Incidental Mutation 'R4285:Samm50'
| ID |
322040 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Samm50
|
| Ensembl Gene |
ENSMUSG00000022437 |
| Gene Name |
SAMM50 sorting and assembly machinery component |
| Synonyms |
1110030L07Rik |
| MMRRC Submission |
041080-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.955)
|
| Stock # |
R4285 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
15 |
| Chromosomal Location |
84076441-84100284 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 84081213 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 47
(V47A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000023071
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000023071]
|
| AlphaFold |
Q8BGH2 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000023071
AA Change: V47A
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000023071
Gene: ENSMUSG00000022437
AA Change: V47A
| 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: 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
|
| Meta Mutation Damage Score |
0.7157 |
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.4%
- 20x: 95.4%
|
| Validation Efficiency |
98% (42/43) |
| 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: 40 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Agl |
G |
A |
3: 116,545,827 (GRCm39) |
S1323L |
possibly damaging |
Het |
| Ahnak |
T |
A |
19: 8,994,203 (GRCm39) |
C5162* |
probably null |
Het |
| Carmil3 |
GGACGA |
GGA |
14: 55,736,933 (GRCm39) |
|
probably benign |
Het |
| Cfap73 |
T |
C |
5: 120,770,654 (GRCm39) |
K39E |
possibly damaging |
Het |
| Coq6 |
C |
T |
12: 84,417,178 (GRCm39) |
|
probably benign |
Het |
| Dlc1 |
C |
T |
8: 37,041,282 (GRCm39) |
E1316K |
possibly damaging |
Het |
| Dscam |
A |
G |
16: 96,510,309 (GRCm39) |
|
probably null |
Het |
| Eya2 |
T |
A |
2: 165,566,700 (GRCm39) |
N250K |
probably benign |
Het |
| Fat4 |
A |
G |
3: 38,943,320 (GRCm39) |
I738V |
probably benign |
Het |
| Gria2 |
T |
G |
3: 80,614,969 (GRCm39) |
|
probably benign |
Het |
| Hnrnph3 |
A |
T |
10: 62,852,247 (GRCm39) |
D238E |
probably damaging |
Het |
| Il1rn |
T |
C |
2: 24,239,557 (GRCm39) |
L151P |
probably damaging |
Het |
| Kctd19 |
G |
A |
8: 106,109,581 (GRCm39) |
|
probably benign |
Het |
| Kdm1a |
T |
C |
4: 136,309,347 (GRCm39) |
|
probably null |
Het |
| Klk14 |
G |
A |
7: 43,341,501 (GRCm39) |
C51Y |
probably damaging |
Het |
| Lamc1 |
C |
A |
1: 153,110,298 (GRCm39) |
G1126W |
probably damaging |
Het |
| Magi3 |
C |
A |
3: 103,923,184 (GRCm39) |
G1178* |
probably null |
Het |
| Man2a2 |
T |
C |
7: 80,018,367 (GRCm39) |
D141G |
probably damaging |
Het |
| Map2k1 |
C |
A |
9: 64,119,925 (GRCm39) |
V127L |
probably damaging |
Het |
| Memo1 |
T |
C |
17: 74,562,293 (GRCm39) |
|
probably null |
Het |
| Mxd3 |
A |
G |
13: 55,477,167 (GRCm39) |
S31P |
probably benign |
Het |
| Myo5b |
G |
A |
18: 74,847,920 (GRCm39) |
E1053K |
probably benign |
Het |
| Nup50l |
T |
C |
6: 96,142,733 (GRCm39) |
T104A |
probably benign |
Het |
| Or2m12 |
A |
C |
16: 19,104,714 (GRCm39) |
F260V |
probably damaging |
Het |
| Or51a5 |
G |
T |
7: 102,771,867 (GRCm39) |
Y37* |
probably null |
Het |
| Pex5l |
A |
G |
3: 33,061,336 (GRCm39) |
I171T |
probably damaging |
Het |
| Plag1 |
A |
G |
4: 3,905,654 (GRCm39) |
V12A |
probably benign |
Het |
| Podn |
C |
A |
4: 107,878,893 (GRCm39) |
V180L |
possibly damaging |
Het |
| Prox2 |
T |
A |
12: 85,141,698 (GRCm39) |
R168S |
probably benign |
Het |
| Prss29 |
A |
G |
17: 25,541,231 (GRCm39) |
Y225C |
probably damaging |
Het |
| Rassf2 |
G |
A |
2: 131,847,314 (GRCm39) |
T97I |
probably benign |
Het |
| Shroom3 |
G |
T |
5: 93,090,945 (GRCm39) |
V1151F |
probably damaging |
Het |
| Slc20a2 |
G |
A |
8: 23,051,365 (GRCm39) |
R466Q |
probably benign |
Het |
| Slc25a51 |
C |
T |
4: 45,399,768 (GRCm39) |
V141M |
probably benign |
Het |
| St6galnac3 |
A |
C |
3: 152,912,360 (GRCm39) |
V161G |
probably benign |
Het |
| Unc5c |
T |
C |
3: 141,420,435 (GRCm39) |
I52T |
probably damaging |
Het |
| Vat1l |
A |
G |
8: 114,932,523 (GRCm39) |
E23G |
probably damaging |
Het |
| Vmn2r91 |
A |
G |
17: 18,356,030 (GRCm39) |
T566A |
probably benign |
Het |
| Wls |
A |
T |
3: 159,639,902 (GRCm39) |
H511L |
probably benign |
Het |
| Zfp644 |
G |
A |
5: 106,782,984 (GRCm39) |
T1130I |
probably 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 |
|
|
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- TCTTGAAATAGGAGTACAGGAGCTG -3'
(R):5'- CCGACAGTTTATGTAAGCTCTGG -3'
Sequencing Primer
(F):5'- TTTCCAGAGGACTTGGATACCAGC -3'
(R):5'- ATGTAAGCTCTGGGAGGCGC -3'
|
| Posted On |
2015-06-20 |
Incidental Mutation