Incidental Mutation 'R3103:Gcm1'
ID |
262908 |
Institutional Source |
Beutler Lab
|
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 |
MMRRC Submission |
040577-MU
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R3103 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
9 |
Chromosomal Location |
77959240-77972906 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 77971734 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Asparagine to Serine
at position 225
(N225S)
|
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 damaging
Transcript: ENSMUST00000024104
AA Change: N225S
PolyPhen 2
Score 0.978 (Sensitivity: 0.76; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000024104 Gene: ENSMUSG00000023333 AA Change: N225S
Domain | Start | End | E-Value | Type |
Pfam:GCM
|
30 |
167 |
4.2e-75 |
PFAM |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000217247
|
Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.6%
- 10x: 97.4%
- 20x: 95.4%
|
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: 46 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Acp7 |
A |
G |
7: 28,310,409 (GRCm39) |
|
probably null |
Het |
Adap2 |
G |
T |
11: 80,047,859 (GRCm39) |
C105F |
probably damaging |
Het |
Bace2 |
T |
C |
16: 97,223,201 (GRCm39) |
|
probably null |
Het |
Bpifc |
A |
G |
10: 85,829,286 (GRCm39) |
S94P |
probably damaging |
Het |
C2cd3 |
A |
G |
7: 100,044,459 (GRCm39) |
D347G |
possibly damaging |
Het |
Cad |
T |
C |
5: 31,219,018 (GRCm39) |
V613A |
possibly damaging |
Het |
Ccdc47 |
T |
C |
11: 106,093,667 (GRCm39) |
H6R |
probably benign |
Het |
Celsr3 |
A |
G |
9: 108,714,338 (GRCm39) |
T1956A |
probably benign |
Het |
Cep128 |
T |
A |
12: 90,986,118 (GRCm39) |
D1006V |
probably damaging |
Het |
Cog3 |
T |
C |
14: 75,984,641 (GRCm39) |
|
probably null |
Het |
Csmd1 |
C |
T |
8: 15,967,405 (GRCm39) |
V3153M |
probably damaging |
Het |
Ctnna2 |
T |
C |
6: 77,630,127 (GRCm39) |
E122G |
possibly damaging |
Het |
Cts8 |
T |
A |
13: 61,398,772 (GRCm39) |
I245F |
probably damaging |
Het |
Ddx27 |
T |
A |
2: 166,868,166 (GRCm39) |
V333E |
probably damaging |
Het |
Dmpk |
A |
G |
7: 18,821,579 (GRCm39) |
Y279C |
probably damaging |
Het |
Dpagt1 |
A |
G |
9: 44,239,292 (GRCm39) |
I111V |
probably benign |
Het |
Dvl2 |
C |
A |
11: 69,899,695 (GRCm39) |
P546T |
possibly damaging |
Het |
Fat4 |
G |
T |
3: 38,946,089 (GRCm39) |
A1661S |
probably benign |
Het |
Gcnt2 |
A |
T |
13: 41,072,082 (GRCm39) |
M242L |
probably benign |
Het |
Golgb1 |
A |
G |
16: 36,715,211 (GRCm39) |
R226G |
probably damaging |
Het |
Gpr63 |
G |
A |
4: 25,007,353 (GRCm39) |
V26I |
probably benign |
Het |
Grik2 |
A |
G |
10: 49,116,868 (GRCm39) |
L631P |
probably damaging |
Het |
Hapln3 |
T |
C |
7: 78,771,484 (GRCm39) |
D135G |
probably benign |
Het |
Il31ra |
C |
A |
13: 112,666,885 (GRCm39) |
V398F |
probably damaging |
Het |
Ipp |
G |
T |
4: 116,381,446 (GRCm39) |
R315L |
possibly damaging |
Het |
Kcmf1 |
A |
G |
6: 72,838,830 (GRCm39) |
L32P |
probably damaging |
Het |
Klf17 |
T |
A |
4: 117,617,805 (GRCm39) |
Q184L |
possibly damaging |
Het |
Lrp2 |
C |
T |
2: 69,262,328 (GRCm39) |
V4442I |
probably benign |
Het |
Lrrfip2 |
A |
T |
9: 111,051,278 (GRCm39) |
E293D |
probably damaging |
Het |
Oit3 |
A |
G |
10: 59,274,713 (GRCm39) |
I29T |
probably damaging |
Het |
Or1a1 |
G |
A |
11: 74,086,901 (GRCm39) |
D191N |
probably benign |
Het |
Or1j21 |
T |
C |
2: 36,683,574 (GRCm39) |
C109R |
possibly damaging |
Het |
Or51h1 |
T |
C |
7: 102,308,688 (GRCm39) |
V220A |
probably benign |
Het |
Plb1 |
T |
A |
5: 32,485,373 (GRCm39) |
M842K |
possibly damaging |
Het |
Ppt1 |
T |
C |
4: 122,730,100 (GRCm39) |
C18R |
probably benign |
Het |
Pstpip2 |
T |
C |
18: 77,959,477 (GRCm39) |
Y191H |
probably damaging |
Het |
Ryr1 |
C |
T |
7: 28,774,373 (GRCm39) |
V2361I |
probably damaging |
Het |
Serpinb11 |
A |
G |
1: 107,305,338 (GRCm39) |
N238S |
probably benign |
Het |
Skor2 |
A |
T |
18: 76,946,973 (GRCm39) |
K232* |
probably null |
Het |
Slc13a5 |
A |
T |
11: 72,148,214 (GRCm39) |
W231R |
probably damaging |
Het |
Svs5 |
A |
T |
2: 164,175,313 (GRCm39) |
E55V |
probably benign |
Het |
Tfcp2 |
A |
T |
15: 100,423,481 (GRCm39) |
W142R |
probably damaging |
Het |
Trpc2 |
A |
T |
7: 101,744,441 (GRCm39) |
I738F |
possibly damaging |
Het |
Vmn2r61 |
T |
A |
7: 41,916,067 (GRCm39) |
S227T |
possibly damaging |
Het |
Zfhx4 |
A |
G |
3: 5,464,386 (GRCm39) |
T1540A |
probably damaging |
Het |
Zfp616 |
A |
G |
11: 73,962,561 (GRCm39) |
T74A |
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 |
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 |
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 |
|
Predicted Primers |
PCR Primer
(F):5'- TGCAGAATAACTCAGGGGTGC -3'
(R):5'- AAGTTTGCAGGTCTTCGTAGTCTC -3'
Sequencing Primer
(F):5'- TGCCTGGGGTAGCCATG -3'
(R):5'- TAGTCTCCATACGTCCCAGGG -3'
|
Posted On |
2015-02-05 |