Incidental Mutation 'R0472:Elmo2'
ID |
46806 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Elmo2
|
Ensembl Gene |
ENSMUSG00000017670 |
Gene Name |
engulfment and cell motility 2 |
Synonyms |
CED-12, 1190002F24Rik |
MMRRC Submission |
038672-MU
|
Accession Numbers |
|
Essential gene? |
Possibly non essential
(E-score: 0.253)
|
Stock # |
R0472 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
2 |
Chromosomal Location |
165129951-165168399 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 165140250 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Isoleucine to Threonine
at position 315
(I315T)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000099380
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000071699]
[ENSMUST00000074046]
[ENSMUST00000094329]
[ENSMUST00000103088]
[ENSMUST00000103091]
|
AlphaFold |
Q8BHL5 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000071699
AA Change: I315T
PolyPhen 2
Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
|
SMART Domains |
Protein: ENSMUSP00000071619 Gene: ENSMUSG00000017670 AA Change: I315T
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: I327T
PolyPhen 2
Score 0.007 (Sensitivity: 0.96; Specificity: 0.75)
|
SMART Domains |
Protein: ENSMUSP00000073691 Gene: ENSMUSG00000017670 AA Change: I327T
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 damaging
Transcript: ENSMUST00000094329
AA Change: I315T
PolyPhen 2
Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
|
SMART Domains |
Protein: ENSMUSP00000091887 Gene: ENSMUSG00000017670 AA Change: I315T
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 damaging
Transcript: ENSMUST00000103088
AA Change: I315T
PolyPhen 2
Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
|
SMART Domains |
Protein: ENSMUSP00000099377 Gene: ENSMUSG00000017670 AA Change: I315T
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 damaging
Transcript: ENSMUST00000103091
AA Change: I315T
PolyPhen 2
Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
|
SMART Domains |
Protein: ENSMUSP00000099380 Gene: ENSMUSG00000017670 AA Change: I315T
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 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: 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 |
|
Meta Mutation Damage Score |
0.0642 |
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 96.8%
- 20x: 94.3%
|
Validation Efficiency |
97% (65/67) |
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: 66 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
1700128F08Rik |
A |
G |
9: 8,222,123 (GRCm39) |
|
noncoding transcript |
Het |
AI182371 |
T |
C |
2: 34,975,218 (GRCm39) |
N337S |
probably benign |
Het |
Aldh3b1 |
C |
T |
19: 3,964,024 (GRCm39) |
R426H |
probably damaging |
Het |
Arap2 |
A |
G |
5: 62,864,002 (GRCm39) |
F541L |
probably damaging |
Het |
Asap2 |
G |
T |
12: 21,263,186 (GRCm39) |
R267L |
possibly damaging |
Het |
Ass1 |
A |
T |
2: 31,404,831 (GRCm39) |
N371Y |
probably damaging |
Het |
Bmp8b |
T |
A |
4: 123,015,692 (GRCm39) |
D226E |
probably benign |
Het |
C1ra |
T |
A |
6: 124,494,403 (GRCm39) |
D283E |
possibly damaging |
Het |
Cacul1 |
G |
T |
19: 60,531,464 (GRCm39) |
H268Q |
probably damaging |
Het |
Cd9 |
T |
C |
6: 125,449,396 (GRCm39) |
N49D |
probably benign |
Het |
Cdc42bpa |
A |
G |
1: 179,867,744 (GRCm39) |
H193R |
probably damaging |
Het |
Cep290 |
G |
A |
10: 100,387,317 (GRCm39) |
G1935E |
probably benign |
Het |
Cep350 |
A |
T |
1: 155,790,469 (GRCm39) |
I1362N |
probably damaging |
Het |
Chchd7 |
A |
T |
4: 3,943,416 (GRCm39) |
N61I |
possibly damaging |
Het |
Clca3a1 |
A |
T |
3: 144,733,106 (GRCm39) |
L134Q |
probably damaging |
Het |
Clec2j |
T |
C |
6: 128,633,565 (GRCm39) |
|
noncoding transcript |
Het |
Clvs1 |
G |
A |
4: 9,281,801 (GRCm39) |
A82T |
probably damaging |
Het |
Csn1s1 |
A |
T |
5: 87,825,486 (GRCm39) |
Y231F |
possibly damaging |
Het |
Cyp2c55 |
A |
T |
19: 39,019,823 (GRCm39) |
T254S |
probably benign |
Het |
Decr1 |
A |
G |
4: 15,919,849 (GRCm39) |
S290P |
probably damaging |
Het |
Dnai2 |
T |
A |
11: 114,636,015 (GRCm39) |
|
probably benign |
Het |
Dock4 |
C |
A |
12: 40,888,437 (GRCm39) |
|
probably benign |
Het |
Dst |
T |
C |
1: 34,306,041 (GRCm39) |
|
probably null |
Het |
Fcho2 |
A |
G |
13: 98,884,775 (GRCm39) |
F431L |
probably benign |
Het |
Fez2 |
A |
G |
17: 78,692,261 (GRCm39) |
|
probably benign |
Het |
Gas2l3 |
C |
T |
10: 89,262,339 (GRCm39) |
A128T |
probably damaging |
Het |
Hpse2 |
T |
C |
19: 43,001,602 (GRCm39) |
I222M |
probably damaging |
Het |
Katnip |
A |
G |
7: 125,472,139 (GRCm39) |
N1548S |
probably damaging |
Het |
Kcna2 |
A |
G |
3: 107,012,832 (GRCm39) |
D471G |
probably benign |
Het |
Kcnj13 |
T |
A |
1: 87,314,568 (GRCm39) |
Y218F |
probably benign |
Het |
Kif1a |
T |
C |
1: 92,946,719 (GRCm39) |
H1763R |
probably damaging |
Het |
Krt1c |
C |
T |
15: 101,721,688 (GRCm39) |
R451H |
probably damaging |
Het |
Lama2 |
A |
G |
10: 26,866,863 (GRCm39) |
V2877A |
probably damaging |
Het |
Lrrc2 |
A |
T |
9: 110,791,685 (GRCm39) |
M80L |
probably benign |
Het |
Naip6 |
A |
G |
13: 100,438,768 (GRCm39) |
V343A |
probably benign |
Het |
Nedd4l |
T |
C |
18: 65,341,532 (GRCm39) |
Y753H |
probably damaging |
Het |
Nif3l1 |
A |
C |
1: 58,486,987 (GRCm39) |
S58R |
probably damaging |
Het |
Or51h7 |
A |
T |
7: 102,591,258 (GRCm39) |
C175* |
probably null |
Het |
Or5w20 |
T |
A |
2: 87,726,837 (GRCm39) |
V98E |
possibly damaging |
Het |
Or9r3 |
G |
A |
10: 129,948,449 (GRCm39) |
S70F |
probably damaging |
Het |
Osbpl11 |
C |
A |
16: 33,054,814 (GRCm39) |
Y632* |
probably null |
Het |
Pask |
A |
T |
1: 93,248,639 (GRCm39) |
D920E |
probably benign |
Het |
Pclo |
T |
C |
5: 14,731,608 (GRCm39) |
V3370A |
unknown |
Het |
Ptpn21 |
G |
A |
12: 98,670,499 (GRCm39) |
|
probably benign |
Het |
Rph3al |
T |
C |
11: 75,799,795 (GRCm39) |
I55V |
probably benign |
Het |
Rsad2 |
T |
G |
12: 26,504,167 (GRCm39) |
I121L |
possibly damaging |
Het |
Sergef |
T |
G |
7: 46,283,170 (GRCm39) |
|
probably benign |
Het |
Sp110 |
C |
T |
1: 85,516,841 (GRCm39) |
E219K |
possibly damaging |
Het |
Tas2r104 |
T |
C |
6: 131,662,434 (GRCm39) |
I92V |
probably benign |
Het |
Tasor2 |
A |
G |
13: 3,638,364 (GRCm39) |
S456P |
possibly damaging |
Het |
Tbc1d23 |
T |
A |
16: 56,993,469 (GRCm39) |
I566F |
possibly damaging |
Het |
Tbc1d9b |
A |
G |
11: 50,059,055 (GRCm39) |
|
probably null |
Het |
Tie1 |
T |
A |
4: 118,333,344 (GRCm39) |
I841L |
possibly damaging |
Het |
Tpo |
A |
G |
12: 30,150,485 (GRCm39) |
V465A |
probably benign |
Het |
Ttll3 |
A |
T |
6: 113,386,300 (GRCm39) |
Q711L |
probably damaging |
Het |
Ttn |
C |
T |
2: 76,783,385 (GRCm39) |
R869H |
probably benign |
Het |
Uggt2 |
A |
G |
14: 119,332,748 (GRCm39) |
V62A |
probably damaging |
Het |
Usp34 |
T |
C |
11: 23,334,509 (GRCm39) |
|
probably benign |
Het |
Vmn1r17 |
C |
A |
6: 57,338,304 (GRCm39) |
M20I |
probably benign |
Het |
Vmn1r71 |
G |
C |
7: 10,482,019 (GRCm39) |
S223C |
possibly damaging |
Het |
Vmn2r120 |
C |
T |
17: 57,831,518 (GRCm39) |
V424I |
probably benign |
Het |
Vps13b |
T |
C |
15: 35,417,779 (GRCm39) |
|
probably null |
Het |
Wdfy3 |
C |
A |
5: 102,105,309 (GRCm39) |
A173S |
probably benign |
Het |
Wdr59 |
T |
C |
8: 112,213,629 (GRCm39) |
|
probably null |
Het |
Ythdc2 |
A |
T |
18: 44,997,424 (GRCm39) |
M994L |
probably benign |
Het |
Zfp808 |
T |
A |
13: 62,320,120 (GRCm39) |
F450I |
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 |
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 |
|
Predicted Primers |
PCR Primer
(F):5'- TGGATCTGGTTTACGCCCACCAAG -3'
(R):5'- GAATGCTGTGTGAAGTGGTCTCCTC -3'
Sequencing Primer
(F):5'- ACTCCAGGGCTGTCACTATG -3'
(R):5'- AGTGGTCTCCTCAAAACTGG -3'
|
Posted On |
2013-06-11 |