Incidental Mutation 'R0634:Samm50'
ID 58175
Institutional Source Beutler Lab
Gene Symbol Samm50
Ensembl Gene ENSMUSG00000022437
Gene Name SAMM50 sorting and assembly machinery component
Synonyms 1110030L07Rik
MMRRC Submission 038823-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.955) question?
Stock # R0634 (G1)
Quality Score 225
Status Validated
Chromosome 15
Chromosomal Location 84076441-84100284 bp(+) (GRCm39)
Type of Mutation synonymous
DNA Base Change (assembly) A to G at 84098372 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000023071 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000023071]
AlphaFold Q8BGH2
Predicted Effect silent
Transcript: ENSMUST00000023071
SMART Domains Protein: ENSMUSP00000023071
Gene: ENSMUSG00000022437

DomainStartEndE-ValueType
low complexity region 24 35 N/A INTRINSIC
Pfam:Bac_surface_Ag 151 468 1.8e-68 PFAM
Meta Mutation Damage Score 0.0869 question?
Coding Region Coverage
  • 1x: 99.4%
  • 3x: 99.0%
  • 10x: 97.9%
  • 20x: 96.2%
Validation Efficiency 98% (62/63)
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: 61 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca13 A G 11: 9,264,491 (GRCm39) I2958V possibly damaging Het
Adam21 C A 12: 81,607,126 (GRCm39) W212L probably benign Het
Adcy2 A C 13: 68,876,064 (GRCm39) H479Q possibly damaging Het
Adcy4 T C 14: 56,019,054 (GRCm39) R168G probably benign Het
Adrm1b C T 3: 92,336,116 (GRCm39) W125* probably null Het
Atp13a2 T C 4: 140,734,240 (GRCm39) probably benign Het
C1ra G A 6: 124,494,464 (GRCm39) E304K possibly damaging Het
Cc2d2a A C 5: 43,838,723 (GRCm39) probably benign Het
Cenpe T C 3: 134,952,588 (GRCm39) L1426P probably damaging Het
Cntn1 A T 15: 92,212,444 (GRCm39) R869* probably null Het
Creb3l2 A T 6: 37,311,283 (GRCm39) probably benign Het
Crybg2 G A 4: 133,802,615 (GRCm39) probably benign Het
Csmd1 A T 8: 16,276,405 (GRCm39) F800I probably damaging Het
Dock6 G A 9: 21,752,823 (GRCm39) T330I probably damaging Het
Ets2 G A 16: 95,517,200 (GRCm39) E311K possibly damaging Het
Fbxo22 A T 9: 55,122,244 (GRCm39) Q141L probably benign Het
Fer C T 17: 64,342,503 (GRCm39) T223M probably benign Het
Gtf3c1 A T 7: 125,256,649 (GRCm39) probably benign Het
Gtf3c2 G A 5: 31,317,150 (GRCm39) R684* probably null Het
Hs6st3 T A 14: 120,106,474 (GRCm39) L294* probably null Het
Ighg2c T G 12: 113,251,584 (GRCm39) E181A unknown Het
Igkv6-15 A T 6: 70,383,763 (GRCm39) probably benign Het
Irag2 A T 6: 145,120,354 (GRCm39) H523L probably damaging Het
Map2k6 C T 11: 110,385,169 (GRCm39) R178* probably null Het
Meikin T A 11: 54,281,309 (GRCm39) D126E probably benign Het
Mgst1 A T 6: 138,133,329 (GRCm39) T37S probably damaging Het
Mrc2 G A 11: 105,238,518 (GRCm39) V1222M probably benign Het
Myom2 C A 8: 15,169,216 (GRCm39) probably benign Het
Negr1 A G 3: 156,721,903 (GRCm39) K159R possibly damaging Het
Nptx1 T C 11: 119,434,127 (GRCm39) T320A possibly damaging Het
Or12j3 A T 7: 139,953,310 (GRCm39) V71E possibly damaging Het
Or4p21 A T 2: 88,276,961 (GRCm39) M107K probably benign Het
Or5p66 T C 7: 107,885,503 (GRCm39) I277V probably benign Het
Pes1 C T 11: 3,927,794 (GRCm39) probably benign Het
Pes1 T G 11: 3,927,795 (GRCm39) probably benign Het
Pkhd1 A T 1: 20,187,698 (GRCm39) Y3537N probably damaging Het
Poteg G A 8: 27,963,615 (GRCm39) G289R probably benign Het
Pramel29 A G 4: 143,935,910 (GRCm39) probably null Het
Rassf5 T C 1: 131,172,693 (GRCm39) R59G probably damaging Het
Reln A T 5: 22,223,867 (GRCm39) W961R probably damaging Het
Rhot2 G A 17: 26,061,002 (GRCm39) H168Y possibly damaging Het
Ripk3 G T 14: 56,025,848 (GRCm39) probably benign Het
Sap30bp T C 11: 115,848,229 (GRCm39) I117T probably damaging Het
Sephs1 A G 2: 4,904,371 (GRCm39) T250A probably benign Het
Sipa1l2 A T 8: 126,149,363 (GRCm39) L1632* probably null Het
Sirt7 T C 11: 120,512,955 (GRCm39) probably benign Het
Smg8 T C 11: 86,976,934 (GRCm39) T216A possibly damaging Het
Sox9 A G 11: 112,675,768 (GRCm39) Y319C probably damaging Het
Sspn G A 6: 145,906,877 (GRCm39) A27T possibly damaging Het
Suco A G 1: 161,666,373 (GRCm39) V509A possibly damaging Het
Svep1 C T 4: 58,070,661 (GRCm39) C2375Y possibly damaging Het
Trbv21 T A 6: 41,179,984 (GRCm39) probably benign Het
Uimc1 C T 13: 55,208,079 (GRCm39) E455K possibly damaging Het
Upk3b A G 5: 136,068,930 (GRCm39) T100A possibly damaging Het
Usp47 A G 7: 111,707,862 (GRCm39) N1303D probably damaging Het
Vav1 A T 17: 57,610,862 (GRCm39) D476V probably benign Het
Vmn1r68 A G 7: 10,261,162 (GRCm39) V312A probably benign Het
Wdr62 A G 7: 29,969,599 (GRCm39) V287A probably damaging Het
Zcchc4 C T 5: 52,940,550 (GRCm39) P40S probably benign Het
Zfp326 T A 5: 106,034,069 (GRCm39) Y26* probably null Het
Zfp592 A G 7: 80,687,819 (GRCm39) H915R probably 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
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
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
Predicted Primers PCR Primer
(F):5'- GGCTCTACTTGCTGTCCTGACAAC -3'
(R):5'- TGTCCATAAAGACGCATGGCCTG -3'

Sequencing Primer
(F):5'- TCCTGACAACAGGACAGTGC -3'
(R):5'- GACGCATGGCCTGAAAAAC -3'
Posted On 2013-07-11