Incidental Mutation 'IGL01694:Elmo2'
| ID |
104212 |
| 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 # |
IGL01694
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
2 |
| Chromosomal Location |
165129951-165168399 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 165156693 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Asparagine to Lysine
at position 67
(N67K)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000119682
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000071699]
[ENSMUST00000074046]
[ENSMUST00000094329]
[ENSMUST00000103088]
[ENSMUST00000103091]
[ENSMUST00000126318]
[ENSMUST00000133205]
[ENSMUST00000128690]
|
| AlphaFold |
Q8BHL5 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000071699
AA Change: N67K
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000071619
Gene: ENSMUSG00000017670
AA Change: N67K
| 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
AA Change: N67K
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000073691
Gene: ENSMUSG00000017670
AA Change: N67K
| 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
AA Change: N67K
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000091887
Gene: ENSMUSG00000017670
AA Change: N67K
| 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
AA Change: N67K
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000099377
Gene: ENSMUSG00000017670
AA Change: N67K
| 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
AA Change: N67K
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000099380
Gene: ENSMUSG00000017670
AA Change: N67K
| 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: ENSMUST00000126318
AA Change: M43K
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000127496
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000133205
AA Change: N67K
PolyPhen 2
Score 0.051 (Sensitivity: 0.94; Specificity: 0.83)
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000149844
|
| 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: ENSMUST00000128690
|
| 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: 32 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930474N05Rik |
A |
G |
14: 35,818,659 (GRCm39) |
*219W |
probably null |
Het |
| Abi1 |
G |
A |
2: 22,850,725 (GRCm39) |
T238M |
probably damaging |
Het |
| Agbl2 |
C |
T |
2: 90,631,418 (GRCm39) |
L259F |
probably damaging |
Het |
| Cacna1g |
T |
A |
11: 94,319,938 (GRCm39) |
I1413F |
probably damaging |
Het |
| Ddx21 |
T |
A |
10: 62,434,430 (GRCm39) |
K110* |
probably null |
Het |
| Dnm1l |
A |
T |
16: 16,134,515 (GRCm39) |
I463N |
probably benign |
Het |
| Dst |
C |
A |
1: 34,227,241 (GRCm39) |
H1286Q |
probably benign |
Het |
| Eps8l3 |
G |
A |
3: 107,799,624 (GRCm39) |
C578Y |
probably damaging |
Het |
| Fam83b |
T |
A |
9: 76,398,272 (GRCm39) |
I944F |
probably benign |
Het |
| Itga10 |
A |
T |
3: 96,559,833 (GRCm39) |
D496V |
probably damaging |
Het |
| Lama2 |
T |
G |
10: 26,882,738 (GRCm39) |
K2608N |
possibly damaging |
Het |
| Lap3 |
T |
A |
5: 45,655,937 (GRCm39) |
|
probably null |
Het |
| Madd |
T |
C |
2: 90,988,320 (GRCm39) |
|
probably benign |
Het |
| Mdh1b |
T |
A |
1: 63,750,265 (GRCm39) |
|
probably benign |
Het |
| Ncapg2 |
G |
A |
12: 116,370,850 (GRCm39) |
|
probably benign |
Het |
| Opalin |
A |
G |
19: 41,052,239 (GRCm39) |
|
probably benign |
Het |
| Or4e2 |
A |
G |
14: 52,688,041 (GRCm39) |
N57S |
probably benign |
Het |
| Plxna3 |
T |
A |
X: 73,382,114 (GRCm39) |
D1291E |
probably damaging |
Het |
| Prss40 |
T |
A |
1: 34,595,178 (GRCm39) |
I101F |
probably benign |
Het |
| Rpl5 |
T |
C |
5: 108,055,106 (GRCm39) |
Y253H |
probably benign |
Het |
| Sephs2 |
A |
G |
7: 126,872,259 (GRCm39) |
I278T |
probably benign |
Het |
| Slc25a34 |
G |
A |
4: 141,349,564 (GRCm39) |
A197V |
probably benign |
Het |
| Slco6d1 |
C |
T |
1: 98,427,570 (GRCm39) |
R634W |
probably damaging |
Het |
| Smarca4 |
C |
A |
9: 21,577,166 (GRCm39) |
A871D |
probably damaging |
Het |
| Speer2 |
C |
T |
16: 69,655,000 (GRCm39) |
S155N |
probably damaging |
Het |
| Speer2 |
T |
A |
16: 69,655,001 (GRCm39) |
S155C |
probably damaging |
Het |
| Spink12 |
T |
A |
18: 44,240,827 (GRCm39) |
V71E |
probably damaging |
Het |
| Tecta |
T |
C |
9: 42,278,475 (GRCm39) |
D1011G |
possibly damaging |
Het |
| Tmtc4 |
G |
A |
14: 123,210,624 (GRCm39) |
T78I |
possibly damaging |
Het |
| Tub |
T |
C |
7: 108,620,243 (GRCm39) |
|
probably benign |
Het |
| Vps13c |
T |
A |
9: 67,802,631 (GRCm39) |
V644D |
probably damaging |
Het |
| Zfp7 |
C |
T |
15: 76,774,995 (GRCm39) |
Q346* |
probably null |
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 |
|
|
IGL01096:Elmo2
|
APN |
2 |
165,138,907 (GRCm39) |
unclassified |
probably benign |
|
|
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 |
2014-01-21 |
Incidental Mutation