Incidental Mutation 'R9472:Elmo1'
| ID |
715537 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Elmo1
|
| Ensembl Gene |
ENSMUSG00000041112 |
| Gene Name |
engulfment and cell motility 1 |
| Synonyms |
CED-12, C230095H21Rik, 6330578D22Rik |
| MMRRC Submission |
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R9472 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
13 |
| Chromosomal Location |
20274766-20792523 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 20470897 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Alanine to Valine
at position 263
(A263V)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000072334
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000072519]
[ENSMUST00000180626]
|
| AlphaFold |
Q8BPU7 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000072519
AA Change: A263V
PolyPhen 2
Score 0.311 (Sensitivity: 0.90; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000072334
Gene: ENSMUSG00000041112
AA Change: A263V
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:DUF3361
|
115 |
280 |
3.8e-64 |
PFAM |
|
Pfam:ELMO_CED12
|
303 |
481 |
2.8e-42 |
PFAM |
|
PH
|
555 |
676 |
2.32e0 |
SMART |
|
low complexity region
|
704 |
717 |
N/A |
INTRINSIC |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000180626
AA Change: A263V
PolyPhen 2
Score 0.674 (Sensitivity: 0.86; Specificity: 0.92)
|
| Predicted Effect |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.6%
- 20x: 98.6%
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the engulfment and cell motility protein family. These proteins interact with dedicator of cytokinesis proteins to promote phagocytosis and cell migration. Increased expression of this gene and dedicator of cytokinesis 1 may promote glioma cell invasion, and single nucleotide polymorphisms in this gene may be associated with diabetic nephropathy. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2013]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit impaired Sertoli cell phagocytosis of apoptotic male germ cells. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 48 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adam18 |
T |
G |
8: 25,127,248 (GRCm39) |
K449N |
probably benign |
Het |
| Adam39 |
G |
A |
8: 41,279,351 (GRCm39) |
V581I |
possibly damaging |
Het |
| Agrn |
A |
G |
4: 156,254,841 (GRCm39) |
F1625S |
|
Het |
| Aox3 |
G |
T |
1: 58,215,669 (GRCm39) |
V1034L |
possibly damaging |
Het |
| Baz2a |
T |
G |
10: 127,948,624 (GRCm39) |
S302A |
probably benign |
Het |
| Capn9 |
T |
C |
8: 125,325,534 (GRCm39) |
|
probably null |
Het |
| Ccdc153 |
A |
T |
9: 44,154,923 (GRCm39) |
Q104L |
possibly damaging |
Het |
| Cdh1 |
A |
T |
8: 107,380,248 (GRCm39) |
N168I |
probably damaging |
Het |
| Crisp3 |
A |
T |
17: 40,539,676 (GRCm39) |
|
probably null |
Het |
| Ctsb |
T |
C |
14: 63,379,186 (GRCm39) |
V266A |
probably damaging |
Het |
| Cyp2c39 |
G |
T |
19: 39,502,043 (GRCm39) |
R144L |
probably damaging |
Het |
| Enkur |
T |
C |
2: 21,201,590 (GRCm39) |
R32G |
possibly damaging |
Het |
| Fsip2 |
T |
A |
2: 82,817,285 (GRCm39) |
N4339K |
possibly damaging |
Het |
| Gsn |
T |
G |
2: 35,182,741 (GRCm39) |
M268R |
probably damaging |
Het |
| Herc2 |
T |
A |
7: 55,813,843 (GRCm39) |
W2659R |
probably damaging |
Het |
| Hycc2 |
A |
G |
1: 58,574,641 (GRCm39) |
V300A |
possibly damaging |
Het |
| Ino80e |
A |
G |
7: 126,461,127 (GRCm39) |
V40A |
unknown |
Het |
| Ints2 |
T |
C |
11: 86,133,824 (GRCm39) |
T409A |
|
Het |
| Itpr3 |
G |
A |
17: 27,337,651 (GRCm39) |
|
probably benign |
Het |
| Kat2a |
A |
G |
11: 100,596,197 (GRCm39) |
V787A |
probably benign |
Het |
| Klhl32 |
A |
G |
4: 24,629,273 (GRCm39) |
V465A |
probably benign |
Het |
| Kmt2a |
C |
A |
9: 44,733,453 (GRCm39) |
R2288L |
unknown |
Het |
| Megf6 |
G |
A |
4: 154,333,910 (GRCm39) |
G213S |
probably damaging |
Het |
| Mt2 |
T |
A |
8: 94,899,999 (GRCm39) |
C44S |
probably damaging |
Het |
| Nfe2l1 |
A |
G |
11: 96,710,159 (GRCm39) |
V690A |
probably damaging |
Het |
| Obscn |
T |
C |
11: 58,894,495 (GRCm39) |
H6670R |
|
Het |
| Or4c111 |
A |
C |
2: 88,843,517 (GRCm39) |
I297S |
possibly damaging |
Het |
| Orc4 |
T |
C |
2: 48,795,563 (GRCm39) |
T388A |
probably benign |
Het |
| Pcdhb17 |
C |
A |
18: 37,618,919 (GRCm39) |
N236K |
probably damaging |
Het |
| Phlpp1 |
T |
C |
1: 106,308,079 (GRCm39) |
S1119P |
probably damaging |
Het |
| Plppr3 |
T |
C |
10: 79,702,711 (GRCm39) |
D184G |
probably damaging |
Het |
| Rassf6 |
A |
T |
5: 90,765,572 (GRCm39) |
Y46* |
probably null |
Het |
| Rmdn2 |
T |
A |
17: 79,989,096 (GRCm39) |
I405N |
possibly damaging |
Het |
| Rsbn1l |
A |
C |
5: 21,113,119 (GRCm39) |
S468A |
probably damaging |
Het |
| Rslcan18 |
T |
C |
13: 67,260,296 (GRCm39) |
K34E |
probably benign |
Het |
| Runx3 |
A |
G |
4: 134,898,441 (GRCm39) |
D204G |
probably damaging |
Het |
| Sbf2 |
A |
G |
7: 109,970,798 (GRCm39) |
I866T |
possibly damaging |
Het |
| Sgtb |
A |
C |
13: 104,247,681 (GRCm39) |
E28D |
probably benign |
Het |
| Slc38a8 |
T |
A |
8: 120,227,888 (GRCm39) |
K14M |
probably damaging |
Het |
| Spast |
T |
C |
17: 74,681,143 (GRCm39) |
V478A |
probably damaging |
Het |
| Stxbp5 |
T |
C |
10: 9,719,101 (GRCm39) |
T147A |
probably damaging |
Het |
| Tmem208 |
T |
C |
8: 106,055,027 (GRCm39) |
F79S |
probably damaging |
Het |
| Tmprss7 |
T |
C |
16: 45,501,052 (GRCm39) |
I250V |
probably benign |
Het |
| Usp24 |
A |
G |
4: 106,261,128 (GRCm39) |
T1628A |
probably benign |
Het |
| Vmn2r14 |
G |
T |
5: 109,367,962 (GRCm39) |
N343K |
probably benign |
Het |
| Xrcc6 |
T |
A |
15: 81,913,328 (GRCm39) |
Y320* |
probably null |
Het |
| Zbtb10 |
A |
C |
3: 9,343,355 (GRCm39) |
T627P |
probably benign |
Het |
| Zfp532 |
A |
T |
18: 65,756,624 (GRCm39) |
K186* |
probably null |
Het |
|
| Other mutations in Elmo1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00548:Elmo1
|
APN |
13 |
20,445,749 (GRCm39) |
missense |
probably benign |
|
|
IGL00814:Elmo1
|
APN |
13 |
20,470,894 (GRCm39) |
missense |
probably damaging |
0.97 |
|
IGL00849:Elmo1
|
APN |
13 |
20,766,493 (GRCm39) |
nonsense |
probably null |
|
|
IGL01417:Elmo1
|
APN |
13 |
20,435,345 (GRCm39) |
critical splice donor site |
probably null |
|
|
IGL01994:Elmo1
|
APN |
13 |
20,526,634 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL02435:Elmo1
|
APN |
13 |
20,773,826 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02605:Elmo1
|
APN |
13 |
20,789,372 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02716:Elmo1
|
APN |
13 |
20,633,672 (GRCm39) |
missense |
probably damaging |
0.98 |
|
IGL03389:Elmo1
|
APN |
13 |
20,526,596 (GRCm39) |
missense |
probably damaging |
0.98 |
|
braveheart
|
UTSW |
13 |
20,458,791 (GRCm39) |
critical splice donor site |
probably benign |
|
|
Debil
|
UTSW |
13 |
20,557,331 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Dollie
|
UTSW |
13 |
20,756,616 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
Edinburg
|
UTSW |
13 |
20,474,553 (GRCm39) |
nonsense |
probably null |
|
|
glasgow
|
UTSW |
13 |
20,773,812 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
Golly
|
UTSW |
13 |
20,557,286 (GRCm39) |
missense |
possibly damaging |
0.96 |
|
Lockerbie
|
UTSW |
13 |
20,784,371 (GRCm39) |
missense |
probably damaging |
1.00 |
|
sesame
|
UTSW |
13 |
20,784,382 (GRCm39) |
nonsense |
probably null |
|
|
Tickle
|
UTSW |
13 |
20,464,973 (GRCm39) |
splice site |
probably null |
|
|
Wilmut
|
UTSW |
13 |
20,766,438 (GRCm39) |
nonsense |
probably null |
|
|
Writhe
|
UTSW |
13 |
20,784,429 (GRCm39) |
critical splice donor site |
probably null |
|
|
H8562:Elmo1
|
UTSW |
13 |
20,465,033 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0360:Elmo1
|
UTSW |
13 |
20,748,663 (GRCm39) |
nonsense |
probably null |
|
|
R0364:Elmo1
|
UTSW |
13 |
20,748,663 (GRCm39) |
nonsense |
probably null |
|
|
R0372:Elmo1
|
UTSW |
13 |
20,756,629 (GRCm39) |
critical splice donor site |
probably null |
|
|
R0975:Elmo1
|
UTSW |
13 |
20,435,307 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R1167:Elmo1
|
UTSW |
13 |
20,369,625 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1511:Elmo1
|
UTSW |
13 |
20,474,647 (GRCm39) |
missense |
possibly damaging |
0.60 |
|
R1671:Elmo1
|
UTSW |
13 |
20,472,054 (GRCm39) |
splice site |
probably benign |
|
|
R1677:Elmo1
|
UTSW |
13 |
20,773,841 (GRCm39) |
missense |
probably benign |
0.22 |
|
R1868:Elmo1
|
UTSW |
13 |
20,773,823 (GRCm39) |
missense |
possibly damaging |
0.78 |
|
R2941:Elmo1
|
UTSW |
13 |
20,784,382 (GRCm39) |
nonsense |
probably null |
|
|
R3508:Elmo1
|
UTSW |
13 |
20,789,402 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4344:Elmo1
|
UTSW |
13 |
20,445,722 (GRCm39) |
splice site |
probably null |
|
|
R4378:Elmo1
|
UTSW |
13 |
20,557,286 (GRCm39) |
missense |
possibly damaging |
0.96 |
|
R4423:Elmo1
|
UTSW |
13 |
20,784,382 (GRCm39) |
nonsense |
probably null |
|
|
R4425:Elmo1
|
UTSW |
13 |
20,784,382 (GRCm39) |
nonsense |
probably null |
|
|
R4516:Elmo1
|
UTSW |
13 |
20,467,084 (GRCm39) |
missense |
probably benign |
0.11 |
|
R4862:Elmo1
|
UTSW |
13 |
20,633,682 (GRCm39) |
missense |
probably benign |
|
|
R4990:Elmo1
|
UTSW |
13 |
20,526,689 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4991:Elmo1
|
UTSW |
13 |
20,526,689 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4992:Elmo1
|
UTSW |
13 |
20,526,689 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5197:Elmo1
|
UTSW |
13 |
20,748,607 (GRCm39) |
missense |
probably benign |
0.20 |
|
R5269:Elmo1
|
UTSW |
13 |
20,633,656 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5386:Elmo1
|
UTSW |
13 |
20,784,380 (GRCm39) |
missense |
probably benign |
0.01 |
|
R5471:Elmo1
|
UTSW |
13 |
20,756,555 (GRCm39) |
missense |
probably benign |
0.01 |
|
R5922:Elmo1
|
UTSW |
13 |
20,789,339 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5947:Elmo1
|
UTSW |
13 |
20,474,553 (GRCm39) |
nonsense |
probably null |
|
|
R6512:Elmo1
|
UTSW |
13 |
20,557,331 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6531:Elmo1
|
UTSW |
13 |
20,756,616 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R7338:Elmo1
|
UTSW |
13 |
20,464,982 (GRCm39) |
missense |
probably benign |
0.37 |
|
R7378:Elmo1
|
UTSW |
13 |
20,465,105 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7477:Elmo1
|
UTSW |
13 |
20,469,489 (GRCm39) |
missense |
|
|
|
R7593:Elmo1
|
UTSW |
13 |
20,474,610 (GRCm39) |
missense |
probably benign |
|
|
R7721:Elmo1
|
UTSW |
13 |
20,464,973 (GRCm39) |
splice site |
probably null |
|
|
R7778:Elmo1
|
UTSW |
13 |
20,773,812 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R8001:Elmo1
|
UTSW |
13 |
20,470,902 (GRCm39) |
missense |
probably benign |
0.05 |
|
R8133:Elmo1
|
UTSW |
13 |
20,557,256 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8248:Elmo1
|
UTSW |
13 |
20,784,371 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8685:Elmo1
|
UTSW |
13 |
20,474,594 (GRCm39) |
missense |
possibly damaging |
0.61 |
|
R8713:Elmo1
|
UTSW |
13 |
20,458,791 (GRCm39) |
critical splice donor site |
probably benign |
|
|
R8888:Elmo1
|
UTSW |
13 |
20,748,630 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8895:Elmo1
|
UTSW |
13 |
20,748,630 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8945:Elmo1
|
UTSW |
13 |
20,766,438 (GRCm39) |
nonsense |
probably null |
|
|
R9292:Elmo1
|
UTSW |
13 |
20,784,429 (GRCm39) |
critical splice donor site |
probably null |
|
|
R9389:Elmo1
|
UTSW |
13 |
20,369,661 (GRCm39) |
missense |
probably benign |
0.01 |
|
R9417:Elmo1
|
UTSW |
13 |
20,756,573 (GRCm39) |
missense |
possibly damaging |
0.57 |
|
R9622:Elmo1
|
UTSW |
13 |
20,392,310 (GRCm39) |
missense |
probably benign |
0.01 |
|
R9661:Elmo1
|
UTSW |
13 |
20,469,531 (GRCm39) |
critical splice donor site |
probably null |
|
|
RF008:Elmo1
|
UTSW |
13 |
20,458,706 (GRCm39) |
missense |
probably benign |
0.32 |
|
| Predicted Primers |
PCR Primer
(F):5'- CACAGAGAGTCTCAGAGGTGTG -3'
(R):5'- GCCAGTTCTAAAGCATACTTCC -3'
Sequencing Primer
(F):5'- AGTCTCAGAGGTGTGGGGAC -3'
(R):5'- AAAGCATACTTCCCCTTCCTAGATTG -3'
|
| Posted On |
2022-06-15 |
Incidental Mutation