Incidental Mutation 'R0046:Elmo2'
ID |
16159 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Elmo2
|
Ensembl Gene |
ENSMUSG00000017670 |
Gene Name |
engulfment and cell motility 2 |
Synonyms |
CED-12, 1190002F24Rik |
MMRRC Submission |
038340-MU
|
Accession Numbers |
|
Essential gene? |
Possibly non essential
(E-score: 0.253)
|
Stock # |
R0046 (G1)
|
Quality Score |
|
Status
|
Validated
|
Chromosome |
2 |
Chromosomal Location |
165129951-165168399 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to A
at 165140646 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Asparagine to Isoleucine
at position 275
(N275I)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000099377
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000071699]
[ENSMUST00000074046]
[ENSMUST00000094329]
[ENSMUST00000103088]
[ENSMUST00000103091]
|
AlphaFold |
Q8BHL5 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000071699
AA Change: N275I
PolyPhen 2
Score 0.968 (Sensitivity: 0.77; Specificity: 0.95)
|
SMART Domains |
Protein: ENSMUSP00000071619 Gene: ENSMUSG00000017670 AA Change: N275I
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: N287I
PolyPhen 2
Score 0.198 (Sensitivity: 0.92; Specificity: 0.88)
|
SMART Domains |
Protein: ENSMUSP00000073691 Gene: ENSMUSG00000017670 AA Change: N287I
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: N275I
PolyPhen 2
Score 0.640 (Sensitivity: 0.87; Specificity: 0.91)
|
SMART Domains |
Protein: ENSMUSP00000091887 Gene: ENSMUSG00000017670 AA Change: N275I
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: N275I
PolyPhen 2
Score 0.968 (Sensitivity: 0.77; Specificity: 0.95)
|
SMART Domains |
Protein: ENSMUSP00000099377 Gene: ENSMUSG00000017670 AA Change: N275I
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: N275I
PolyPhen 2
Score 0.640 (Sensitivity: 0.87; Specificity: 0.91)
|
SMART Domains |
Protein: ENSMUSP00000099380 Gene: ENSMUSG00000017670 AA Change: N275I
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 |
unknown
Transcript: ENSMUST00000137188
AA Change: N174I
|
SMART Domains |
Protein: ENSMUSP00000123232 Gene: ENSMUSG00000017670 AA Change: N174I
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 |
0.1490 |
Coding Region Coverage |
- 1x: 89.2%
- 3x: 86.2%
- 10x: 78.3%
- 20x: 64.0%
|
Validation Efficiency |
98% (86/88) |
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: 57 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Actl7a |
A |
T |
4: 56,743,877 (GRCm39) |
K135* |
probably null |
Het |
Adamts16 |
A |
G |
13: 70,911,579 (GRCm39) |
S871P |
probably benign |
Het |
Adcy10 |
A |
T |
1: 165,367,403 (GRCm39) |
I558F |
probably damaging |
Het |
Adsl |
T |
G |
15: 80,846,989 (GRCm39) |
|
probably null |
Het |
Aldob |
T |
C |
4: 49,543,842 (GRCm39) |
I47V |
possibly damaging |
Het |
Alkbh8 |
A |
G |
9: 3,343,247 (GRCm39) |
E46G |
probably damaging |
Het |
Atp1a4 |
A |
T |
1: 172,067,664 (GRCm39) |
L533Q |
probably benign |
Het |
Auts2 |
T |
C |
5: 131,799,624 (GRCm39) |
|
noncoding transcript |
Het |
B3gnt3 |
T |
C |
8: 72,145,567 (GRCm39) |
Y267C |
probably damaging |
Het |
Ccdc39 |
A |
G |
3: 33,898,301 (GRCm39) |
F15L |
possibly damaging |
Het |
Cntnap5c |
T |
G |
17: 58,666,295 (GRCm39) |
D1108E |
probably benign |
Het |
Col14a1 |
G |
A |
15: 55,272,359 (GRCm39) |
|
probably benign |
Het |
Col9a3 |
G |
A |
2: 180,251,280 (GRCm39) |
A317T |
possibly damaging |
Het |
Cpt1c |
A |
T |
7: 44,609,256 (GRCm39) |
|
probably benign |
Het |
Cpt2 |
A |
G |
4: 107,761,559 (GRCm39) |
|
probably null |
Het |
Crebrf |
T |
A |
17: 26,982,308 (GRCm39) |
L565M |
probably damaging |
Het |
Dmxl1 |
T |
A |
18: 50,011,149 (GRCm39) |
V1102E |
probably benign |
Het |
Dock4 |
G |
A |
12: 40,787,359 (GRCm39) |
|
probably benign |
Het |
Dpp3 |
G |
T |
19: 4,964,671 (GRCm39) |
N545K |
probably damaging |
Het |
Farp1 |
A |
G |
14: 121,492,925 (GRCm39) |
K509R |
probably benign |
Het |
Flg |
T |
A |
3: 93,185,028 (GRCm39) |
|
probably benign |
Het |
Gas2l2 |
A |
T |
11: 83,312,736 (GRCm39) |
W859R |
probably damaging |
Het |
Gatm |
T |
C |
2: 122,431,225 (GRCm39) |
D254G |
probably damaging |
Het |
Gjd4 |
T |
A |
18: 9,280,998 (GRCm39) |
I27F |
probably damaging |
Het |
Gm19410 |
A |
G |
8: 36,269,799 (GRCm39) |
E1148G |
probably benign |
Het |
Haus5 |
C |
T |
7: 30,353,605 (GRCm39) |
V591I |
probably benign |
Het |
Kcnab3 |
G |
A |
11: 69,221,053 (GRCm39) |
|
probably null |
Het |
Limk1 |
T |
C |
5: 134,701,615 (GRCm39) |
Y96C |
probably damaging |
Het |
Lrp2bp |
T |
A |
8: 46,466,192 (GRCm39) |
Y100* |
probably null |
Het |
Ly75 |
A |
T |
2: 60,169,801 (GRCm39) |
|
probably benign |
Het |
Mamstr |
T |
G |
7: 45,291,194 (GRCm39) |
|
probably benign |
Het |
Man1a |
A |
G |
10: 53,795,283 (GRCm39) |
Y657H |
probably damaging |
Het |
Marf1 |
G |
A |
16: 13,929,591 (GRCm39) |
P1672S |
possibly damaging |
Het |
Mboat7 |
T |
C |
7: 3,686,817 (GRCm39) |
Y341C |
probably damaging |
Het |
Nhsl1 |
A |
T |
10: 18,401,417 (GRCm39) |
N881I |
probably damaging |
Het |
Nox3 |
T |
C |
17: 3,733,236 (GRCm39) |
Y225C |
probably benign |
Het |
Or4c109 |
C |
T |
2: 88,817,693 (GRCm39) |
M284I |
probably benign |
Het |
Or4c35 |
C |
T |
2: 89,808,851 (GRCm39) |
T243I |
probably damaging |
Het |
Pclo |
C |
T |
5: 14,590,493 (GRCm39) |
T931M |
unknown |
Het |
Pfas |
G |
T |
11: 68,881,293 (GRCm39) |
R1025S |
probably benign |
Het |
Prg4 |
T |
C |
1: 150,331,837 (GRCm39) |
T279A |
possibly damaging |
Het |
Psma1 |
A |
T |
7: 113,866,440 (GRCm39) |
|
probably benign |
Het |
Rab11fip1 |
A |
G |
8: 27,643,149 (GRCm39) |
L550P |
probably damaging |
Het |
Rgs12 |
T |
A |
5: 35,122,664 (GRCm39) |
I149N |
probably damaging |
Het |
Rmnd5a |
T |
C |
6: 71,376,215 (GRCm39) |
H195R |
probably damaging |
Het |
Rnf17 |
T |
C |
14: 56,708,830 (GRCm39) |
L750P |
probably damaging |
Het |
Rtcb |
T |
C |
10: 85,793,520 (GRCm39) |
N18D |
probably benign |
Het |
Seh1l |
T |
C |
18: 67,925,086 (GRCm39) |
|
probably null |
Het |
Sptbn2 |
T |
C |
19: 4,795,405 (GRCm39) |
|
probably benign |
Het |
Stag3 |
C |
T |
5: 138,281,285 (GRCm39) |
|
probably benign |
Het |
Taar2 |
G |
A |
10: 23,817,393 (GRCm39) |
R311H |
probably benign |
Het |
Taok3 |
C |
T |
5: 117,410,294 (GRCm39) |
Q829* |
probably null |
Het |
Tsbp1 |
T |
C |
17: 34,679,095 (GRCm39) |
|
probably null |
Het |
Ttn |
A |
G |
2: 76,781,886 (GRCm39) |
|
probably benign |
Het |
Unc79 |
A |
G |
12: 103,091,940 (GRCm39) |
E1756G |
probably damaging |
Het |
Usp35 |
A |
T |
7: 96,962,804 (GRCm39) |
|
probably null |
Het |
Zbtb40 |
A |
G |
4: 136,714,589 (GRCm39) |
C1067R |
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 |
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 |
2013-01-08 |