Incidental Mutation 'R0925:Gmnc'
| ID |
83170 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Gmnc
|
| Ensembl Gene |
ENSMUSG00000068428 |
| Gene Name |
geminin coiled-coil domain containing |
| Synonyms |
Gm606, LOC239789, LOC385639 |
| MMRRC Submission |
039072-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R0925 (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 G
at 26779173 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Proline
at position 278
(L278P)
|
| 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: L284P
PolyPhen 2
Score 0.079 (Sensitivity: 0.93; Specificity: 0.85)
|
| SMART Domains |
Protein: ENSMUSP00000087269
Gene: ENSMUSG00000068428
AA Change: L284P
| 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: L236P
PolyPhen 2
Score 0.036 (Sensitivity: 0.94; Specificity: 0.82)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000231417
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000231969
AA Change: L278P
PolyPhen 2
Score 0.079 (Sensitivity: 0.93; Specificity: 0.85)
|
| Coding Region Coverage |
- 1x: 99.4%
- 3x: 98.9%
- 10x: 97.5%
- 20x: 95.7%
|
| 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: 37 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adam34l |
T |
C |
8: 44,079,340 (GRCm39) |
I295V |
probably benign |
Het |
| Adam5 |
T |
C |
8: 25,302,441 (GRCm39) |
Q101R |
probably benign |
Het |
| C2cd4c |
T |
C |
10: 79,448,584 (GRCm39) |
N188D |
probably benign |
Het |
| Cdc27 |
A |
G |
11: 104,416,875 (GRCm39) |
|
probably null |
Het |
| Cdh11 |
T |
A |
8: 103,361,356 (GRCm39) |
I661L |
probably damaging |
Het |
| Cimip1 |
T |
A |
2: 173,367,867 (GRCm39) |
S47T |
probably benign |
Het |
| Csmd1 |
A |
G |
8: 16,760,634 (GRCm39) |
I167T |
probably benign |
Het |
| Dennd3 |
T |
G |
15: 73,405,284 (GRCm39) |
F346V |
probably damaging |
Het |
| Dis3l |
A |
T |
9: 64,248,412 (GRCm39) |
M1K |
probably null |
Het |
| Dnajb6 |
A |
T |
5: 29,957,398 (GRCm39) |
K60I |
probably damaging |
Het |
| Dock10 |
T |
A |
1: 80,514,657 (GRCm39) |
H1421L |
probably benign |
Het |
| Elmod3 |
A |
T |
6: 72,545,921 (GRCm39) |
C274S |
probably damaging |
Het |
| Eme1 |
T |
C |
11: 94,541,558 (GRCm39) |
E88G |
probably damaging |
Het |
| Fam227a |
A |
T |
15: 79,505,006 (GRCm39) |
M475K |
probably benign |
Het |
| Frem2 |
T |
C |
3: 53,561,394 (GRCm39) |
I1038V |
probably benign |
Het |
| Gabpb1 |
T |
A |
2: 126,494,185 (GRCm39) |
N147Y |
probably damaging |
Het |
| Gpr153 |
A |
G |
4: 152,366,331 (GRCm39) |
T299A |
probably benign |
Het |
| H2-M11 |
T |
C |
17: 36,858,353 (GRCm39) |
V49A |
probably benign |
Het |
| Hemgn |
T |
A |
4: 46,397,049 (GRCm39) |
K62N |
probably damaging |
Het |
| Hormad2 |
G |
A |
11: 4,377,297 (GRCm39) |
T47M |
probably damaging |
Het |
| Iqcf6 |
A |
G |
9: 106,504,500 (GRCm39) |
T55A |
probably benign |
Het |
| Itgam |
T |
C |
7: 127,711,410 (GRCm39) |
F705L |
probably benign |
Het |
| Klk1 |
T |
A |
7: 43,878,240 (GRCm39) |
|
probably null |
Het |
| Myo1f |
A |
T |
17: 33,797,107 (GRCm39) |
I123F |
probably damaging |
Het |
| Nup58 |
T |
C |
14: 60,457,590 (GRCm39) |
T538A |
probably damaging |
Het |
| Or52j3 |
T |
A |
7: 102,836,030 (GRCm39) |
L74* |
probably null |
Het |
| Or5p81 |
C |
T |
7: 108,267,400 (GRCm39) |
T259I |
probably benign |
Het |
| Pdzd2 |
C |
T |
15: 12,399,356 (GRCm39) |
R790H |
probably damaging |
Het |
| Pigv |
T |
C |
4: 133,389,960 (GRCm39) |
K74R |
probably benign |
Het |
| Prmt8 |
T |
C |
6: 127,674,776 (GRCm39) |
K284R |
probably benign |
Het |
| Rsl1d1 |
A |
T |
16: 11,017,553 (GRCm39) |
Y138N |
probably damaging |
Het |
| Scara5 |
AC |
ACC |
14: 66,000,167 (GRCm39) |
|
probably benign |
Het |
| Smc4 |
T |
A |
3: 68,913,548 (GRCm39) |
|
probably benign |
Het |
| Spta1 |
G |
A |
1: 174,001,992 (GRCm39) |
V41I |
possibly damaging |
Het |
| Tdrd7 |
C |
A |
4: 46,025,758 (GRCm39) |
N859K |
probably damaging |
Het |
| Vps13d |
T |
G |
4: 144,883,121 (GRCm39) |
D824A |
probably damaging |
Het |
| Wdfy2 |
A |
T |
14: 63,167,675 (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 |
|
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 |
|
|
| Predicted Primers |
PCR Primer
(F):5'- CCCTGCAAGTTGATGTGTGTAGCC -3'
(R):5'- TCCCAGAGCAGTTCCCAGTATTTCC -3'
Sequencing Primer
(F):5'- TCTTTACAGACAGAAGTCCTGGC -3'
(R):5'- ATTTCCTCTCTGTTTGTACATGATG -3'
|
| Posted On |
2013-11-08 |
Incidental Mutation