Incidental Mutation 'IGL01061:Samm50'
| ID |
52748 |
| 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 # |
IGL01061
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
15 |
| Chromosomal Location |
84076441-84100284 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 84086455 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Alanine
at position 225
(T225A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000023071
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000023071]
|
| AlphaFold |
Q8BGH2 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000023071
AA Change: T225A
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000023071
Gene: ENSMUSG00000022437
AA Change: T225A
| 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: 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: 48 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aen |
G |
A |
7: 78,557,050 (GRCm39) |
M299I |
probably damaging |
Het |
| Ankfy1 |
T |
A |
11: 72,619,686 (GRCm39) |
C186* |
probably null |
Het |
| Ankmy1 |
A |
T |
1: 92,798,696 (GRCm39) |
|
probably benign |
Het |
| B3gnt2 |
T |
A |
11: 22,786,042 (GRCm39) |
E382V |
probably damaging |
Het |
| Carmil3 |
T |
G |
14: 55,736,087 (GRCm39) |
S610A |
possibly damaging |
Het |
| Cfap70 |
T |
C |
14: 20,497,693 (GRCm39) |
|
probably benign |
Het |
| Chek1 |
G |
A |
9: 36,625,815 (GRCm39) |
R277C |
possibly damaging |
Het |
| Cpb1 |
T |
A |
3: 20,320,680 (GRCm39) |
I92L |
probably benign |
Het |
| Ddx56 |
C |
T |
11: 6,214,671 (GRCm39) |
|
probably null |
Het |
| Dicer1 |
A |
T |
12: 104,672,586 (GRCm39) |
M887K |
probably null |
Het |
| Dnajc18 |
A |
G |
18: 35,813,995 (GRCm39) |
|
probably benign |
Het |
| Dock2 |
A |
G |
11: 34,596,653 (GRCm39) |
V401A |
probably damaging |
Het |
| Dock4 |
A |
C |
12: 40,752,968 (GRCm39) |
N434T |
probably benign |
Het |
| Dync2i1 |
C |
A |
12: 116,193,324 (GRCm39) |
A543S |
probably benign |
Het |
| Ehbp1l1 |
A |
T |
19: 5,767,916 (GRCm39) |
M1129K |
probably benign |
Het |
| Fam83a |
A |
T |
15: 57,849,771 (GRCm39) |
Y105F |
possibly damaging |
Het |
| Fnbp1 |
C |
A |
2: 30,973,054 (GRCm39) |
D70Y |
probably damaging |
Het |
| Gtf3c2 |
A |
G |
5: 31,325,698 (GRCm39) |
F414L |
possibly damaging |
Het |
| Kndc1 |
A |
T |
7: 139,502,610 (GRCm39) |
E965D |
probably benign |
Het |
| Lrrc66 |
T |
C |
5: 73,772,842 (GRCm39) |
K209E |
probably benign |
Het |
| Mcm3 |
A |
T |
1: 20,884,720 (GRCm39) |
I261N |
possibly damaging |
Het |
| Mier3 |
T |
A |
13: 111,850,970 (GRCm39) |
|
probably benign |
Het |
| Muc6 |
T |
C |
7: 141,234,720 (GRCm39) |
E669G |
probably damaging |
Het |
| Myh1 |
T |
A |
11: 67,108,688 (GRCm39) |
M1368K |
probably benign |
Het |
| Nav1 |
A |
G |
1: 135,378,368 (GRCm39) |
I1653T |
probably damaging |
Het |
| Nuak1 |
C |
A |
10: 84,210,998 (GRCm39) |
L363F |
probably damaging |
Het |
| Or14j2 |
A |
G |
17: 37,885,795 (GRCm39) |
I173T |
possibly damaging |
Het |
| Or52b1 |
A |
G |
7: 104,978,589 (GRCm39) |
I270T |
possibly damaging |
Het |
| Or9i1 |
T |
C |
19: 13,840,069 (GRCm39) |
V304A |
possibly damaging |
Het |
| Pkd1l3 |
A |
G |
8: 110,365,338 (GRCm39) |
H1153R |
probably damaging |
Het |
| Poglut3 |
A |
G |
9: 53,299,887 (GRCm39) |
|
probably benign |
Het |
| Ppp6r2 |
A |
T |
15: 89,170,218 (GRCm39) |
|
probably benign |
Het |
| Prelid3b |
T |
C |
2: 174,307,614 (GRCm39) |
|
probably null |
Het |
| Prrt3 |
T |
C |
6: 113,474,731 (GRCm39) |
K164E |
possibly damaging |
Het |
| Rab22a |
T |
A |
2: 173,530,003 (GRCm39) |
D60E |
probably damaging |
Het |
| Rab32 |
A |
G |
10: 10,433,618 (GRCm39) |
L72P |
probably damaging |
Het |
| Snx27 |
T |
A |
3: 94,436,287 (GRCm39) |
|
probably benign |
Het |
| Taf7 |
G |
A |
18: 37,776,486 (GRCm39) |
T27M |
probably damaging |
Het |
| Tgm5 |
A |
T |
2: 120,901,977 (GRCm39) |
C231S |
probably benign |
Het |
| Tll1 |
A |
G |
8: 64,491,488 (GRCm39) |
|
probably null |
Het |
| Tmem150a |
A |
G |
6: 72,334,101 (GRCm39) |
D61G |
probably damaging |
Het |
| Ttll8 |
G |
A |
15: 88,801,453 (GRCm39) |
R412C |
possibly damaging |
Het |
| Ubr3 |
T |
A |
2: 69,813,569 (GRCm39) |
D1293E |
probably benign |
Het |
| Utp20 |
T |
C |
10: 88,606,566 (GRCm39) |
N1669D |
probably benign |
Het |
| Vmn2r28 |
A |
G |
7: 5,491,183 (GRCm39) |
W355R |
probably damaging |
Het |
| Yars2 |
C |
T |
16: 16,124,406 (GRCm39) |
R338* |
probably null |
Het |
| Zfhx2 |
T |
A |
14: 55,311,339 (GRCm39) |
N452Y |
possibly damaging |
Het |
| Zfp180 |
T |
G |
7: 23,804,170 (GRCm39) |
D196E |
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 |
|
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 |
2013-06-21 |
Incidental Mutation