Incidental Mutation 'R3777:Erp27'
| ID |
271833 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Erp27
|
| Ensembl Gene |
ENSMUSG00000030219 |
| Gene Name |
endoplasmic reticulum protein 27 |
| Synonyms |
1810047B09Rik, 1810033M07Rik |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.165)
|
| Stock # |
R3777 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
6 |
| Chromosomal Location |
136884309-136899178 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 136896901 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Asparagine to Lysine
at position 100
(N100K)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000032343
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000032343]
[ENSMUST00000032344]
[ENSMUST00000111891]
[ENSMUST00000111892]
[ENSMUST00000204627]
[ENSMUST00000204934]
|
| AlphaFold |
Q9D8U3 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000032343
AA Change: N100K
PolyPhen 2
Score 0.674 (Sensitivity: 0.86; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000032343
Gene: ENSMUSG00000030219
AA Change: N100K
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
25 |
N/A |
INTRINSIC |
|
low complexity region
|
48 |
61 |
N/A |
INTRINSIC |
|
Pfam:Thioredoxin_6
|
64 |
251 |
2.8e-43 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000032344
|
| SMART Domains |
Protein: ENSMUSP00000032344
Gene: ENSMUSG00000030220
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Rho_GDI
|
1 |
197 |
4e-94 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000111891
|
| SMART Domains |
Protein: ENSMUSP00000107522
Gene: ENSMUSG00000030220
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Rho_GDI
|
6 |
197 |
5.3e-79 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000111892
|
| SMART Domains |
Protein: ENSMUSP00000107523
Gene: ENSMUSG00000030220
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Rho_GDI
|
1 |
197 |
4e-94 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000162243
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000162755
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000204627
|
| SMART Domains |
Protein: ENSMUSP00000145191
Gene: ENSMUSG00000064330
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:PDE6_gamma
|
2 |
74 |
1.5e-41 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000204934
|
| SMART Domains |
Protein: ENSMUSP00000145103
Gene: ENSMUSG00000030220
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Rho_GDI
|
1 |
89 |
1.5e-38 |
PFAM |
|
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.2%
- 20x: 94.7%
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a noncatalytic member of the protein disulfide isomerase (PDI) family of endoplasmic reticulum (ER) proteins. The canonical protein has an N-terminal signal sequence, two thioredoxin (TRX)-like domains and a C-terminal ER-retention sequence. Alternative splicing results in multiple transcript variants encoding distinct isoforms; some of which lack domains present in the canonical protein. [provided by RefSeq, Dec 2016]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 46 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Dsg1b |
G |
A |
18: 20,532,644 (GRCm39) |
V563I |
probably damaging |
Het |
| Elovl4 |
ACT |
A |
9: 83,667,201 (GRCm39) |
|
probably null |
Het |
| Fam171b |
T |
A |
2: 83,708,605 (GRCm39) |
I369K |
probably benign |
Het |
| Fmn1 |
A |
G |
2: 113,195,467 (GRCm39) |
E389G |
unknown |
Het |
| Gm14569 |
T |
A |
X: 35,696,085 (GRCm39) |
M875L |
probably benign |
Het |
| Gm5819 |
A |
G |
18: 8,694,429 (GRCm39) |
E118G |
probably damaging |
Het |
| Grip1 |
G |
A |
10: 119,821,535 (GRCm39) |
|
probably null |
Het |
| Heatr1 |
C |
A |
13: 12,428,229 (GRCm39) |
L789I |
possibly damaging |
Het |
| Hsd17b1 |
T |
C |
11: 100,969,529 (GRCm39) |
S59P |
probably damaging |
Het |
| Ighv1-72 |
A |
T |
12: 115,721,636 (GRCm39) |
S107T |
probably damaging |
Het |
| Inpp4b |
T |
A |
8: 82,768,621 (GRCm39) |
V710D |
possibly damaging |
Het |
| Kcnd3 |
C |
T |
3: 105,566,082 (GRCm39) |
A421V |
probably damaging |
Het |
| Larp4 |
T |
A |
15: 99,888,238 (GRCm39) |
W92R |
probably damaging |
Het |
| Man2b2 |
T |
C |
5: 36,972,871 (GRCm39) |
N548D |
probably benign |
Het |
| Mfsd4b2 |
A |
G |
10: 39,797,527 (GRCm39) |
I276T |
possibly damaging |
Het |
| Mki67 |
A |
C |
7: 135,297,859 (GRCm39) |
S2392A |
probably benign |
Het |
| Myl12a |
G |
T |
17: 71,301,631 (GRCm39) |
H165Q |
possibly damaging |
Het |
| Myo18b |
T |
A |
5: 112,905,462 (GRCm39) |
E2045D |
probably damaging |
Het |
| Mypn |
T |
C |
10: 62,983,761 (GRCm39) |
T496A |
possibly damaging |
Het |
| Ncoa7 |
A |
G |
10: 30,565,752 (GRCm39) |
Y632H |
probably damaging |
Het |
| Or13c3 |
A |
T |
4: 52,855,636 (GRCm39) |
N292K |
probably damaging |
Het |
| Or2d4 |
A |
T |
7: 106,543,519 (GRCm39) |
S230T |
probably benign |
Het |
| Or4b13 |
T |
C |
2: 90,082,969 (GRCm39) |
Y121C |
probably damaging |
Het |
| Or5p52 |
C |
A |
7: 107,501,954 (GRCm39) |
A10E |
probably benign |
Het |
| Or8g33 |
A |
T |
9: 39,337,901 (GRCm39) |
S155R |
possibly damaging |
Het |
| Pik3c2g |
A |
T |
6: 139,599,385 (GRCm39) |
Y167F |
probably damaging |
Het |
| Pik3cg |
A |
C |
12: 32,244,708 (GRCm39) |
C915W |
probably damaging |
Het |
| Ppfibp2 |
A |
G |
7: 107,328,396 (GRCm39) |
T476A |
probably benign |
Het |
| Rapgef1 |
C |
T |
2: 29,609,701 (GRCm39) |
H675Y |
possibly damaging |
Het |
| Rpn2 |
T |
A |
2: 157,141,477 (GRCm39) |
V263D |
probably damaging |
Het |
| Rps13 |
A |
G |
7: 115,933,160 (GRCm39) |
L16P |
probably damaging |
Het |
| Rsph14 |
C |
G |
10: 74,793,419 (GRCm39) |
Q360H |
possibly damaging |
Het |
| Rsph14 |
T |
G |
10: 74,793,420 (GRCm39) |
Q360P |
possibly damaging |
Het |
| Semp2l2b |
T |
C |
10: 21,942,861 (GRCm39) |
E373G |
probably damaging |
Het |
| Smarcc2 |
G |
A |
10: 128,318,812 (GRCm39) |
|
probably null |
Het |
| Sp8 |
G |
T |
12: 118,812,750 (GRCm39) |
V202L |
possibly damaging |
Het |
| Spag9 |
G |
A |
11: 93,989,852 (GRCm39) |
|
probably null |
Het |
| Svil |
A |
G |
18: 5,090,855 (GRCm39) |
N915S |
probably damaging |
Het |
| Syt17 |
A |
G |
7: 118,033,180 (GRCm39) |
L215P |
probably damaging |
Het |
| Tle6 |
G |
T |
10: 81,431,987 (GRCm39) |
P86T |
probably benign |
Het |
| Tph2 |
T |
C |
10: 114,915,910 (GRCm39) |
D421G |
probably benign |
Het |
| Trpm2 |
A |
C |
10: 77,771,824 (GRCm39) |
L605R |
probably benign |
Het |
| Vat1l |
T |
C |
8: 114,963,540 (GRCm39) |
|
probably null |
Het |
| Vdac3 |
T |
C |
8: 23,070,525 (GRCm39) |
N128D |
probably benign |
Het |
| Vegfb |
G |
A |
19: 6,964,767 (GRCm39) |
|
probably benign |
Het |
| Zfp808 |
T |
A |
13: 62,319,717 (GRCm39) |
N315K |
probably damaging |
Het |
|
| Other mutations in Erp27 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00159:Erp27
|
APN |
6 |
136,886,500 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01976:Erp27
|
APN |
6 |
136,896,987 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL02348:Erp27
|
APN |
6 |
136,888,544 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0452:Erp27
|
UTSW |
6 |
136,886,487 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0498:Erp27
|
UTSW |
6 |
136,896,862 (GRCm39) |
unclassified |
probably benign |
|
|
R2055:Erp27
|
UTSW |
6 |
136,885,227 (GRCm39) |
splice site |
probably benign |
|
|
R3778:Erp27
|
UTSW |
6 |
136,896,901 (GRCm39) |
missense |
possibly damaging |
0.67 |
|
R4603:Erp27
|
UTSW |
6 |
136,896,947 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R4667:Erp27
|
UTSW |
6 |
136,885,150 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R4668:Erp27
|
UTSW |
6 |
136,885,150 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R5753:Erp27
|
UTSW |
6 |
136,896,875 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5814:Erp27
|
UTSW |
6 |
136,888,564 (GRCm39) |
missense |
possibly damaging |
0.48 |
|
R5864:Erp27
|
UTSW |
6 |
136,885,098 (GRCm39) |
missense |
probably benign |
0.09 |
|
R6029:Erp27
|
UTSW |
6 |
136,888,609 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R6131:Erp27
|
UTSW |
6 |
136,885,201 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7974:Erp27
|
UTSW |
6 |
136,885,063 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8781:Erp27
|
UTSW |
6 |
136,886,458 (GRCm39) |
nonsense |
probably null |
|
|
R9339:Erp27
|
UTSW |
6 |
136,896,945 (GRCm39) |
missense |
probably benign |
0.01 |
|
R9485:Erp27
|
UTSW |
6 |
136,886,548 (GRCm39) |
missense |
possibly damaging |
0.61 |
|
R9516:Erp27
|
UTSW |
6 |
136,885,066 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9526:Erp27
|
UTSW |
6 |
136,886,550 (GRCm39) |
missense |
probably benign |
0.43 |
|
Z1177:Erp27
|
UTSW |
6 |
136,888,644 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
| Predicted Primers |
PCR Primer
(F):5'- AGCCTGAACTGAGTCACTCTC -3'
(R):5'- AATATTCTCACAGAGCCTGGGAC -3'
Sequencing Primer
(F):5'- GAGTCACTCTCCTGGTCAACAATG -3'
(R):5'- CACTGCAAGTATAGCCTGCATGTG -3'
|
| Posted On |
2015-03-25 |
Incidental Mutation