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)
|
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
Domain | Start | End | E-Value | Type |
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
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
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 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH 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 |