Incidental Mutation 'R5967:Gnl2'
| ID |
470653 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Gnl2
|
| Ensembl Gene |
ENSMUSG00000028869 |
| Gene Name |
guanine nucleotide binding protein nucleolar 2 |
| Synonyms |
Ngp-1 |
| MMRRC Submission |
043248-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.965)
|
| Stock # |
R5967 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
4 |
| Chromosomal Location |
124920866-124949175 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 124934823 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Methionine to Valine
at position 160
(M160V)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000030684
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000030684]
[ENSMUST00000106176]
|
| AlphaFold |
Q99LH1 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000030684
AA Change: M160V
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000030684
Gene: ENSMUSG00000028869
AA Change: M160V
| 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
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000147390
|
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 98.4%
- 20x: 95.4%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 34 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Agl |
T |
A |
3: 116,587,357 (GRCm39) |
D66V |
probably benign |
Het |
| Agrn |
G |
A |
4: 156,259,560 (GRCm39) |
P792S |
probably damaging |
Het |
| Angptl2 |
A |
G |
2: 33,118,718 (GRCm39) |
N164S |
probably damaging |
Het |
| Birc6 |
T |
C |
17: 74,967,434 (GRCm39) |
F4112L |
probably damaging |
Het |
| C8b |
A |
G |
4: 104,650,530 (GRCm39) |
E446G |
possibly damaging |
Het |
| Ceacam1 |
C |
T |
7: 25,174,167 (GRCm39) |
V163I |
probably damaging |
Het |
| Cngb1 |
T |
C |
8: 95,978,534 (GRCm39) |
K1068R |
probably damaging |
Het |
| Gna11 |
A |
G |
10: 81,366,643 (GRCm39) |
Y356H |
probably benign |
Het |
| Gpsm1 |
A |
G |
2: 26,230,546 (GRCm39) |
|
probably null |
Het |
| Grep1 |
C |
A |
17: 23,931,332 (GRCm39) |
G192W |
probably damaging |
Het |
| Gtf2h3 |
C |
T |
5: 124,722,360 (GRCm39) |
T121I |
probably benign |
Het |
| Kif20a |
G |
T |
18: 34,763,580 (GRCm39) |
R609L |
probably benign |
Het |
| Meis2 |
G |
A |
2: 115,694,790 (GRCm39) |
T444I |
probably benign |
Het |
| Muc17 |
T |
A |
5: 137,175,485 (GRCm39) |
I62L |
probably benign |
Het |
| Myorg |
G |
A |
4: 41,497,830 (GRCm39) |
A600V |
probably benign |
Het |
| Ncor2 |
C |
T |
5: 125,146,048 (GRCm39) |
D526N |
unknown |
Het |
| Nodal |
G |
T |
10: 61,259,446 (GRCm39) |
E294D |
probably damaging |
Het |
| Nup214 |
T |
C |
2: 31,869,790 (GRCm39) |
V161A |
possibly damaging |
Het |
| Or10a48 |
C |
T |
7: 108,424,921 (GRCm39) |
G95D |
probably benign |
Het |
| Or5k1b |
G |
T |
16: 58,580,725 (GRCm39) |
D271E |
probably damaging |
Het |
| Or5m11b |
G |
A |
2: 85,806,535 (GRCm39) |
R316H |
probably benign |
Het |
| Pclo |
A |
T |
5: 14,590,669 (GRCm39) |
T990S |
unknown |
Het |
| Piwil2 |
A |
T |
14: 70,628,013 (GRCm39) |
M752K |
probably benign |
Het |
| Ppargc1b |
A |
G |
18: 61,431,837 (GRCm39) |
S1004P |
probably damaging |
Het |
| Prkd1 |
A |
T |
12: 50,411,333 (GRCm39) |
M805K |
probably damaging |
Het |
| Rad23a |
T |
C |
8: 85,565,568 (GRCm39) |
E30G |
probably damaging |
Het |
| Ralbp1 |
A |
G |
17: 66,171,274 (GRCm39) |
V233A |
probably benign |
Het |
| Scin |
C |
T |
12: 40,127,537 (GRCm39) |
E418K |
probably benign |
Het |
| Scn7a |
T |
A |
2: 66,506,057 (GRCm39) |
I1611F |
probably damaging |
Het |
| Slit2 |
A |
T |
5: 48,142,506 (GRCm39) |
H42L |
probably damaging |
Het |
| Stard9 |
T |
A |
2: 120,537,375 (GRCm39) |
V4259D |
probably damaging |
Het |
| Trhde |
T |
A |
10: 114,403,039 (GRCm39) |
Y528F |
probably damaging |
Het |
| Txlnb |
A |
G |
10: 17,675,168 (GRCm39) |
E107G |
probably damaging |
Het |
| Zfp715 |
T |
C |
7: 42,948,572 (GRCm39) |
T463A |
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 |
|
R3781:Gnl2
|
UTSW |
4 |
124,931,399 (GRCm39) |
missense |
probably damaging |
0.99 |
|
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 |
|
|
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'- GCCCTTGTGCAATATAAACACG -3'
(R):5'- GTCTGGCCTCTAGTGCATTG -3'
Sequencing Primer
(F):5'- GAAACTTCACTGAGTCTGTGC -3'
(R):5'- AGAAACTAGCTGTGTGTGCAATCC -3'
|
| Posted On |
2017-03-31 |
Incidental Mutation