Incidental Mutation 'R3017:Gmnc'
| ID |
257676 |
| Institutional Source |
Beutler Lab
|
| 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 # |
R3017 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
16 |
| Chromosomal Location |
26775985-26810424 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 26779165 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Histidine to Tyrosine
at position 281
(H281Y)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000156070
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000089832]
[ENSMUST00000231299]
[ENSMUST00000231417]
[ENSMUST00000231969]
|
| AlphaFold |
Q3URY2 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000089832
AA Change: H287Y
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
| SMART Domains |
Protein: ENSMUSP00000087269
Gene: ENSMUSG00000068428
AA Change: H287Y
| 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 benign
Transcript: ENSMUST00000231299
AA Change: H239Y
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000231417
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000231969
AA Change: H281Y
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.4%
- 10x: 96.8%
- 20x: 93.4%
|
| 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: 16 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aox4 |
T |
C |
1: 58,274,363 (GRCm39) |
V383A |
probably benign |
Het |
| Aplp1 |
A |
T |
7: 30,135,396 (GRCm39) |
|
probably null |
Het |
| Bahd1 |
C |
T |
2: 118,746,887 (GRCm39) |
P169S |
probably damaging |
Het |
| Gusb |
T |
C |
5: 130,029,325 (GRCm39) |
D152G |
probably damaging |
Het |
| Kcnk4 |
A |
T |
19: 6,905,162 (GRCm39) |
V163E |
probably damaging |
Het |
| Lcmt1 |
T |
G |
7: 123,029,359 (GRCm39) |
L327W |
probably damaging |
Het |
| Med18 |
G |
A |
4: 132,187,128 (GRCm39) |
R124C |
probably damaging |
Het |
| Odf1 |
A |
G |
15: 38,226,675 (GRCm39) |
T192A |
unknown |
Het |
| Pitpna |
C |
T |
11: 75,483,016 (GRCm39) |
R8W |
probably damaging |
Het |
| Pkn1 |
A |
G |
8: 84,396,799 (GRCm39) |
Y951H |
probably benign |
Het |
| Rad18 |
T |
C |
6: 112,658,327 (GRCm39) |
T193A |
possibly damaging |
Het |
| Ruvbl2 |
G |
T |
7: 45,071,588 (GRCm39) |
L432I |
probably damaging |
Het |
| Slco1a4 |
T |
C |
6: 141,758,396 (GRCm39) |
|
probably null |
Het |
| Tlr11 |
T |
A |
14: 50,600,178 (GRCm39) |
C721* |
probably null |
Het |
| Tubgcp6 |
A |
T |
15: 88,987,285 (GRCm39) |
C1229* |
probably null |
Het |
| Vmn2r114 |
ATTT |
ATT |
17: 23,509,906 (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 |
|
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 |
|
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 |
|
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'- AGGAGTCACTAGGTCTGCTTAGG -3'
(R):5'- CTCTACCAGCTAACTACAGTGC -3'
Sequencing Primer
(F):5'- TGCTTAGGGACCCAGGTAAACTTC -3'
(R):5'- AGAGCAGTTCCCAGTATTTCC -3'
|
| Posted On |
2015-01-11 |
Incidental Mutation