Incidental Mutation 'R6681:Sec61a2'
| ID |
527480 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Sec61a2
|
| Ensembl Gene |
ENSMUSG00000025816 |
| Gene Name |
SEC61 translocon subunit alpha 2 |
| Synonyms |
|
| MMRRC Submission |
044800-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.311)
|
| Stock # |
R6681 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
2 |
| Chromosomal Location |
5875798-5900243 bp(-) (GRCm39) |
| Type of Mutation |
nonsense |
| DNA Base Change (assembly) |
G to A
at 5881219 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Stop codon
at position 18
(R18*)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000026926]
[ENSMUST00000026927]
[ENSMUST00000102981]
[ENSMUST00000193792]
|
| AlphaFold |
Q9JLR1 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000026926
|
| SMART Domains |
Protein: ENSMUSP00000026926
Gene: ENSMUSG00000025816
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Plug_translocon
|
40 |
74 |
6.9e-24 |
PFAM |
|
Pfam:SecY
|
75 |
162 |
1.2e-20 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000026927
|
| SMART Domains |
Protein: ENSMUSP00000026927
Gene: ENSMUSG00000025817
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:NUDIX
|
57 |
191 |
1.1e-20 |
PFAM |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000102981
AA Change: R311*
|
| SMART Domains |
Protein: ENSMUSP00000100046
Gene: ENSMUSG00000025816
AA Change: R311*
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Plug_translocon
|
40 |
74 |
6.2e-21 |
PFAM |
|
Pfam:SecY
|
75 |
458 |
1e-79 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000124859
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000124985
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000132469
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000132908
AA Change: R18*
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000193792
|
| SMART Domains |
Protein: ENSMUSP00000141333
Gene: ENSMUSG00000025816
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Plug_translocon
|
40 |
74 |
4e-22 |
PFAM |
|
Pfam:SecY
|
75 |
263 |
5.3e-44 |
PFAM |
|
Pfam:SecY
|
261 |
393 |
1.6e-34 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000148745
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000153240
|
| Meta Mutation Damage Score |
0.9755 |
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 98.4%
- 20x: 95.6%
|
| Validation Efficiency |
98% (45/46) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene has similarity to a mouse protein which suggests a role in the insertion of secretory and membrane polypeptides into the endoplasmic reticulum. It may also be required for the assembly of membrane and secretory proteins. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2008]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 46 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca4 |
A |
T |
3: 121,915,447 (GRCm39) |
T971S |
probably damaging |
Het |
| Catsperb |
C |
T |
12: 101,590,994 (GRCm39) |
Q1021* |
probably null |
Het |
| Ccdc62 |
A |
G |
5: 124,072,156 (GRCm39) |
T62A |
probably benign |
Het |
| Cuzd1 |
A |
G |
7: 130,913,412 (GRCm39) |
S402P |
probably damaging |
Het |
| Dcun1d1 |
C |
T |
3: 35,949,819 (GRCm39) |
V244M |
probably damaging |
Het |
| Dennd2c |
A |
G |
3: 103,038,977 (GRCm39) |
T42A |
probably benign |
Het |
| Dnah7a |
T |
C |
1: 53,560,385 (GRCm39) |
|
probably null |
Het |
| Dnase1l1 |
C |
T |
X: 73,320,644 (GRCm39) |
|
probably null |
Homo |
| Dpp4 |
A |
T |
2: 62,178,893 (GRCm39) |
F607L |
probably benign |
Het |
| Ech1 |
C |
T |
7: 28,529,763 (GRCm39) |
|
probably null |
Het |
| Fam53a |
A |
G |
5: 33,765,184 (GRCm39) |
L174P |
probably damaging |
Het |
| Fh1 |
T |
C |
1: 175,446,690 (GRCm39) |
D62G |
probably null |
Het |
| Gpatch11 |
T |
C |
17: 79,147,528 (GRCm39) |
I103T |
probably damaging |
Het |
| Hmgcll1 |
A |
T |
9: 75,988,731 (GRCm39) |
T169S |
probably benign |
Het |
| Kbtbd3 |
A |
T |
9: 4,330,687 (GRCm39) |
I354F |
probably benign |
Het |
| Kdm5b |
T |
C |
1: 134,541,007 (GRCm39) |
F700L |
possibly damaging |
Het |
| Mamdc4 |
C |
A |
2: 25,457,756 (GRCm39) |
G439V |
probably damaging |
Het |
| Mrps30 |
A |
T |
13: 118,517,134 (GRCm39) |
S362T |
probably damaging |
Het |
| Mug1 |
C |
T |
6: 121,815,683 (GRCm39) |
S29L |
possibly damaging |
Het |
| Myh2 |
G |
A |
11: 67,069,174 (GRCm39) |
D328N |
probably damaging |
Het |
| Or10j3b |
C |
A |
1: 173,043,973 (GRCm39) |
H252N |
probably damaging |
Het |
| Or5b98 |
A |
G |
19: 12,931,823 (GRCm39) |
Y290C |
probably damaging |
Het |
| Or5j1 |
T |
C |
2: 86,878,942 (GRCm39) |
T213A |
probably benign |
Het |
| Or8g54 |
T |
A |
9: 39,706,710 (GRCm39) |
I13N |
probably benign |
Het |
| Otx1 |
C |
A |
11: 21,947,037 (GRCm39) |
A91S |
probably damaging |
Het |
| Pira13 |
T |
A |
7: 3,825,251 (GRCm39) |
M464L |
probably benign |
Het |
| Pus7l |
G |
A |
15: 94,425,746 (GRCm39) |
P552S |
probably benign |
Het |
| Rest |
A |
G |
5: 77,428,844 (GRCm39) |
K421R |
probably damaging |
Het |
| Rttn |
C |
A |
18: 89,032,735 (GRCm39) |
H668N |
probably damaging |
Het |
| Scn9a |
T |
C |
2: 66,393,686 (GRCm39) |
I228V |
possibly damaging |
Het |
| Scp2 |
G |
T |
4: 107,948,513 (GRCm39) |
Q155K |
probably damaging |
Het |
| Serpinb8 |
T |
A |
1: 107,525,321 (GRCm39) |
M41K |
probably damaging |
Het |
| Sgsm2 |
A |
T |
11: 74,756,204 (GRCm39) |
W382R |
probably damaging |
Het |
| Slc26a10 |
G |
T |
10: 127,009,530 (GRCm39) |
T606N |
possibly damaging |
Het |
| Slc30a6 |
T |
C |
17: 74,711,027 (GRCm39) |
I40T |
possibly damaging |
Het |
| Slfn5 |
G |
A |
11: 82,847,204 (GRCm39) |
E30K |
possibly damaging |
Het |
| Sorcs2 |
C |
A |
5: 36,555,154 (GRCm39) |
R79L |
probably benign |
Het |
| Tmc5 |
G |
A |
7: 118,268,527 (GRCm39) |
S865N |
probably damaging |
Het |
| Tmprss11c |
T |
A |
5: 86,437,119 (GRCm39) |
M1L |
possibly damaging |
Het |
| Trpv5 |
C |
G |
6: 41,630,288 (GRCm39) |
E601Q |
probably damaging |
Het |
| Ttc39b |
A |
T |
4: 83,158,285 (GRCm39) |
|
probably benign |
Het |
| Ttll6 |
T |
A |
11: 96,029,689 (GRCm39) |
C201S |
probably damaging |
Het |
| Vezt |
A |
G |
10: 93,832,859 (GRCm39) |
V204A |
probably benign |
Het |
| Vmn1r45 |
T |
A |
6: 89,910,985 (GRCm39) |
|
probably benign |
Het |
| Zfp433 |
A |
T |
10: 81,556,722 (GRCm39) |
H408L |
probably damaging |
Het |
| Zfp865 |
T |
C |
7: 5,032,450 (GRCm39) |
I145T |
possibly damaging |
Het |
|
| Other mutations in Sec61a2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00979:Sec61a2
|
APN |
2 |
5,876,831 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
IGL01690:Sec61a2
|
APN |
2 |
5,891,363 (GRCm39) |
missense |
possibly damaging |
0.57 |
|
IGL01999:Sec61a2
|
APN |
2 |
5,896,174 (GRCm39) |
splice site |
probably benign |
|
|
IGL02608:Sec61a2
|
APN |
2 |
5,879,073 (GRCm39) |
missense |
probably benign |
0.01 |
|
IGL03131:Sec61a2
|
APN |
2 |
5,887,689 (GRCm39) |
nonsense |
probably null |
|
|
IGL03271:Sec61a2
|
APN |
2 |
5,887,745 (GRCm39) |
nonsense |
probably null |
|
|
IGL03294:Sec61a2
|
APN |
2 |
5,881,276 (GRCm39) |
splice site |
probably null |
|
|
R0413:Sec61a2
|
UTSW |
2 |
5,881,165 (GRCm39) |
intron |
probably benign |
|
|
R0742:Sec61a2
|
UTSW |
2 |
5,881,359 (GRCm39) |
missense |
probably benign |
0.01 |
|
R1659:Sec61a2
|
UTSW |
2 |
5,891,345 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R1929:Sec61a2
|
UTSW |
2 |
5,878,547 (GRCm39) |
splice site |
probably benign |
|
|
R2680:Sec61a2
|
UTSW |
2 |
5,878,556 (GRCm39) |
missense |
probably benign |
0.00 |
|
R3522:Sec61a2
|
UTSW |
2 |
5,898,027 (GRCm39) |
missense |
probably benign |
0.00 |
|
R3788:Sec61a2
|
UTSW |
2 |
5,884,436 (GRCm39) |
splice site |
probably null |
|
|
R4405:Sec61a2
|
UTSW |
2 |
5,887,670 (GRCm39) |
missense |
probably benign |
0.40 |
|
R4660:Sec61a2
|
UTSW |
2 |
5,878,504 (GRCm39) |
intron |
probably benign |
|
|
R5387:Sec61a2
|
UTSW |
2 |
5,887,356 (GRCm39) |
intron |
probably benign |
|
|
R5530:Sec61a2
|
UTSW |
2 |
5,887,461 (GRCm39) |
nonsense |
probably null |
|
|
R5546:Sec61a2
|
UTSW |
2 |
5,881,351 (GRCm39) |
missense |
possibly damaging |
0.78 |
|
R5775:Sec61a2
|
UTSW |
2 |
5,887,585 (GRCm39) |
splice site |
probably null |
|
|
R5922:Sec61a2
|
UTSW |
2 |
5,879,134 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
R5937:Sec61a2
|
UTSW |
2 |
5,891,368 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7499:Sec61a2
|
UTSW |
2 |
5,882,725 (GRCm39) |
missense |
probably benign |
0.37 |
|
R7564:Sec61a2
|
UTSW |
2 |
5,887,415 (GRCm39) |
missense |
probably benign |
|
|
R7947:Sec61a2
|
UTSW |
2 |
5,881,794 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R8208:Sec61a2
|
UTSW |
2 |
5,881,809 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8210:Sec61a2
|
UTSW |
2 |
5,881,728 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R8266:Sec61a2
|
UTSW |
2 |
5,881,650 (GRCm39) |
critical splice donor site |
probably null |
|
|
Z1177:Sec61a2
|
UTSW |
2 |
5,891,376 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- GCTGCTTTATTGCCATTCAGG -3'
(R):5'- CGCACTCTTTGACATGGACC -3'
Sequencing Primer
(F):5'- TCAGCCTGAGTTACAGCATG -3'
(R):5'- ACTCTTTGACATGGACCACCTC -3'
|
| Posted On |
2018-07-23 |
Incidental Mutation