Incidental Mutation 'R1271:Gcm1'
| ID |
151314 |
| 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 |
039337-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R1271 (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 77966859 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Asparagine to Serine
at position 26
(N26S)
|
| 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: N26S
PolyPhen 2
Score 0.053 (Sensitivity: 0.94; Specificity: 0.84)
|
| SMART Domains |
Protein: ENSMUSP00000024104
Gene: ENSMUSG00000023333
AA Change: N26S
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:GCM
|
30 |
167 |
4.2e-75 |
PFAM |
|
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.4%
- 10x: 96.5%
- 20x: 93.3%
|
| 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: 29 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700019D03Rik |
A |
T |
1: 52,964,493 (GRCm39) |
D78E |
possibly damaging |
Het |
| 4930447C04Rik |
A |
T |
12: 72,939,657 (GRCm39) |
F419I |
possibly damaging |
Het |
| Abca14 |
T |
C |
7: 119,924,340 (GRCm39) |
V1664A |
probably damaging |
Het |
| Acadvl |
A |
G |
11: 69,905,526 (GRCm39) |
S71P |
probably damaging |
Het |
| Adcy2 |
A |
T |
13: 68,790,617 (GRCm39) |
C916S |
probably damaging |
Het |
| Atad2 |
T |
C |
15: 57,989,985 (GRCm39) |
T164A |
probably benign |
Het |
| Ccdc18 |
A |
T |
5: 108,349,982 (GRCm39) |
K1045* |
probably null |
Het |
| Cemip2 |
T |
A |
19: 21,801,268 (GRCm39) |
I795N |
possibly damaging |
Het |
| Cfap43 |
C |
T |
19: 47,728,183 (GRCm39) |
E1525K |
probably benign |
Het |
| Cfap43 |
G |
T |
19: 47,736,387 (GRCm39) |
S1368Y |
probably damaging |
Het |
| Csmd3 |
T |
A |
15: 47,874,455 (GRCm39) |
I610L |
probably benign |
Het |
| Des |
A |
T |
1: 75,337,290 (GRCm39) |
T77S |
probably benign |
Het |
| Fnip1 |
T |
C |
11: 54,394,123 (GRCm39) |
V853A |
probably benign |
Het |
| Gabrg1 |
T |
A |
5: 70,934,487 (GRCm39) |
D292V |
probably damaging |
Het |
| Gpsm1 |
G |
T |
2: 26,234,684 (GRCm39) |
R507L |
probably damaging |
Het |
| H2-M1 |
T |
A |
17: 36,982,137 (GRCm39) |
T155S |
probably benign |
Het |
| Hapln3 |
T |
C |
7: 78,767,764 (GRCm39) |
D210G |
probably damaging |
Het |
| Magel2 |
T |
C |
7: 62,030,762 (GRCm39) |
L1222P |
unknown |
Het |
| Mphosph10 |
A |
T |
7: 64,039,832 (GRCm39) |
|
probably null |
Het |
| Mup6 |
A |
T |
4: 60,003,579 (GRCm39) |
|
probably benign |
Het |
| Nsmce1 |
T |
A |
7: 125,070,426 (GRCm39) |
E128D |
probably damaging |
Het |
| Or4c11 |
T |
A |
2: 88,695,475 (GRCm39) |
Y175* |
probably null |
Het |
| Rif1 |
GCCACCA |
GCCA |
2: 52,000,336 (GRCm39) |
|
probably benign |
Het |
| Shf |
G |
A |
2: 122,199,163 (GRCm39) |
P51S |
probably damaging |
Het |
| Sorbs2 |
T |
A |
8: 46,249,004 (GRCm39) |
S733T |
probably damaging |
Het |
| Stxbp5 |
A |
T |
10: 9,692,013 (GRCm39) |
I377K |
probably damaging |
Het |
| Tnfsf4 |
T |
A |
1: 161,223,274 (GRCm39) |
L41Q |
probably damaging |
Het |
| Tut7 |
A |
C |
13: 59,969,669 (GRCm39) |
N75K |
probably damaging |
Het |
| Usp28 |
G |
A |
9: 48,947,261 (GRCm39) |
|
probably null |
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- TCCTCTTAGTGCAGTGACCAAATGC -3'
(R):5'- CAGGTAAATCTTGCGGCCTTCCTC -3'
Sequencing Primer
(F):5'- catccaagaccatcagaaaacac -3'
(R):5'- TCTGTGGAGCAGTCCCTG -3'
|
| Posted On |
2014-01-29 |
Incidental Mutation