Incidental Mutation 'R3781:Gnl2'
| ID |
272042 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Gnl2
|
| Ensembl Gene |
ENSMUSG00000028869 |
| Gene Name |
guanine nucleotide binding protein nucleolar 2 |
| Synonyms |
Ngp-1 |
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.966)
|
| Stock # |
R3781 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
4 |
| Chromosomal Location |
124920866-124949175 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 124931399 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 110
(V110A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000030684
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000030684]
[ENSMUST00000106176]
|
| AlphaFold |
Q99LH1 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000030684
AA Change: V110A
PolyPhen 2
Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000030684
Gene: ENSMUSG00000028869
AA Change: V110A
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:NGP1NT
|
43 |
174 |
1.2e-51 |
PFAM |
|
SCOP:d1egaa1
|
178 |
261 |
8e-3 |
SMART |
|
Pfam:FeoB_N
|
311 |
398 |
3.1e-6 |
PFAM |
|
Pfam:MMR_HSR1
|
312 |
432 |
3.4e-13 |
PFAM |
|
low complexity region
|
480 |
500 |
N/A |
INTRINSIC |
|
low complexity region
|
551 |
579 |
N/A |
INTRINSIC |
|
low complexity region
|
679 |
687 |
N/A |
INTRINSIC |
|
low complexity region
|
700 |
710 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000106176
|
| SMART Domains |
Protein: ENSMUSP00000101782
Gene: ENSMUSG00000028869
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:NGP1NT
|
43 |
100 |
4.1e-23 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000125078
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000136910
|
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.7%
- 10x: 97.4%
- 20x: 95.4%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 23 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Bap1 |
T |
C |
14: 30,979,575 (GRCm39) |
I526T |
possibly damaging |
Het |
| Calcr |
T |
C |
6: 3,700,193 (GRCm39) |
T263A |
possibly damaging |
Het |
| Cdh20 |
T |
A |
1: 109,976,734 (GRCm39) |
V133E |
probably benign |
Het |
| Ddx5 |
T |
C |
11: 106,675,346 (GRCm39) |
I330V |
probably benign |
Het |
| Dysf |
G |
A |
6: 84,163,491 (GRCm39) |
|
probably null |
Het |
| H2-Q10 |
A |
G |
17: 35,781,915 (GRCm39) |
Y179C |
possibly damaging |
Het |
| Hlx |
G |
T |
1: 184,464,184 (GRCm39) |
A52D |
probably damaging |
Het |
| Map3k20 |
A |
G |
2: 72,232,699 (GRCm39) |
|
probably benign |
Het |
| Mcm7 |
G |
A |
5: 138,162,998 (GRCm39) |
R385W |
probably damaging |
Het |
| Mgat4c |
A |
G |
10: 102,224,782 (GRCm39) |
E332G |
probably benign |
Het |
| Nudt3 |
A |
G |
17: 27,799,782 (GRCm39) |
S134P |
possibly damaging |
Het |
| Or1e26 |
C |
A |
11: 73,479,839 (GRCm39) |
G242C |
probably damaging |
Het |
| Or1e26 |
A |
T |
11: 73,480,194 (GRCm39) |
Y123* |
probably null |
Het |
| Or4c100 |
A |
T |
2: 88,356,709 (GRCm39) |
T261S |
probably benign |
Het |
| Or4c107 |
G |
T |
2: 88,789,091 (GRCm39) |
E94* |
probably null |
Het |
| Or51h7 |
T |
C |
7: 102,591,278 (GRCm39) |
I169V |
probably benign |
Het |
| Pcnx1 |
A |
G |
12: 82,042,892 (GRCm39) |
T2325A |
probably benign |
Het |
| Plekha6 |
A |
G |
1: 133,222,393 (GRCm39) |
E993G |
probably damaging |
Het |
| Psmd4 |
T |
A |
3: 94,944,039 (GRCm39) |
Y15F |
probably benign |
Het |
| Rad23b |
C |
T |
4: 55,382,586 (GRCm39) |
T263M |
probably damaging |
Het |
| Stpg3 |
T |
A |
2: 25,103,875 (GRCm39) |
M154L |
probably benign |
Het |
| Vmn1r45 |
C |
A |
6: 89,910,799 (GRCm39) |
R57L |
probably benign |
Het |
| Zfp658 |
G |
A |
7: 43,223,270 (GRCm39) |
R515H |
probably benign |
Het |
|
| Other mutations in Gnl2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01977:Gnl2
|
APN |
4 |
124,941,405 (GRCm39) |
splice site |
probably null |
|
|
IGL02536:Gnl2
|
APN |
4 |
124,946,401 (GRCm39) |
nonsense |
probably null |
|
|
IGL03358:Gnl2
|
APN |
4 |
124,946,387 (GRCm39) |
missense |
probably damaging |
1.00 |
|
PIT4283001:Gnl2
|
UTSW |
4 |
124,940,099 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0377:Gnl2
|
UTSW |
4 |
124,940,175 (GRCm39) |
splice site |
probably benign |
|
|
R0419:Gnl2
|
UTSW |
4 |
124,947,320 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0975:Gnl2
|
UTSW |
4 |
124,942,171 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1529:Gnl2
|
UTSW |
4 |
124,940,099 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1550:Gnl2
|
UTSW |
4 |
124,938,027 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1942:Gnl2
|
UTSW |
4 |
124,923,957 (GRCm39) |
missense |
probably benign |
0.01 |
|
R2095:Gnl2
|
UTSW |
4 |
124,928,111 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2125:Gnl2
|
UTSW |
4 |
124,947,278 (GRCm39) |
missense |
probably benign |
0.01 |
|
R3712:Gnl2
|
UTSW |
4 |
124,940,067 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R4656:Gnl2
|
UTSW |
4 |
124,934,790 (GRCm39) |
nonsense |
probably null |
|
|
R4676:Gnl2
|
UTSW |
4 |
124,947,266 (GRCm39) |
missense |
possibly damaging |
0.83 |
|
R4710:Gnl2
|
UTSW |
4 |
124,947,252 (GRCm39) |
missense |
probably benign |
0.01 |
|
R4734:Gnl2
|
UTSW |
4 |
124,934,811 (GRCm39) |
missense |
probably benign |
|
|
R4916:Gnl2
|
UTSW |
4 |
124,937,485 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5106:Gnl2
|
UTSW |
4 |
124,947,329 (GRCm39) |
critical splice donor site |
probably null |
|
|
R5310:Gnl2
|
UTSW |
4 |
124,946,633 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5506:Gnl2
|
UTSW |
4 |
124,949,158 (GRCm39) |
utr 3 prime |
probably benign |
|
|
R5967:Gnl2
|
UTSW |
4 |
124,934,823 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6184:Gnl2
|
UTSW |
4 |
124,948,022 (GRCm39) |
critical splice donor site |
probably null |
|
|
R6395:Gnl2
|
UTSW |
4 |
124,940,058 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6432:Gnl2
|
UTSW |
4 |
124,946,353 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
R6672:Gnl2
|
UTSW |
4 |
124,942,186 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7657:Gnl2
|
UTSW |
4 |
124,923,951 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8387:Gnl2
|
UTSW |
4 |
124,949,127 (GRCm39) |
makesense |
probably null |
|
|
R8408:Gnl2
|
UTSW |
4 |
124,938,082 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R9083:Gnl2
|
UTSW |
4 |
124,941,357 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9276:Gnl2
|
UTSW |
4 |
124,947,250 (GRCm39) |
missense |
possibly damaging |
0.83 |
|
RF003:Gnl2
|
UTSW |
4 |
124,937,518 (GRCm39) |
critical splice donor site |
probably null |
|
|
| Predicted Primers |
PCR Primer
(F):5'- GAATGGAGATTTGCCTTCTTCCC -3'
(R):5'- TGGATCCACACAGTACTGCG -3'
Sequencing Primer
(F):5'- TTCCCCTGTCAGAAAGCGC -3'
(R):5'- ACTCAATTCACAGTAAGGGTGAC -3'
|
| Posted On |
2015-03-25 |
Incidental Mutation