Incidental Mutation 'R2902:Emc10'
| ID |
261500 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Emc10
|
| Ensembl Gene |
ENSMUSG00000008140 |
| Gene Name |
ER membrane protein complex subunit 10 |
| Synonyms |
5430410O10Rik, 2310044H10Rik, Mirta22 |
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R2902 (G1)
|
| Quality Score |
209 |
|
Status
|
Not validated
|
| Chromosome |
7 |
| Chromosomal Location |
44139361-44145953 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 44142616 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Tryptophan
at position 109
(R109W)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000116293
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000107927]
[ENSMUST00000118515]
[ENSMUST00000118808]
[ENSMUST00000138328]
[ENSMUST00000205359]
[ENSMUST00000205422]
[ENSMUST00000206398]
|
| AlphaFold |
Q3TAS6 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000008284
AA Change: R109W
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000008284
Gene: ENSMUSG00000008140
AA Change: R109W
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
37 |
N/A |
INTRINSIC |
|
low complexity region
|
160 |
177 |
N/A |
INTRINSIC |
|
transmembrane domain
|
231 |
253 |
N/A |
INTRINSIC |
|
low complexity region
|
256 |
265 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000107927
|
| SMART Domains |
Protein: ENSMUSP00000103560
Gene: ENSMUSG00000051113
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
70 |
85 |
N/A |
INTRINSIC |
|
Pfam:DUF3699
|
91 |
160 |
5.6e-20 |
PFAM |
|
coiled coil region
|
164 |
191 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000118515
AA Change: R109W
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000113141
Gene: ENSMUSG00000008140
AA Change: R109W
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
27 |
N/A |
INTRINSIC |
|
low complexity region
|
150 |
167 |
N/A |
INTRINSIC |
|
low complexity region
|
239 |
251 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000118808
AA Change: R109W
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000113509
Gene: ENSMUSG00000008140
AA Change: R109W
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
27 |
N/A |
INTRINSIC |
|
low complexity region
|
150 |
167 |
N/A |
INTRINSIC |
|
transmembrane domain
|
221 |
243 |
N/A |
INTRINSIC |
|
low complexity region
|
246 |
255 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000123928
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000138328
AA Change: R109W
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000116293
Gene: ENSMUSG00000008140
AA Change: R109W
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
27 |
N/A |
INTRINSIC |
|
low complexity region
|
154 |
171 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000147102
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000150342
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000205819
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000206033
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000205359
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000205422
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000206195
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000206398
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000206965
|
| Meta Mutation Damage Score |
0.3049 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.7%
- 10x: 97.5%
- 20x: 95.8%
|
| Validation Efficiency |
|
| MGI Phenotype |
PHENOTYPE: Male mice homozygous for a gene trapped allele display improved glucose tolerance and reduced fertility, while female homozygotes exhibit an increased anxiety-related response. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 45 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Apobec2 |
T |
C |
17: 48,730,409 (GRCm39) |
T86A |
probably benign |
Het |
| C1qtnf1 |
A |
G |
11: 118,338,930 (GRCm39) |
|
probably null |
Het |
| Cacng3 |
A |
G |
7: 122,353,750 (GRCm39) |
K78R |
possibly damaging |
Het |
| Cep68 |
A |
G |
11: 20,190,187 (GRCm39) |
L275P |
probably damaging |
Het |
| Chrm4 |
A |
G |
2: 91,758,302 (GRCm39) |
K237E |
probably benign |
Het |
| Clvs1 |
A |
G |
4: 9,281,972 (GRCm39) |
K139E |
probably damaging |
Het |
| Col25a1 |
A |
T |
3: 130,340,040 (GRCm39) |
E351V |
probably damaging |
Het |
| Cyp4f18 |
A |
T |
8: 72,756,255 (GRCm39) |
I107N |
probably damaging |
Het |
| Dagla |
A |
G |
19: 10,225,467 (GRCm39) |
L899P |
probably damaging |
Het |
| Dnah3 |
T |
C |
7: 119,550,722 (GRCm39) |
K3199R |
possibly damaging |
Het |
| Ecpas |
G |
A |
4: 58,809,691 (GRCm39) |
T1592M |
probably benign |
Het |
| Fam186a |
G |
T |
15: 99,843,049 (GRCm39) |
T1065K |
possibly damaging |
Het |
| Ferd3l |
T |
G |
12: 33,978,952 (GRCm39) |
M155R |
probably damaging |
Het |
| Fgd4 |
A |
G |
16: 16,243,729 (GRCm39) |
Y602H |
probably damaging |
Het |
| Gldn |
T |
C |
9: 54,243,098 (GRCm39) |
L360P |
possibly damaging |
Het |
| Gm9920 |
C |
A |
15: 54,975,867 (GRCm39) |
|
probably benign |
Het |
| Inhbc |
T |
C |
10: 127,193,621 (GRCm39) |
T132A |
probably benign |
Het |
| Krt23 |
T |
C |
11: 99,374,797 (GRCm39) |
D260G |
probably damaging |
Het |
| Lrch3 |
G |
A |
16: 32,770,766 (GRCm39) |
A123T |
probably damaging |
Het |
| Mark2 |
A |
T |
19: 7,260,813 (GRCm39) |
S408T |
probably benign |
Het |
| Nme8 |
A |
T |
13: 19,859,834 (GRCm39) |
V23E |
probably benign |
Het |
| Nod2 |
A |
T |
8: 89,402,091 (GRCm39) |
I912F |
probably damaging |
Het |
| Nxpe4 |
A |
G |
9: 48,305,446 (GRCm39) |
I279V |
probably benign |
Het |
| Oas3 |
A |
G |
5: 120,896,982 (GRCm39) |
F880L |
probably damaging |
Het |
| Or5ak23 |
C |
T |
2: 85,244,396 (GRCm39) |
V276M |
possibly damaging |
Het |
| Or6c6c |
A |
G |
10: 129,541,320 (GRCm39) |
H191R |
probably benign |
Het |
| Or8c11 |
T |
A |
9: 38,289,337 (GRCm39) |
N53K |
possibly damaging |
Het |
| Pcnt |
C |
T |
10: 76,211,064 (GRCm39) |
R2371H |
probably damaging |
Het |
| Prex2 |
A |
T |
1: 11,278,838 (GRCm39) |
N1389I |
possibly damaging |
Het |
| Prf1 |
A |
T |
10: 61,136,098 (GRCm39) |
N125Y |
probably damaging |
Het |
| Prr12 |
C |
T |
7: 44,697,036 (GRCm39) |
G960R |
unknown |
Het |
| Rap1b |
A |
G |
10: 117,660,507 (GRCm39) |
S17P |
probably damaging |
Het |
| Rhot2 |
G |
T |
17: 26,062,950 (GRCm39) |
Q63K |
probably damaging |
Het |
| Rnpepl1 |
C |
T |
1: 92,844,102 (GRCm39) |
L278F |
probably damaging |
Het |
| Slco1a6 |
A |
G |
6: 142,042,046 (GRCm39) |
L510P |
probably damaging |
Het |
| Ssc4d |
G |
A |
5: 135,993,517 (GRCm39) |
P113L |
possibly damaging |
Het |
| Sv2a |
A |
T |
3: 96,101,072 (GRCm39) |
N690I |
possibly damaging |
Het |
| Tbc1d24 |
T |
C |
17: 24,426,220 (GRCm39) |
Y452C |
probably benign |
Het |
| Tmem132d |
G |
T |
5: 127,860,832 (GRCm39) |
H1096Q |
probably benign |
Het |
| Tmem82 |
C |
A |
4: 141,343,775 (GRCm39) |
G165V |
probably benign |
Het |
| Tpo |
T |
A |
12: 30,169,448 (GRCm39) |
T96S |
possibly damaging |
Het |
| Triobp |
A |
G |
15: 78,857,618 (GRCm39) |
E1073G |
possibly damaging |
Het |
| Tspoap1 |
C |
T |
11: 87,668,801 (GRCm39) |
P1358L |
probably benign |
Het |
| Usp47 |
A |
G |
7: 111,692,658 (GRCm39) |
Y1020C |
probably damaging |
Het |
| Washc4 |
C |
A |
10: 83,390,627 (GRCm39) |
Y153* |
probably null |
Het |
|
| Other mutations in Emc10 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL03102:Emc10
|
APN |
7 |
44,141,413 (GRCm39) |
missense |
probably damaging |
1.00 |
|
PIT4151001:Emc10
|
UTSW |
7 |
44,142,627 (GRCm39) |
missense |
|
|
|
R2016:Emc10
|
UTSW |
7 |
44,142,616 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2210:Emc10
|
UTSW |
7 |
44,142,616 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2211:Emc10
|
UTSW |
7 |
44,142,616 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3104:Emc10
|
UTSW |
7 |
44,142,616 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3106:Emc10
|
UTSW |
7 |
44,142,616 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4840:Emc10
|
UTSW |
7 |
44,142,051 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4967:Emc10
|
UTSW |
7 |
44,142,612 (GRCm39) |
critical splice donor site |
probably null |
|
|
R5294:Emc10
|
UTSW |
7 |
44,145,863 (GRCm39) |
unclassified |
probably benign |
|
|
R8269:Emc10
|
UTSW |
7 |
44,141,408 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R8514:Emc10
|
UTSW |
7 |
44,142,646 (GRCm39) |
missense |
probably damaging |
0.99 |
|
| Predicted Primers |
PCR Primer
(F):5'- GCAAACCACGTTTCCCTGAC -3'
(R):5'- AGTCAGGCACTTGTGACAGC -3'
Sequencing Primer
(F):5'- TCCCTCAAACTGGGCAGAAG -3'
(R):5'- ACTTGTGACAGCTAGGCCTG -3'
|
| Posted On |
2015-01-23 |
Incidental Mutation