Incidental Mutation 'R5535:Elmo2'
| ID |
434763 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Elmo2
|
| Ensembl Gene |
ENSMUSG00000017670 |
| Gene Name |
engulfment and cell motility 2 |
| Synonyms |
CED-12, 1190002F24Rik |
| MMRRC Submission |
043093-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.253)
|
| Stock # |
R5535 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
2 |
| Chromosomal Location |
165129951-165168399 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 165152132 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 163
(V163A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000099380
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000071699]
[ENSMUST00000074046]
[ENSMUST00000094329]
[ENSMUST00000103088]
[ENSMUST00000103091]
[ENSMUST00000126318]
[ENSMUST00000133205]
|
| AlphaFold |
Q8BHL5 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000071699
AA Change: V163A
PolyPhen 2
Score 0.515 (Sensitivity: 0.88; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000071619
Gene: ENSMUSG00000017670
AA Change: V163A
| 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 |
possibly damaging
Transcript: ENSMUST00000074046
AA Change: V163A
PolyPhen 2
Score 0.515 (Sensitivity: 0.88; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000073691
Gene: ENSMUSG00000017670
AA Change: V163A
| 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 |
possibly damaging
Transcript: ENSMUST00000094329
AA Change: V163A
PolyPhen 2
Score 0.515 (Sensitivity: 0.88; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000091887
Gene: ENSMUSG00000017670
AA Change: V163A
| 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 |
possibly damaging
Transcript: ENSMUST00000103088
AA Change: V163A
PolyPhen 2
Score 0.515 (Sensitivity: 0.88; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000099377
Gene: ENSMUSG00000017670
AA Change: V163A
| 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 |
possibly damaging
Transcript: ENSMUST00000103091
AA Change: V163A
PolyPhen 2
Score 0.515 (Sensitivity: 0.88; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000099380
Gene: ENSMUSG00000017670
AA Change: V163A
| 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: ENSMUST00000126318
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000127496
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000149844
|
| Predicted Effect |
unknown
Transcript: ENSMUST00000137188
AA Change: V62A
|
| SMART Domains |
Protein: ENSMUSP00000123232
Gene: ENSMUSG00000017670
AA Change: V62A
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:DUF3361
|
17 |
172 |
1.6e-64 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000133205
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.3%
- 20x: 97.6%
|
| 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: 39 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acaa1b |
C |
T |
9: 118,977,474 (GRCm39) |
G403S |
probably damaging |
Het |
| Agbl2 |
G |
A |
2: 90,640,350 (GRCm39) |
V699I |
probably benign |
Het |
| Amer2 |
AAGGAGGAGGAGGAG |
AAGGAGGAGGAG |
14: 60,616,302 (GRCm39) |
|
probably benign |
Het |
| Bace2 |
A |
T |
16: 97,214,625 (GRCm39) |
Q271L |
probably damaging |
Het |
| Btn2a2 |
T |
C |
13: 23,662,445 (GRCm39) |
K493E |
probably benign |
Het |
| Ces3a |
T |
A |
8: 105,778,196 (GRCm39) |
D222E |
probably benign |
Het |
| Ckap2l |
A |
G |
2: 129,127,762 (GRCm39) |
C139R |
probably benign |
Het |
| Clip4 |
A |
G |
17: 72,138,257 (GRCm39) |
H485R |
probably benign |
Het |
| Cntfr |
T |
A |
4: 41,663,216 (GRCm39) |
D197V |
probably benign |
Het |
| Efcab5 |
A |
G |
11: 77,042,747 (GRCm39) |
L2P |
probably damaging |
Het |
| Fkbpl |
G |
A |
17: 34,864,303 (GRCm39) |
A24T |
probably benign |
Het |
| Flrt2 |
A |
G |
12: 95,747,200 (GRCm39) |
T513A |
probably benign |
Het |
| Gm10801 |
GT |
GTTTTT |
2: 98,492,844 (GRCm39) |
|
probably null |
Het |
| Hectd1 |
A |
T |
12: 51,849,109 (GRCm39) |
F332I |
probably damaging |
Het |
| Helz |
A |
G |
11: 107,536,946 (GRCm39) |
D947G |
probably damaging |
Het |
| Hivep2 |
T |
A |
10: 14,006,766 (GRCm39) |
D1121E |
probably benign |
Het |
| Hoxa13 |
GG |
GGCG |
6: 52,237,520 (GRCm39) |
|
probably null |
Homo |
| Hoxd13 |
A |
T |
2: 74,499,141 (GRCm39) |
Y163F |
probably damaging |
Het |
| Immt |
C |
A |
6: 71,829,768 (GRCm39) |
P158Q |
probably null |
Het |
| Kcnh5 |
A |
G |
12: 75,177,681 (GRCm39) |
S142P |
possibly damaging |
Het |
| Lnpep |
T |
G |
17: 17,758,956 (GRCm39) |
H796P |
probably benign |
Het |
| Mfhas1 |
C |
A |
8: 36,057,423 (GRCm39) |
R633S |
possibly damaging |
Het |
| Mmp25 |
A |
G |
17: 23,863,734 (GRCm39) |
L32P |
probably benign |
Het |
| Myo15b |
A |
G |
11: 115,772,127 (GRCm39) |
D299G |
probably damaging |
Het |
| Myo18b |
T |
C |
5: 112,937,908 (GRCm39) |
E1739G |
probably damaging |
Het |
| Or8b44 |
T |
A |
9: 38,410,294 (GRCm39) |
S110T |
probably benign |
Het |
| Parp9 |
A |
G |
16: 35,777,195 (GRCm39) |
K147E |
probably damaging |
Het |
| Pcdha3 |
G |
T |
18: 37,080,989 (GRCm39) |
R577L |
probably benign |
Het |
| Plod2 |
T |
A |
9: 92,488,622 (GRCm39) |
I637N |
probably damaging |
Het |
| Polk |
T |
G |
13: 96,632,005 (GRCm39) |
S243R |
probably damaging |
Het |
| Prag1 |
T |
C |
8: 36,571,168 (GRCm39) |
S584P |
probably benign |
Het |
| Prex1 |
A |
T |
2: 166,422,193 (GRCm39) |
V43E |
possibly damaging |
Het |
| Rdh10 |
T |
C |
1: 16,201,408 (GRCm39) |
Y294H |
probably damaging |
Het |
| Rnf126 |
T |
A |
10: 79,598,533 (GRCm39) |
I28F |
probably damaging |
Het |
| Sdk2 |
T |
A |
11: 113,833,984 (GRCm39) |
H66L |
possibly damaging |
Het |
| Tet1 |
G |
T |
10: 62,668,686 (GRCm39) |
P1431Q |
probably damaging |
Het |
| Tmco2 |
T |
A |
4: 120,963,190 (GRCm39) |
Q103L |
possibly damaging |
Het |
| Ucp3 |
A |
T |
7: 100,129,873 (GRCm39) |
R172W |
probably benign |
Het |
| Unc79 |
A |
T |
12: 103,135,962 (GRCm39) |
I2270F |
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 |
|
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 |
|
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- ATCTGCATAAACCTTTCAGGAGTC -3'
(R):5'- TAGTGTAAGGACCTGGGCTG -3'
Sequencing Primer
(F):5'- AGTCCTGGGAAGATCGCC -3'
(R):5'- TAAGGACCTGGGCTGTGTCC -3'
|
| Posted On |
2016-10-24 |
Incidental Mutation