Incidental Mutation 'IGL01966:Emx2'
| ID |
181522 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Emx2
|
| Ensembl Gene |
ENSMUSG00000043969 |
| Gene Name |
empty spiracles homeobox 2 |
| Synonyms |
Pdo |
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
IGL01966
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
19 |
| Chromosomal Location |
59447122-59453789 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 59448021 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Asparagine
at position 24
(I24N)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000140271
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000062216]
[ENSMUST00000174353]
|
| AlphaFold |
Q04744 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000062216
AA Change: I125N
PolyPhen 2
Score 0.443 (Sensitivity: 0.89; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000053361
Gene: ENSMUSG00000043969
AA Change: I125N
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
76 |
109 |
N/A |
INTRINSIC |
|
HOX
|
155 |
217 |
1.32e-26 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000136990
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000174353
AA Change: I24N
PolyPhen 2
Score 0.827 (Sensitivity: 0.84; Specificity: 0.93)
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000174573
|
| 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 homeobox-containing transcription factor that is the homolog to the 'empty spiracles' gene in Drosophila. Research on this gene in humans has focused on its expression in three tissues: dorsal telencephalon, olfactory neuroepithelium, and urogenetial system. It is expressed in the dorsal telencephalon during development in a low rostral-lateral to high caudal-medial gradient and is proposed to pattern the neocortex into defined functional areas. It is also expressed in embryonic and adult olfactory neuroepithelia where it complexes with eukaryotic translation initiation factor 4E (eIF4E) and possibly regulates mRNA transport or translation. In the developing urogenital system, it is expressed in epithelial tissues and is negatively regulated by HOXA10. Alternative splicing results in multiple transcript variants encoding distinct proteins.[provided by RefSeq, Sep 2009]
PHENOTYPE: Homozygous disruption of this gene causes neonatal death, impaired urogenital development and malformation of several forebrain regions. Heterozygotes for a null allele show middle and inner ear defects. Homozygotes for an ENU-induced allele die neonatally with middle ear defects and small kidneys. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 34 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1500002C15Rik |
A |
G |
4: 155,818,526 (GRCm39) |
|
probably null |
Het |
| Acer2 |
T |
A |
4: 86,835,815 (GRCm39) |
*230R |
probably null |
Het |
| Adamts12 |
A |
G |
15: 11,258,269 (GRCm39) |
K527E |
probably damaging |
Het |
| Anks1b |
C |
A |
10: 90,730,994 (GRCm39) |
R937S |
probably damaging |
Het |
| C2cd5 |
G |
T |
6: 142,957,767 (GRCm39) |
C989* |
probably null |
Het |
| Calhm5 |
T |
C |
10: 33,972,129 (GRCm39) |
H102R |
probably benign |
Het |
| Col14a1 |
A |
G |
15: 55,312,121 (GRCm39) |
|
probably benign |
Het |
| Cramp1 |
T |
A |
17: 25,201,917 (GRCm39) |
T522S |
probably benign |
Het |
| Cyp2c70 |
A |
T |
19: 40,142,016 (GRCm39) |
|
probably benign |
Het |
| Elmod1 |
T |
A |
9: 53,828,611 (GRCm39) |
I224F |
probably benign |
Het |
| Fga |
A |
T |
3: 82,936,461 (GRCm39) |
I86F |
probably damaging |
Het |
| Fig4 |
C |
A |
10: 41,108,098 (GRCm39) |
|
probably null |
Het |
| Gm10234 |
T |
C |
6: 95,299,118 (GRCm39) |
|
probably null |
Het |
| Gm12588 |
A |
T |
11: 121,797,561 (GRCm39) |
I96N |
probably benign |
Het |
| Grm3 |
A |
G |
5: 9,561,486 (GRCm39) |
I788T |
probably damaging |
Het |
| Homer3 |
A |
G |
8: 70,742,807 (GRCm39) |
K173E |
probably damaging |
Het |
| Kansl1l |
A |
G |
1: 66,777,227 (GRCm39) |
V635A |
probably damaging |
Het |
| Kctd3 |
C |
T |
1: 188,724,859 (GRCm39) |
G241R |
probably damaging |
Het |
| Krt8 |
G |
T |
15: 101,906,105 (GRCm39) |
S423R |
probably benign |
Het |
| Lrrc24 |
C |
A |
15: 76,602,511 (GRCm39) |
A125S |
probably benign |
Het |
| Muc4 |
T |
C |
16: 32,570,244 (GRCm39) |
S435P |
possibly damaging |
Het |
| Nfkb2 |
G |
A |
19: 46,298,129 (GRCm39) |
G502D |
probably benign |
Het |
| Nlrp6 |
G |
A |
7: 140,505,103 (GRCm39) |
C750Y |
probably damaging |
Het |
| Or8b1b |
A |
T |
9: 38,376,225 (GRCm39) |
D296V |
possibly damaging |
Het |
| Oxsm |
T |
C |
14: 16,242,520 (GRCm38) |
N83S |
probably benign |
Het |
| Paqr3 |
A |
G |
5: 97,247,502 (GRCm39) |
L202P |
probably benign |
Het |
| Pcdh10 |
T |
A |
3: 45,334,733 (GRCm39) |
L349Q |
probably benign |
Het |
| Ptdss2 |
A |
G |
7: 140,715,304 (GRCm39) |
T29A |
possibly damaging |
Het |
| Rbbp8nl |
G |
A |
2: 179,922,782 (GRCm39) |
|
probably benign |
Het |
| Rc3h2 |
A |
G |
2: 37,272,789 (GRCm39) |
|
probably benign |
Het |
| Ric1 |
A |
T |
19: 29,572,963 (GRCm39) |
Y801F |
probably benign |
Het |
| Sgcz |
A |
T |
8: 38,107,169 (GRCm39) |
S114R |
probably damaging |
Het |
| Tenm4 |
A |
G |
7: 96,202,757 (GRCm39) |
D124G |
probably damaging |
Het |
| Zscan22 |
T |
G |
7: 12,640,398 (GRCm39) |
M214R |
probably benign |
Het |
|
| Other mutations in Emx2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02103:Emx2
|
APN |
19 |
59,450,130 (GRCm39) |
missense |
probably benign |
0.22 |
|
R0446:Emx2
|
UTSW |
19 |
59,452,348 (GRCm39) |
nonsense |
probably null |
|
|
R0631:Emx2
|
UTSW |
19 |
59,452,460 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1194:Emx2
|
UTSW |
19 |
59,447,984 (GRCm39) |
nonsense |
probably null |
|
|
R1512:Emx2
|
UTSW |
19 |
59,448,035 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R1526:Emx2
|
UTSW |
19 |
59,452,442 (GRCm39) |
missense |
probably benign |
0.05 |
|
R2019:Emx2
|
UTSW |
19 |
59,447,771 (GRCm39) |
missense |
probably benign |
|
|
R2066:Emx2
|
UTSW |
19 |
59,450,130 (GRCm39) |
missense |
probably benign |
0.01 |
|
R2133:Emx2
|
UTSW |
19 |
59,452,465 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4977:Emx2
|
UTSW |
19 |
59,447,678 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5884:Emx2
|
UTSW |
19 |
59,452,461 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8823:Emx2
|
UTSW |
19 |
59,447,880 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9644:Emx2
|
UTSW |
19 |
59,452,427 (GRCm39) |
missense |
probably benign |
0.20 |
|
R9799:Emx2
|
UTSW |
19 |
59,448,036 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
| Posted On |
2014-05-07 |
Incidental Mutation