Incidental Mutation 'R0278:Elmo2'
ID |
24449 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Elmo2
|
Ensembl Gene |
ENSMUSG00000017670 |
Gene Name |
engulfment and cell motility 2 |
Synonyms |
CED-12, 1190002F24Rik |
MMRRC Submission |
038500-MU
|
Accession Numbers |
|
Essential gene? |
Possibly non essential
(E-score: 0.253)
|
Stock # |
R0278 (G1)
|
Quality Score |
218 |
Status
|
Not validated
|
Chromosome |
2 |
Chromosomal Location |
165129951-165168399 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to T
at 165139287 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Isoleucine to Asparagine
at position 420
(I420N)
|
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: I420N
PolyPhen 2
Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
|
SMART Domains |
Protein: ENSMUSP00000071619 Gene: ENSMUSG00000017670 AA Change: I420N
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 damaging
Transcript: ENSMUST00000074046
AA Change: I432N
PolyPhen 2
Score 0.982 (Sensitivity: 0.75; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000073691 Gene: ENSMUSG00000017670 AA Change: I432N
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: I420N
PolyPhen 2
Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)
|
SMART Domains |
Protein: ENSMUSP00000091887 Gene: ENSMUSG00000017670 AA Change: I420N
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: I420N
PolyPhen 2
Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
|
SMART Domains |
Protein: ENSMUSP00000099377 Gene: ENSMUSG00000017670 AA Change: I420N
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: I420N
PolyPhen 2
Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)
|
SMART Domains |
Protein: ENSMUSP00000099380 Gene: ENSMUSG00000017670 AA Change: I420N
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 |
|
Coding Region Coverage |
- 1x: 98.8%
- 3x: 97.8%
- 10x: 95.4%
- 20x: 90.7%
|
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 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: 63 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abca13 |
T |
A |
11: 9,328,215 (GRCm39) |
S3429R |
probably damaging |
Het |
Abca3 |
A |
G |
17: 24,600,894 (GRCm39) |
D436G |
probably benign |
Het |
Acacb |
C |
A |
5: 114,371,320 (GRCm39) |
Y1816* |
probably null |
Het |
Acer3 |
T |
C |
7: 97,910,804 (GRCm39) |
Y86C |
probably damaging |
Het |
Adgre1 |
A |
G |
17: 57,754,872 (GRCm39) |
I657V |
probably benign |
Het |
Akap1 |
A |
G |
11: 88,736,020 (GRCm39) |
V214A |
probably benign |
Het |
Ankrd42 |
T |
C |
7: 92,280,865 (GRCm39) |
R22G |
possibly damaging |
Het |
Apc2 |
C |
T |
10: 80,148,647 (GRCm39) |
P1234S |
possibly damaging |
Het |
Atp13a4 |
A |
G |
16: 29,273,652 (GRCm39) |
I441T |
probably damaging |
Het |
Cenpu |
G |
A |
8: 47,031,344 (GRCm39) |
A242T |
probably damaging |
Het |
Col6a6 |
A |
T |
9: 105,644,487 (GRCm39) |
V1267E |
possibly damaging |
Het |
Crhr2 |
T |
C |
6: 55,094,516 (GRCm39) |
T58A |
probably benign |
Het |
Ddx6 |
T |
G |
9: 44,542,722 (GRCm39) |
C385G |
probably damaging |
Het |
Dnah7a |
A |
T |
1: 53,543,305 (GRCm39) |
N2288K |
probably benign |
Het |
Egfl8 |
A |
T |
17: 34,833,342 (GRCm39) |
|
probably null |
Het |
Elovl4 |
A |
G |
9: 83,665,248 (GRCm39) |
F113L |
probably benign |
Het |
Fancd2 |
T |
A |
6: 113,525,409 (GRCm39) |
|
probably null |
Het |
Fbxl13 |
A |
G |
5: 21,728,908 (GRCm39) |
V456A |
probably benign |
Het |
Fgfr2 |
A |
T |
7: 129,863,592 (GRCm39) |
|
probably null |
Het |
Fkbpl |
A |
T |
17: 34,864,384 (GRCm39) |
R51* |
probably null |
Het |
Fn3krp |
G |
A |
11: 121,312,406 (GRCm39) |
V40M |
probably damaging |
Het |
Fnip1 |
A |
G |
11: 54,380,169 (GRCm39) |
|
probably null |
Het |
Gm15446 |
A |
T |
5: 110,091,281 (GRCm39) |
Q511L |
probably benign |
Het |
Gm7334 |
A |
G |
17: 51,006,289 (GRCm39) |
K192E |
probably damaging |
Het |
H2-Q10 |
A |
T |
17: 35,784,204 (GRCm39) |
T282S |
possibly damaging |
Het |
Hspa9 |
A |
G |
18: 35,073,963 (GRCm39) |
V482A |
possibly damaging |
Het |
Ica1l |
A |
T |
1: 60,053,155 (GRCm39) |
S128T |
probably benign |
Het |
Il7r |
A |
T |
15: 9,516,423 (GRCm39) |
I126K |
probably damaging |
Het |
Kcnj8 |
T |
C |
6: 142,516,074 (GRCm39) |
E11G |
probably benign |
Het |
Klkb1 |
A |
C |
8: 45,725,446 (GRCm39) |
F498V |
probably benign |
Het |
Lama1 |
A |
G |
17: 68,117,178 (GRCm39) |
E2491G |
probably null |
Het |
Lhfpl2 |
T |
C |
13: 94,310,943 (GRCm39) |
V71A |
probably benign |
Het |
Lin9 |
T |
C |
1: 180,493,488 (GRCm39) |
I198T |
probably damaging |
Het |
Lrrc7 |
T |
A |
3: 157,885,432 (GRCm39) |
M431L |
possibly damaging |
Het |
Nmt2 |
A |
G |
2: 3,326,424 (GRCm39) |
T519A |
probably benign |
Het |
Or10w1 |
C |
A |
19: 13,632,128 (GRCm39) |
L112I |
probably damaging |
Het |
Or10w1 |
T |
A |
19: 13,632,129 (GRCm39) |
L112H |
probably damaging |
Het |
Or1d2 |
T |
C |
11: 74,256,028 (GRCm39) |
F178L |
probably damaging |
Het |
Or4a74 |
G |
T |
2: 89,440,108 (GRCm39) |
L113M |
probably damaging |
Het |
Or4a74 |
A |
T |
2: 89,440,107 (GRCm39) |
L113Q |
probably damaging |
Het |
Or5al7 |
A |
T |
2: 85,992,923 (GRCm39) |
Y123* |
probably null |
Het |
Or7h8 |
G |
T |
9: 20,124,182 (GRCm39) |
C179F |
probably damaging |
Het |
Parp4 |
A |
G |
14: 56,844,980 (GRCm39) |
R624G |
probably damaging |
Het |
Pex16 |
C |
T |
2: 92,211,401 (GRCm39) |
P325S |
probably damaging |
Het |
Pik3ca |
T |
C |
3: 32,493,902 (GRCm39) |
M288T |
possibly damaging |
Het |
Pla2g5 |
C |
T |
4: 138,527,967 (GRCm39) |
D100N |
probably benign |
Het |
Prss43 |
T |
A |
9: 110,656,430 (GRCm39) |
M39K |
probably benign |
Het |
Psd4 |
T |
C |
2: 24,284,450 (GRCm39) |
S105P |
probably damaging |
Het |
Ptprz1 |
T |
A |
6: 23,000,816 (GRCm39) |
S969T |
probably benign |
Het |
Rad23b |
T |
A |
4: 55,383,575 (GRCm39) |
|
probably null |
Het |
Rif1 |
GCCACCA |
GCCA |
2: 52,000,336 (GRCm39) |
|
probably benign |
Het |
Rpl10l |
A |
G |
12: 66,331,130 (GRCm39) |
M1T |
probably null |
Het |
Sec16a |
A |
G |
2: 26,318,328 (GRCm39) |
S1588P |
probably damaging |
Het |
Sh3rf1 |
A |
T |
8: 61,827,052 (GRCm39) |
H602L |
probably damaging |
Het |
Sparcl1 |
A |
T |
5: 104,236,263 (GRCm39) |
S497T |
probably benign |
Het |
Spata13 |
A |
G |
14: 60,929,537 (GRCm39) |
Y365C |
probably benign |
Het |
Trim5 |
T |
C |
7: 103,928,882 (GRCm39) |
N20D |
probably benign |
Het |
Vmn1r201 |
G |
T |
13: 22,659,194 (GRCm39) |
W136L |
probably damaging |
Het |
Vmn2r112 |
A |
G |
17: 22,821,987 (GRCm39) |
I222V |
probably benign |
Het |
Vmn2r56 |
A |
T |
7: 12,449,644 (GRCm39) |
V198D |
probably damaging |
Het |
Wapl |
A |
G |
14: 34,414,569 (GRCm39) |
D477G |
possibly damaging |
Het |
Zfp202 |
C |
A |
9: 40,119,778 (GRCm39) |
H194N |
probably benign |
Het |
Zfp212 |
C |
T |
6: 47,903,453 (GRCm39) |
R13W |
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 |
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 |
|
Predicted Primers |
PCR Primer
(F):5'- TGTTACAAACTCAGCCAGCCCTTAC -3'
(R):5'- CCATATCAACCCAGCCTTGGACTTC -3'
Sequencing Primer
(F):5'- TTACACACAGCACTGGGG -3'
(R):5'- TGGACAACATGCTGTACCTG -3'
|
Posted On |
2013-04-16 |