Incidental Mutation 'R6672:Gnl2'
| ID |
527163 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Gnl2
|
| Ensembl Gene |
ENSMUSG00000028869 |
| Gene Name |
guanine nucleotide binding protein nucleolar 2 |
| Synonyms |
Ngp-1 |
| MMRRC Submission |
044792-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.965)
|
| Stock # |
R6672 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
4 |
| Chromosomal Location |
124920866-124949175 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 124942186 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 397
(V397A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000030684
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000030684]
|
| AlphaFold |
Q99LH1 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000030684
AA Change: V397A
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000030684
Gene: ENSMUSG00000028869
AA Change: V397A
| 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 |
noncoding transcript
Transcript: ENSMUST00000147390
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000147550
|
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.7%
- 10x: 98.4%
- 20x: 95.6%
|
| Validation Efficiency |
100% (31/31) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 30 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Actmap |
C |
T |
7: 26,903,489 (GRCm39) |
|
probably benign |
Het |
| Adam24 |
A |
G |
8: 41,134,572 (GRCm39) |
E680G |
probably benign |
Het |
| Adam7 |
T |
A |
14: 68,742,151 (GRCm39) |
|
probably null |
Het |
| Arid2 |
C |
T |
15: 96,260,226 (GRCm39) |
T351I |
probably benign |
Het |
| Asz1 |
T |
A |
6: 18,075,817 (GRCm39) |
E252V |
possibly damaging |
Het |
| Chrm5 |
C |
T |
2: 112,310,141 (GRCm39) |
C325Y |
probably benign |
Het |
| Cimap1a |
A |
G |
7: 140,428,340 (GRCm39) |
S25G |
probably benign |
Het |
| Cyp2c65 |
A |
G |
19: 39,076,118 (GRCm39) |
R357G |
probably damaging |
Het |
| Dhx36 |
A |
G |
3: 62,402,957 (GRCm39) |
V265A |
probably damaging |
Het |
| Dhx36 |
T |
A |
3: 62,408,300 (GRCm39) |
E179D |
probably benign |
Het |
| Dip2c |
G |
A |
13: 9,617,866 (GRCm39) |
|
probably null |
Het |
| Dock10 |
A |
T |
1: 80,490,248 (GRCm39) |
M1958K |
probably benign |
Het |
| Dpf1 |
T |
C |
7: 29,015,693 (GRCm39) |
C357R |
probably damaging |
Het |
| Dync1h1 |
C |
T |
12: 110,624,568 (GRCm39) |
R3703C |
probably damaging |
Het |
| Eef1g |
A |
G |
19: 8,944,411 (GRCm39) |
|
probably null |
Het |
| Gramd2b |
A |
G |
18: 56,565,408 (GRCm39) |
E21G |
possibly damaging |
Het |
| Grik3 |
C |
A |
4: 125,517,309 (GRCm39) |
Q51K |
probably benign |
Het |
| Hectd2 |
G |
T |
19: 36,564,780 (GRCm39) |
Q20H |
probably damaging |
Het |
| Krtap5-1 |
A |
G |
7: 141,850,233 (GRCm39) |
C192R |
unknown |
Het |
| Lrpap1 |
A |
T |
5: 35,256,577 (GRCm39) |
M135K |
probably benign |
Het |
| Lrrc9 |
G |
A |
12: 72,520,710 (GRCm39) |
R664H |
possibly damaging |
Het |
| Mef2c |
T |
G |
13: 83,800,975 (GRCm39) |
V225G |
probably damaging |
Het |
| Nlrp9b |
T |
C |
7: 19,753,263 (GRCm39) |
L56P |
probably damaging |
Het |
| Nup133 |
T |
C |
8: 124,643,020 (GRCm39) |
|
probably null |
Het |
| Or12j4 |
G |
A |
7: 140,046,648 (GRCm39) |
C178Y |
probably damaging |
Het |
| Or5ak23 |
T |
A |
2: 85,244,948 (GRCm39) |
I92L |
possibly damaging |
Het |
| Ppp1r3d |
T |
C |
2: 178,055,552 (GRCm39) |
E150G |
possibly damaging |
Het |
| Smpd1 |
A |
G |
7: 105,204,480 (GRCm39) |
M120V |
probably benign |
Het |
| Zbtb46 |
A |
G |
2: 181,053,629 (GRCm39) |
L361P |
probably benign |
Het |
| Zfp605 |
A |
G |
5: 110,275,863 (GRCm39) |
H327R |
probably damaging |
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 |
|
|
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 |
|
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'- TGCTCCTGCCAAACTATCACAG -3'
(R):5'- GGCCACTTTAGTCACTCTGC -3'
Sequencing Primer
(F):5'- AGACACAGCAAAGTCCTAGTC -3'
(R):5'- TCCAGCTGACACAGTTCCC -3'
|
| Posted On |
2018-07-23 |
Incidental Mutation