Incidental Mutation 'R5091:Gnl3'
| ID |
387772 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Gnl3
|
| Ensembl Gene |
ENSMUSG00000042354 |
| Gene Name |
guanine nucleotide binding protein nucleolar 3 |
| Synonyms |
NS, nucleostemin |
| MMRRC Submission |
042680-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R5091 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
14 |
| Chromosomal Location |
30734390-30741088 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 30738803 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Histidine to Leucine
at position 82
(H82L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000153981
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000022476]
[ENSMUST00000037739]
[ENSMUST00000052239]
[ENSMUST00000112094]
[ENSMUST00000112095]
[ENSMUST00000226740]
[ENSMUST00000146325]
[ENSMUST00000112098]
[ENSMUST00000144009]
[ENSMUST00000168584]
[ENSMUST00000112106]
[ENSMUST00000228341]
[ENSMUST00000227467]
|
| AlphaFold |
Q8CI11 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000022476
|
| SMART Domains |
Protein: ENSMUSP00000022476
Gene: ENSMUSG00000021916
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
7 |
26 |
N/A |
INTRINSIC |
|
Pfam:Glyco_transf_8
|
67 |
340 |
1.7e-69 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000037739
AA Change: H128L
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
| SMART Domains |
Protein: ENSMUSP00000047119
Gene: ENSMUSG00000042354
AA Change: H128L
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:GN3L_Grn1
|
16 |
90 |
4.3e-25 |
PFAM |
|
low complexity region
|
112 |
126 |
N/A |
INTRINSIC |
|
SCOP:d1egaa1
|
130 |
207 |
3e-3 |
SMART |
|
low complexity region
|
209 |
220 |
N/A |
INTRINSIC |
|
Pfam:MMR_HSR1
|
251 |
362 |
2.3e-10 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000052239
|
| SMART Domains |
Protein: ENSMUSP00000060476
Gene: ENSMUSG00000042323
| Domain | Start | End | E-Value | Type |
|---|
|
BROMO
|
43 |
153 |
4.97e-35 |
SMART |
|
BROMO
|
175 |
289 |
5.84e-41 |
SMART |
|
low complexity region
|
354 |
370 |
N/A |
INTRINSIC |
|
BROMO
|
379 |
489 |
1.57e-32 |
SMART |
|
BROMO
|
516 |
627 |
6.07e-39 |
SMART |
|
BROMO
|
651 |
765 |
3.01e-43 |
SMART |
|
BROMO
|
775 |
881 |
2.53e-18 |
SMART |
|
coiled coil region
|
907 |
934 |
N/A |
INTRINSIC |
|
BAH
|
956 |
1049 |
8.64e-22 |
SMART |
|
low complexity region
|
1058 |
1072 |
N/A |
INTRINSIC |
|
BAH
|
1131 |
1247 |
3.02e-35 |
SMART |
|
low complexity region
|
1293 |
1310 |
N/A |
INTRINSIC |
|
HMG
|
1326 |
1396 |
2.87e-13 |
SMART |
|
low complexity region
|
1405 |
1430 |
N/A |
INTRINSIC |
|
low complexity region
|
1449 |
1477 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000104024
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000104609
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000112094
|
| SMART Domains |
Protein: ENSMUSP00000107723
Gene: ENSMUSG00000042323
| Domain | Start | End | E-Value | Type |
|---|
|
BROMO
|
43 |
153 |
4.97e-35 |
SMART |
|
BROMO
|
175 |
289 |
5.84e-41 |
SMART |
|
low complexity region
|
322 |
338 |
N/A |
INTRINSIC |
|
BROMO
|
347 |
457 |
1.57e-32 |
SMART |
|
BROMO
|
484 |
595 |
6.07e-39 |
SMART |
|
BROMO
|
619 |
733 |
3.01e-43 |
SMART |
|
BROMO
|
743 |
849 |
2.53e-18 |
SMART |
|
coiled coil region
|
875 |
902 |
N/A |
INTRINSIC |
|
BAH
|
924 |
1042 |
1.33e-45 |
SMART |
|
low complexity region
|
1051 |
1065 |
N/A |
INTRINSIC |
|
BAH
|
1124 |
1240 |
3.02e-35 |
SMART |
|
low complexity region
|
1286 |
1306 |
N/A |
INTRINSIC |
|
HMG
|
1346 |
1416 |
2.87e-13 |
SMART |
|
low complexity region
|
1425 |
1450 |
N/A |
INTRINSIC |
|
low complexity region
|
1469 |
1497 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000112095
|
| SMART Domains |
Protein: ENSMUSP00000107724
Gene: ENSMUSG00000042323
| Domain | Start | End | E-Value | Type |
|---|
|
BROMO
|
43 |
153 |
4.97e-35 |
SMART |
|
BROMO
|
175 |
289 |
5.84e-41 |
SMART |
|
low complexity region
|
354 |
370 |
N/A |
INTRINSIC |
|
BROMO
|
379 |
489 |
1.57e-32 |
SMART |
|
BROMO
|
516 |
627 |
6.07e-39 |
SMART |
|
BROMO
|
651 |
765 |
3.01e-43 |
SMART |
|
BROMO
|
775 |
881 |
2.53e-18 |
SMART |
|
coiled coil region
|
907 |
934 |
N/A |
INTRINSIC |
|
BAH
|
956 |
1074 |
1.33e-45 |
SMART |
|
low complexity region
|
1083 |
1097 |
N/A |
INTRINSIC |
|
BAH
|
1156 |
1272 |
3.02e-35 |
SMART |
|
low complexity region
|
1318 |
1338 |
N/A |
INTRINSIC |
|
HMG
|
1378 |
1448 |
2.87e-13 |
SMART |
|
low complexity region
|
1457 |
1482 |
N/A |
INTRINSIC |
|
low complexity region
|
1501 |
1529 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000145497
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000157287
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000226740
AA Change: H128L
PolyPhen 2
Score 0.094 (Sensitivity: 0.93; Specificity: 0.85)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000146325
|
| SMART Domains |
Protein: ENSMUSP00000122805
Gene: ENSMUSG00000042323
| Domain | Start | End | E-Value | Type |
|---|
|
BROMO
|
64 |
174 |
4.97e-35 |
SMART |
|
BROMO
|
196 |
310 |
5.84e-41 |
SMART |
|
low complexity region
|
343 |
359 |
N/A |
INTRINSIC |
|
BROMO
|
368 |
478 |
1.57e-32 |
SMART |
|
BROMO
|
505 |
616 |
6.07e-39 |
SMART |
|
BROMO
|
640 |
754 |
3.01e-43 |
SMART |
|
BROMO
|
764 |
870 |
2.53e-18 |
SMART |
|
coiled coil region
|
896 |
923 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000226959
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000112098
|
| SMART Domains |
Protein: ENSMUSP00000107727
Gene: ENSMUSG00000042323
| Domain | Start | End | E-Value | Type |
|---|
|
BROMO
|
43 |
153 |
4.97e-35 |
SMART |
|
BROMO
|
175 |
289 |
5.84e-41 |
SMART |
|
low complexity region
|
354 |
370 |
N/A |
INTRINSIC |
|
BROMO
|
379 |
489 |
1.57e-32 |
SMART |
|
BROMO
|
531 |
642 |
6.07e-39 |
SMART |
|
BROMO
|
666 |
780 |
3.01e-43 |
SMART |
|
BROMO
|
790 |
896 |
2.53e-18 |
SMART |
|
coiled coil region
|
922 |
949 |
N/A |
INTRINSIC |
|
BAH
|
971 |
1089 |
1.33e-45 |
SMART |
|
low complexity region
|
1098 |
1112 |
N/A |
INTRINSIC |
|
BAH
|
1171 |
1287 |
3.02e-35 |
SMART |
|
low complexity region
|
1333 |
1353 |
N/A |
INTRINSIC |
|
HMG
|
1393 |
1463 |
1.62e-21 |
SMART |
|
low complexity region
|
1479 |
1490 |
N/A |
INTRINSIC |
|
low complexity region
|
1500 |
1515 |
N/A |
INTRINSIC |
|
low complexity region
|
1527 |
1552 |
N/A |
INTRINSIC |
|
low complexity region
|
1571 |
1599 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000227170
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000227087
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000144009
|
| SMART Domains |
Protein: ENSMUSP00000123518
Gene: ENSMUSG00000042323
| Domain | Start | End | E-Value | Type |
|---|
|
Blast:BROMO
|
40 |
68 |
8e-14 |
BLAST |
|
PDB:3IU5|A
|
64 |
84 |
8e-9 |
PDB |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000226379
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000226220
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000226348
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000168584
|
| SMART Domains |
Protein: ENSMUSP00000129323
Gene: ENSMUSG00000021916
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
7 |
26 |
N/A |
INTRINSIC |
|
Pfam:Glyco_transf_8
|
67 |
340 |
8.6e-55 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000112106
|
| SMART Domains |
Protein: ENSMUSP00000107734
Gene: ENSMUSG00000042323
| Domain | Start | End | E-Value | Type |
|---|
|
Blast:BROMO
|
61 |
91 |
6e-16 |
BLAST |
|
PDB:3IU5|A
|
61 |
91 |
6e-17 |
PDB |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000228341
AA Change: H82L
PolyPhen 2
Score 0.763 (Sensitivity: 0.85; Specificity: 0.92)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000227467
AA Change: H116L
PolyPhen 2
Score 0.248 (Sensitivity: 0.91; Specificity: 0.88)
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000227389
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000227869
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000228427
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000228739
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000228774
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000228713
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000227783
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000228255
|
| Meta Mutation Damage Score |
0.1795 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 96.8%
- 20x: 94.0%
|
| Validation Efficiency |
96% (67/70) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene may interact with p53 and may be involved in tumorigenesis. The encoded protein also appears to be important for stem cell proliferation. This protein is found in both the nucleus and nucleolus. Three transcript variants encoding two different isoforms have been found for this gene. [provided by RefSeq, Nov 2010]
PHENOTYPE: Homozygous disruption of this gene leads to early embryonic loss as blastocysts fail to enter the S phase. MEFs heterozygous for a gene trap allele have reduced proliferative capacity while MEFs heterozygous for a null allele show reduced doubling rates,increased apoptosis and premature senescence. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 57 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4833439L19Rik |
A |
G |
13: 54,701,057 (GRCm39) |
S174P |
probably damaging |
Het |
| 4931414P19Rik |
T |
C |
14: 54,823,168 (GRCm39) |
E343G |
probably damaging |
Het |
| Abca14 |
T |
C |
7: 119,851,497 (GRCm39) |
V825A |
probably damaging |
Het |
| Abca8b |
G |
T |
11: 109,827,210 (GRCm39) |
T1466K |
possibly damaging |
Het |
| Adcy8 |
A |
G |
15: 64,678,553 (GRCm39) |
S467P |
probably damaging |
Het |
| Agbl4 |
T |
C |
4: 110,976,237 (GRCm39) |
V198A |
possibly damaging |
Het |
| Agpat4 |
A |
G |
17: 12,417,699 (GRCm39) |
K80R |
probably benign |
Het |
| Akap8 |
T |
C |
17: 32,535,208 (GRCm39) |
T269A |
probably benign |
Het |
| Ankhd1 |
A |
T |
18: 36,758,080 (GRCm39) |
I925F |
possibly damaging |
Het |
| Aste1 |
A |
G |
9: 105,282,203 (GRCm39) |
Y57C |
probably damaging |
Het |
| Axdnd1 |
A |
G |
1: 156,247,980 (GRCm39) |
S7P |
possibly damaging |
Het |
| BC051019 |
T |
A |
7: 109,319,789 (GRCm39) |
R91S |
probably null |
Het |
| Cavin2 |
C |
A |
1: 51,340,398 (GRCm39) |
N358K |
probably benign |
Het |
| Cd2 |
T |
C |
3: 101,190,355 (GRCm39) |
N196S |
probably benign |
Het |
| Clca3a1 |
C |
T |
3: 144,436,483 (GRCm39) |
V867I |
probably benign |
Het |
| Col6a4 |
T |
A |
9: 105,952,262 (GRCm39) |
K545N |
probably damaging |
Het |
| Cps1 |
T |
A |
1: 67,268,679 (GRCm39) |
|
probably null |
Het |
| Cyp2c65 |
A |
T |
19: 39,076,009 (GRCm39) |
|
probably null |
Het |
| Dcaf6 |
T |
C |
1: 165,157,572 (GRCm39) |
D856G |
possibly damaging |
Het |
| Epcam |
T |
C |
17: 87,949,580 (GRCm39) |
I181T |
probably damaging |
Het |
| Esrp2 |
A |
G |
8: 106,859,061 (GRCm39) |
S562P |
probably damaging |
Het |
| Fcgbpl1 |
A |
C |
7: 27,856,383 (GRCm39) |
I2057L |
probably benign |
Het |
| Ffar4 |
A |
G |
19: 38,085,627 (GRCm39) |
D18G |
probably benign |
Het |
| Gen1 |
C |
T |
12: 11,296,347 (GRCm39) |
V337I |
probably damaging |
Het |
| Gimap8 |
C |
T |
6: 48,633,581 (GRCm39) |
P467S |
possibly damaging |
Het |
| Grid2 |
T |
C |
6: 64,053,862 (GRCm39) |
S354P |
probably benign |
Het |
| Ighmbp2 |
T |
A |
19: 3,315,084 (GRCm39) |
T779S |
possibly damaging |
Het |
| Ints15 |
C |
T |
5: 143,293,443 (GRCm39) |
E345K |
possibly damaging |
Het |
| Kif19a |
C |
A |
11: 114,673,923 (GRCm39) |
T348N |
probably damaging |
Het |
| Lrrc15 |
T |
A |
16: 30,092,172 (GRCm39) |
N389I |
probably damaging |
Het |
| Mrps26 |
A |
G |
2: 130,405,886 (GRCm39) |
Y63C |
probably damaging |
Het |
| Myd88 |
C |
A |
9: 119,166,889 (GRCm39) |
V223F |
possibly damaging |
Het |
| Nox4 |
T |
A |
7: 87,025,450 (GRCm39) |
W526R |
probably damaging |
Het |
| Nrg2 |
A |
T |
18: 36,185,838 (GRCm39) |
N300K |
probably damaging |
Het |
| Nsmf |
T |
C |
2: 24,950,464 (GRCm39) |
|
probably benign |
Het |
| Patl2 |
A |
C |
2: 121,954,283 (GRCm39) |
H429Q |
probably benign |
Het |
| Pcdhb12 |
A |
T |
18: 37,568,907 (GRCm39) |
K18* |
probably null |
Het |
| Peg10 |
T |
A |
6: 4,754,511 (GRCm39) |
D97E |
probably benign |
Het |
| Runx1t1 |
C |
T |
4: 13,846,830 (GRCm39) |
Q205* |
probably null |
Het |
| Selenon |
T |
C |
4: 134,275,284 (GRCm39) |
K138R |
probably damaging |
Het |
| Slc13a3 |
T |
C |
2: 165,262,000 (GRCm39) |
E369G |
probably benign |
Het |
| Sorcs1 |
A |
G |
19: 50,248,190 (GRCm39) |
|
probably null |
Het |
| Sptbn4 |
A |
T |
7: 27,068,816 (GRCm39) |
M499K |
probably damaging |
Het |
| Sra1 |
A |
T |
18: 36,803,012 (GRCm39) |
|
probably benign |
Het |
| Stra6 |
T |
C |
9: 58,048,429 (GRCm39) |
L174P |
probably damaging |
Het |
| Syngr1 |
T |
C |
15: 80,000,086 (GRCm39) |
Y66H |
probably damaging |
Het |
| Synpo |
G |
T |
18: 60,735,831 (GRCm39) |
S466* |
probably null |
Het |
| Tenm3 |
T |
A |
8: 48,795,343 (GRCm39) |
M595L |
probably benign |
Het |
| Tnks |
T |
C |
8: 35,308,963 (GRCm39) |
T1099A |
probably benign |
Het |
| Tram1l1 |
G |
T |
3: 124,115,400 (GRCm39) |
V187F |
possibly damaging |
Het |
| Trappc11 |
T |
C |
8: 47,965,639 (GRCm39) |
E529G |
probably benign |
Het |
| Usp17la |
T |
C |
7: 104,510,139 (GRCm39) |
V248A |
probably damaging |
Het |
| Virma |
T |
C |
4: 11,519,392 (GRCm39) |
Y880H |
probably benign |
Het |
| Vmn1r214 |
C |
T |
13: 23,219,571 (GRCm39) |
T355I |
possibly damaging |
Het |
| Vmn2r7 |
T |
C |
3: 64,598,205 (GRCm39) |
K784R |
possibly damaging |
Het |
| Wrap53 |
C |
T |
11: 69,453,273 (GRCm39) |
W389* |
probably null |
Het |
| Zfp748 |
A |
G |
13: 67,689,638 (GRCm39) |
S541P |
probably damaging |
Het |
|
| Other mutations in Gnl3 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00809:Gnl3
|
APN |
14 |
30,736,146 (GRCm39) |
missense |
possibly damaging |
0.71 |
|
IGL00826:Gnl3
|
APN |
14 |
30,734,753 (GRCm39) |
unclassified |
probably benign |
|
|
IGL02323:Gnl3
|
APN |
14 |
30,739,359 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0277:Gnl3
|
UTSW |
14 |
30,735,384 (GRCm39) |
critical splice donor site |
probably null |
|
|
R0636:Gnl3
|
UTSW |
14 |
30,739,110 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0727:Gnl3
|
UTSW |
14 |
30,739,034 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1459:Gnl3
|
UTSW |
14 |
30,739,803 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1474:Gnl3
|
UTSW |
14 |
30,738,418 (GRCm39) |
splice site |
probably benign |
|
|
R2016:Gnl3
|
UTSW |
14 |
30,738,326 (GRCm39) |
splice site |
probably null |
|
|
R2352:Gnl3
|
UTSW |
14 |
30,738,783 (GRCm39) |
critical splice donor site |
probably null |
|
|
R2517:Gnl3
|
UTSW |
14 |
30,736,120 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4115:Gnl3
|
UTSW |
14 |
30,738,813 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4697:Gnl3
|
UTSW |
14 |
30,739,286 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R4853:Gnl3
|
UTSW |
14 |
30,737,270 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4973:Gnl3
|
UTSW |
14 |
30,735,462 (GRCm39) |
missense |
possibly damaging |
0.68 |
|
R5580:Gnl3
|
UTSW |
14 |
30,737,242 (GRCm39) |
missense |
probably benign |
|
|
R5914:Gnl3
|
UTSW |
14 |
30,738,853 (GRCm39) |
missense |
possibly damaging |
0.85 |
|
R6898:Gnl3
|
UTSW |
14 |
30,735,136 (GRCm39) |
missense |
probably benign |
0.01 |
|
R7292:Gnl3
|
UTSW |
14 |
30,735,189 (GRCm39) |
missense |
probably benign |
|
|
R7372:Gnl3
|
UTSW |
14 |
30,738,843 (GRCm39) |
missense |
probably benign |
0.06 |
|
| Predicted Primers |
PCR Primer
(F):5'- GTGAGCTTGGGAAATGCATG -3'
(R):5'- TAAAACTTGCGTTCCTTGGGAG -3'
Sequencing Primer
(F):5'- CCTGAAATGGGGAGCTCTAGC -3'
(R):5'- TGCGTTCCTTGGGAGTAACAAAAC -3'
|
| Posted On |
2016-06-06 |
Incidental Mutation