Incidental Mutation 'IGL01096:Elmo2'
| ID |
50494 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Elmo2
|
| Ensembl Gene |
ENSMUSG00000017670 |
| Gene Name |
engulfment and cell motility 2 |
| Synonyms |
CED-12, 1190002F24Rik |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.233)
|
| Stock # |
IGL01096
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
2 |
| Chromosomal Location |
165129951-165168399 bp(-) (GRCm39) |
| Type of Mutation |
unclassified |
| DNA Base Change (assembly) |
A to T
at 165138907 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000071699]
[ENSMUST00000074046]
[ENSMUST00000094329]
[ENSMUST00000103088]
[ENSMUST00000103091]
|
| AlphaFold |
Q8BHL5 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000071699
|
| SMART Domains |
Protein: ENSMUSP00000071619
Gene: ENSMUSG00000017670
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:DUF3361
|
115 |
272 |
1.6e-61 |
PFAM |
|
Pfam:ELMO_CED12
|
295 |
474 |
3.2e-39 |
PFAM |
|
Pfam:PH_12
|
541 |
657 |
5.4e-33 |
PFAM |
|
internal_repeat_1
|
670 |
688 |
6.69e-7 |
PROSPERO |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000074046
|
| SMART Domains |
Protein: ENSMUSP00000073691
Gene: ENSMUSG00000017670
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:DUF3361
|
114 |
285 |
2.7e-75 |
PFAM |
|
Pfam:ELMO_CED12
|
304 |
487 |
3.7e-48 |
PFAM |
|
PDB:3A98|D
|
535 |
729 |
3e-99 |
PDB |
|
SCOP:d1mai__
|
552 |
677 |
4e-33 |
SMART |
|
Blast:PH
|
560 |
681 |
2e-82 |
BLAST |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000094329
|
| SMART Domains |
Protein: ENSMUSP00000091887
Gene: ENSMUSG00000017670
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:DUF3361
|
114 |
273 |
5.6e-77 |
PFAM |
|
Pfam:ELMO_CED12
|
292 |
475 |
3.6e-48 |
PFAM |
|
PDB:3A98|D
|
523 |
717 |
2e-99 |
PDB |
|
SCOP:d1mai__
|
540 |
665 |
5e-33 |
SMART |
|
Blast:PH
|
548 |
669 |
1e-82 |
BLAST |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000103088
|
| SMART Domains |
Protein: ENSMUSP00000099377
Gene: ENSMUSG00000017670
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:DUF3361
|
114 |
273 |
6.6e-77 |
PFAM |
|
Pfam:ELMO_CED12
|
292 |
475 |
4.3e-48 |
PFAM |
|
internal_repeat_1
|
654 |
672 |
6.69e-7 |
PROSPERO |
|
internal_repeat_1
|
670 |
688 |
6.69e-7 |
PROSPERO |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000103091
|
| SMART Domains |
Protein: ENSMUSP00000099380
Gene: ENSMUSG00000017670
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:DUF3361
|
114 |
273 |
5.6e-77 |
PFAM |
|
Pfam:ELMO_CED12
|
292 |
475 |
3.6e-48 |
PFAM |
|
PDB:3A98|D
|
523 |
717 |
2e-99 |
PDB |
|
SCOP:d1mai__
|
540 |
665 |
5e-33 |
SMART |
|
Blast:PH
|
548 |
669 |
1e-82 |
BLAST |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000127496
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000137188
|
| SMART Domains |
Protein: ENSMUSP00000123232
Gene: ENSMUSG00000017670
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:DUF3361
|
17 |
172 |
1.6e-64 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000148643
|
| SMART Domains |
Protein: ENSMUSP00000117124
Gene: ENSMUSG00000017670
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:ELMO_CED12
|
2 |
48 |
9.6e-10 |
PFAM |
|
Pfam:PH_12
|
115 |
237 |
1.3e-35 |
PFAM |
|
low complexity region
|
270 |
280 |
N/A |
INTRINSIC |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene interacts with the dedicator of cyto-kinesis 1 protein. Similarity to a C. elegans protein suggests that this protein may function in phagocytosis of apoptotic cells and in cell migration. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2015]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 34 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adgrg3 |
A |
T |
8: 95,766,221 (GRCm39) |
M351L |
possibly damaging |
Het |
| Alk |
T |
C |
17: 72,228,891 (GRCm39) |
K725E |
possibly damaging |
Het |
| Castor1 |
A |
C |
11: 4,171,850 (GRCm39) |
E309A |
probably damaging |
Het |
| Dspp |
T |
A |
5: 104,323,233 (GRCm39) |
H125Q |
possibly damaging |
Het |
| Erg |
A |
G |
16: 95,190,912 (GRCm39) |
|
probably benign |
Het |
| Fam20c |
A |
G |
5: 138,794,910 (GRCm39) |
E513G |
possibly damaging |
Het |
| Gm9839 |
G |
T |
1: 32,559,917 (GRCm39) |
T55N |
possibly damaging |
Het |
| Gpd2 |
A |
T |
2: 57,228,879 (GRCm39) |
M228L |
probably damaging |
Het |
| Hp |
A |
T |
8: 110,302,033 (GRCm39) |
M305K |
probably benign |
Het |
| Ifng |
T |
A |
10: 118,281,174 (GRCm39) |
|
probably benign |
Het |
| Igkv9-123 |
T |
C |
6: 67,931,449 (GRCm39) |
D39G |
possibly damaging |
Het |
| Melk |
T |
A |
4: 44,347,262 (GRCm39) |
F431I |
probably benign |
Het |
| Or10ak12 |
A |
G |
4: 118,666,653 (GRCm39) |
V136A |
probably damaging |
Het |
| Or12j5 |
A |
T |
7: 140,084,097 (GRCm39) |
S92T |
probably damaging |
Het |
| Or4p19 |
A |
G |
2: 88,242,135 (GRCm39) |
M289T |
probably damaging |
Het |
| Or51k1 |
A |
C |
7: 103,661,321 (GRCm39) |
L196W |
probably damaging |
Het |
| Or8g27 |
G |
A |
9: 39,129,412 (GRCm39) |
G253D |
probably damaging |
Het |
| Pappa |
T |
C |
4: 65,107,553 (GRCm39) |
Y655H |
probably damaging |
Het |
| Prss58 |
A |
T |
6: 40,872,399 (GRCm39) |
I208N |
probably damaging |
Het |
| Ryr2 |
T |
A |
13: 11,718,430 (GRCm39) |
I2720F |
probably damaging |
Het |
| Slc13a1 |
G |
T |
6: 24,104,076 (GRCm39) |
T322K |
probably damaging |
Het |
| Spag17 |
T |
C |
3: 99,970,691 (GRCm39) |
F1292L |
probably benign |
Het |
| Tbx5 |
A |
G |
5: 120,021,091 (GRCm39) |
T366A |
probably benign |
Het |
| Tmeff2 |
G |
A |
1: 50,969,705 (GRCm39) |
|
probably benign |
Het |
| Tmem101 |
C |
A |
11: 102,045,378 (GRCm39) |
|
probably null |
Het |
| Tpp2 |
C |
A |
1: 44,000,048 (GRCm39) |
P389T |
probably damaging |
Het |
| Tyk2 |
A |
G |
9: 21,020,159 (GRCm39) |
Y1000H |
probably damaging |
Het |
| Ush2a |
C |
A |
1: 188,410,574 (GRCm39) |
N2407K |
probably damaging |
Het |
| Vmn1r94 |
C |
T |
7: 19,901,561 (GRCm39) |
V248I |
probably damaging |
Het |
| Vmn2r12 |
T |
A |
5: 109,234,125 (GRCm39) |
I696F |
probably damaging |
Het |
| Vmn2r83 |
A |
G |
10: 79,313,662 (GRCm39) |
E90G |
probably damaging |
Het |
| Washc5 |
T |
C |
15: 59,222,060 (GRCm39) |
|
probably benign |
Het |
| Wee2 |
A |
G |
6: 40,440,187 (GRCm39) |
E445G |
probably benign |
Het |
| Zfp518b |
T |
C |
5: 38,830,131 (GRCm39) |
T625A |
probably benign |
Het |
|
| Other mutations in Elmo2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00796:Elmo2
|
APN |
2 |
165,133,934 (GRCm39) |
unclassified |
probably benign |
|
|
IGL01694:Elmo2
|
APN |
2 |
165,156,693 (GRCm39) |
missense |
probably benign |
0.05 |
|
IGL02016:Elmo2
|
APN |
2 |
165,136,932 (GRCm39) |
critical splice donor site |
probably null |
|
|
IGL02402:Elmo2
|
APN |
2 |
165,139,312 (GRCm39) |
missense |
probably damaging |
0.97 |
|
IGL02808:Elmo2
|
APN |
2 |
165,133,627 (GRCm39) |
unclassified |
probably benign |
|
|
IGL03030:Elmo2
|
APN |
2 |
165,136,237 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
IGL03117:Elmo2
|
APN |
2 |
165,140,573 (GRCm39) |
missense |
probably benign |
0.01 |
|
R0046:Elmo2
|
UTSW |
2 |
165,140,646 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R0046:Elmo2
|
UTSW |
2 |
165,140,646 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R0278:Elmo2
|
UTSW |
2 |
165,139,287 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0281:Elmo2
|
UTSW |
2 |
165,138,810 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0472:Elmo2
|
UTSW |
2 |
165,140,250 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R0570:Elmo2
|
UTSW |
2 |
165,146,839 (GRCm39) |
missense |
probably benign |
0.38 |
|
R1799:Elmo2
|
UTSW |
2 |
165,134,077 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1940:Elmo2
|
UTSW |
2 |
165,133,970 (GRCm39) |
unclassified |
probably benign |
|
|
R2005:Elmo2
|
UTSW |
2 |
165,140,199 (GRCm39) |
missense |
probably benign |
0.00 |
|
R2504:Elmo2
|
UTSW |
2 |
165,140,607 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R2915:Elmo2
|
UTSW |
2 |
165,139,573 (GRCm39) |
unclassified |
probably benign |
|
|
R3744:Elmo2
|
UTSW |
2 |
165,157,922 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R4027:Elmo2
|
UTSW |
2 |
165,136,169 (GRCm39) |
nonsense |
probably null |
|
|
R4419:Elmo2
|
UTSW |
2 |
165,153,675 (GRCm39) |
splice site |
probably null |
|
|
R4824:Elmo2
|
UTSW |
2 |
165,133,922 (GRCm39) |
unclassified |
probably benign |
|
|
R4888:Elmo2
|
UTSW |
2 |
165,137,209 (GRCm39) |
missense |
probably benign |
0.14 |
|
R4950:Elmo2
|
UTSW |
2 |
165,156,733 (GRCm39) |
splice site |
probably null |
|
|
R5157:Elmo2
|
UTSW |
2 |
165,133,627 (GRCm39) |
unclassified |
probably benign |
|
|
R5535:Elmo2
|
UTSW |
2 |
165,152,132 (GRCm39) |
missense |
possibly damaging |
0.51 |
|
R5682:Elmo2
|
UTSW |
2 |
165,139,330 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5840:Elmo2
|
UTSW |
2 |
165,137,472 (GRCm39) |
missense |
possibly damaging |
0.64 |
|
R5868:Elmo2
|
UTSW |
2 |
165,136,192 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R7022:Elmo2
|
UTSW |
2 |
165,136,961 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7089:Elmo2
|
UTSW |
2 |
165,146,849 (GRCm39) |
missense |
possibly damaging |
0.78 |
|
R7678:Elmo2
|
UTSW |
2 |
165,133,664 (GRCm39) |
missense |
unknown |
|
|
R8024:Elmo2
|
UTSW |
2 |
165,133,775 (GRCm39) |
missense |
unknown |
|
|
R8290:Elmo2
|
UTSW |
2 |
165,150,923 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9150:Elmo2
|
UTSW |
2 |
165,140,607 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R9166:Elmo2
|
UTSW |
2 |
165,132,438 (GRCm39) |
missense |
probably benign |
0.14 |
|
| Posted On |
2013-06-21 |
Incidental Mutation