Incidental Mutation 'R4371:Emb'
ID |
371135 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Emb
|
Ensembl Gene |
ENSMUSG00000021728 |
Gene Name |
embigin |
Synonyms |
Gp70 |
MMRRC Submission |
041117-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.084)
|
Stock # |
R4371 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
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 |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.1%
- 20x: 94.8%
|
Validation Efficiency |
100% (41/41) |
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: 35 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Alg11 |
C |
A |
8: 22,558,095 (GRCm39) |
A469E |
probably benign |
Het |
Alox12b |
G |
A |
11: 69,060,442 (GRCm39) |
R666H |
possibly damaging |
Het |
Atp9a |
T |
C |
2: 168,491,535 (GRCm39) |
T677A |
probably damaging |
Het |
B4galt3 |
C |
A |
1: 171,101,613 (GRCm39) |
H196N |
probably damaging |
Het |
Bckdk |
C |
T |
7: 127,505,591 (GRCm39) |
A238V |
probably benign |
Het |
Brpf3 |
C |
T |
17: 29,055,594 (GRCm39) |
A1181V |
probably damaging |
Het |
C9 |
A |
G |
15: 6,520,965 (GRCm39) |
D470G |
probably damaging |
Het |
Camsap2 |
A |
G |
1: 136,215,701 (GRCm39) |
F337L |
probably damaging |
Het |
Cep152 |
G |
A |
2: 125,454,967 (GRCm39) |
R278W |
probably damaging |
Het |
Cfb |
T |
C |
17: 35,079,290 (GRCm39) |
K287R |
probably damaging |
Het |
Chfr |
G |
A |
5: 110,284,034 (GRCm39) |
R36H |
probably damaging |
Het |
Cyp4f14 |
T |
C |
17: 33,128,232 (GRCm39) |
N261S |
probably benign |
Het |
Drp2 |
A |
T |
X: 133,335,884 (GRCm39) |
|
probably benign |
Het |
Dzip3 |
A |
G |
16: 48,763,818 (GRCm39) |
|
probably null |
Het |
Epha1 |
T |
C |
6: 42,342,391 (GRCm39) |
Y319C |
probably damaging |
Het |
Flcn |
C |
T |
11: 59,694,610 (GRCm39) |
V121I |
possibly damaging |
Het |
Glrp1 |
GTGCTGCTGCTGCTGCTGCTGCTGCTG |
GTGCTGCTGCTGCTGCTGCTGCTGCTGCTG |
1: 88,430,997 (GRCm39) |
|
probably benign |
Het |
Gm6177 |
A |
T |
1: 160,720,741 (GRCm39) |
|
noncoding transcript |
Het |
Hepacam2 |
A |
T |
6: 3,486,988 (GRCm39) |
V123E |
probably damaging |
Het |
Iqsec1 |
A |
G |
6: 90,671,588 (GRCm39) |
S194P |
probably damaging |
Het |
Kat6a |
T |
C |
8: 23,401,945 (GRCm39) |
I438T |
possibly damaging |
Het |
Kcnmb2 |
A |
G |
3: 32,210,251 (GRCm39) |
|
probably null |
Het |
Nbeal1 |
A |
T |
1: 60,329,105 (GRCm39) |
K2174N |
possibly damaging |
Het |
Ncapg |
G |
A |
5: 45,835,797 (GRCm39) |
M409I |
probably benign |
Het |
Ocstamp |
A |
G |
2: 165,239,233 (GRCm39) |
S318P |
possibly damaging |
Het |
Or5p79 |
C |
T |
7: 108,221,096 (GRCm39) |
L26F |
probably benign |
Het |
Phactr2 |
A |
G |
10: 13,129,564 (GRCm39) |
S235P |
probably damaging |
Het |
Pom121l2 |
T |
C |
13: 22,166,409 (GRCm39) |
S227P |
probably benign |
Het |
Sdf2 |
C |
T |
11: 78,141,863 (GRCm39) |
T66I |
probably damaging |
Het |
Sptbn5 |
A |
G |
2: 119,896,475 (GRCm39) |
C729R |
probably damaging |
Het |
Sys1 |
T |
C |
2: 164,303,315 (GRCm39) |
W10R |
probably damaging |
Het |
Tfap4 |
A |
G |
16: 4,369,863 (GRCm39) |
I4T |
probably damaging |
Het |
Thrb |
C |
A |
14: 18,030,275 (GRCm38) |
Q340K |
probably damaging |
Het |
Tnc |
T |
C |
4: 63,888,588 (GRCm39) |
Y1735C |
probably damaging |
Het |
Ubr1 |
A |
T |
2: 120,725,547 (GRCm39) |
|
probably null |
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 |
|
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 |
|
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 |
|
|
Predicted Primers |
PCR Primer
(F):5'- CACGTTGCCAAACAGCTCTTG -3'
(R):5'- TGGAGGGGTAGACTGTATACC -3'
Sequencing Primer
(F):5'- CAGCTCTTGATTAGAGATCCAGG -3'
(R):5'- GGGTAGACTGTATACCAAACTTCAGC -3'
|
Posted On |
2016-02-25 |