Incidental Mutation 'IGL00690:Gcm1'
| ID |
10940 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Gcm1
|
| Ensembl Gene |
ENSMUSG00000023333 |
| Gene Name |
glial cells missing homolog 1 |
| Synonyms |
glial cell deficient, Gcm 1, Gcm a, GCMa, glide, Gcm1-rs1 |
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
IGL00690
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
9 |
| Chromosomal Location |
77959240-77972906 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 77972298 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Valine
at position 413
(D413V)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000024104
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000024104]
|
| AlphaFold |
P70348 |
| PDB Structure |
STRUCTURE OF THE GCM DOMAIN BOUND TO DNA [X-RAY DIFFRACTION]
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000024104
AA Change: D413V
PolyPhen 2
Score 0.090 (Sensitivity: 0.93; Specificity: 0.85)
|
| SMART Domains |
Protein: ENSMUSP00000024104
Gene: ENSMUSG00000023333
AA Change: D413V
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:GCM
|
30 |
167 |
4.2e-75 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000217247
|
| 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 DNA-binding protein with a gcm-motif (glial cell missing motif). The encoded protein is a homolog of the Drosophila glial cells missing gene (gcm). This protein binds to the GCM-motif (A/G)CCCGCAT, a novel sequence among known targets of DNA-binding proteins. The N-terminal DNA-binding domain confers the unique DNA-binding activity of this protein. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygotes for targeted null mutations exhibit impaired branching of the chorioallantoic interface, absence of the placental labyrinth, lack of fusion of chorionic trophoblast cells, and lethality between embryonic days 5.5-10. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 16 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 3110009E18Rik |
T |
C |
1: 120,078,336 (GRCm39) |
|
probably benign |
Het |
| Adcy8 |
A |
G |
15: 64,571,151 (GRCm39) |
V1164A |
probably damaging |
Het |
| Arhgef9 |
C |
T |
X: 94,125,285 (GRCm39) |
C177Y |
probably damaging |
Het |
| Ascc3 |
C |
T |
10: 50,576,039 (GRCm39) |
Q765* |
probably null |
Het |
| Brwd1 |
A |
G |
16: 95,818,786 (GRCm39) |
Y1349H |
probably damaging |
Het |
| Cep57 |
A |
T |
9: 13,730,312 (GRCm39) |
N48K |
probably damaging |
Het |
| Crlf3 |
A |
G |
11: 79,950,163 (GRCm39) |
S156P |
probably damaging |
Het |
| Edn2 |
G |
A |
4: 120,020,649 (GRCm39) |
R92H |
probably damaging |
Het |
| Eml2 |
T |
A |
7: 18,940,068 (GRCm39) |
W647R |
probably damaging |
Het |
| Med1 |
A |
C |
11: 98,060,226 (GRCm39) |
D234E |
possibly damaging |
Het |
| Nfatc4 |
T |
C |
14: 56,070,019 (GRCm39) |
F729S |
probably damaging |
Het |
| Pcbd1 |
T |
C |
10: 60,928,469 (GRCm39) |
|
probably benign |
Het |
| Pramel28 |
G |
T |
4: 143,692,392 (GRCm39) |
P203Q |
possibly damaging |
Het |
| Serpina3c |
A |
T |
12: 104,118,198 (GRCm39) |
L47M |
possibly damaging |
Het |
| Strn3 |
T |
C |
12: 51,657,221 (GRCm39) |
I631V |
possibly damaging |
Het |
| Trp53bp1 |
A |
G |
2: 121,066,476 (GRCm39) |
I750T |
probably damaging |
Het |
|
| Other mutations in Gcm1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02132:Gcm1
|
APN |
9 |
77,972,121 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
IGL02820:Gcm1
|
APN |
9 |
77,971,844 (GRCm39) |
missense |
probably benign |
|
|
IGL03074:Gcm1
|
APN |
9 |
77,972,057 (GRCm39) |
missense |
possibly damaging |
0.84 |
|
PIT4280001:Gcm1
|
UTSW |
9 |
77,966,915 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0720:Gcm1
|
UTSW |
9 |
77,971,923 (GRCm39) |
missense |
possibly damaging |
0.68 |
|
R1271:Gcm1
|
UTSW |
9 |
77,966,859 (GRCm39) |
missense |
probably benign |
0.05 |
|
R1421:Gcm1
|
UTSW |
9 |
77,966,982 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1481:Gcm1
|
UTSW |
9 |
77,966,999 (GRCm39) |
nonsense |
probably null |
|
|
R1884:Gcm1
|
UTSW |
9 |
77,966,861 (GRCm39) |
missense |
probably benign |
0.01 |
|
R1907:Gcm1
|
UTSW |
9 |
77,972,055 (GRCm39) |
missense |
probably benign |
0.00 |
|
R2029:Gcm1
|
UTSW |
9 |
77,972,326 (GRCm39) |
missense |
possibly damaging |
0.70 |
|
R2160:Gcm1
|
UTSW |
9 |
77,968,662 (GRCm39) |
missense |
probably benign |
0.05 |
|
R3103:Gcm1
|
UTSW |
9 |
77,971,734 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R3944:Gcm1
|
UTSW |
9 |
77,967,098 (GRCm39) |
nonsense |
probably null |
|
|
R5292:Gcm1
|
UTSW |
9 |
77,968,708 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5769:Gcm1
|
UTSW |
9 |
77,972,249 (GRCm39) |
missense |
probably benign |
|
|
R6446:Gcm1
|
UTSW |
9 |
77,967,065 (GRCm39) |
missense |
probably benign |
0.08 |
|
R6465:Gcm1
|
UTSW |
9 |
77,972,151 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7114:Gcm1
|
UTSW |
9 |
77,967,061 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7212:Gcm1
|
UTSW |
9 |
77,966,925 (GRCm39) |
missense |
possibly damaging |
0.84 |
|
R7398:Gcm1
|
UTSW |
9 |
77,971,961 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7584:Gcm1
|
UTSW |
9 |
77,971,749 (GRCm39) |
missense |
possibly damaging |
0.62 |
|
R8130:Gcm1
|
UTSW |
9 |
77,971,816 (GRCm39) |
missense |
probably benign |
0.01 |
|
| Posted On |
2012-12-06 |
Incidental Mutation