Incidental Mutation 'IGL03244:Samm50'
| ID |
414352 |
| 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 # |
IGL03244
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
15 |
| Chromosomal Location |
84076441-84100284 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 84098341 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 460
(V460A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000023071
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000023071]
|
| AlphaFold |
Q8BGH2 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000023071
AA Change: V460A
PolyPhen 2
Score 0.085 (Sensitivity: 0.93; Specificity: 0.85)
|
| SMART Domains |
Protein: ENSMUSP00000023071
Gene: ENSMUSG00000022437
AA Change: V460A
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
24 |
35 |
N/A |
INTRINSIC |
|
Pfam:Bac_surface_Ag
|
151 |
468 |
1.8e-68 |
PFAM |
|
| 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: 37 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ank2 |
C |
A |
3: 126,749,519 (GRCm39) |
E503D |
probably damaging |
Het |
| Aoc1 |
T |
C |
6: 48,882,756 (GRCm39) |
Y233H |
possibly damaging |
Het |
| Apaf1 |
A |
T |
10: 90,885,211 (GRCm39) |
|
probably benign |
Het |
| Asah2 |
T |
C |
19: 31,964,342 (GRCm39) |
Y696C |
probably damaging |
Het |
| Atp8b3 |
A |
T |
10: 80,370,292 (GRCm39) |
D112E |
probably damaging |
Het |
| B3gat3 |
T |
C |
19: 8,903,215 (GRCm39) |
Y191H |
probably damaging |
Het |
| Capns2 |
T |
C |
8: 93,628,738 (GRCm39) |
I209T |
probably damaging |
Het |
| Ccnl2 |
T |
C |
4: 155,905,479 (GRCm39) |
I303T |
probably benign |
Het |
| Cdk5rap2 |
A |
T |
4: 70,199,672 (GRCm39) |
S817R |
probably benign |
Het |
| Cep57 |
A |
T |
9: 13,729,683 (GRCm39) |
L36* |
probably null |
Het |
| Cers4 |
T |
A |
8: 4,566,878 (GRCm39) |
V60E |
probably damaging |
Het |
| Ces2e |
T |
C |
8: 105,655,451 (GRCm39) |
Y125H |
probably benign |
Het |
| Cyp4f18 |
T |
C |
8: 72,742,489 (GRCm39) |
E497G |
probably benign |
Het |
| Ddx24 |
A |
T |
12: 103,383,864 (GRCm39) |
M575K |
possibly damaging |
Het |
| Dmxl2 |
A |
T |
9: 54,323,655 (GRCm39) |
V1243E |
probably damaging |
Het |
| Elf2 |
A |
T |
3: 51,165,193 (GRCm39) |
Y270* |
probably null |
Het |
| Ep400 |
A |
G |
5: 110,875,429 (GRCm39) |
L844S |
unknown |
Het |
| F13a1 |
A |
T |
13: 37,172,870 (GRCm39) |
I170N |
possibly damaging |
Het |
| Gm16506 |
T |
A |
14: 43,961,603 (GRCm39) |
|
probably benign |
Het |
| Grm4 |
A |
G |
17: 27,653,797 (GRCm39) |
F463L |
probably damaging |
Het |
| H2-M10.2 |
A |
T |
17: 36,596,463 (GRCm39) |
N127K |
probably benign |
Het |
| Lrrc49 |
T |
C |
9: 60,495,140 (GRCm39) |
Y691C |
probably damaging |
Het |
| Mbip |
A |
C |
12: 56,384,547 (GRCm39) |
|
probably null |
Het |
| Or9k2 |
T |
A |
10: 129,998,269 (GRCm39) |
K309* |
probably null |
Het |
| Plod1 |
C |
T |
4: 148,007,580 (GRCm39) |
|
probably null |
Het |
| Primpol |
A |
G |
8: 47,039,475 (GRCm39) |
W382R |
probably damaging |
Het |
| Rufy2 |
A |
G |
10: 62,840,483 (GRCm39) |
E418G |
probably benign |
Het |
| Senp2 |
T |
C |
16: 21,859,329 (GRCm39) |
V460A |
probably damaging |
Het |
| Simc1 |
A |
G |
13: 54,698,442 (GRCm39) |
H453R |
probably benign |
Het |
| Slc22a22 |
A |
G |
15: 57,112,948 (GRCm39) |
|
probably benign |
Het |
| Spag1 |
A |
T |
15: 36,234,529 (GRCm39) |
D763V |
probably benign |
Het |
| Thsd7a |
T |
A |
6: 12,504,167 (GRCm39) |
|
probably benign |
Het |
| Tppp |
G |
T |
13: 74,169,535 (GRCm39) |
V92F |
possibly damaging |
Het |
| Vmn1r32 |
G |
A |
6: 66,530,489 (GRCm39) |
L96F |
probably damaging |
Het |
| Vmn2r53 |
C |
A |
7: 12,340,435 (GRCm39) |
A13S |
probably damaging |
Het |
| Vmn2r75 |
G |
A |
7: 85,820,933 (GRCm39) |
|
probably benign |
Het |
| Zfp750 |
C |
A |
11: 121,404,513 (GRCm39) |
G121* |
probably null |
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 |
|
|
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 |
|
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 |
2016-08-02 |
Incidental Mutation