Incidental Mutation 'R1405:Gmnc'
ID |
160541 |
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 # |
R1405 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
16 |
Chromosomal Location |
26775985-26810424 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to T
at 26779196 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Asparagine to Lysine
at position 270
(N270K)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000156070
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000089832]
[ENSMUST00000231299]
[ENSMUST00000231417]
[ENSMUST00000231969]
|
AlphaFold |
Q3URY2 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000089832
AA Change: N276K
PolyPhen 2
Score 0.856 (Sensitivity: 0.83; Specificity: 0.93)
|
SMART Domains |
Protein: ENSMUSP00000087269 Gene: ENSMUSG00000068428 AA Change: N276K
Domain | Start | End | E-Value | Type |
coiled coil region
|
89 |
124 |
N/A |
INTRINSIC |
low complexity region
|
148 |
161 |
N/A |
INTRINSIC |
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000231299
AA Change: N228K
PolyPhen 2
Score 0.856 (Sensitivity: 0.83; Specificity: 0.93)
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000231417
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000231969
AA Change: N270K
PolyPhen 2
Score 0.856 (Sensitivity: 0.83; Specificity: 0.93)
|
Coding Region Coverage |
- 1x: 99.0%
- 3x: 96.7%
- 10x: 83.5%
- 20x: 53.1%
|
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: 38 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Arap1 |
G |
A |
7: 101,047,643 (GRCm39) |
|
probably null |
Het |
Asb8 |
G |
A |
15: 98,039,248 (GRCm39) |
H51Y |
possibly damaging |
Het |
Capn10 |
T |
G |
1: 92,872,744 (GRCm39) |
V490G |
probably benign |
Het |
Ccdc146 |
G |
A |
5: 21,604,730 (GRCm39) |
S36L |
probably benign |
Het |
Celsr1 |
C |
T |
15: 85,789,635 (GRCm39) |
|
probably null |
Het |
Clvs2 |
C |
A |
10: 33,389,256 (GRCm39) |
*328L |
probably null |
Het |
Cul9 |
C |
G |
17: 46,833,101 (GRCm39) |
A1326P |
probably damaging |
Het |
Dstn |
A |
G |
2: 143,780,356 (GRCm39) |
K19E |
probably damaging |
Het |
Ehmt2 |
T |
A |
17: 35,125,553 (GRCm39) |
H134Q |
probably benign |
Het |
Faah |
G |
A |
4: 115,858,345 (GRCm39) |
P411S |
probably damaging |
Het |
Fn1 |
A |
G |
1: 71,681,237 (GRCm39) |
F364L |
probably damaging |
Het |
Grip2 |
A |
T |
6: 91,765,133 (GRCm39) |
|
probably null |
Het |
Hmg20a |
A |
T |
9: 56,384,587 (GRCm39) |
Q119L |
possibly damaging |
Het |
Ipo7 |
T |
C |
7: 109,629,048 (GRCm39) |
I106T |
probably benign |
Het |
Ipo7 |
C |
T |
7: 109,638,456 (GRCm39) |
P241L |
probably damaging |
Het |
Katnb1 |
T |
C |
8: 95,824,801 (GRCm39) |
Y574H |
probably damaging |
Het |
Larp6 |
A |
C |
9: 60,644,849 (GRCm39) |
M330L |
probably benign |
Het |
Lrrc8e |
T |
C |
8: 4,281,754 (GRCm39) |
Y30H |
probably damaging |
Het |
Nop56 |
T |
C |
2: 130,119,868 (GRCm39) |
V420A |
probably benign |
Het |
Nrg1 |
T |
C |
8: 32,407,855 (GRCm39) |
D126G |
probably benign |
Het |
Prdm1 |
T |
A |
10: 44,315,961 (GRCm39) |
N725I |
probably damaging |
Het |
Prl3a1 |
A |
G |
13: 27,459,051 (GRCm39) |
|
probably null |
Het |
Psmd2 |
T |
C |
16: 20,471,034 (GRCm39) |
L59P |
possibly damaging |
Het |
Ptgdr2 |
T |
C |
19: 10,918,395 (GRCm39) |
V304A |
probably benign |
Het |
Rasa3 |
A |
G |
8: 13,638,027 (GRCm39) |
V339A |
possibly damaging |
Het |
Sec24c |
G |
A |
14: 20,742,593 (GRCm39) |
|
probably null |
Het |
Serpinb9e |
A |
G |
13: 33,444,009 (GRCm39) |
D343G |
probably benign |
Het |
Sfi1 |
TCGC |
TC |
11: 3,096,254 (GRCm39) |
|
probably null |
Het |
Sfi1 |
CCTCTC |
CCTCTCTC |
11: 3,127,419 (GRCm39) |
|
probably benign |
Het |
Stab1 |
A |
C |
14: 30,870,958 (GRCm39) |
V1297G |
probably benign |
Het |
Stk4 |
C |
T |
2: 163,942,448 (GRCm39) |
T360M |
probably benign |
Het |
Tmprss2 |
G |
A |
16: 97,398,005 (GRCm39) |
T57I |
probably benign |
Het |
Tnrc6a |
A |
G |
7: 122,770,301 (GRCm39) |
D697G |
probably damaging |
Het |
Vwa5b2 |
T |
A |
16: 20,423,066 (GRCm39) |
D1021E |
probably benign |
Het |
Wdr46 |
C |
A |
17: 34,168,057 (GRCm39) |
P543Q |
probably damaging |
Het |
Zfp1005 |
T |
A |
2: 150,109,620 (GRCm39) |
Y103* |
probably null |
Het |
Zfp287 |
T |
A |
11: 62,619,137 (GRCm39) |
D119V |
probably damaging |
Het |
Zxdc |
A |
G |
6: 90,361,225 (GRCm39) |
S737G |
possibly damaging |
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 |
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'- CCCTGCAAGTTGATGTGTGTAGCC -3'
(R):5'- TCCCAGAGCAGTTCCCAGTATTTCC -3'
Sequencing Primer
(F):5'- TCTTTACAGACAGAAGTCCTGGC -3'
(R):5'- ATTTCCTCTCTGTTTGTACATGATG -3'
|
Posted On |
2014-03-14 |