Incidental Mutation 'R1388:Gmnc'
| ID |
162511 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Gmnc
|
| Ensembl Gene |
ENSMUSG00000068428 |
| Gene Name |
geminin coiled-coil domain containing |
| Synonyms |
Gm606, LOC239789, LOC385639 |
| MMRRC Submission |
039450-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R1388 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
16 |
| Chromosomal Location |
26775985-26810424 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 26782662 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Proline
at position 80
(L80P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000156070
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000089832]
[ENSMUST00000231299]
[ENSMUST00000231417]
[ENSMUST00000231969]
|
| AlphaFold |
Q3URY2 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000089832
AA Change: L86P
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000087269
Gene: ENSMUSG00000068428
AA Change: L86P
| 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 damaging
Transcript: ENSMUST00000231299
AA Change: L38P
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000231417
AA Change: L31P
PolyPhen 2
Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000231969
AA Change: L80P
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| Meta Mutation Damage Score |
0.4981 |
| Coding Region Coverage |
- 1x: 98.9%
- 3x: 97.9%
- 10x: 94.9%
- 20x: 88.1%
|
| Validation Efficiency |
98% (47/48) |
| 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: 41 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acot3 |
T |
G |
12: 84,105,761 (GRCm39) |
H409Q |
possibly damaging |
Het |
| Adgra1 |
T |
C |
7: 139,453,919 (GRCm39) |
V152A |
probably damaging |
Het |
| Arhgef6 |
T |
C |
X: 56,383,922 (GRCm39) |
M5V |
probably benign |
Het |
| Atxn7l3 |
C |
G |
11: 102,183,261 (GRCm39) |
|
probably benign |
Het |
| Ccdc174 |
C |
A |
6: 91,858,225 (GRCm39) |
|
probably null |
Het |
| Ccdc38 |
A |
T |
10: 93,417,702 (GRCm39) |
|
probably benign |
Het |
| Clca4b |
A |
T |
3: 144,622,415 (GRCm39) |
V550D |
probably benign |
Het |
| Dab2ip |
C |
T |
2: 35,611,268 (GRCm39) |
|
probably benign |
Het |
| Gm17661 |
GA |
GAA |
2: 90,917,709 (GRCm38) |
|
noncoding transcript |
Het |
| Gm2959 |
A |
T |
14: 42,235,660 (GRCm39) |
|
noncoding transcript |
Het |
| Gtf2ird1 |
T |
C |
5: 134,424,564 (GRCm39) |
D394G |
probably damaging |
Het |
| Heatr1 |
T |
C |
13: 12,432,328 (GRCm39) |
|
probably benign |
Het |
| Il1a |
T |
C |
2: 129,148,501 (GRCm39) |
S70G |
possibly damaging |
Het |
| Kctd19 |
T |
C |
8: 106,118,683 (GRCm39) |
S293G |
probably null |
Het |
| Klra4 |
T |
C |
6: 130,039,198 (GRCm39) |
|
probably benign |
Het |
| Kplce |
G |
T |
3: 92,776,356 (GRCm39) |
T109K |
probably damaging |
Het |
| Mr1 |
T |
C |
1: 155,008,249 (GRCm39) |
E242G |
probably damaging |
Het |
| Mrnip |
C |
A |
11: 50,087,772 (GRCm39) |
A98E |
probably benign |
Het |
| Mybpc3 |
C |
T |
2: 90,953,219 (GRCm39) |
P155S |
probably benign |
Het |
| Myh14 |
A |
T |
7: 44,314,546 (GRCm39) |
Y126N |
probably damaging |
Het |
| Nrbp1 |
T |
A |
5: 31,403,157 (GRCm39) |
I210N |
probably damaging |
Het |
| Nup58 |
A |
T |
14: 60,482,119 (GRCm39) |
|
probably benign |
Het |
| Or10g9 |
A |
G |
9: 39,911,948 (GRCm39) |
S192P |
probably damaging |
Het |
| Or10j3 |
T |
C |
1: 173,031,445 (GRCm39) |
V174A |
probably benign |
Het |
| Pnisr |
T |
C |
4: 21,862,041 (GRCm39) |
M243T |
possibly damaging |
Het |
| Ptprr |
A |
G |
10: 116,109,657 (GRCm39) |
S633G |
probably benign |
Het |
| Rasip1 |
T |
A |
7: 45,279,656 (GRCm39) |
S300T |
probably damaging |
Het |
| Sbsn |
A |
T |
7: 30,451,576 (GRCm39) |
H197L |
probably benign |
Het |
| Shf |
G |
A |
2: 122,199,163 (GRCm39) |
P51S |
probably damaging |
Het |
| Sim1 |
T |
A |
10: 50,772,090 (GRCm39) |
I33N |
probably damaging |
Het |
| Speg |
A |
G |
1: 75,407,104 (GRCm39) |
D2878G |
probably damaging |
Het |
| Taf2 |
T |
A |
15: 54,900,021 (GRCm39) |
N864I |
probably benign |
Het |
| Tmem43 |
G |
T |
6: 91,455,785 (GRCm39) |
|
probably null |
Het |
| Ttn |
T |
C |
2: 76,542,135 (GRCm39) |
E25290G |
probably damaging |
Het |
| Ush2a |
A |
G |
1: 188,255,515 (GRCm39) |
|
probably benign |
Het |
| Usp53 |
T |
C |
3: 122,751,277 (GRCm39) |
E260G |
probably damaging |
Het |
| Vmn2r12 |
T |
G |
5: 109,240,840 (GRCm39) |
Y91S |
possibly damaging |
Het |
| Vmn2r59 |
A |
T |
7: 41,695,133 (GRCm39) |
N426K |
probably benign |
Het |
| Whamm |
C |
A |
7: 81,236,038 (GRCm39) |
L414I |
probably damaging |
Het |
| Zfhx4 |
A |
G |
3: 5,466,447 (GRCm39) |
T2227A |
probably damaging |
Het |
| Zfp866 |
C |
T |
8: 70,218,834 (GRCm39) |
R262Q |
probably benign |
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 |
|
IGL01612:Gmnc
|
APN |
16 |
26,779,069 (GRCm39) |
nonsense |
probably null |
|
|
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 |
|
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 |
|
|
| Predicted Primers |
PCR Primer
(F):5'- TCACACGTTTTCTTGGAGCCACTG -3'
(R):5'- AGGGCATCCCTTTAGCCACCTTTG -3'
Sequencing Primer
(F):5'- CGGTATTTCTTTGGACACACAAC -3'
(R):5'- AGCCACCTTTGTAGGCAC -3'
|
| Posted On |
2014-03-17 |
Incidental Mutation