Incidental Mutation 'R5507:Nvl'
| ID |
430955 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Nvl
|
| Ensembl Gene |
ENSMUSG00000026516 |
| Gene Name |
nuclear VCP-like |
| Synonyms |
1200009I24Rik |
| MMRRC Submission |
043068-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.960)
|
| Stock # |
R5507 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
1 |
| Chromosomal Location |
180914703-180971769 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 180962601 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Proline
at position 123
(L123P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000027797
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000027797]
|
| AlphaFold |
Q9DBY8 |
| PDB Structure |
Structure and function of the N-terminal nucleolin binding domain of nuclear valocine containing protein like 2 (NVL2) harboring a nucleolar localization signal [SOLUTION NMR]
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000027797
AA Change: L123P
PolyPhen 2
Score 0.983 (Sensitivity: 0.75; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000027797
Gene: ENSMUSG00000026516
AA Change: L123P
| 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 |
noncoding transcript
Transcript: ENSMUST00000193758
|
| Meta Mutation Damage Score |
0.2657 |
| Coding Region Coverage |
- 1x: 98.3%
- 3x: 97.3%
- 10x: 95.3%
- 20x: 91.2%
|
| Validation Efficiency |
100% (66/66) |
| 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: 58 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700009N14Rik |
A |
G |
4: 39,451,084 (GRCm39) |
T97A |
probably damaging |
Het |
| 1700017N19Rik |
T |
C |
10: 100,445,095 (GRCm39) |
S27P |
probably benign |
Het |
| Acoxl |
C |
A |
2: 127,726,394 (GRCm39) |
A256E |
probably damaging |
Het |
| Akap9 |
A |
G |
5: 4,018,683 (GRCm39) |
E1088G |
probably benign |
Het |
| Alox12 |
T |
C |
11: 70,145,238 (GRCm39) |
T112A |
possibly damaging |
Het |
| Ampd2 |
A |
G |
3: 107,984,929 (GRCm39) |
V379A |
probably damaging |
Het |
| Ap4e1 |
C |
A |
2: 126,850,818 (GRCm39) |
H49N |
probably damaging |
Het |
| Arhgap11a |
T |
C |
2: 113,672,023 (GRCm39) |
T260A |
probably benign |
Het |
| Atg2a |
T |
C |
19: 6,295,100 (GRCm39) |
F171S |
possibly damaging |
Het |
| Bpifb9b |
A |
T |
2: 154,158,947 (GRCm39) |
Y488F |
possibly damaging |
Het |
| C2cd2 |
T |
C |
16: 97,682,820 (GRCm39) |
T139A |
probably benign |
Het |
| Cct8l1 |
A |
T |
5: 25,721,377 (GRCm39) |
T31S |
probably benign |
Het |
| Cdhr1 |
A |
T |
14: 36,804,802 (GRCm39) |
N469K |
probably damaging |
Het |
| Chga |
T |
C |
12: 102,528,868 (GRCm39) |
S282P |
probably benign |
Het |
| Chrnb4 |
T |
G |
9: 54,942,296 (GRCm39) |
H326P |
probably damaging |
Het |
| Cntnap1 |
A |
G |
11: 101,074,303 (GRCm39) |
T748A |
probably benign |
Het |
| Cpsf3 |
T |
A |
12: 21,347,929 (GRCm39) |
L250H |
probably damaging |
Het |
| Dnajb12 |
GC |
G |
10: 59,728,574 (GRCm39) |
|
probably null |
Het |
| Dppa5a |
T |
A |
9: 78,275,353 (GRCm39) |
D10V |
possibly damaging |
Het |
| Dsc2 |
G |
A |
18: 20,179,336 (GRCm39) |
T244I |
probably damaging |
Het |
| Elavl4 |
T |
C |
4: 110,070,403 (GRCm39) |
T144A |
probably benign |
Het |
| Ephb1 |
C |
T |
9: 101,813,315 (GRCm39) |
V776M |
probably damaging |
Het |
| Fcrl1 |
C |
T |
3: 87,298,549 (GRCm39) |
S348F |
probably benign |
Het |
| Fga |
T |
A |
3: 82,940,643 (GRCm39) |
W766R |
probably damaging |
Het |
| Galnt14 |
A |
G |
17: 73,802,661 (GRCm39) |
V477A |
probably damaging |
Het |
| Gcdh |
A |
G |
8: 85,619,486 (GRCm39) |
L103P |
probably damaging |
Het |
| Gm27013 |
G |
A |
6: 130,652,942 (GRCm39) |
T840I |
probably damaging |
Het |
| Gpr179 |
A |
T |
11: 97,229,156 (GRCm39) |
W1000R |
probably damaging |
Het |
| Hectd4 |
C |
T |
5: 121,419,164 (GRCm39) |
A581V |
unknown |
Het |
| Ints12 |
T |
A |
3: 132,814,921 (GRCm39) |
V376E |
probably damaging |
Het |
| Krt77 |
T |
C |
15: 101,769,665 (GRCm39) |
I402V |
probably benign |
Het |
| Marchf1 |
T |
C |
8: 66,871,542 (GRCm39) |
V102A |
probably damaging |
Het |
| Meis1 |
A |
T |
11: 18,966,168 (GRCm39) |
N68K |
probably benign |
Het |
| Mthfd1l |
A |
G |
10: 4,056,432 (GRCm39) |
E916G |
probably benign |
Het |
| Muc5ac |
T |
C |
7: 141,361,569 (GRCm39) |
F1627L |
possibly damaging |
Het |
| Myef2 |
A |
T |
2: 124,958,623 (GRCm39) |
M102K |
probably benign |
Het |
| Naip6 |
A |
C |
13: 100,435,423 (GRCm39) |
H1033Q |
probably benign |
Het |
| Nid1 |
T |
A |
13: 13,663,622 (GRCm39) |
C760* |
probably null |
Het |
| Nt5dc1 |
A |
T |
10: 34,273,226 (GRCm39) |
C191S |
probably benign |
Het |
| Nup214 |
A |
G |
2: 31,878,188 (GRCm39) |
E285G |
possibly damaging |
Het |
| Or5t9 |
T |
A |
2: 86,659,661 (GRCm39) |
H188Q |
probably damaging |
Het |
| Otog |
A |
G |
7: 45,911,123 (GRCm39) |
E658G |
probably damaging |
Het |
| Pam16 |
G |
T |
16: 4,435,880 (GRCm39) |
|
probably benign |
Het |
| Psg17 |
T |
C |
7: 18,553,851 (GRCm39) |
D133G |
probably benign |
Het |
| Rabgap1l |
A |
G |
1: 160,178,898 (GRCm39) |
S21P |
possibly damaging |
Het |
| Rgs22 |
T |
A |
15: 36,099,798 (GRCm39) |
M306L |
probably damaging |
Het |
| Ruvbl1 |
A |
G |
6: 88,444,582 (GRCm39) |
K59R |
probably benign |
Het |
| Samd9l |
T |
C |
6: 3,373,898 (GRCm39) |
E1121G |
possibly damaging |
Het |
| Serpinb13 |
A |
G |
1: 106,926,332 (GRCm39) |
N169S |
probably benign |
Het |
| Setbp1 |
T |
A |
18: 79,129,927 (GRCm39) |
T102S |
probably damaging |
Het |
| Syn3 |
A |
T |
10: 85,916,090 (GRCm39) |
S299T |
probably benign |
Het |
| Taar7a |
A |
G |
10: 23,868,529 (GRCm39) |
L284P |
probably damaging |
Het |
| Tlr6 |
C |
A |
5: 65,110,749 (GRCm39) |
Q719H |
probably damaging |
Het |
| Tmem131 |
T |
A |
1: 36,928,361 (GRCm39) |
D76V |
probably damaging |
Het |
| Tradd |
T |
G |
8: 105,986,257 (GRCm39) |
D145A |
possibly damaging |
Het |
| Usp20 |
A |
T |
2: 30,900,238 (GRCm39) |
M251L |
probably benign |
Het |
| Vmn2r96 |
T |
A |
17: 18,818,091 (GRCm39) |
L556Q |
probably damaging |
Het |
| Xrcc2 |
A |
G |
5: 25,897,317 (GRCm39) |
S211P |
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 |
|
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 |
|
R6532:Nvl
|
UTSW |
1 |
180,971,708 (GRCm39) |
splice site |
probably null |
|
|
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 |
PCR Primer
(F):5'- TTCCACCGGGAGTTTTGTC -3'
(R):5'- CATGGTTCTCTGTTAGCCAAGAG -3'
Sequencing Primer
(F):5'- CCGGGAGTTTTGTCAATAAACCATCC -3'
(R):5'- CCAAGAGTGGTTTAGTAGTTTCAG -3'
|
| Posted On |
2016-10-05 |
Incidental Mutation