Incidental Mutation 'IGL01406:Emb'
ID |
79812 |
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 # |
IGL01406
|
Quality Score |
|
Status
|
|
Chromosome |
13 |
Chromosomal Location |
117357109-117410951 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to T
at 117405466 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Aspartic acid to Valine
at position 296
(D296V)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000022242
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000022242]
|
AlphaFold |
P21995 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000022242
AA Change: D296V
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000022242 Gene: ENSMUSG00000021728 AA Change: D296V
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
|
Meta Mutation Damage Score |
0.1839 |
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: 31 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adam22 |
G |
A |
5: 8,180,212 (GRCm39) |
Q558* |
probably null |
Het |
Adam29 |
A |
T |
8: 56,324,874 (GRCm39) |
Y527N |
probably damaging |
Het |
Atm |
T |
C |
9: 53,351,046 (GRCm39) |
*3067W |
probably null |
Het |
B3galt2 |
A |
T |
1: 143,522,844 (GRCm39) |
I327L |
possibly damaging |
Het |
Cadm2 |
C |
A |
16: 66,612,192 (GRCm39) |
|
probably null |
Het |
Cd6 |
G |
T |
19: 10,768,501 (GRCm39) |
A496E |
possibly damaging |
Het |
Cdh16 |
A |
T |
8: 105,345,044 (GRCm39) |
I415N |
possibly damaging |
Het |
Ces1b |
T |
C |
8: 93,798,622 (GRCm39) |
N188S |
probably damaging |
Het |
Col4a1 |
T |
C |
8: 11,268,898 (GRCm39) |
D980G |
probably damaging |
Het |
Dmgdh |
G |
A |
13: 93,823,539 (GRCm39) |
|
probably benign |
Het |
Fbln2 |
T |
C |
6: 91,243,374 (GRCm39) |
S917P |
probably damaging |
Het |
Fmnl1 |
T |
C |
11: 103,085,516 (GRCm39) |
|
probably benign |
Het |
Frem2 |
T |
C |
3: 53,433,317 (GRCm39) |
Y2669C |
probably damaging |
Het |
Gm3115 |
T |
A |
14: 4,087,137 (GRCm38) |
|
probably benign |
Het |
Hnf1b |
C |
T |
11: 83,779,950 (GRCm39) |
P402S |
probably benign |
Het |
Il7r |
T |
A |
15: 9,508,300 (GRCm39) |
R341* |
probably null |
Het |
Krt75 |
T |
C |
15: 101,476,460 (GRCm39) |
Y435C |
probably damaging |
Het |
Malrd1 |
G |
A |
2: 16,106,768 (GRCm39) |
|
probably null |
Het |
Musk |
T |
C |
4: 58,367,539 (GRCm39) |
Y578H |
probably damaging |
Het |
Naa20 |
A |
G |
2: 145,757,726 (GRCm39) |
|
probably null |
Het |
Ncoa7 |
T |
C |
10: 30,566,836 (GRCm39) |
D565G |
probably damaging |
Het |
Pgap1 |
C |
T |
1: 54,572,573 (GRCm39) |
|
probably null |
Het |
Plekha5 |
G |
A |
6: 140,518,676 (GRCm39) |
R172H |
probably damaging |
Het |
Snx17 |
A |
G |
5: 31,353,338 (GRCm39) |
Y77C |
probably damaging |
Het |
Spdye4b |
C |
T |
5: 143,188,166 (GRCm39) |
P220S |
probably benign |
Het |
Tbx18 |
T |
A |
9: 87,595,596 (GRCm39) |
D326V |
probably damaging |
Het |
Tlr12 |
A |
T |
4: 128,510,132 (GRCm39) |
L706* |
probably null |
Het |
Tnfrsf21 |
T |
A |
17: 43,348,837 (GRCm39) |
C150S |
probably damaging |
Het |
Togaram1 |
A |
G |
12: 65,042,352 (GRCm39) |
D1187G |
possibly damaging |
Het |
Trav5-1 |
T |
C |
14: 52,860,444 (GRCm39) |
L83P |
probably damaging |
Het |
Vmn2r75 |
T |
A |
7: 85,812,500 (GRCm39) |
|
probably benign |
Het |
|
Other mutations in Emb |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01613:Emb
|
APN |
13 |
117,408,614 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01780:Emb
|
APN |
13 |
117,386,007 (GRCm39) |
unclassified |
probably benign |
|
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 |
2013-11-05 |