Incidental Mutation 'IGL01612:Gmnc'
| ID |
92162 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Gmnc
|
| Ensembl Gene |
ENSMUSG00000068428 |
| Gene Name |
geminin coiled-coil domain containing |
| Synonyms |
Gm606, LOC239789, LOC385639 |
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
IGL01612
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
16 |
| Chromosomal Location |
26775985-26810424 bp(-) (GRCm39) |
| Type of Mutation |
nonsense |
| DNA Base Change (assembly) |
G to A
at 26779069 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamine to Stop codon
at position 313
(Q313*)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000156070
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000089832]
[ENSMUST00000231299]
[ENSMUST00000231417]
[ENSMUST00000231969]
|
| AlphaFold |
Q3URY2 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000089832
AA Change: Q319*
|
| SMART Domains |
Protein: ENSMUSP00000087269
Gene: ENSMUSG00000068428
AA Change: Q319*
| Domain | Start | End | E-Value | Type |
|---|
|
coiled coil region
|
89 |
124 |
N/A |
INTRINSIC |
|
low complexity region
|
148 |
161 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000231299
AA Change: Q271*
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000231417
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000231969
AA Change: Q313*
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
PHENOTYPE: Mice homozygous for a knock-out allele die within the first postnatal week exhibiting severe postnatal growth retardation and absence of respiratory motile cilia in tracheal epithelial cells. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 36 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 3425401B19Rik |
T |
C |
14: 32,381,988 (GRCm39) |
T1326A |
possibly damaging |
Het |
| Afg3l1 |
C |
T |
8: 124,221,592 (GRCm39) |
R484C |
probably benign |
Het |
| Atg2a |
C |
A |
19: 6,302,514 (GRCm39) |
Q946K |
probably benign |
Het |
| Cdh20 |
T |
C |
1: 104,921,895 (GRCm39) |
Y731H |
probably benign |
Het |
| Cdk15 |
A |
G |
1: 59,328,932 (GRCm39) |
D282G |
possibly damaging |
Het |
| Ctnnd2 |
T |
C |
15: 31,005,164 (GRCm39) |
S1073P |
probably damaging |
Het |
| Dnah2 |
T |
C |
11: 69,355,889 (GRCm39) |
|
probably benign |
Het |
| Evi2a |
T |
A |
11: 79,417,978 (GRCm39) |
R211W |
probably damaging |
Het |
| Fmo1 |
T |
A |
1: 162,661,168 (GRCm39) |
I372F |
probably benign |
Het |
| Glyctk |
T |
C |
9: 106,032,471 (GRCm39) |
D514G |
probably damaging |
Het |
| Grik1 |
T |
C |
16: 87,743,623 (GRCm39) |
T520A |
probably damaging |
Het |
| Gtsf2 |
A |
T |
15: 103,353,340 (GRCm39) |
C9S |
probably damaging |
Het |
| Ift80 |
T |
G |
3: 68,870,996 (GRCm39) |
N200T |
possibly damaging |
Het |
| Ints1 |
A |
G |
5: 139,742,047 (GRCm39) |
S1771P |
probably benign |
Het |
| Lrba |
A |
G |
3: 86,683,484 (GRCm39) |
T2769A |
possibly damaging |
Het |
| Lrfn2 |
G |
T |
17: 49,377,425 (GRCm39) |
V169L |
possibly damaging |
Het |
| Mei1 |
G |
A |
15: 81,973,753 (GRCm39) |
R80H |
probably damaging |
Het |
| Nbeal2 |
A |
T |
9: 110,473,746 (GRCm39) |
V31E |
probably damaging |
Het |
| Ncapd2 |
G |
T |
6: 125,154,835 (GRCm39) |
P546T |
probably benign |
Het |
| Or52l1 |
A |
G |
7: 104,829,929 (GRCm39) |
V212A |
probably damaging |
Het |
| Pan3 |
T |
C |
5: 147,390,052 (GRCm39) |
|
probably benign |
Het |
| Rab3b |
T |
A |
4: 108,781,223 (GRCm39) |
|
probably null |
Het |
| Rabl2 |
T |
C |
15: 89,467,615 (GRCm39) |
K119E |
probably benign |
Het |
| Reln |
A |
G |
5: 22,101,928 (GRCm39) |
V3334A |
probably damaging |
Het |
| Rfx1 |
A |
G |
8: 84,819,601 (GRCm39) |
|
probably null |
Het |
| Rhod |
T |
C |
19: 4,476,247 (GRCm39) |
Y168C |
probably damaging |
Het |
| Sag |
T |
C |
1: 87,733,071 (GRCm39) |
I13T |
probably damaging |
Het |
| Sat2 |
T |
C |
11: 69,513,789 (GRCm39) |
|
probably null |
Het |
| Scn5a |
A |
T |
9: 119,315,091 (GRCm39) |
D1872E |
possibly damaging |
Het |
| Sh2b2 |
T |
G |
5: 136,260,656 (GRCm39) |
I187L |
probably benign |
Het |
| Slit3 |
G |
A |
11: 35,591,211 (GRCm39) |
G1341D |
possibly damaging |
Het |
| Tmed11 |
A |
T |
5: 108,927,750 (GRCm39) |
S95T |
possibly damaging |
Het |
| Tmem186 |
A |
G |
16: 8,453,733 (GRCm39) |
V176A |
possibly damaging |
Het |
| Trim12c |
A |
T |
7: 103,997,422 (GRCm39) |
S45T |
possibly damaging |
Het |
| Ube4b |
C |
A |
4: 149,468,275 (GRCm39) |
R167L |
probably damaging |
Het |
| Zfp335 |
A |
T |
2: 164,752,540 (GRCm39) |
|
probably null |
Het |
|
| Other mutations in Gmnc |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00757:Gmnc
|
APN |
16 |
26,782,689 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL02600:Gmnc
|
APN |
16 |
26,781,641 (GRCm39) |
splice site |
probably benign |
|
|
R0465:Gmnc
|
UTSW |
16 |
26,781,702 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R0925:Gmnc
|
UTSW |
16 |
26,779,173 (GRCm39) |
missense |
probably benign |
0.08 |
|
R1388:Gmnc
|
UTSW |
16 |
26,782,662 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1405:Gmnc
|
UTSW |
16 |
26,779,196 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
R1405:Gmnc
|
UTSW |
16 |
26,779,196 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
R1566:Gmnc
|
UTSW |
16 |
26,782,689 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1574:Gmnc
|
UTSW |
16 |
26,782,729 (GRCm39) |
splice site |
probably benign |
|
|
R1759:Gmnc
|
UTSW |
16 |
26,784,497 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
R1880:Gmnc
|
UTSW |
16 |
26,784,361 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2151:Gmnc
|
UTSW |
16 |
26,779,456 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R3017:Gmnc
|
UTSW |
16 |
26,779,165 (GRCm39) |
missense |
probably benign |
0.00 |
|
R3437:Gmnc
|
UTSW |
16 |
26,779,217 (GRCm39) |
missense |
probably benign |
0.02 |
|
R5078:Gmnc
|
UTSW |
16 |
26,784,332 (GRCm39) |
missense |
probably benign |
0.13 |
|
R5225:Gmnc
|
UTSW |
16 |
26,782,695 (GRCm39) |
missense |
probably benign |
0.04 |
|
R5589:Gmnc
|
UTSW |
16 |
26,781,714 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6615:Gmnc
|
UTSW |
16 |
26,779,278 (GRCm39) |
missense |
probably benign |
0.14 |
|
R7078:Gmnc
|
UTSW |
16 |
26,779,272 (GRCm39) |
missense |
probably benign |
|
|
R7183:Gmnc
|
UTSW |
16 |
26,779,279 (GRCm39) |
missense |
probably benign |
0.08 |
|
R7284:Gmnc
|
UTSW |
16 |
26,779,542 (GRCm39) |
missense |
probably benign |
0.37 |
|
R8460:Gmnc
|
UTSW |
16 |
26,779,204 (GRCm39) |
missense |
probably benign |
0.08 |
|
R9149:Gmnc
|
UTSW |
16 |
26,781,642 (GRCm39) |
critical splice donor site |
probably null |
|
|
| Posted On |
2013-12-09 |
Incidental Mutation