Incidental Mutation 'IGL02187:Emb'
ID |
283720 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Emb
|
Ensembl Gene |
ENSMUSG00000021728 |
Gene Name |
embigin |
Synonyms |
Gp70 |
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.084)
|
Stock # |
IGL02187
|
Quality Score |
|
Status
|
|
Chromosome |
13 |
Chromosomal Location |
117357109-117410951 bp(+) (GRCm39) |
Type of Mutation |
splice site |
DNA Base Change (assembly) |
T to G
at 117405507 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Ref Sequence |
ENSEMBL: ENSMUSP00000022242
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000022242]
|
AlphaFold |
P21995 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000022242
|
SMART Domains |
Protein: ENSMUSP00000022242 Gene: ENSMUSG00000021728
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
33 |
N/A |
INTRINSIC |
IG_like
|
74 |
161 |
3.47e1 |
SMART |
IG
|
167 |
258 |
2.13e-7 |
SMART |
transmembrane domain
|
267 |
289 |
N/A |
INTRINSIC |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000225648
|
Coding Region Coverage |
|
Validation Efficiency |
|
MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a transmembrane glycoprotein that is a member of the immunoglobulin superfamily. The encoded protein may be involved in cell growth and development by mediating interactions between the cell and extracellular matrix. A pseudogene of this gene is found on chromosome 1. [provided by RefSeq, Jan 2009]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 42 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adamts18 |
C |
A |
8: 114,439,826 (GRCm39) |
E922D |
possibly damaging |
Het |
Asxl3 |
T |
A |
18: 22,658,035 (GRCm39) |
M2015K |
probably damaging |
Het |
C8a |
C |
A |
4: 104,719,933 (GRCm39) |
R15L |
probably damaging |
Het |
Catsperg2 |
A |
G |
7: 29,420,791 (GRCm39) |
V47A |
probably benign |
Het |
Cdhr2 |
C |
T |
13: 54,881,523 (GRCm39) |
T1081I |
possibly damaging |
Het |
Cenatac |
C |
T |
9: 44,322,084 (GRCm39) |
|
probably benign |
Het |
Cep85 |
T |
A |
4: 133,858,616 (GRCm39) |
M752L |
possibly damaging |
Het |
Cxcr3 |
T |
A |
X: 100,776,483 (GRCm39) |
S60C |
probably damaging |
Het |
Cyp24a1 |
T |
A |
2: 170,336,013 (GRCm39) |
N208I |
probably damaging |
Het |
Cyp2c38 |
A |
G |
19: 39,424,649 (GRCm39) |
I223T |
probably benign |
Het |
Dennd6a |
A |
G |
14: 26,328,081 (GRCm39) |
I35V |
probably benign |
Het |
Fbxo3 |
T |
C |
2: 103,858,295 (GRCm39) |
Y30H |
probably damaging |
Het |
Fnbp1l |
G |
A |
3: 122,362,449 (GRCm39) |
R120* |
probably null |
Het |
Galnt2 |
T |
C |
8: 125,032,245 (GRCm39) |
|
probably benign |
Het |
Gckr |
T |
C |
5: 31,464,768 (GRCm39) |
|
probably benign |
Het |
Gpr101 |
A |
G |
X: 56,546,841 (GRCm39) |
F103S |
probably damaging |
Het |
Gprasp1 |
T |
A |
X: 134,699,912 (GRCm39) |
V35E |
probably damaging |
Het |
Ift80 |
C |
A |
3: 68,892,789 (GRCm39) |
W133L |
probably damaging |
Het |
Impdh1 |
C |
A |
6: 29,207,086 (GRCm39) |
|
probably benign |
Het |
Ino80 |
T |
C |
2: 119,275,938 (GRCm39) |
|
probably benign |
Het |
Kansl1 |
A |
T |
11: 104,269,657 (GRCm39) |
|
probably null |
Het |
Klhl20 |
C |
T |
1: 160,937,280 (GRCm39) |
V32I |
probably benign |
Het |
Lrfn3 |
A |
G |
7: 30,055,389 (GRCm39) |
S519P |
probably damaging |
Het |
Mrpl51 |
A |
G |
6: 125,170,294 (GRCm39) |
N100S |
probably benign |
Het |
Mybpc3 |
T |
C |
2: 90,965,797 (GRCm39) |
I1203T |
probably benign |
Het |
Nbr1 |
A |
G |
11: 101,460,185 (GRCm39) |
I394V |
possibly damaging |
Het |
Nfasc |
G |
A |
1: 132,498,219 (GRCm39) |
T1155M |
probably damaging |
Het |
Or7g34 |
T |
A |
9: 19,478,393 (GRCm39) |
T96S |
probably benign |
Het |
Pan3 |
T |
C |
5: 147,463,398 (GRCm39) |
I440T |
probably benign |
Het |
Patz1 |
T |
C |
11: 3,241,134 (GRCm39) |
L174P |
probably damaging |
Het |
Paxx |
A |
G |
2: 25,350,668 (GRCm39) |
L62P |
probably damaging |
Het |
Plekhh1 |
T |
C |
12: 79,119,592 (GRCm39) |
S972P |
probably damaging |
Het |
Ppp1r13b |
G |
T |
12: 111,801,472 (GRCm39) |
T404K |
probably damaging |
Het |
Prkaa2 |
T |
C |
4: 104,904,363 (GRCm39) |
N238S |
probably benign |
Het |
Prpf6 |
T |
C |
2: 181,257,809 (GRCm39) |
Y94H |
probably damaging |
Het |
Rtn4 |
T |
C |
11: 29,658,291 (GRCm39) |
I815T |
possibly damaging |
Het |
Slc44a5 |
A |
G |
3: 153,968,554 (GRCm39) |
T582A |
probably benign |
Het |
Slitrk3 |
A |
G |
3: 72,957,605 (GRCm39) |
L389S |
probably damaging |
Het |
Srp54b |
T |
A |
12: 55,299,560 (GRCm39) |
M297K |
probably benign |
Het |
Zfp318 |
C |
T |
17: 46,707,736 (GRCm39) |
R265* |
probably null |
Het |
Zmym4 |
T |
A |
4: 126,764,066 (GRCm39) |
I1325L |
probably damaging |
Het |
Zswim2 |
C |
A |
2: 83,753,982 (GRCm39) |
R226L |
probably damaging |
Het |
|
Other mutations in Emb |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01406:Emb
|
APN |
13 |
117,405,466 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01613:Emb
|
APN |
13 |
117,408,614 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01780:Emb
|
APN |
13 |
117,386,007 (GRCm39) |
unclassified |
probably benign |
|
IGL02350:Emb
|
APN |
13 |
117,386,007 (GRCm39) |
unclassified |
probably benign |
|
IGL02357:Emb
|
APN |
13 |
117,386,007 (GRCm39) |
unclassified |
probably benign |
|
IGL02728:Emb
|
APN |
13 |
117,369,301 (GRCm39) |
missense |
probably benign |
0.39 |
IGL02948:Emb
|
APN |
13 |
117,409,602 (GRCm39) |
utr 3 prime |
probably benign |
|
R0098:Emb
|
UTSW |
13 |
117,404,034 (GRCm39) |
missense |
probably damaging |
1.00 |
R0098:Emb
|
UTSW |
13 |
117,404,034 (GRCm39) |
missense |
probably damaging |
1.00 |
R0540:Emb
|
UTSW |
13 |
117,369,286 (GRCm39) |
missense |
possibly damaging |
0.81 |
R0607:Emb
|
UTSW |
13 |
117,369,286 (GRCm39) |
missense |
possibly damaging |
0.81 |
R1421:Emb
|
UTSW |
13 |
117,408,624 (GRCm39) |
missense |
probably benign |
0.00 |
R1749:Emb
|
UTSW |
13 |
117,386,242 (GRCm39) |
missense |
possibly damaging |
0.62 |
R2129:Emb
|
UTSW |
13 |
117,404,082 (GRCm39) |
missense |
probably damaging |
1.00 |
R3896:Emb
|
UTSW |
13 |
117,409,598 (GRCm39) |
makesense |
probably null |
|
R4371:Emb
|
UTSW |
13 |
117,405,466 (GRCm39) |
missense |
probably damaging |
1.00 |
R4990:Emb
|
UTSW |
13 |
117,401,046 (GRCm39) |
missense |
probably damaging |
1.00 |
R5398:Emb
|
UTSW |
13 |
117,404,088 (GRCm39) |
missense |
probably damaging |
0.97 |
R5949:Emb
|
UTSW |
13 |
117,403,928 (GRCm39) |
missense |
probably benign |
0.13 |
R6330:Emb
|
UTSW |
13 |
117,385,666 (GRCm39) |
splice site |
probably null |
|
R7221:Emb
|
UTSW |
13 |
117,404,013 (GRCm39) |
missense |
probably damaging |
1.00 |
R7479:Emb
|
UTSW |
13 |
117,385,962 (GRCm39) |
missense |
possibly damaging |
0.51 |
R7548:Emb
|
UTSW |
13 |
117,408,590 (GRCm39) |
missense |
possibly damaging |
0.94 |
R7557:Emb
|
UTSW |
13 |
117,386,252 (GRCm39) |
missense |
probably benign |
0.21 |
R7605:Emb
|
UTSW |
13 |
117,401,046 (GRCm39) |
missense |
probably damaging |
1.00 |
R9314:Emb
|
UTSW |
13 |
117,408,604 (GRCm39) |
missense |
probably damaging |
1.00 |
R9364:Emb
|
UTSW |
13 |
117,357,096 (GRCm39) |
intron |
probably benign |
|
R9366:Emb
|
UTSW |
13 |
117,357,096 (GRCm39) |
intron |
probably benign |
|
R9368:Emb
|
UTSW |
13 |
117,357,096 (GRCm39) |
intron |
probably benign |
|
R9369:Emb
|
UTSW |
13 |
117,357,096 (GRCm39) |
intron |
probably benign |
|
R9381:Emb
|
UTSW |
13 |
117,357,096 (GRCm39) |
intron |
probably benign |
|
|
Posted On |
2015-04-16 |