Incidental Mutation 'R2517:Gnl3'
ID |
253974 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Gnl3
|
Ensembl Gene |
ENSMUSG00000042354 |
Gene Name |
guanine nucleotide binding protein nucleolar 3 |
Synonyms |
NS, nucleostemin |
MMRRC Submission |
040421-MU
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R2517 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
14 |
Chromosomal Location |
30734390-30741088 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 30736120 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Serine to Proline
at position 307
(S307P)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000047119
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000022476]
[ENSMUST00000037739]
[ENSMUST00000112095]
[ENSMUST00000112098]
[ENSMUST00000146325]
[ENSMUST00000226740]
[ENSMUST00000112106]
[ENSMUST00000168584]
[ENSMUST00000227467]
[ENSMUST00000228341]
|
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 damaging
Transcript: ENSMUST00000037739
AA Change: S307P
PolyPhen 2
Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
|
SMART Domains |
Protein: ENSMUSP00000047119 Gene: ENSMUSG00000042354 AA Change: S307P
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 |
noncoding transcript
Transcript: ENSMUST00000104024
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000104609
|
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 |
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: ENSMUST00000157287
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000227087
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000226271
|
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: ENSMUST00000226220
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000226740
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000226959
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000227170
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000226348
|
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 |
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: ENSMUST00000226379
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000227467
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000228739
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000228774
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000228255
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000228713
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000228427
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000227869
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000228341
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000227389
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000228718
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000227783
|
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 97.1%
- 20x: 94.2%
|
Validation Efficiency |
|
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: 60 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adcy4 |
C |
A |
14: 56,019,403 (GRCm39) |
E82D |
probably damaging |
Het |
Ago1 |
G |
A |
4: 126,333,732 (GRCm39) |
R486* |
probably null |
Het |
Ago2 |
T |
A |
15: 72,996,091 (GRCm39) |
N346I |
possibly damaging |
Het |
Apol11a |
A |
T |
15: 77,401,395 (GRCm39) |
D294V |
probably benign |
Het |
Atp13a5 |
A |
G |
16: 29,116,215 (GRCm39) |
F634L |
possibly damaging |
Het |
Atp2a2 |
G |
A |
5: 122,595,576 (GRCm39) |
P953L |
probably damaging |
Het |
Brca2 |
A |
G |
5: 150,463,137 (GRCm39) |
D967G |
probably benign |
Het |
Bud13 |
A |
T |
9: 46,199,446 (GRCm39) |
H269L |
probably benign |
Het |
Cachd1 |
A |
T |
4: 100,838,079 (GRCm39) |
|
probably null |
Het |
Cog3 |
T |
C |
14: 75,979,182 (GRCm39) |
D188G |
probably benign |
Het |
Col15a1 |
T |
C |
4: 47,208,492 (GRCm39) |
S20P |
probably damaging |
Het |
Col4a3 |
A |
G |
1: 82,658,431 (GRCm39) |
D838G |
unknown |
Het |
Cwh43 |
A |
T |
5: 73,578,886 (GRCm39) |
T298S |
probably benign |
Het |
Dip2c |
A |
G |
13: 9,659,041 (GRCm39) |
R847G |
probably damaging |
Het |
Dnah2 |
C |
T |
11: 69,407,470 (GRCm39) |
D438N |
probably damaging |
Het |
Drg2 |
T |
C |
11: 60,358,954 (GRCm39) |
V358A |
probably damaging |
Het |
Eif4enif1 |
T |
A |
11: 3,171,168 (GRCm39) |
W220R |
probably damaging |
Het |
Enpp2 |
A |
T |
15: 54,783,090 (GRCm39) |
I75K |
probably damaging |
Het |
Fam110c |
T |
C |
12: 31,125,238 (GRCm39) |
I400T |
probably damaging |
Het |
Fam193b |
C |
A |
13: 55,690,629 (GRCm39) |
R711L |
probably damaging |
Het |
Fgfr1 |
T |
C |
8: 26,053,462 (GRCm39) |
Y246H |
probably damaging |
Het |
Frs3 |
G |
A |
17: 48,013,997 (GRCm39) |
R230Q |
probably benign |
Het |
Galnt5 |
A |
G |
2: 57,889,425 (GRCm39) |
K342E |
probably benign |
Het |
Glrb |
A |
T |
3: 80,769,054 (GRCm39) |
L189Q |
probably damaging |
Het |
Gmeb2 |
T |
C |
2: 180,900,819 (GRCm39) |
T193A |
probably benign |
Het |
Golim4 |
A |
T |
3: 75,800,166 (GRCm39) |
F443I |
probably benign |
Het |
Hivep2 |
C |
A |
10: 14,004,713 (GRCm39) |
T437K |
probably benign |
Het |
Klf10 |
A |
C |
15: 38,297,357 (GRCm39) |
Y228D |
probably benign |
Het |
Klrc3 |
A |
T |
6: 129,616,520 (GRCm39) |
W166R |
probably damaging |
Het |
Kng2 |
A |
T |
16: 22,807,065 (GRCm39) |
I378N |
probably benign |
Het |
Map3k10 |
T |
C |
7: 27,362,688 (GRCm39) |
K466R |
possibly damaging |
Het |
Mrrf |
C |
T |
2: 36,079,109 (GRCm39) |
T245M |
probably benign |
Het |
Msi1 |
A |
G |
5: 115,583,517 (GRCm39) |
Y239C |
probably damaging |
Het |
Nfasc |
A |
G |
1: 132,525,501 (GRCm39) |
|
probably null |
Het |
Or1x6 |
T |
A |
11: 50,939,300 (GRCm39) |
L122Q |
probably damaging |
Het |
Or7g25 |
A |
T |
9: 19,160,357 (GRCm39) |
C113S |
probably benign |
Het |
P3r3urf |
A |
G |
4: 116,030,791 (GRCm39) |
D65G |
probably benign |
Het |
Pkd1l1 |
T |
C |
11: 8,908,900 (GRCm39) |
E368G |
unknown |
Het |
Polq |
G |
A |
16: 36,909,687 (GRCm39) |
G2078D |
probably damaging |
Het |
Ppfibp1 |
A |
C |
6: 146,893,942 (GRCm39) |
I134L |
probably damaging |
Het |
Rasip1 |
A |
T |
7: 45,284,247 (GRCm39) |
I608F |
probably damaging |
Het |
Ripk3 |
A |
T |
14: 56,025,492 (GRCm39) |
V24E |
probably damaging |
Het |
Rtkn |
T |
A |
6: 83,124,526 (GRCm39) |
I110N |
probably damaging |
Het |
Scn1a |
C |
T |
2: 66,104,176 (GRCm39) |
V1695I |
probably damaging |
Het |
Shank2 |
A |
G |
7: 143,606,042 (GRCm39) |
N75S |
possibly damaging |
Het |
Snu13 |
C |
A |
15: 81,928,182 (GRCm39) |
A14S |
probably benign |
Het |
Snx27 |
A |
C |
3: 94,438,541 (GRCm39) |
D231E |
probably damaging |
Het |
Spef2 |
A |
G |
15: 9,725,283 (GRCm39) |
I158T |
possibly damaging |
Het |
Sptb |
A |
G |
12: 76,696,643 (GRCm39) |
I19T |
possibly damaging |
Het |
Ssu72 |
T |
C |
4: 155,817,970 (GRCm39) |
L175P |
probably damaging |
Het |
Tcstv2a |
T |
A |
13: 120,725,475 (GRCm39) |
C46* |
probably null |
Het |
Tecr |
C |
T |
8: 84,299,204 (GRCm39) |
V248I |
probably benign |
Het |
Tnfrsf13b |
T |
G |
11: 61,032,302 (GRCm39) |
S59A |
probably benign |
Het |
Tom1l1 |
T |
C |
11: 90,561,951 (GRCm39) |
T150A |
possibly damaging |
Het |
Ubr3 |
A |
T |
2: 69,766,362 (GRCm39) |
Y410F |
probably damaging |
Het |
Vmn2r108 |
A |
G |
17: 20,692,577 (GRCm39) |
I93T |
probably damaging |
Het |
Vmn2r19 |
A |
G |
6: 123,306,937 (GRCm39) |
T482A |
probably benign |
Het |
Vstm4 |
T |
A |
14: 32,585,664 (GRCm39) |
M77K |
probably benign |
Het |
Zbtb17 |
C |
T |
4: 141,191,896 (GRCm39) |
T309I |
probably damaging |
Het |
Zfp957 |
T |
C |
14: 79,451,494 (GRCm39) |
T102A |
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 |
|
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 |
R5091:Gnl3
|
UTSW |
14 |
30,738,803 (GRCm39) |
missense |
possibly damaging |
0.76 |
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'- TGCAGAGAATCCTTATACTCAGGG -3'
(R):5'- CTGACTTAACTGCTGTGCTGAG -3'
Sequencing Primer
(F):5'- TGTGAAGGTCCAGAGTTCAAATCCC -3'
(R):5'- TGTCCTCAGATGGACAGT -3'
|
Posted On |
2014-12-04 |