCTTGGTGTAAAC -3'
(R):5'- CCTGCATTAGCTAGCGAAGAGGAG -3'
Posted On 2017-11-30