Incidental Mutation 'R6532:Nvl'
| ID |
522394 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Nvl
|
| Ensembl Gene |
ENSMUSG00000026516 |
| Gene Name |
nuclear VCP-like |
| Synonyms |
1200009I24Rik |
| MMRRC Submission |
044658-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.960)
|
| Stock # |
R6532 (G1)
|
| Quality Score |
132.008 |
|
Status
|
Not validated
|
| Chromosome |
1 |
| Chromosomal Location |
180914703-180971769 bp(-) (GRCm39) |
| Type of Mutation |
splice site |
| DNA Base Change (assembly) |
G to A
at 180971708 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000141442
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000027797]
[ENSMUST00000193907]
|
| AlphaFold |
Q9DBY8 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000027797
|
| SMART Domains |
Protein: ENSMUSP00000027797
Gene: ENSMUSG00000026516
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Nucleolin_bd
|
2 |
72 |
1.9e-31 |
PFAM |
|
low complexity region
|
90 |
104 |
N/A |
INTRINSIC |
|
low complexity region
|
187 |
201 |
N/A |
INTRINSIC |
|
low complexity region
|
216 |
230 |
N/A |
INTRINSIC |
|
AAA
|
296 |
435 |
2.94e-23 |
SMART |
|
low complexity region
|
524 |
540 |
N/A |
INTRINSIC |
|
AAA
|
613 |
749 |
2.56e-23 |
SMART |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000193907
|
| SMART Domains |
Protein: ENSMUSP00000141442
Gene: ENSMUSG00000062169
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Cornichon
|
1 |
70 |
1.9e-20 |
PFAM |
|
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.4%
- 10x: 97.2%
- 20x: 91.1%
|
| Validation Efficiency |
100% (34/34) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the AAA (ATPases associated with diverse cellular activities) superfamily. Multiple transcript variants encoding different isoforms have been found for this gene. Two encoded proteins, described as major and minor isoforms, have been localized to distinct regions of the nucleus. The largest encoded protein (major isoform) has been localized to the nucleolus and shown to participate in ribosome biosynthesis (PMID: 15469983, 16782053), while the minor isoform has been localized to the nucleoplasmin. [provided by RefSeq, Aug 2011]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 33 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcc6 |
A |
G |
7: 45,626,803 (GRCm39) |
L1418P |
probably damaging |
Het |
| Adal |
A |
G |
2: 120,976,604 (GRCm39) |
|
probably null |
Het |
| Atr |
T |
A |
9: 95,790,461 (GRCm39) |
N1600K |
probably benign |
Het |
| Cubn |
T |
C |
2: 13,463,813 (GRCm39) |
T631A |
probably benign |
Het |
| Dpp9 |
C |
T |
17: 56,512,854 (GRCm39) |
G118D |
possibly damaging |
Het |
| Ear1 |
C |
T |
14: 44,056,709 (GRCm39) |
R53H |
probably benign |
Het |
| Exoc1 |
T |
C |
5: 76,685,684 (GRCm39) |
V132A |
probably damaging |
Het |
| Fam227a |
C |
T |
15: 79,520,921 (GRCm39) |
R301Q |
probably benign |
Het |
| Garnl3 |
A |
T |
2: 32,921,131 (GRCm39) |
M298K |
possibly damaging |
Het |
| Glb1l3 |
T |
C |
9: 26,729,738 (GRCm39) |
D619G |
probably benign |
Het |
| Haspin |
A |
T |
11: 73,028,377 (GRCm39) |
C237* |
probably null |
Het |
| Hook1 |
T |
G |
4: 95,907,993 (GRCm39) |
|
probably null |
Het |
| Hoxa7 |
A |
G |
6: 52,194,295 (GRCm39) |
F31L |
probably benign |
Het |
| Hoxb7 |
C |
A |
11: 96,177,714 (GRCm39) |
S54* |
probably null |
Het |
| Idh3b |
AG |
AGCACCACAACTG |
2: 130,121,593 (GRCm39) |
|
probably null |
Het |
| Ifi207 |
A |
G |
1: 173,557,211 (GRCm39) |
V516A |
possibly damaging |
Het |
| Inca1 |
T |
C |
11: 70,586,733 (GRCm39) |
M1V |
probably null |
Het |
| Kcnt2 |
A |
G |
1: 140,511,844 (GRCm39) |
T933A |
probably damaging |
Het |
| Lama4 |
G |
A |
10: 38,924,073 (GRCm39) |
D494N |
possibly damaging |
Het |
| Lrp1 |
A |
C |
10: 127,377,551 (GRCm39) |
H4133Q |
probably damaging |
Het |
| Lrp1 |
A |
G |
10: 127,385,276 (GRCm39) |
F3542L |
probably damaging |
Het |
| Myo1f |
A |
G |
17: 33,794,820 (GRCm39) |
D20G |
probably damaging |
Het |
| Nlk |
G |
T |
11: 78,586,881 (GRCm39) |
A71E |
probably damaging |
Het |
| Or9m1 |
A |
T |
2: 87,733,546 (GRCm39) |
I158N |
probably damaging |
Het |
| Pakap |
T |
C |
4: 57,855,174 (GRCm39) |
F168L |
probably benign |
Het |
| Pcnx1 |
C |
A |
12: 82,027,738 (GRCm39) |
H1601N |
probably damaging |
Het |
| Pnkp |
T |
A |
7: 44,506,829 (GRCm39) |
M1K |
probably null |
Het |
| Skic2 |
G |
A |
17: 35,063,719 (GRCm39) |
R575C |
probably damaging |
Het |
| Slc25a54 |
A |
G |
3: 109,019,368 (GRCm39) |
Y324C |
probably damaging |
Het |
| Tdrd3 |
A |
G |
14: 87,743,252 (GRCm39) |
E400G |
probably damaging |
Het |
| Unc5b |
A |
G |
10: 60,614,607 (GRCm39) |
I230T |
possibly damaging |
Het |
| Wfdc2 |
A |
G |
2: 164,405,296 (GRCm39) |
T50A |
probably benign |
Het |
| Zfp563 |
A |
G |
17: 33,324,672 (GRCm39) |
I422M |
probably benign |
Het |
|
| Other mutations in Nvl |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00848:Nvl
|
APN |
1 |
180,932,690 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL00943:Nvl
|
APN |
1 |
180,929,199 (GRCm39) |
missense |
possibly damaging |
0.72 |
|
IGL01956:Nvl
|
APN |
1 |
180,962,509 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL02657:Nvl
|
APN |
1 |
180,934,541 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Nineveh
|
UTSW |
1 |
180,964,471 (GRCm39) |
missense |
probably benign |
0.00 |
|
nubia
|
UTSW |
1 |
180,939,899 (GRCm39) |
missense |
probably benign |
0.19 |
|
IGL03098:Nvl
|
UTSW |
1 |
180,921,471 (GRCm39) |
missense |
probably benign |
0.37 |
|
P0047:Nvl
|
UTSW |
1 |
180,939,867 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0003:Nvl
|
UTSW |
1 |
180,941,698 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0114:Nvl
|
UTSW |
1 |
180,947,956 (GRCm39) |
missense |
probably benign |
0.19 |
|
R0265:Nvl
|
UTSW |
1 |
180,962,395 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R0928:Nvl
|
UTSW |
1 |
180,921,467 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1398:Nvl
|
UTSW |
1 |
180,924,691 (GRCm39) |
splice site |
probably benign |
|
|
R1470:Nvl
|
UTSW |
1 |
180,966,827 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1470:Nvl
|
UTSW |
1 |
180,966,827 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1529:Nvl
|
UTSW |
1 |
180,936,724 (GRCm39) |
critical splice donor site |
probably null |
|
|
R1934:Nvl
|
UTSW |
1 |
180,926,693 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R2176:Nvl
|
UTSW |
1 |
180,962,639 (GRCm39) |
splice site |
probably benign |
|
|
R2351:Nvl
|
UTSW |
1 |
180,958,357 (GRCm39) |
missense |
probably benign |
0.03 |
|
R4415:Nvl
|
UTSW |
1 |
180,932,679 (GRCm39) |
missense |
probably benign |
|
|
R4570:Nvl
|
UTSW |
1 |
180,971,647 (GRCm39) |
missense |
probably benign |
0.03 |
|
R4720:Nvl
|
UTSW |
1 |
180,929,152 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4888:Nvl
|
UTSW |
1 |
180,945,191 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5026:Nvl
|
UTSW |
1 |
180,932,720 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5507:Nvl
|
UTSW |
1 |
180,962,601 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R5785:Nvl
|
UTSW |
1 |
180,966,863 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5983:Nvl
|
UTSW |
1 |
180,964,471 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6143:Nvl
|
UTSW |
1 |
180,962,560 (GRCm39) |
missense |
probably benign |
0.01 |
|
R6821:Nvl
|
UTSW |
1 |
180,954,535 (GRCm39) |
nonsense |
probably null |
|
|
R7062:Nvl
|
UTSW |
1 |
180,939,899 (GRCm39) |
missense |
probably benign |
0.19 |
|
R7247:Nvl
|
UTSW |
1 |
180,939,851 (GRCm39) |
critical splice donor site |
probably null |
|
|
R7358:Nvl
|
UTSW |
1 |
180,962,601 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R7665:Nvl
|
UTSW |
1 |
180,962,509 (GRCm39) |
missense |
probably benign |
0.18 |
|
R7795:Nvl
|
UTSW |
1 |
180,924,722 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7931:Nvl
|
UTSW |
1 |
180,936,720 (GRCm39) |
splice site |
probably benign |
|
|
R8185:Nvl
|
UTSW |
1 |
180,971,739 (GRCm39) |
unclassified |
probably benign |
|
|
R8806:Nvl
|
UTSW |
1 |
180,922,619 (GRCm39) |
missense |
probably benign |
0.01 |
|
R8933:Nvl
|
UTSW |
1 |
180,966,638 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8975:Nvl
|
UTSW |
1 |
180,958,001 (GRCm39) |
missense |
probably benign |
|
|
R9249:Nvl
|
UTSW |
1 |
180,962,593 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9584:Nvl
|
UTSW |
1 |
180,958,431 (GRCm39) |
missense |
probably benign |
|
|
R9586:Nvl
|
UTSW |
1 |
180,932,635 (GRCm39) |
critical splice donor site |
probably null |
|
|
X0067:Nvl
|
UTSW |
1 |
180,966,723 (GRCm39) |
missense |
possibly damaging |
0.58 |
|
| Predicted Primers |
|
| Posted On |
2018-06-06 |
Incidental Mutation