Incidental Mutation 'IGL00796:Elmo2'
| ID |
10467 |
| 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? |
Possibly non essential
(E-score: 0.253)
|
| Stock # |
IGL00796
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
2 |
| Chromosomal Location |
165129951-165168399 bp(-) (GRCm39) |
| Type of Mutation |
unclassified |
| DNA Base Change (assembly) |
A to T
at 165133934 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000116288
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000017808]
[ENSMUST00000071699]
[ENSMUST00000074046]
[ENSMUST00000094329]
[ENSMUST00000103088]
[ENSMUST00000103091]
[ENSMUST00000109298]
[ENSMUST00000132270]
[ENSMUST00000130393]
[ENSMUST00000131409]
[ENSMUST00000109299]
[ENSMUST00000133961]
[ENSMUST00000156134]
[ENSMUST00000109300]
|
| AlphaFold |
Q8BHL5 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000017808
|
| SMART Domains |
Protein: ENSMUSP00000017808
Gene: ENSMUSG00000017664
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:UAA
|
15 |
320 |
3.5e-10 |
PFAM |
|
Pfam:TPT
|
165 |
315 |
6.9e-37 |
PFAM |
|
low complexity region
|
339 |
356 |
N/A |
INTRINSIC |
|
| Predicted Effect |
unknown
Transcript: ENSMUST00000071699
AA Change: C685S
|
| SMART Domains |
Protein: ENSMUSP00000071619
Gene: ENSMUSG00000017670
AA Change: C685S
| 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 |
unknown
Transcript: ENSMUST00000103088
AA Change: C685S
|
| SMART Domains |
Protein: ENSMUSP00000099377
Gene: ENSMUSG00000017670
AA Change: C685S
| 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 |
probably benign
Transcript: ENSMUST00000109298
|
| SMART Domains |
Protein: ENSMUSP00000104921
Gene: ENSMUSG00000017664
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:UAA
|
15 |
320 |
3.5e-10 |
PFAM |
|
Pfam:TPT
|
165 |
315 |
6.9e-37 |
PFAM |
|
low complexity region
|
339 |
356 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000147247
|
| 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 |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000132270
|
| SMART Domains |
Protein: ENSMUSP00000125708
Gene: ENSMUSG00000017664
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
15 |
37 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000130393
|
| SMART Domains |
Protein: ENSMUSP00000123450
Gene: ENSMUSG00000017664
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
12 |
34 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000131409
|
| SMART Domains |
Protein: ENSMUSP00000120036
Gene: ENSMUSG00000017664
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
12 |
34 |
N/A |
INTRINSIC |
|
transmembrane domain
|
44 |
66 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000109299
|
| SMART Domains |
Protein: ENSMUSP00000104922
Gene: ENSMUSG00000017664
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:UAA
|
15 |
320 |
3.5e-10 |
PFAM |
|
Pfam:TPT
|
165 |
315 |
6.9e-37 |
PFAM |
|
low complexity region
|
339 |
356 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000133961
|
| SMART Domains |
Protein: ENSMUSP00000118227
Gene: ENSMUSG00000017664
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:UAA
|
15 |
188 |
9e-9 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000156134
|
| SMART Domains |
Protein: ENSMUSP00000116288
Gene: ENSMUSG00000017664
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:UAA
|
15 |
188 |
9e-9 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000109300
|
| SMART Domains |
Protein: ENSMUSP00000104923
Gene: ENSMUSG00000017664
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:TPT
|
15 |
314 |
2.7e-27 |
PFAM |
|
Pfam:EamA
|
164 |
315 |
1.6e-8 |
PFAM |
|
low complexity region
|
339 |
356 |
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: 22 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adh5 |
A |
G |
3: 138,156,742 (GRCm39) |
T143A |
probably benign |
Het |
| Alk |
T |
A |
17: 72,212,137 (GRCm39) |
N802I |
possibly damaging |
Het |
| Aspn |
A |
G |
13: 49,710,893 (GRCm39) |
I179M |
probably damaging |
Het |
| Bptf |
A |
G |
11: 106,945,376 (GRCm39) |
L2506P |
probably damaging |
Het |
| Cacna1f |
T |
A |
X: 7,497,270 (GRCm39) |
D1594E |
probably damaging |
Het |
| Chd7 |
T |
A |
4: 8,847,271 (GRCm39) |
N1671K |
possibly damaging |
Het |
| Dnah7b |
T |
C |
1: 46,250,497 (GRCm39) |
V1706A |
probably damaging |
Het |
| Ercc6 |
T |
C |
14: 32,291,959 (GRCm39) |
S1108P |
probably benign |
Het |
| Fam53a |
A |
T |
5: 33,758,171 (GRCm39) |
D317E |
probably benign |
Het |
| Gria2 |
T |
C |
3: 80,618,097 (GRCm39) |
N313D |
probably benign |
Het |
| Itch |
A |
T |
2: 155,051,002 (GRCm39) |
H563L |
probably damaging |
Het |
| Kdm1a |
G |
A |
4: 136,281,558 (GRCm39) |
A651V |
probably damaging |
Het |
| Myb |
T |
G |
10: 21,017,698 (GRCm39) |
Q631P |
probably benign |
Het |
| Myh9 |
A |
T |
15: 77,681,195 (GRCm39) |
|
probably benign |
Het |
| Nars2 |
C |
A |
7: 96,680,786 (GRCm39) |
L319I |
probably benign |
Het |
| Nars2 |
T |
A |
7: 96,680,787 (GRCm39) |
L319Q |
probably benign |
Het |
| Pdcl2 |
G |
A |
5: 76,467,022 (GRCm39) |
T57I |
probably damaging |
Het |
| Pde6g |
T |
A |
11: 120,341,390 (GRCm39) |
I17L |
probably benign |
Het |
| Ppp1r9a |
T |
A |
6: 5,157,014 (GRCm39) |
M964K |
probably benign |
Het |
| Ssxb2 |
A |
G |
X: 8,324,459 (GRCm39) |
|
probably benign |
Het |
| Tonsl |
T |
C |
15: 76,509,349 (GRCm39) |
T8A |
probably benign |
Het |
| Zdbf2 |
T |
C |
1: 63,346,364 (GRCm39) |
M1581T |
probably benign |
Het |
|
| Other mutations in Elmo2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01096:Elmo2
|
APN |
2 |
165,138,907 (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 |
2012-12-06 |
Incidental Mutation