Incidental Mutation 'IGL02132:Gcm1'
ID |
281020 |
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 # |
IGL02132
|
Quality Score |
|
Status
|
|
Chromosome |
9 |
Chromosomal Location |
77959240-77972906 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to A
at 77972121 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Proline to Histidine
at position 354
(P354H)
|
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 |
possibly damaging
Transcript: ENSMUST00000024104
AA Change: P354H
PolyPhen 2
Score 0.948 (Sensitivity: 0.79; Specificity: 0.95)
|
SMART Domains |
Protein: ENSMUSP00000024104 Gene: ENSMUSG00000023333 AA Change: P354H
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: 37 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4921513I03Rik |
G |
A |
10: 120,614,635 (GRCm39) |
|
probably benign |
Het |
4930432E11Rik |
C |
T |
7: 29,262,704 (GRCm39) |
|
noncoding transcript |
Het |
Adcy10 |
T |
C |
1: 165,400,112 (GRCm39) |
V1507A |
probably damaging |
Het |
Ap3b2 |
T |
A |
7: 81,110,746 (GRCm39) |
M1010L |
unknown |
Het |
Bmp10 |
T |
C |
6: 87,411,130 (GRCm39) |
S308P |
probably benign |
Het |
Cnih3 |
C |
A |
1: 181,282,274 (GRCm39) |
Y169* |
probably null |
Het |
Cpsf4l |
A |
G |
11: 113,590,685 (GRCm39) |
S222P |
possibly damaging |
Het |
Cyp2d10 |
G |
A |
15: 82,288,808 (GRCm39) |
|
probably benign |
Het |
Dcstamp |
A |
T |
15: 39,617,928 (GRCm39) |
E112D |
probably damaging |
Het |
Fras1 |
C |
T |
5: 96,929,496 (GRCm39) |
Q3967* |
probably null |
Het |
Gen1 |
A |
G |
12: 11,291,867 (GRCm39) |
S706P |
probably benign |
Het |
Glb1l3 |
G |
T |
9: 26,736,466 (GRCm39) |
T532N |
probably benign |
Het |
Gm5069 |
T |
A |
1: 180,154,872 (GRCm39) |
|
probably benign |
Het |
Gzmc |
A |
C |
14: 56,471,422 (GRCm39) |
F40V |
probably benign |
Het |
Itgb2 |
G |
T |
10: 77,385,895 (GRCm39) |
C286F |
probably damaging |
Het |
Jak3 |
A |
G |
8: 72,131,124 (GRCm39) |
Y48C |
probably damaging |
Het |
Lrp2 |
G |
A |
2: 69,367,960 (GRCm39) |
S184L |
probably benign |
Het |
Myo1f |
T |
A |
17: 33,798,945 (GRCm39) |
N203K |
probably benign |
Het |
Nrxn2 |
G |
A |
19: 6,522,306 (GRCm39) |
G182R |
probably damaging |
Het |
Or4k15c |
T |
C |
14: 50,321,943 (GRCm39) |
N65S |
probably damaging |
Het |
Or4p8 |
A |
G |
2: 88,727,503 (GRCm39) |
V146A |
probably benign |
Het |
Or5g23 |
A |
C |
2: 85,438,664 (GRCm39) |
L197V |
probably benign |
Het |
Otog |
C |
T |
7: 45,954,903 (GRCm39) |
S2692L |
probably damaging |
Het |
Pde9a |
C |
T |
17: 31,672,444 (GRCm39) |
T34I |
probably benign |
Het |
Phip |
T |
C |
9: 82,763,394 (GRCm39) |
T1295A |
possibly damaging |
Het |
Pik3cb |
A |
G |
9: 98,953,430 (GRCm39) |
V451A |
probably benign |
Het |
Psd2 |
T |
G |
18: 36,137,809 (GRCm39) |
|
probably benign |
Het |
Pycr2 |
T |
C |
1: 180,733,762 (GRCm39) |
I118T |
probably damaging |
Het |
Rnf17 |
T |
G |
14: 56,658,623 (GRCm39) |
M104R |
probably benign |
Het |
Rp1l1 |
T |
C |
14: 64,266,259 (GRCm39) |
V615A |
probably benign |
Het |
Sel1l3 |
T |
A |
5: 53,327,747 (GRCm39) |
R511W |
possibly damaging |
Het |
Sis |
T |
C |
3: 72,854,804 (GRCm39) |
N478D |
probably benign |
Het |
Trps1 |
T |
A |
15: 50,685,674 (GRCm39) |
S584C |
probably damaging |
Het |
Vmn2r124 |
T |
C |
17: 18,284,491 (GRCm39) |
|
probably benign |
Het |
Vmn2r9 |
G |
A |
5: 108,991,502 (GRCm39) |
L620F |
probably damaging |
Het |
Zc3h13 |
T |
C |
14: 75,567,787 (GRCm39) |
S1027P |
probably benign |
Het |
Zfp644 |
A |
T |
5: 106,783,760 (GRCm39) |
I929K |
probably benign |
Het |
|
Other mutations in Gcm1 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00690:Gcm1
|
APN |
9 |
77,972,298 (GRCm39) |
missense |
probably benign |
0.09 |
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 |
2015-04-16 |