Incidental Mutation 'R8024:Elmo2'
| ID |
617563 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Elmo2
|
| Ensembl Gene |
ENSMUSG00000017670 |
| Gene Name |
engulfment and cell motility 2 |
| Synonyms |
CED-12, 1190002F24Rik |
| MMRRC Submission |
067463-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.253)
|
| Stock # |
R8024 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
2 |
| Chromosomal Location |
165129951-165168399 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 165133775 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Alanine
at position 738
(T738A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000071619
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000017808]
[ENSMUST00000071699]
[ENSMUST00000074046]
[ENSMUST00000094329]
[ENSMUST00000103088]
[ENSMUST00000103091]
[ENSMUST00000109298]
[ENSMUST00000109299]
[ENSMUST00000109300]
[ENSMUST00000130393]
[ENSMUST00000131409]
[ENSMUST00000132270]
[ENSMUST00000133961]
[ENSMUST00000156134]
|
| 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: T738A
|
| SMART Domains |
Protein: ENSMUSP00000071619
Gene: ENSMUSG00000017670
AA Change: T738A
| 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: T738A
|
| SMART Domains |
Protein: ENSMUSP00000099377
Gene: ENSMUSG00000017670
AA Change: T738A
| 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 |
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: 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 |
|
| 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: 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: 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: 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: ENSMUST00000156134
|
| SMART Domains |
Protein: ENSMUSP00000116288
Gene: ENSMUSG00000017664
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:UAA
|
15 |
188 |
9e-9 |
PFAM |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.8%
- 20x: 99.3%
|
| Validation Efficiency |
100% (74/74) |
| 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: 74 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2210408I21Rik |
A |
T |
13: 77,760,713 (GRCm39) |
N1257Y |
probably benign |
Het |
| 2310057J18Rik |
A |
T |
10: 28,858,591 (GRCm39) |
Y133* |
probably null |
Het |
| 2310057J18Rik |
A |
C |
10: 28,862,213 (GRCm39) |
S26A |
possibly damaging |
Het |
| 9930012K11Rik |
G |
T |
14: 70,394,116 (GRCm39) |
P220T |
probably damaging |
Het |
| Adam1b |
A |
C |
5: 121,638,986 (GRCm39) |
S686R |
probably benign |
Het |
| Adam8 |
T |
C |
7: 139,567,489 (GRCm39) |
D418G |
probably damaging |
Het |
| Adcy8 |
A |
G |
15: 64,792,095 (GRCm39) |
L287P |
probably damaging |
Het |
| Adhfe1 |
T |
A |
1: 9,634,080 (GRCm39) |
M373K |
probably benign |
Het |
| Alpk2 |
T |
C |
18: 65,438,106 (GRCm39) |
S1096G |
probably benign |
Het |
| Ankmy1 |
A |
G |
1: 92,812,716 (GRCm39) |
V531A |
probably benign |
Het |
| Ano3 |
C |
T |
2: 110,498,128 (GRCm39) |
E738K |
probably damaging |
Het |
| Ano4 |
T |
A |
10: 88,807,194 (GRCm39) |
I796F |
probably damaging |
Het |
| Apeh |
T |
C |
9: 107,969,790 (GRCm39) |
E190G |
probably benign |
Het |
| Atpsckmt |
T |
C |
15: 31,608,317 (GRCm39) |
Y123H |
probably damaging |
Het |
| Cadm3 |
A |
G |
1: 173,165,622 (GRCm39) |
L346P |
probably damaging |
Het |
| Ccdc9b |
A |
G |
2: 118,591,005 (GRCm39) |
|
probably null |
Het |
| Clec2e |
G |
A |
6: 129,071,388 (GRCm39) |
H150Y |
possibly damaging |
Het |
| Cnga4 |
A |
T |
7: 105,056,042 (GRCm39) |
N318Y |
probably damaging |
Het |
| Cnr2 |
T |
A |
4: 135,644,196 (GRCm39) |
F91L |
probably damaging |
Het |
| Diaph3 |
T |
A |
14: 86,893,835 (GRCm39) |
E1147V |
probably damaging |
Het |
| Exoc4 |
T |
A |
6: 33,324,866 (GRCm39) |
W387R |
probably damaging |
Het |
| Focad |
T |
C |
4: 88,315,237 (GRCm39) |
V1379A |
unknown |
Het |
| Frmd4a |
T |
C |
2: 4,608,513 (GRCm39) |
S794P |
probably damaging |
Het |
| Ftl1-ps1 |
A |
G |
13: 74,555,170 (GRCm39) |
T150A |
probably benign |
Het |
| Gm43517 |
A |
T |
12: 49,436,409 (GRCm39) |
|
probably benign |
Het |
| Gm5773 |
C |
T |
3: 93,680,475 (GRCm39) |
A49V |
probably benign |
Het |
| Helz |
T |
A |
11: 107,577,247 (GRCm39) |
L1867Q |
unknown |
Het |
| Il22ra1 |
A |
G |
4: 135,461,589 (GRCm39) |
H118R |
probably benign |
Het |
| Inf2 |
C |
T |
12: 112,575,336 (GRCm39) |
P856S |
unknown |
Het |
| Ints5 |
T |
A |
19: 8,873,504 (GRCm39) |
L488I |
probably damaging |
Het |
| Iqca1l |
A |
G |
5: 24,755,634 (GRCm39) |
M296T |
possibly damaging |
Het |
| Kifc1 |
G |
A |
17: 34,102,177 (GRCm39) |
R479C |
probably damaging |
Het |
| Lrba |
T |
A |
3: 86,202,708 (GRCm39) |
C289* |
probably null |
Het |
| Mael |
A |
G |
1: 166,054,196 (GRCm39) |
L196S |
probably damaging |
Het |
| Med23 |
T |
A |
10: 24,755,581 (GRCm39) |
S229R |
possibly damaging |
Het |
| Mroh9 |
T |
C |
1: 162,866,802 (GRCm39) |
N645D |
probably benign |
Het |
| Myom3 |
G |
A |
4: 135,529,059 (GRCm39) |
V1132I |
probably benign |
Het |
| Naalad2 |
T |
G |
9: 18,308,769 (GRCm39) |
|
probably benign |
Het |
| Ndufa13 |
A |
T |
8: 70,347,187 (GRCm39) |
L71H |
probably damaging |
Het |
| Nepro |
A |
T |
16: 44,551,778 (GRCm39) |
H212L |
probably benign |
Het |
| Nmd3 |
T |
A |
3: 69,637,298 (GRCm39) |
|
probably benign |
Het |
| Nox4 |
T |
A |
7: 86,954,118 (GRCm39) |
L141Q |
probably damaging |
Het |
| Or4a81 |
T |
C |
2: 89,619,390 (GRCm39) |
E102G |
probably benign |
Het |
| Or5p53 |
T |
C |
7: 107,533,645 (GRCm39) |
V306A |
probably benign |
Het |
| Or5p58 |
T |
A |
7: 107,694,496 (GRCm39) |
T94S |
probably benign |
Het |
| Or6c215 |
T |
G |
10: 129,637,812 (GRCm39) |
E194A |
probably damaging |
Het |
| Or8s2 |
T |
A |
15: 98,276,878 (GRCm39) |
M38L |
probably benign |
Het |
| Pfpl |
A |
G |
19: 12,407,570 (GRCm39) |
D607G |
possibly damaging |
Het |
| Pkd1l2 |
A |
T |
8: 117,802,921 (GRCm39) |
F233L |
possibly damaging |
Het |
| Prl6a1 |
A |
G |
13: 27,502,678 (GRCm39) |
|
probably benign |
Het |
| Ptprz1 |
A |
T |
6: 23,042,750 (GRCm39) |
E2058V |
probably damaging |
Het |
| Rag1 |
A |
T |
2: 101,472,852 (GRCm39) |
N763K |
probably damaging |
Het |
| Rhbg |
A |
C |
3: 88,155,760 (GRCm39) |
D63E |
probably damaging |
Het |
| Rrm1 |
T |
A |
7: 102,106,472 (GRCm39) |
F330L |
probably benign |
Het |
| Scaf8 |
A |
T |
17: 3,209,568 (GRCm39) |
Q97L |
unknown |
Het |
| Sdr9c7 |
G |
A |
10: 127,734,751 (GRCm39) |
V80I |
probably benign |
Het |
| Slc18a1 |
A |
G |
8: 69,527,799 (GRCm39) |
V4A |
probably benign |
Het |
| Slco3a1 |
T |
A |
7: 74,204,218 (GRCm39) |
I41F |
probably benign |
Het |
| Slirp |
T |
C |
12: 87,494,370 (GRCm39) |
V45A |
probably damaging |
Het |
| Spata31 |
A |
T |
13: 65,070,618 (GRCm39) |
Q922L |
probably benign |
Het |
| Spg11 |
A |
G |
2: 121,927,802 (GRCm39) |
S661P |
possibly damaging |
Het |
| Stab2 |
G |
T |
10: 86,681,916 (GRCm39) |
T2495K |
probably benign |
Het |
| Supt16 |
A |
G |
14: 52,408,332 (GRCm39) |
I871T |
probably damaging |
Het |
| Sval2 |
A |
G |
6: 41,837,298 (GRCm39) |
Q9R |
probably damaging |
Het |
| Syngap1 |
A |
T |
17: 27,160,426 (GRCm39) |
M1L |
probably benign |
Het |
| Tfpi |
A |
T |
2: 84,284,266 (GRCm39) |
M62K |
possibly damaging |
Het |
| Tm4sf1 |
A |
T |
3: 57,195,186 (GRCm39) |
Y200* |
probably null |
Het |
| Tmc1 |
A |
T |
19: 20,878,181 (GRCm39) |
W105R |
probably damaging |
Het |
| Tmtc2 |
T |
C |
10: 105,025,987 (GRCm39) |
E827G |
probably benign |
Het |
| Tollip |
T |
C |
7: 141,446,563 (GRCm39) |
I33V |
probably benign |
Het |
| Unc80 |
T |
A |
1: 66,645,803 (GRCm39) |
V1493D |
possibly damaging |
Het |
| Vmn2r6 |
G |
A |
3: 64,467,245 (GRCm39) |
R85W |
probably benign |
Het |
| Vwa5a |
C |
A |
9: 38,647,316 (GRCm39) |
S565* |
probably null |
Het |
| Xbp1 |
T |
A |
11: 5,471,910 (GRCm39) |
V12D |
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 |
|
|
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 |
|
|
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'- TTGACTGAGTTGGGCACTAGC -3'
(R):5'- CCTTGAACACCAGTGCTCTC -3'
Sequencing Primer
(F):5'- TGAGTTGGGCACTAGCACCTTC -3'
(R):5'- TGCTCTCACTGTGAGGAGG -3'
|
| Posted On |
2020-01-23 |
Incidental Mutation