Incidental Mutation 'IGL01780:Emb'
ID |
154175 |
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 # |
IGL01780
|
Quality Score |
|
Status
|
|
Chromosome |
13 |
Chromosomal Location |
117357109-117410951 bp(+) (GRCm39) |
Type of Mutation |
unclassified |
DNA Base Change (assembly) |
A to G
at 117386007 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Ref Sequence |
ENSEMBL: ENSMUSP00000153512
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000022242]
[ENSMUST00000225981]
|
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
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000225981
|
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: 40 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abhd8 |
A |
G |
8: 71,914,121 (GRCm39) |
V169A |
probably benign |
Het |
Aopep |
A |
G |
13: 63,357,939 (GRCm39) |
N648D |
probably benign |
Het |
BC024139 |
C |
A |
15: 76,005,343 (GRCm39) |
L506F |
probably benign |
Het |
Bltp3a |
T |
C |
17: 28,112,474 (GRCm39) |
L1221P |
probably damaging |
Het |
Cfap65 |
A |
T |
1: 74,967,507 (GRCm39) |
C190* |
probably null |
Het |
Cib2 |
A |
T |
9: 54,457,170 (GRCm39) |
H31Q |
probably damaging |
Het |
Eml6 |
T |
C |
11: 29,755,175 (GRCm39) |
M867V |
probably benign |
Het |
Flnc |
A |
T |
6: 29,438,492 (GRCm39) |
K129* |
probably null |
Het |
Gckr |
C |
A |
5: 31,465,134 (GRCm39) |
H368N |
possibly damaging |
Het |
Gmds |
A |
T |
13: 32,409,145 (GRCm39) |
Y106* |
probably null |
Het |
Homez |
T |
C |
14: 55,095,355 (GRCm39) |
T118A |
probably damaging |
Het |
Kcnh7 |
G |
A |
2: 62,667,507 (GRCm39) |
T344I |
probably benign |
Het |
Kcnt2 |
A |
G |
1: 140,279,007 (GRCm39) |
I53V |
probably benign |
Het |
Krt13 |
A |
T |
11: 100,010,539 (GRCm39) |
L207Q |
probably damaging |
Het |
Lipo2 |
A |
G |
19: 33,708,348 (GRCm39) |
L222P |
possibly damaging |
Het |
Lrp2 |
A |
C |
2: 69,316,528 (GRCm39) |
V2151G |
possibly damaging |
Het |
Mrc2 |
A |
G |
11: 105,216,547 (GRCm39) |
D112G |
probably damaging |
Het |
Mrgpra6 |
T |
C |
7: 46,838,497 (GRCm39) |
T234A |
probably damaging |
Het |
Mroh2b |
A |
G |
15: 4,941,482 (GRCm39) |
N338S |
probably benign |
Het |
Mrpl23 |
T |
A |
7: 142,089,802 (GRCm39) |
|
probably benign |
Het |
Myo18a |
A |
G |
11: 77,741,073 (GRCm39) |
N1442S |
probably benign |
Het |
Nxn |
A |
G |
11: 76,165,480 (GRCm39) |
|
probably benign |
Het |
Or8w1 |
T |
C |
2: 87,465,424 (GRCm39) |
I222M |
possibly damaging |
Het |
Osmr |
A |
T |
15: 6,858,144 (GRCm39) |
N441K |
probably benign |
Het |
Patl2 |
A |
C |
2: 121,952,327 (GRCm39) |
S468R |
probably damaging |
Het |
Pcdhb1 |
T |
C |
18: 37,399,575 (GRCm39) |
S509P |
probably damaging |
Het |
Pmp22 |
G |
T |
11: 63,049,134 (GRCm39) |
V126F |
probably benign |
Het |
Prom1 |
A |
G |
5: 44,186,946 (GRCm39) |
|
probably benign |
Het |
Prss1 |
C |
A |
6: 41,440,139 (GRCm39) |
Q159K |
probably damaging |
Het |
Psd3 |
G |
T |
8: 68,416,521 (GRCm39) |
H459N |
probably benign |
Het |
Rasgrp1 |
A |
G |
2: 117,115,359 (GRCm39) |
L743P |
probably benign |
Het |
Rpusd4 |
G |
A |
9: 35,179,720 (GRCm39) |
R71Q |
probably damaging |
Het |
Rsf1 |
C |
T |
7: 97,313,977 (GRCm39) |
|
probably benign |
Het |
Scaf11 |
T |
C |
15: 96,318,725 (GRCm39) |
T280A |
possibly damaging |
Het |
Slc16a4 |
A |
G |
3: 107,210,415 (GRCm39) |
I362V |
probably benign |
Het |
Syt16 |
T |
C |
12: 74,313,616 (GRCm39) |
V514A |
probably benign |
Het |
Tdpoz2 |
A |
G |
3: 93,559,735 (GRCm39) |
V79A |
possibly damaging |
Het |
Tenm2 |
A |
G |
11: 35,937,768 (GRCm39) |
M1635T |
probably benign |
Het |
Vmn1r195 |
A |
G |
13: 22,463,255 (GRCm39) |
T242A |
probably benign |
Het |
Zfp423 |
A |
G |
8: 88,508,136 (GRCm39) |
V736A |
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 |
IGL02187:Emb
|
APN |
13 |
117,405,507 (GRCm39) |
splice site |
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 |
2014-02-04 |