Incidental Mutation 'R9166:Elmo2'
| ID |
696039 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Elmo2
|
| Ensembl Gene |
ENSMUSG00000017670 |
| Gene Name |
engulfment and cell motility 2 |
| Synonyms |
CED-12, 1190002F24Rik |
| MMRRC Submission |
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.233)
|
| Stock # |
R9166 (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 165132438 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glycine
at position 669
(D669G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000099380
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000017808]
[ENSMUST00000071699]
[ENSMUST00000074046]
[ENSMUST00000094329]
[ENSMUST00000103088]
[ENSMUST00000103091]
[ENSMUST00000109298]
[ENSMUST00000109299]
[ENSMUST00000109300]
[ENSMUST00000129210]
[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 |
probably benign
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 benign
Transcript: ENSMUST00000074046
AA Change: D681G
PolyPhen 2
Score 0.105 (Sensitivity: 0.93; Specificity: 0.86)
|
| SMART Domains |
Protein: ENSMUSP00000073691
Gene: ENSMUSG00000017670
AA Change: D681G
| 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: D669G
PolyPhen 2
Score 0.143 (Sensitivity: 0.92; Specificity: 0.86)
|
| SMART Domains |
Protein: ENSMUSP00000091887
Gene: ENSMUSG00000017670
AA Change: D669G
| 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
|
| 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 benign
Transcript: ENSMUST00000103091
AA Change: D669G
PolyPhen 2
Score 0.143 (Sensitivity: 0.92; Specificity: 0.86)
|
| SMART Domains |
Protein: ENSMUSP00000099380
Gene: ENSMUSG00000017670
AA Change: D669G
| 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: ENSMUST00000129210
|
| SMART Domains |
Protein: ENSMUSP00000118605
Gene: ENSMUSG00000017664
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:UAA
|
15 |
162 |
1.5e-8 |
PFAM |
|
| 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 |
|
| SMART Domains |
Protein: ENSMUSP00000117124
Gene: ENSMUSG00000017670
AA Change: D238G
| 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: 99.9%
- 10x: 99.7%
- 20x: 98.9%
|
| Validation Efficiency |
100% (70/70) |
| 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: 71 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4932438H23Rik |
A |
G |
16: 90,853,046 (GRCm39) |
L30P |
possibly damaging |
Het |
| Adgrb1 |
A |
C |
15: 74,420,475 (GRCm39) |
M875L |
probably benign |
Het |
| Amot |
A |
T |
X: 144,244,745 (GRCm39) |
L435H |
|
Het |
| Ankrd13c |
T |
A |
3: 157,705,357 (GRCm39) |
S427T |
probably benign |
Het |
| Aopep |
G |
A |
13: 63,318,862 (GRCm39) |
|
probably null |
Het |
| Ap3b1 |
A |
C |
13: 94,608,236 (GRCm39) |
Y569S |
probably damaging |
Het |
| Bco2 |
A |
G |
9: 50,447,667 (GRCm39) |
V352A |
probably benign |
Het |
| Bltp1 |
T |
A |
3: 37,041,516 (GRCm39) |
N2630K |
probably damaging |
Het |
| Cacnb1 |
T |
A |
11: 97,910,534 (GRCm39) |
D48V |
probably damaging |
Het |
| Cdr2l |
C |
A |
11: 115,283,537 (GRCm39) |
Q132K |
probably benign |
Het |
| Chrd |
T |
C |
16: 20,554,572 (GRCm39) |
M377T |
probably benign |
Het |
| Coq7 |
T |
C |
7: 118,109,365 (GRCm39) |
T228A |
unknown |
Het |
| D7Ertd443e |
G |
A |
7: 133,900,048 (GRCm39) |
T438I |
probably benign |
Het |
| Dlc1 |
C |
T |
8: 37,066,589 (GRCm39) |
E15K |
probably damaging |
Het |
| Dlgap5 |
C |
T |
14: 47,651,206 (GRCm39) |
R109Q |
probably damaging |
Het |
| Dysf |
T |
C |
6: 84,126,959 (GRCm39) |
V1359A |
probably damaging |
Het |
| E2f7 |
C |
T |
10: 110,618,085 (GRCm39) |
P717S |
probably benign |
Het |
| Epha6 |
A |
G |
16: 60,425,238 (GRCm39) |
V125A |
probably benign |
Het |
| Erg |
G |
T |
16: 95,190,807 (GRCm39) |
H119N |
probably benign |
Het |
| Fam13b |
T |
C |
18: 34,595,252 (GRCm39) |
S371G |
probably benign |
Het |
| Fancg |
G |
C |
4: 43,006,800 (GRCm39) |
Q297E |
probably benign |
Het |
| Gas2 |
A |
G |
7: 51,586,323 (GRCm39) |
E145G |
possibly damaging |
Het |
| Gas7 |
T |
C |
11: 67,561,446 (GRCm39) |
V218A |
probably benign |
Het |
| Gm9970 |
A |
G |
5: 31,398,345 (GRCm39) |
S78P |
unknown |
Het |
| Hectd4 |
A |
C |
5: 121,446,690 (GRCm39) |
D259A |
probably damaging |
Het |
| Hoxb2 |
T |
G |
11: 96,244,339 (GRCm39) |
S317A |
probably damaging |
Het |
| Hspg2 |
T |
C |
4: 137,270,185 (GRCm39) |
L2381P |
probably damaging |
Het |
| Irf4 |
A |
T |
13: 30,941,484 (GRCm39) |
H280L |
probably benign |
Het |
| Irf7 |
A |
G |
7: 140,844,666 (GRCm39) |
V142A |
probably benign |
Het |
| Kat7 |
T |
C |
11: 95,190,928 (GRCm39) |
I94V |
probably benign |
Het |
| Kera |
T |
A |
10: 97,448,830 (GRCm39) |
I350K |
possibly damaging |
Het |
| Klf15 |
T |
C |
6: 90,443,952 (GRCm39) |
S176P |
probably benign |
Het |
| Lrrc59 |
C |
A |
11: 94,522,959 (GRCm39) |
T53N |
probably benign |
Het |
| Morn5 |
T |
C |
2: 35,945,024 (GRCm39) |
Y83H |
probably damaging |
Het |
| Myef2l |
A |
G |
3: 10,153,849 (GRCm39) |
N206S |
probably benign |
Het |
| Neil3 |
A |
C |
8: 54,058,722 (GRCm39) |
M273R |
probably damaging |
Het |
| Ngfr |
A |
T |
11: 95,465,047 (GRCm39) |
V267E |
possibly damaging |
Het |
| Nudc |
T |
C |
4: 133,273,165 (GRCm39) |
D11G |
probably damaging |
Het |
| Or2t1 |
A |
T |
14: 14,329,059 (GRCm38) |
D316V |
probably benign |
Het |
| Or4a81 |
T |
A |
2: 89,619,291 (GRCm39) |
N135I |
probably damaging |
Het |
| Pde8a |
C |
T |
7: 80,982,619 (GRCm39) |
T746I |
probably damaging |
Het |
| Pik3cg |
C |
T |
12: 32,242,213 (GRCm39) |
G966R |
probably damaging |
Het |
| Ppfibp1 |
A |
G |
6: 146,920,980 (GRCm39) |
T573A |
probably damaging |
Het |
| Ppp2r5a |
C |
A |
1: 191,128,504 (GRCm39) |
R37L |
probably benign |
Het |
| Prpf8 |
T |
C |
11: 75,387,340 (GRCm39) |
F1207S |
possibly damaging |
Het |
| Prtg |
A |
T |
9: 72,764,107 (GRCm39) |
I527F |
probably damaging |
Het |
| Pspc1 |
A |
G |
14: 56,999,305 (GRCm39) |
M317T |
probably damaging |
Het |
| Ptpru |
C |
T |
4: 131,525,180 (GRCm39) |
V768I |
probably benign |
Het |
| Ptx4 |
A |
G |
17: 25,343,546 (GRCm39) |
|
probably null |
Het |
| Ralgapb |
T |
C |
2: 158,274,842 (GRCm39) |
|
probably null |
Het |
| Rhobtb2 |
C |
A |
14: 70,034,703 (GRCm39) |
G174V |
probably damaging |
Het |
| Sdad1 |
G |
T |
5: 92,446,080 (GRCm39) |
S285* |
probably null |
Het |
| Sema4f |
G |
T |
6: 82,890,626 (GRCm39) |
S727* |
probably null |
Het |
| Sik1 |
A |
G |
17: 32,069,727 (GRCm39) |
F241L |
probably damaging |
Het |
| Slc8b1 |
T |
C |
5: 120,662,096 (GRCm39) |
S279P |
probably benign |
Het |
| Slco4a1 |
A |
G |
2: 180,106,034 (GRCm39) |
E72G |
probably benign |
Het |
| Smok3c |
A |
T |
5: 138,063,781 (GRCm39) |
T423S |
possibly damaging |
Het |
| Sorcs3 |
T |
C |
19: 48,784,811 (GRCm39) |
V1078A |
probably benign |
Het |
| Sptb |
A |
G |
12: 76,673,776 (GRCm39) |
V337A |
probably damaging |
Het |
| Tet2 |
C |
A |
3: 133,173,933 (GRCm39) |
G1443V |
probably damaging |
Het |
| Ticam2 |
A |
T |
18: 46,694,048 (GRCm39) |
L13H |
probably damaging |
Het |
| Tnrc6a |
A |
G |
7: 122,786,624 (GRCm39) |
E1562G |
probably damaging |
Het |
| Trim24 |
A |
T |
6: 37,934,074 (GRCm39) |
K742N |
probably damaging |
Het |
| Trim56 |
A |
T |
5: 137,142,751 (GRCm39) |
V255E |
probably damaging |
Het |
| Trmt12 |
A |
G |
15: 58,744,608 (GRCm39) |
E2G |
probably benign |
Het |
| Tubd1 |
A |
T |
11: 86,452,091 (GRCm39) |
T353S |
probably benign |
Het |
| Vim |
T |
C |
2: 13,579,556 (GRCm39) |
V105A |
probably benign |
Het |
| Vmn2r58 |
A |
T |
7: 41,513,431 (GRCm39) |
V404E |
probably damaging |
Het |
| Wdr62 |
G |
A |
7: 29,941,874 (GRCm39) |
P1115L |
probably damaging |
Het |
| Wfdc12 |
G |
T |
2: 164,032,193 (GRCm39) |
C32* |
probably null |
Het |
| Zfp750 |
T |
A |
11: 121,403,980 (GRCm39) |
R298S |
probably 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 |
|
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- CAGAGTTTGTACAAGTGGCGTG -3'
(R):5'- GTTGATATGATGCTCATCTTCCTGC -3'
Sequencing Primer
(F):5'- TGCCAGTGTCTCTCCTGGG -3'
(R):5'- ATATGATGCTCATCTTCCTGCTTCCC -3'
|
| Posted On |
2022-02-07 |
Incidental Mutation