Incidental Mutation 'IGL02016:Elmo2'
ID |
183772 |
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 # |
IGL02016
|
Quality Score |
|
Status
|
|
Chromosome |
2 |
Chromosomal Location |
165129951-165168399 bp(-) (GRCm39) |
Type of Mutation |
critical splice donor site (2 bp from exon) |
DNA Base Change (assembly) |
A to G
at 165136932 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000071699]
[ENSMUST00000071699]
[ENSMUST00000074046]
[ENSMUST00000074046]
[ENSMUST00000094329]
[ENSMUST00000094329]
[ENSMUST00000103088]
[ENSMUST00000103088]
[ENSMUST00000103091]
[ENSMUST00000103091]
|
AlphaFold |
Q8BHL5 |
Predicted Effect |
probably null
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 null
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 null
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 null
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 null
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 null
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 null
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 null
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 null
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 null
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 null
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 null
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 null
Transcript: ENSMUST00000137188
|
SMART Domains |
Protein: ENSMUSP00000123232 Gene: ENSMUSG00000017670
Domain | Start | End | E-Value | Type |
Pfam:DUF3361
|
17 |
172 |
1.6e-64 |
PFAM |
|
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: 55 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
1810024B03Rik |
C |
A |
2: 127,028,875 (GRCm39) |
G108V |
probably damaging |
Het |
A2ml1 |
T |
C |
6: 128,535,298 (GRCm39) |
E804G |
probably damaging |
Het |
Abcg4 |
G |
A |
9: 44,198,647 (GRCm39) |
T35M |
probably damaging |
Het |
Acad9 |
A |
T |
3: 36,142,635 (GRCm39) |
|
probably null |
Het |
Adgrv1 |
T |
C |
13: 81,545,572 (GRCm39) |
D5571G |
probably damaging |
Het |
App |
T |
A |
16: 84,853,409 (GRCm39) |
D223V |
unknown |
Het |
Arhgap30 |
A |
G |
1: 171,235,315 (GRCm39) |
E563G |
probably damaging |
Het |
Atp6v1e2 |
A |
T |
17: 87,251,822 (GRCm39) |
V192D |
probably damaging |
Het |
Atr |
G |
A |
9: 95,809,228 (GRCm39) |
V1969I |
probably benign |
Het |
Bean1 |
T |
C |
8: 104,937,550 (GRCm39) |
L43S |
possibly damaging |
Het |
Cand1 |
A |
G |
10: 119,048,473 (GRCm39) |
V436A |
probably damaging |
Het |
Card6 |
T |
C |
15: 5,137,738 (GRCm39) |
I39V |
probably damaging |
Het |
Ccdc73 |
A |
G |
2: 104,805,961 (GRCm39) |
T300A |
probably benign |
Het |
Ccdc88c |
T |
C |
12: 100,907,466 (GRCm39) |
T962A |
possibly damaging |
Het |
Chd6 |
G |
T |
2: 160,825,598 (GRCm39) |
L1169I |
probably damaging |
Het |
Chrna7 |
A |
T |
7: 62,753,583 (GRCm39) |
V312E |
probably damaging |
Het |
Dna2 |
A |
G |
10: 62,796,191 (GRCm39) |
N540S |
probably benign |
Het |
Elavl2 |
T |
C |
4: 91,149,172 (GRCm39) |
E209G |
probably damaging |
Het |
Fto |
A |
T |
8: 92,393,034 (GRCm39) |
R494* |
probably null |
Het |
Garre1 |
A |
G |
7: 33,938,526 (GRCm39) |
M791T |
possibly damaging |
Het |
Gm9966 |
A |
T |
7: 95,608,014 (GRCm39) |
T112S |
unknown |
Het |
Gtf3c1 |
A |
C |
7: 125,267,211 (GRCm39) |
I940S |
probably damaging |
Het |
Hecw2 |
C |
A |
1: 53,870,702 (GRCm39) |
Q1426H |
possibly damaging |
Het |
Iars2 |
A |
C |
1: 185,035,503 (GRCm39) |
L579R |
probably damaging |
Het |
Ifih1 |
A |
C |
2: 62,437,328 (GRCm39) |
M537R |
probably benign |
Het |
Kcnmb4 |
A |
G |
10: 116,282,367 (GRCm39) |
|
probably benign |
Het |
Large2 |
A |
G |
2: 92,199,888 (GRCm39) |
V175A |
possibly damaging |
Het |
Mad2l1bp |
A |
G |
17: 46,464,428 (GRCm39) |
|
probably benign |
Het |
Muc20 |
A |
T |
16: 32,617,722 (GRCm39) |
F14Y |
possibly damaging |
Het |
Myom2 |
A |
G |
8: 15,175,195 (GRCm39) |
E1258G |
probably benign |
Het |
Or8k28 |
A |
T |
2: 86,285,841 (GRCm39) |
M258K |
probably damaging |
Het |
Parp1 |
A |
T |
1: 180,426,516 (GRCm39) |
|
probably null |
Het |
Pramel22 |
T |
A |
4: 143,381,889 (GRCm39) |
E269V |
possibly damaging |
Het |
Prkra |
A |
T |
2: 76,473,653 (GRCm39) |
|
probably null |
Het |
Ror2 |
C |
T |
13: 53,264,764 (GRCm39) |
S764N |
probably damaging |
Het |
Scd1 |
C |
T |
19: 44,388,746 (GRCm39) |
G235S |
probably benign |
Het |
Sdk1 |
A |
G |
5: 142,020,184 (GRCm39) |
H654R |
possibly damaging |
Het |
Sesn3 |
A |
G |
9: 14,231,633 (GRCm39) |
Y188C |
probably damaging |
Het |
Slc26a4 |
T |
C |
12: 31,585,666 (GRCm39) |
M461V |
probably damaging |
Het |
Slc28a2 |
A |
G |
2: 122,285,822 (GRCm39) |
I439V |
probably benign |
Het |
Smc5 |
T |
A |
19: 23,251,076 (GRCm39) |
N36I |
probably benign |
Het |
Smurf2 |
A |
G |
11: 106,713,504 (GRCm39) |
F745S |
probably damaging |
Het |
Spata22 |
A |
G |
11: 73,226,857 (GRCm39) |
N65S |
possibly damaging |
Het |
Tanc1 |
A |
G |
2: 59,673,934 (GRCm39) |
T1680A |
probably benign |
Het |
Tnxb |
G |
A |
17: 34,891,249 (GRCm39) |
V531M |
probably damaging |
Het |
Trpm3 |
T |
G |
19: 22,879,433 (GRCm39) |
Y727* |
probably null |
Het |
Tssk1 |
A |
T |
16: 17,712,758 (GRCm39) |
Y181F |
probably damaging |
Het |
Ucp3 |
T |
A |
7: 100,129,766 (GRCm39) |
V136E |
probably damaging |
Het |
Uqcrfs1 |
A |
C |
13: 30,729,097 (GRCm39) |
V45G |
probably benign |
Het |
Uvrag |
A |
G |
7: 98,748,649 (GRCm39) |
I101T |
probably benign |
Het |
Vmn1r206 |
A |
T |
13: 22,804,334 (GRCm39) |
L291Q |
probably damaging |
Het |
Wnk2 |
T |
A |
13: 49,210,381 (GRCm39) |
I1813F |
probably damaging |
Het |
Zbtb3 |
T |
A |
19: 8,780,579 (GRCm39) |
V64E |
probably damaging |
Het |
Zeb2 |
A |
G |
2: 44,878,886 (GRCm39) |
I1115T |
possibly damaging |
Het |
Zfp280b |
C |
T |
10: 75,874,945 (GRCm39) |
L275F |
possibly damaging |
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 |
|
IGL01694:Elmo2
|
APN |
2 |
165,156,693 (GRCm39) |
missense |
probably benign |
0.05 |
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 |
2014-05-07 |