Incidental Mutation 'IGL02899:Elmod2'
| ID |
363525 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Elmod2
|
| Ensembl Gene |
ENSMUSG00000035151 |
| Gene Name |
ELMO/CED-12 domain containing 2 |
| Synonyms |
9830169G11Rik |
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
IGL02899
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
8 |
| Chromosomal Location |
84039261-84059115 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 84043562 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Histidine
at position 202
(Y202H)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000137044
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000053902]
[ENSMUST00000139041]
[ENSMUST00000177594]
|
| AlphaFold |
Q8BGF6 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000053902
AA Change: Y202H
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000052287
Gene: ENSMUSG00000035151
AA Change: Y202H
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:ELMO_CED12
|
107 |
272 |
2.1e-51 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000139041
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000150124
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000177594
AA Change: Y202H
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000137044
Gene: ENSMUSG00000035151
AA Change: Y202H
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:ELMO_CED12
|
110 |
271 |
1.6e-54 |
PFAM |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes one of six engulfment and motility (ELMO) domain-containing proteins. This gene is thought to play a role in antiviral responses. Mutations in this gene may be involved in the cause of familial idiopathic pulmonary fibrosis. [provided by RefSeq, Sep 2010]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 37 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Arfgef2 |
A |
G |
2: 166,710,971 (GRCm39) |
|
probably benign |
Het |
| Btbd7 |
A |
G |
12: 102,803,921 (GRCm39) |
L373P |
probably damaging |
Het |
| Capn3 |
A |
G |
2: 120,322,382 (GRCm39) |
N414S |
possibly damaging |
Het |
| Ccdc186 |
A |
T |
19: 56,781,920 (GRCm39) |
I753N |
probably benign |
Het |
| Ccser2 |
G |
A |
14: 36,662,716 (GRCm39) |
T156I |
probably benign |
Het |
| Celsr1 |
A |
G |
15: 85,915,927 (GRCm39) |
M682T |
probably damaging |
Het |
| Cep97 |
C |
A |
16: 55,738,903 (GRCm39) |
S267I |
probably damaging |
Het |
| Dhx35 |
A |
G |
2: 158,643,370 (GRCm39) |
Y39C |
probably damaging |
Het |
| Dscam |
A |
T |
16: 96,510,447 (GRCm39) |
D937E |
probably damaging |
Het |
| Fyco1 |
T |
C |
9: 123,659,396 (GRCm39) |
N260S |
possibly damaging |
Het |
| Gm5591 |
A |
G |
7: 38,218,842 (GRCm39) |
L677P |
probably damaging |
Het |
| Gmppa |
A |
G |
1: 75,418,474 (GRCm39) |
|
probably null |
Het |
| Hltf |
C |
T |
3: 20,153,981 (GRCm39) |
T639I |
probably damaging |
Het |
| Inhca |
C |
A |
9: 103,154,773 (GRCm39) |
V173L |
probably damaging |
Het |
| Kpnb1 |
T |
C |
11: 97,066,612 (GRCm39) |
Y321C |
probably damaging |
Het |
| Lgr4 |
G |
A |
2: 109,748,598 (GRCm39) |
G45R |
probably damaging |
Het |
| Ltn1 |
T |
C |
16: 87,179,547 (GRCm39) |
D1538G |
probably benign |
Het |
| Maf1 |
T |
A |
15: 76,237,220 (GRCm39) |
|
probably benign |
Het |
| Morn5 |
T |
C |
2: 35,945,049 (GRCm39) |
F91S |
probably damaging |
Het |
| Ncan |
C |
T |
8: 70,567,698 (GRCm39) |
R138H |
possibly damaging |
Het |
| Or10ak7 |
A |
T |
4: 118,791,859 (GRCm39) |
M62K |
probably damaging |
Het |
| Or5ac21 |
G |
T |
16: 59,123,649 (GRCm39) |
L44F |
probably damaging |
Het |
| Parg |
T |
C |
14: 31,960,531 (GRCm39) |
L82S |
probably damaging |
Het |
| Ppp2r2b |
A |
T |
18: 42,778,874 (GRCm39) |
H417Q |
probably damaging |
Het |
| Rb1cc1 |
T |
C |
1: 6,334,807 (GRCm39) |
L98P |
probably damaging |
Het |
| Ryr1 |
C |
A |
7: 28,748,220 (GRCm39) |
V3752L |
possibly damaging |
Het |
| Slc25a12 |
A |
G |
2: 71,109,979 (GRCm39) |
L489P |
probably damaging |
Het |
| Slc38a8 |
C |
T |
8: 120,212,282 (GRCm39) |
V354M |
probably benign |
Het |
| Slf2 |
A |
G |
19: 44,930,459 (GRCm39) |
E512G |
probably benign |
Het |
| Tarbp1 |
A |
G |
8: 127,180,583 (GRCm39) |
M597T |
probably damaging |
Het |
| Tgfb3 |
G |
A |
12: 86,116,550 (GRCm39) |
R163C |
probably damaging |
Het |
| Tmco5b |
A |
G |
2: 113,127,265 (GRCm39) |
M279V |
probably benign |
Het |
| Ttll9 |
G |
A |
2: 152,844,871 (GRCm39) |
G413D |
probably damaging |
Het |
| Tut1 |
A |
G |
19: 8,939,751 (GRCm39) |
D245G |
probably damaging |
Het |
| Usf3 |
T |
A |
16: 44,041,589 (GRCm39) |
V2023E |
probably damaging |
Het |
| Vps33a |
C |
T |
5: 123,669,239 (GRCm39) |
G554D |
probably damaging |
Het |
| Zfp27 |
C |
A |
7: 29,595,680 (GRCm39) |
R95M |
possibly damaging |
Het |
|
| Other mutations in Elmod2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01464:Elmod2
|
APN |
8 |
84,043,421 (GRCm39) |
splice site |
probably benign |
|
|
IGL02040:Elmod2
|
APN |
8 |
84,048,126 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02207:Elmod2
|
APN |
8 |
84,048,135 (GRCm39) |
missense |
probably benign |
0.07 |
|
PIT4418001:Elmod2
|
UTSW |
8 |
84,048,171 (GRCm39) |
missense |
probably benign |
0.09 |
|
R0131:Elmod2
|
UTSW |
8 |
84,046,133 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0827:Elmod2
|
UTSW |
8 |
84,043,424 (GRCm39) |
splice site |
probably null |
|
|
R1909:Elmod2
|
UTSW |
8 |
84,042,998 (GRCm39) |
missense |
probably benign |
0.01 |
|
R1925:Elmod2
|
UTSW |
8 |
84,048,093 (GRCm39) |
missense |
probably benign |
0.10 |
|
R4675:Elmod2
|
UTSW |
8 |
84,043,537 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6526:Elmod2
|
UTSW |
8 |
84,046,086 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7259:Elmod2
|
UTSW |
8 |
84,048,138 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7311:Elmod2
|
UTSW |
8 |
84,046,041 (GRCm39) |
critical splice donor site |
probably null |
|
|
R7873:Elmod2
|
UTSW |
8 |
84,057,848 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8804:Elmod2
|
UTSW |
8 |
84,046,150 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8995:Elmod2
|
UTSW |
8 |
84,049,315 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9432:Elmod2
|
UTSW |
8 |
84,057,761 (GRCm39) |
missense |
possibly damaging |
0.56 |
|
X0028:Elmod2
|
UTSW |
8 |
84,043,057 (GRCm39) |
missense |
possibly damaging |
0.96 |
|
X0062:Elmod2
|
UTSW |
8 |
84,048,126 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Z1177:Elmod2
|
UTSW |
8 |
84,048,130 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Z1177:Elmod2
|
UTSW |
8 |
84,044,406 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
| Posted On |
2015-12-18 |
Incidental Mutation