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)
|
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
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: 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
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
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 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH 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 |