Incidental Mutation 'IGL01464:Elmod2'
| ID |
88076 |
| 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 # |
IGL01464
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
8 |
| Chromosomal Location |
84039261-84059115 bp(-) (GRCm39) |
| Type of Mutation |
splice site |
| DNA Base Change (assembly) |
G to A
at 84043421 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000137044
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000053902]
[ENSMUST00000139041]
[ENSMUST00000177594]
|
| AlphaFold |
Q8BGF6 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000053902
|
| SMART Domains |
Protein: ENSMUSP00000052287
Gene: ENSMUSG00000035151
| 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 benign
Transcript: ENSMUST00000177594
|
| SMART Domains |
Protein: ENSMUSP00000137044
Gene: ENSMUSG00000035151
| 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: 28 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adcy10 |
C |
A |
1: 165,374,156 (GRCm39) |
H748Q |
probably damaging |
Het |
| Aebp1 |
T |
C |
11: 5,819,822 (GRCm39) |
V329A |
possibly damaging |
Het |
| Ankk1 |
T |
C |
9: 49,327,272 (GRCm39) |
T636A |
probably benign |
Het |
| Apoh |
A |
T |
11: 108,286,716 (GRCm39) |
I47F |
probably damaging |
Het |
| Atg9a |
A |
G |
1: 75,167,010 (GRCm39) |
S14P |
probably damaging |
Het |
| Calb1 |
T |
A |
4: 15,881,485 (GRCm39) |
|
probably benign |
Het |
| Ccdc121rt3 |
A |
G |
5: 112,503,399 (GRCm39) |
S102P |
possibly damaging |
Het |
| Cd86 |
T |
C |
16: 36,441,315 (GRCm39) |
S51G |
probably benign |
Het |
| Ctsll3 |
C |
T |
13: 60,948,134 (GRCm39) |
G181D |
probably damaging |
Het |
| Ephx3 |
A |
G |
17: 32,407,219 (GRCm39) |
S240P |
probably damaging |
Het |
| Greb1 |
T |
C |
12: 16,764,827 (GRCm39) |
I435M |
probably damaging |
Het |
| Itpr1 |
A |
G |
6: 108,363,688 (GRCm39) |
D770G |
possibly damaging |
Het |
| Kmt2c |
G |
A |
5: 25,557,242 (GRCm39) |
T1155I |
possibly damaging |
Het |
| Lrp2 |
T |
C |
2: 69,302,783 (GRCm39) |
D2982G |
probably damaging |
Het |
| Map1b |
C |
T |
13: 99,569,251 (GRCm39) |
V1157I |
unknown |
Het |
| Nlrp4c |
T |
C |
7: 6,103,783 (GRCm39) |
C906R |
possibly damaging |
Het |
| Nlrp9b |
T |
A |
7: 19,796,580 (GRCm39) |
N976K |
probably benign |
Het |
| Nos1 |
T |
C |
5: 118,081,257 (GRCm39) |
F1153S |
probably damaging |
Het |
| Pnrc1 |
T |
C |
4: 33,246,395 (GRCm39) |
Y188C |
probably benign |
Het |
| Polr3a |
A |
C |
14: 24,520,749 (GRCm39) |
|
probably benign |
Het |
| Rgs22 |
T |
C |
15: 36,083,787 (GRCm39) |
T512A |
possibly damaging |
Het |
| Rhbdf2 |
C |
T |
11: 116,491,734 (GRCm39) |
G574S |
probably benign |
Het |
| Rnf123 |
T |
C |
9: 107,929,501 (GRCm39) |
D1217G |
probably damaging |
Het |
| Slc19a2 |
T |
C |
1: 164,088,430 (GRCm39) |
S92P |
probably damaging |
Het |
| Sycp2 |
A |
T |
2: 178,043,425 (GRCm39) |
I139N |
probably damaging |
Het |
| Vmn2r91 |
A |
G |
17: 18,327,864 (GRCm39) |
N486S |
probably null |
Het |
| Xpo1 |
T |
A |
11: 23,217,703 (GRCm39) |
H56Q |
probably damaging |
Het |
| Zbtb44 |
T |
A |
9: 30,965,580 (GRCm39) |
L330H |
probably damaging |
Het |
|
| Other mutations in Elmod2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
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 |
|
IGL02899:Elmod2
|
APN |
8 |
84,043,562 (GRCm39) |
missense |
probably damaging |
1.00 |
|
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 |
2013-11-18 |
Incidental Mutation