Incidental Mutation 'R5255:Elmo3'
| ID |
399485 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Elmo3
|
| Ensembl Gene |
ENSMUSG00000014791 |
| Gene Name |
engulfment and cell motility 3 |
| Synonyms |
CED-12 |
| MMRRC Submission |
042826-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R5255 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
8 |
| Chromosomal Location |
106032240-106036625 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 106033985 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Proline to Leucine
at position 244
(P244L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000105000
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000015003]
[ENSMUST00000070508]
[ENSMUST00000109375]
[ENSMUST00000209964]
[ENSMUST00000210412]
[ENSMUST00000212033]
[ENSMUST00000211199]
[ENSMUST00000212046]
[ENSMUST00000210801]
|
| AlphaFold |
Q8BYZ7 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000015003
|
| SMART Domains |
Protein: ENSMUSP00000015003
Gene: ENSMUSG00000014859
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
4 |
15 |
N/A |
INTRINSIC |
|
E2F_TDP
|
17 |
83 |
3.56e-31 |
SMART |
|
Pfam:E2F_CC-MB
|
100 |
196 |
2.8e-36 |
PFAM |
|
low complexity region
|
201 |
252 |
N/A |
INTRINSIC |
|
low complexity region
|
360 |
372 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000070508
|
| SMART Domains |
Protein: ENSMUSP00000063248
Gene: ENSMUSG00000041679
| Domain | Start | End | E-Value | Type |
|---|
|
LRR
|
42 |
67 |
7.15e-2 |
SMART |
|
LRR
|
68 |
93 |
1.92e-2 |
SMART |
|
LRR
|
94 |
119 |
1.23e0 |
SMART |
|
LRR
|
120 |
145 |
1.56e2 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000093622
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000109375
AA Change: P244L
PolyPhen 2
Score 0.084 (Sensitivity: 0.93; Specificity: 0.85)
|
| SMART Domains |
Protein: ENSMUSP00000105000
Gene: ENSMUSG00000014791
AA Change: P244L
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:DUF3361
|
115 |
268 |
3.8e-55 |
PFAM |
|
Pfam:ELMO_CED12
|
291 |
468 |
1.1e-42 |
PFAM |
|
PH
|
542 |
665 |
2.17e0 |
SMART |
|
low complexity region
|
694 |
706 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000184892
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000209964
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000210412
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000212033
AA Change: P227L
PolyPhen 2
Score 0.068 (Sensitivity: 0.94; Specificity: 0.84)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000211199
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000212046
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000212345
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000212572
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000210801
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000212655
|
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.6%
- 10x: 97.2%
- 20x: 95.3%
|
| 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 is similar to a C. elegans protein that functions in phagocytosis of apoptotic cells and in cell migration. Other members of this small family of engulfment and cell motility (ELMO) proteins have been shown to interact with the dedicator of cyto-kinesis 1 protein to promote phagocytosis and effect cell shape changes. [provided by RefSeq, Jul 2008]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 46 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcf1 |
A |
T |
17: 36,270,629 (GRCm39) |
|
probably null |
Het |
| Abr |
T |
A |
11: 76,346,509 (GRCm39) |
E434V |
probably damaging |
Het |
| Acaca |
T |
A |
11: 84,202,133 (GRCm39) |
L197Q |
probably damaging |
Het |
| Acot10 |
A |
G |
15: 20,666,018 (GRCm39) |
I241T |
probably benign |
Het |
| Acp6 |
T |
C |
3: 97,075,312 (GRCm39) |
V182A |
probably benign |
Het |
| Ahnak2 |
G |
A |
12: 112,739,812 (GRCm39) |
T1420I |
possibly damaging |
Het |
| Akr1c6 |
A |
T |
13: 4,497,018 (GRCm39) |
K153N |
probably benign |
Het |
| Ank3 |
T |
C |
10: 69,721,030 (GRCm39) |
L600P |
probably damaging |
Het |
| Arhgef1 |
G |
A |
7: 24,624,447 (GRCm39) |
A824T |
probably damaging |
Het |
| B230307C23Rik |
T |
A |
16: 97,809,891 (GRCm39) |
N22K |
possibly damaging |
Het |
| Btn1a1 |
A |
G |
13: 23,648,324 (GRCm39) |
|
probably benign |
Het |
| Cenpf |
G |
A |
1: 189,404,824 (GRCm39) |
T352I |
possibly damaging |
Het |
| Ces4a |
C |
A |
8: 105,869,121 (GRCm39) |
F185L |
probably benign |
Het |
| Clybl |
A |
C |
14: 122,621,691 (GRCm39) |
E293A |
probably benign |
Het |
| Cobl |
A |
G |
11: 12,325,825 (GRCm39) |
W217R |
probably damaging |
Het |
| D430041D05Rik |
T |
C |
2: 104,086,945 (GRCm39) |
N677S |
probably benign |
Het |
| Ddx51 |
C |
A |
5: 110,803,908 (GRCm39) |
T390N |
possibly damaging |
Het |
| Drd5 |
T |
G |
5: 38,477,310 (GRCm39) |
V101G |
probably damaging |
Het |
| Esrrg |
G |
A |
1: 187,878,555 (GRCm39) |
R189H |
probably damaging |
Het |
| Fxr2 |
A |
G |
11: 69,534,667 (GRCm39) |
T183A |
probably benign |
Het |
| Gjd4 |
T |
C |
18: 9,280,613 (GRCm39) |
H155R |
probably benign |
Het |
| Hivep2 |
T |
A |
10: 14,007,011 (GRCm39) |
|
probably null |
Het |
| Ints10 |
T |
C |
8: 69,246,624 (GRCm39) |
|
probably benign |
Het |
| Kank4 |
T |
C |
4: 98,667,209 (GRCm39) |
T413A |
probably benign |
Het |
| Mapkbp1 |
T |
C |
2: 119,847,735 (GRCm39) |
V568A |
probably damaging |
Het |
| Mobp |
A |
G |
9: 119,997,419 (GRCm39) |
|
probably benign |
Het |
| Mpst |
A |
G |
15: 78,294,708 (GRCm39) |
S147G |
probably benign |
Het |
| Myo5b |
A |
T |
18: 74,795,741 (GRCm39) |
Y559F |
possibly damaging |
Het |
| Nceh1 |
T |
C |
3: 27,237,288 (GRCm39) |
I21T |
probably damaging |
Het |
| Or4f7 |
T |
C |
2: 111,644,523 (GRCm39) |
K183E |
probably benign |
Het |
| Phf8-ps |
A |
T |
17: 33,285,739 (GRCm39) |
C354* |
probably null |
Het |
| Ralgps1 |
A |
T |
2: 33,166,171 (GRCm39) |
V126E |
probably damaging |
Het |
| Rnls |
A |
G |
19: 33,359,823 (GRCm39) |
V115A |
probably damaging |
Het |
| Scn1a |
A |
T |
2: 66,108,013 (GRCm39) |
V1554D |
probably damaging |
Het |
| Slc16a11 |
T |
A |
11: 70,106,258 (GRCm39) |
D165E |
probably damaging |
Het |
| Slc16a5 |
A |
G |
11: 115,353,501 (GRCm39) |
T23A |
probably benign |
Het |
| Slc22a30 |
G |
A |
19: 8,321,757 (GRCm39) |
Q436* |
probably null |
Het |
| Slc3a1 |
A |
T |
17: 85,335,881 (GRCm39) |
|
probably null |
Het |
| Slitrk6 |
A |
T |
14: 110,987,185 (GRCm39) |
*841K |
probably null |
Het |
| Syngr1 |
A |
G |
15: 79,975,647 (GRCm39) |
Y18C |
possibly damaging |
Het |
| Tarbp1 |
T |
G |
8: 127,155,709 (GRCm39) |
D1343A |
probably benign |
Het |
| Vac14 |
T |
A |
8: 111,360,961 (GRCm39) |
I177N |
probably damaging |
Het |
| Vmn1r218 |
A |
T |
13: 23,320,881 (GRCm39) |
D76V |
possibly damaging |
Het |
| Wdr75 |
T |
A |
1: 45,838,277 (GRCm39) |
I62N |
probably damaging |
Het |
| Zfp12 |
A |
T |
5: 143,226,134 (GRCm39) |
I68L |
probably null |
Het |
| Zswim8 |
T |
A |
14: 20,771,719 (GRCm39) |
Y1551N |
probably damaging |
Het |
|
| Other mutations in Elmo3 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02183:Elmo3
|
APN |
8 |
106,034,955 (GRCm39) |
missense |
probably benign |
0.22 |
|
IGL02580:Elmo3
|
APN |
8 |
106,035,126 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03126:Elmo3
|
APN |
8 |
106,033,013 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03349:Elmo3
|
APN |
8 |
106,033,020 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R0119:Elmo3
|
UTSW |
8 |
106,036,400 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0244:Elmo3
|
UTSW |
8 |
106,035,803 (GRCm39) |
missense |
probably benign |
0.03 |
|
R1572:Elmo3
|
UTSW |
8 |
106,034,933 (GRCm39) |
missense |
probably benign |
0.03 |
|
R1861:Elmo3
|
UTSW |
8 |
106,035,213 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2143:Elmo3
|
UTSW |
8 |
106,035,305 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2344:Elmo3
|
UTSW |
8 |
106,035,793 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2920:Elmo3
|
UTSW |
8 |
106,034,691 (GRCm39) |
missense |
possibly damaging |
0.61 |
|
R3687:Elmo3
|
UTSW |
8 |
106,035,468 (GRCm39) |
critical splice donor site |
probably null |
|
|
R3944:Elmo3
|
UTSW |
8 |
106,035,852 (GRCm39) |
critical splice donor site |
probably null |
|
|
R4992:Elmo3
|
UTSW |
8 |
106,036,133 (GRCm39) |
nonsense |
probably null |
|
|
R5976:Elmo3
|
UTSW |
8 |
106,034,279 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6340:Elmo3
|
UTSW |
8 |
106,033,379 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6826:Elmo3
|
UTSW |
8 |
106,033,378 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7541:Elmo3
|
UTSW |
8 |
106,033,346 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7788:Elmo3
|
UTSW |
8 |
106,034,876 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R7860:Elmo3
|
UTSW |
8 |
106,035,649 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8553:Elmo3
|
UTSW |
8 |
106,033,810 (GRCm39) |
missense |
probably benign |
0.02 |
|
R9586:Elmo3
|
UTSW |
8 |
106,034,760 (GRCm39) |
missense |
probably damaging |
1.00 |
|
V8831:Elmo3
|
UTSW |
8 |
106,033,693 (GRCm39) |
missense |
probably benign |
0.24 |
|
X0060:Elmo3
|
UTSW |
8 |
106,032,645 (GRCm39) |
splice site |
probably null |
|
|
| Predicted Primers |
PCR Primer
(F):5'- ACCTGCAAGTGTAAGCCTCTAG -3'
(R):5'- ACAAGGCTTGGGTGAGACTC -3'
Sequencing Primer
(F):5'- CTGCAAGTGTAAGCCTCTAGGGTAC -3'
(R):5'- AGAGGGTCTCCTTGGCCTG -3'
|
| Posted On |
2016-07-06 |
Incidental Mutation