Incidental Mutation 'R6437:Samm50'
| ID |
518835 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Samm50
|
| Ensembl Gene |
ENSMUSG00000022437 |
| Gene Name |
SAMM50 sorting and assembly machinery component |
| Synonyms |
1110030L07Rik |
| MMRRC Submission |
044575-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.955)
|
| Stock # |
R6437 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
15 |
| Chromosomal Location |
84076441-84100284 bp(+) (GRCm39) |
| Type of Mutation |
critical splice donor site (2 bp from exon) |
| DNA Base Change (assembly) |
T to A
at 84088298 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000023071
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000023071]
|
| AlphaFold |
Q8BGH2 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000023071
|
| SMART Domains |
Protein: ENSMUSP00000023071
Gene: ENSMUSG00000022437
| 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 |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 98.2%
- 20x: 94.8%
|
| Validation Efficiency |
100% (52/52) |
| 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: 51 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Afg2a |
T |
A |
3: 37,582,347 (GRCm39) |
V794E |
probably damaging |
Het |
| Agrn |
C |
T |
4: 156,261,235 (GRCm39) |
V514I |
probably damaging |
Het |
| Atg16l1 |
T |
C |
1: 87,718,370 (GRCm39) |
L545P |
probably damaging |
Het |
| Ces3b |
T |
A |
8: 105,819,238 (GRCm39) |
D431E |
probably damaging |
Het |
| Cracr2a |
A |
G |
6: 127,608,794 (GRCm39) |
D291G |
probably damaging |
Het |
| Csmd2 |
T |
G |
4: 127,881,893 (GRCm39) |
C11G |
probably benign |
Het |
| Cstdc3 |
A |
G |
16: 36,132,999 (GRCm39) |
E92G |
probably damaging |
Het |
| Dido1 |
A |
G |
2: 180,316,806 (GRCm39) |
I127T |
probably damaging |
Het |
| Dpp8 |
A |
T |
9: 64,981,860 (GRCm39) |
Y714F |
probably benign |
Het |
| Efcab5 |
G |
A |
11: 77,028,728 (GRCm39) |
A201V |
probably benign |
Het |
| Eif3h |
C |
T |
15: 51,662,660 (GRCm39) |
V129I |
probably benign |
Het |
| Eml2 |
G |
A |
7: 18,935,088 (GRCm39) |
V432I |
probably damaging |
Het |
| Fars2 |
G |
A |
13: 36,388,846 (GRCm39) |
V112I |
probably benign |
Het |
| Fbn2 |
T |
G |
18: 58,246,435 (GRCm39) |
D489A |
probably damaging |
Het |
| Frmd4b |
G |
T |
6: 97,273,228 (GRCm39) |
S675R |
probably damaging |
Het |
| Fsip2 |
C |
T |
2: 82,813,836 (GRCm39) |
S3385F |
possibly damaging |
Het |
| Gtpbp10 |
A |
G |
5: 5,607,406 (GRCm39) |
Y12H |
probably damaging |
Het |
| Kcng3 |
A |
G |
17: 83,938,558 (GRCm39) |
S164P |
probably damaging |
Het |
| Kifap3 |
T |
A |
1: 163,685,095 (GRCm39) |
L483Q |
probably damaging |
Het |
| Klk10 |
A |
G |
7: 43,432,241 (GRCm39) |
H58R |
probably benign |
Het |
| Kntc1 |
T |
G |
5: 123,907,754 (GRCm39) |
W452G |
probably damaging |
Het |
| Krt87 |
C |
T |
15: 101,336,273 (GRCm39) |
D127N |
possibly damaging |
Het |
| Ldaf1 |
A |
T |
7: 119,715,584 (GRCm39) |
|
probably null |
Het |
| Lipm |
A |
G |
19: 34,098,657 (GRCm39) |
Y377C |
probably damaging |
Het |
| Mrc2 |
G |
A |
11: 105,240,669 (GRCm39) |
R1453H |
probably damaging |
Het |
| Nat1 |
T |
C |
8: 67,944,388 (GRCm39) |
F255L |
possibly damaging |
Het |
| Neb |
C |
T |
2: 52,147,569 (GRCm39) |
|
probably null |
Het |
| Nek5 |
T |
A |
8: 22,575,476 (GRCm39) |
D491V |
possibly damaging |
Het |
| Nynrin |
T |
C |
14: 56,109,227 (GRCm39) |
S1445P |
probably benign |
Het |
| Oog2 |
T |
A |
4: 143,921,678 (GRCm39) |
|
probably null |
Het |
| Or2j6 |
C |
T |
7: 139,980,434 (GRCm39) |
C175Y |
probably damaging |
Het |
| Pafah1b1 |
T |
C |
11: 74,568,557 (GRCm39) |
T391A |
probably benign |
Het |
| Pcdhb7 |
T |
C |
18: 37,475,743 (GRCm39) |
L293P |
probably damaging |
Het |
| Plce1 |
A |
T |
19: 38,513,576 (GRCm39) |
T292S |
probably benign |
Het |
| Pold1 |
G |
A |
7: 44,188,202 (GRCm39) |
R559C |
probably damaging |
Het |
| Rfx7 |
A |
G |
9: 72,525,768 (GRCm39) |
Q986R |
possibly damaging |
Het |
| Rrp9 |
G |
T |
9: 106,360,150 (GRCm39) |
R186L |
probably benign |
Het |
| Scoc |
T |
C |
8: 84,164,616 (GRCm39) |
D7G |
probably benign |
Het |
| Smad9 |
C |
T |
3: 54,693,505 (GRCm39) |
P145S |
probably benign |
Het |
| Smc1b |
C |
T |
15: 84,976,232 (GRCm39) |
R825Q |
probably benign |
Het |
| Snrk |
A |
G |
9: 121,995,879 (GRCm39) |
R553G |
probably damaging |
Het |
| Srcap |
T |
A |
7: 127,127,722 (GRCm39) |
|
probably null |
Het |
| Syne2 |
T |
A |
12: 76,037,188 (GRCm39) |
V3789E |
possibly damaging |
Het |
| Thsd7b |
T |
C |
1: 129,744,419 (GRCm39) |
I769T |
probably damaging |
Het |
| Ttc7 |
A |
G |
17: 87,637,534 (GRCm39) |
K430E |
probably damaging |
Het |
| Ubr4 |
T |
A |
4: 139,124,525 (GRCm39) |
|
probably null |
Het |
| Vmn2r106 |
C |
T |
17: 20,488,725 (GRCm39) |
C558Y |
probably damaging |
Het |
| Vmn2r37 |
G |
T |
7: 9,220,850 (GRCm39) |
Q338K |
probably damaging |
Het |
| Yod1 |
T |
C |
1: 130,646,885 (GRCm39) |
V254A |
probably damaging |
Het |
| Zfpm2 |
T |
C |
15: 40,962,793 (GRCm39) |
S152P |
probably benign |
Het |
| Zmym2 |
T |
A |
14: 57,140,461 (GRCm39) |
L100H |
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 |
|
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 |
|
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'- AAGCAGCTCACTCTTCAGATG -3'
(R):5'- GACGATGGAATTCTGTGGTACC -3'
Sequencing Primer
(F):5'- ACTCTTCAGATGCTGAGCAG -3'
(R):5'- TGGTACCTGAGAGTGAGGACCC -3'
|
| Posted On |
2018-05-24 |
Incidental Mutation