Incidental Mutation 'IGL03340:Samm50'
ID417210
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: 0.962) question?
Stock #IGL03340
Quality Score
Status
Chromosome15
Chromosomal Location84192241-84217267 bp(+) (GRCm38)
Type of Mutationcritical splice donor site (2 bp from exon)
DNA Base Change (assembly) T to C at 84198663 bp
ZygosityHeterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000023071 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000023071]
Predicted Effect probably null
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
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
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: 43 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2700097O09Rik A G 12: 55,080,001 L26P probably benign Het
Aff1 A T 5: 103,783,804 H104L possibly damaging Het
Apon T C 10: 128,254,978 I175T probably benign Het
C2cd6 A C 1: 59,076,671 F168V probably benign Het
Cgn C T 3: 94,778,095 probably benign Het
Cramp1l G A 17: 24,973,542 P956L probably damaging Het
Cyp2e1 G A 7: 140,764,854 V78M probably damaging Het
Cyp4b1 G A 4: 115,641,879 P97S probably damaging Het
Fads2 G T 19: 10,091,772 P96Q possibly damaging Het
Fam160a2 A G 7: 105,389,310 S241P probably damaging Het
Fcer2a T C 8: 3,688,310 D120G possibly damaging Het
Gm21972 G T 1: 86,133,728 A887S probably damaging Het
Grk6 A G 13: 55,453,190 D295G probably damaging Het
Herc2 T A 7: 56,090,920 V270D possibly damaging Het
Kcnk2 T A 1: 189,295,681 I126F possibly damaging Het
Kifap3 T G 1: 163,829,149 V346G possibly damaging Het
Kpna1 T A 16: 36,000,246 N20K probably damaging Het
Krt33b A G 11: 100,025,472 probably benign Het
Krtap9-5 T C 11: 99,948,601 C43R possibly damaging Het
Lars G A 18: 42,228,650 probably benign Het
Lifr T C 15: 7,177,936 W540R probably benign Het
Lrp1b A G 2: 41,468,969 S631P probably damaging Het
Mbd1 G T 18: 74,274,482 R111L probably benign Het
Meltf C T 16: 31,892,784 T576M probably damaging Het
Mmp20 G A 9: 7,643,994 G228S probably damaging Het
Mob4 A G 1: 55,136,708 D37G possibly damaging Het
Msr1 T C 8: 39,620,007 K234E possibly damaging Het
Myof A G 19: 37,911,159 V1764A probably damaging Het
Naaladl1 A G 19: 6,106,199 Y105C possibly damaging Het
Nisch A G 14: 31,173,144 V1065A probably damaging Het
Npas4 A T 19: 4,985,066 probably benign Het
Olfr1232 T C 2: 89,325,695 T162A possibly damaging Het
Pdss2 A G 10: 43,394,001 D280G probably benign Het
Plk3 A G 4: 117,132,928 I182T probably damaging Het
Ppm1k A G 6: 57,510,726 W371R probably damaging Het
Scaper G T 9: 55,602,832 T640K possibly damaging Het
Sun3 A C 11: 9,023,285 probably benign Het
Svep1 T A 4: 58,111,451 K1056M possibly damaging Het
Tgs1 C A 4: 3,604,813 P745Q probably benign Het
Tomm20l A T 12: 71,117,614 probably benign Het
Usp38 A C 8: 81,012,276 L237V probably damaging Het
Vmn1r210 T C 13: 22,827,474 Y214C probably benign Het
Zan G A 5: 137,427,874 P2547S unknown 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
IGL02607:Samm50 APN 15 84207838 missense probably benign 0.09
IGL03244:Samm50 APN 15 84214140 missense probably benign 0.09
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 On2016-08-02