Incidental Mutation 'R0661:Sec11a'
ID |
61838 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Sec11a
|
Ensembl Gene |
ENSMUSG00000025724 |
Gene Name |
SEC11 homolog A, signal peptidase complex subunit |
Synonyms |
1810012E07Rik, 18kDa, Spc18, sid2895, Sec11l1 |
MMRRC Submission |
038846-MU
|
Accession Numbers |
|
Essential gene? |
Possibly essential
(E-score: 0.714)
|
Stock # |
R0661 (G1)
|
Quality Score |
131 |
Status
|
Not validated
|
Chromosome |
7 |
Chromosomal Location |
80565125-80597295 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 80584787 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Valine to Alanine
at position 50
(V50A)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000112944
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000026818]
[ENSMUST00000117383]
[ENSMUST00000119980]
[ENSMUST00000120285]
|
AlphaFold |
Q9R0P6 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000026818
AA Change: V50A
PolyPhen 2
Score 0.409 (Sensitivity: 0.89; Specificity: 0.90)
|
SMART Domains |
Protein: ENSMUSP00000026818 Gene: ENSMUSG00000025724 AA Change: V50A
Domain | Start | End | E-Value | Type |
transmembrane domain
|
21 |
43 |
N/A |
INTRINSIC |
Pfam:Peptidase_S24
|
51 |
120 |
6.2e-13 |
PFAM |
low complexity region
|
166 |
176 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000117383
AA Change: V50A
PolyPhen 2
Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
|
SMART Domains |
Protein: ENSMUSP00000113601 Gene: ENSMUSG00000025724 AA Change: V50A
Domain | Start | End | E-Value | Type |
transmembrane domain
|
21 |
43 |
N/A |
INTRINSIC |
Pfam:Peptidase_S24
|
51 |
112 |
3.1e-12 |
PFAM |
low complexity region
|
177 |
187 |
N/A |
INTRINSIC |
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000119980
AA Change: V50A
PolyPhen 2
Score 0.774 (Sensitivity: 0.85; Specificity: 0.92)
|
SMART Domains |
Protein: ENSMUSP00000112425 Gene: ENSMUSG00000025724 AA Change: V50A
Domain | Start | End | E-Value | Type |
transmembrane domain
|
21 |
43 |
N/A |
INTRINSIC |
Pfam:Peptidase_S24
|
51 |
120 |
2.5e-12 |
PFAM |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000120285
AA Change: V50A
PolyPhen 2
Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
|
SMART Domains |
Protein: ENSMUSP00000112944 Gene: ENSMUSG00000025724 AA Change: V50A
Domain | Start | End | E-Value | Type |
transmembrane domain
|
21 |
43 |
N/A |
INTRINSIC |
Pfam:Peptidase_S24
|
51 |
123 |
8.5e-12 |
PFAM |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000136556
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000147813
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000147881
|
Meta Mutation Damage Score |
0.5930 |
Coding Region Coverage |
- 1x: 99.4%
- 3x: 98.9%
- 10x: 97.5%
- 20x: 95.0%
|
Validation Efficiency |
|
MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the peptidase S26B family. The encoded protein is an 18kDa subunit of the signal peptidase complex and has been linked to cell migration and invasion, gastric cancer and lymph node metastasis. Alternative splicing results in multiple transcript variants. A related pseudogene has been identified on chromosome 8. [provided by RefSeq, Dec 2012]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 41 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Agtr1b |
T |
A |
3: 20,370,163 (GRCm39) |
T148S |
possibly damaging |
Het |
Anks3 |
A |
G |
16: 4,766,198 (GRCm39) |
F124L |
probably damaging |
Het |
Ar |
T |
A |
X: 97,194,171 (GRCm39) |
Y262N |
probably damaging |
Het |
Asxl1 |
T |
A |
2: 153,242,644 (GRCm39) |
S1065T |
possibly damaging |
Het |
Brip1 |
A |
T |
11: 86,001,189 (GRCm39) |
I749N |
possibly damaging |
Het |
C1ra |
T |
A |
6: 124,499,336 (GRCm39) |
H507Q |
probably benign |
Het |
Cdk9 |
G |
A |
2: 32,599,832 (GRCm39) |
T135I |
probably damaging |
Het |
Col1a1 |
A |
G |
11: 94,840,215 (GRCm39) |
T1088A |
unknown |
Het |
Cpne2 |
T |
C |
8: 95,282,667 (GRCm39) |
I283T |
possibly damaging |
Het |
Dcaf17 |
T |
C |
2: 70,918,779 (GRCm39) |
L451P |
probably damaging |
Het |
Dhx57 |
C |
T |
17: 80,576,293 (GRCm39) |
C599Y |
probably damaging |
Het |
Drd1 |
T |
A |
13: 54,207,057 (GRCm39) |
N379Y |
possibly damaging |
Het |
Fsip2 |
A |
G |
2: 82,816,513 (GRCm39) |
D4082G |
possibly damaging |
Het |
Grin2a |
G |
T |
16: 9,810,336 (GRCm39) |
P21Q |
probably damaging |
Het |
Heyl |
G |
T |
4: 123,139,824 (GRCm39) |
V128F |
probably damaging |
Het |
Hoxd12 |
A |
G |
2: 74,506,236 (GRCm39) |
E216G |
probably damaging |
Het |
Inpp4b |
C |
A |
8: 82,468,091 (GRCm39) |
A18E |
possibly damaging |
Het |
Invs |
G |
A |
4: 48,421,861 (GRCm39) |
R831H |
probably benign |
Het |
Lrrk2 |
T |
C |
15: 91,671,219 (GRCm39) |
V2000A |
probably damaging |
Het |
Msh3 |
T |
C |
13: 92,481,604 (GRCm39) |
N303D |
possibly damaging |
Het |
Or11g27 |
A |
G |
14: 50,771,552 (GRCm39) |
T228A |
probably benign |
Het |
Or5an9 |
T |
C |
19: 12,187,068 (GRCm39) |
L46P |
probably damaging |
Het |
Or5b105 |
G |
A |
19: 13,080,642 (GRCm39) |
R3C |
possibly damaging |
Het |
Pcdh18 |
A |
C |
3: 49,707,767 (GRCm39) |
S902R |
possibly damaging |
Het |
Prdm15 |
A |
T |
16: 97,630,882 (GRCm39) |
V190E |
probably benign |
Het |
Ranbp2 |
T |
G |
10: 58,314,555 (GRCm39) |
S1758R |
probably benign |
Het |
Rimbp2 |
A |
G |
5: 128,863,774 (GRCm39) |
V738A |
probably benign |
Het |
Rtl5 |
T |
C |
X: 101,114,056 (GRCm39) |
H138R |
possibly damaging |
Het |
Shroom1 |
T |
C |
11: 53,357,764 (GRCm39) |
S772P |
possibly damaging |
Het |
Slc26a6 |
T |
C |
9: 108,736,312 (GRCm39) |
|
probably null |
Het |
Slf1 |
A |
G |
13: 77,231,715 (GRCm39) |
W555R |
probably benign |
Het |
Spx |
A |
G |
6: 142,359,565 (GRCm39) |
S5G |
possibly damaging |
Het |
Tcp1 |
T |
C |
17: 13,142,200 (GRCm39) |
V398A |
probably benign |
Het |
Tm6sf1 |
G |
A |
7: 81,515,093 (GRCm39) |
|
probably null |
Het |
Tsbp1 |
A |
T |
17: 34,678,887 (GRCm39) |
I217F |
possibly damaging |
Het |
Ufsp2 |
T |
A |
8: 46,432,270 (GRCm39) |
M1K |
probably null |
Het |
Usf1 |
G |
A |
1: 171,245,067 (GRCm39) |
R196Q |
probably damaging |
Het |
Vmn2r75 |
G |
A |
7: 85,814,866 (GRCm39) |
A209V |
probably benign |
Het |
Yme1l1 |
T |
A |
2: 23,081,054 (GRCm39) |
M442K |
probably damaging |
Het |
Zfand3 |
A |
G |
17: 30,354,372 (GRCm39) |
E63G |
probably damaging |
Het |
Zfp740 |
A |
G |
15: 102,121,094 (GRCm39) |
T136A |
possibly damaging |
Het |
|
Other mutations in Sec11a |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01933:Sec11a
|
APN |
7 |
80,584,810 (GRCm39) |
missense |
probably benign |
0.21 |
R0083:Sec11a
|
UTSW |
7 |
80,584,787 (GRCm39) |
missense |
probably damaging |
1.00 |
R0108:Sec11a
|
UTSW |
7 |
80,584,787 (GRCm39) |
missense |
probably damaging |
1.00 |
R1511:Sec11a
|
UTSW |
7 |
80,577,482 (GRCm39) |
splice site |
probably null |
|
R1704:Sec11a
|
UTSW |
7 |
80,584,848 (GRCm39) |
missense |
possibly damaging |
0.47 |
R4209:Sec11a
|
UTSW |
7 |
80,584,790 (GRCm39) |
missense |
probably damaging |
1.00 |
R5135:Sec11a
|
UTSW |
7 |
80,572,812 (GRCm39) |
intron |
probably benign |
|
R6362:Sec11a
|
UTSW |
7 |
80,572,879 (GRCm39) |
missense |
probably benign |
0.02 |
R8799:Sec11a
|
UTSW |
7 |
80,584,850 (GRCm39) |
missense |
possibly damaging |
0.95 |
R9222:Sec11a
|
UTSW |
7 |
80,565,634 (GRCm39) |
missense |
probably damaging |
1.00 |
R9346:Sec11a
|
UTSW |
7 |
80,557,760 (GRCm39) |
missense |
unknown |
|
R9589:Sec11a
|
UTSW |
7 |
80,565,899 (GRCm39) |
makesense |
probably null |
|
|
Predicted Primers |
PCR Primer
(F):5'- GGCCTGATATACCAAACACAGGAATGC -3'
(R):5'- TCATTTCCTTCCCTGGGTGAGGATAG -3'
Sequencing Primer
(F):5'- acacacaaacacactgacac -3'
(R):5'- ATAGTGGTGGATCTGATTTCTTCTC -3'
|
Posted On |
2013-07-30 |