Incidental Mutation 'R2383:Nap1l1'
ID |
247609 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Nap1l1
|
Ensembl Gene |
ENSMUSG00000058799 |
Gene Name |
nucleosome assembly protein 1-like 1 |
Synonyms |
D10Ertd68e |
Accession Numbers |
|
Essential gene? |
Possibly non essential
(E-score: 0.333)
|
Stock # |
R2383 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
10 |
Chromosomal Location |
111309084-111334011 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to G
at 111329272 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Aspartic acid to Glutamic Acid
at position 295
(D295E)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000151700
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000065917]
[ENSMUST00000171797]
[ENSMUST00000217908]
[ENSMUST00000218828]
[ENSMUST00000219143]
[ENSMUST00000219961]
|
AlphaFold |
P28656 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000065917
AA Change: D295E
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000070068 Gene: ENSMUSG00000058799 AA Change: D295E
Domain | Start | End | E-Value | Type |
coiled coil region
|
6 |
31 |
N/A |
INTRINSIC |
Pfam:NAP
|
75 |
346 |
1.5e-96 |
PFAM |
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000171797
AA Change: D322E
PolyPhen 2
Score 0.769 (Sensitivity: 0.85; Specificity: 0.92)
|
SMART Domains |
Protein: ENSMUSP00000126850 Gene: ENSMUSG00000058799 AA Change: D322E
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
24 |
N/A |
INTRINSIC |
coiled coil region
|
33 |
58 |
N/A |
INTRINSIC |
Pfam:NAP
|
103 |
372 |
9.6e-110 |
PFAM |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000217908
AA Change: D295E
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000218828
AA Change: D295E
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000218982
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000219143
AA Change: D295E
PolyPhen 2
Score 0.345 (Sensitivity: 0.90; Specificity: 0.89)
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000219718
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000219961
AA Change: D295E
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.5%
- 10x: 96.9%
- 20x: 93.6%
|
Validation Efficiency |
|
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 nucleosome assembly protein (NAP) family. This protein participates in DNA replication and may play a role in modulating chromatin formation and contribute to the regulation of cell proliferation. Alternative splicing results in multiple transcript variants encoding different isoforms; however, not all have been fully described. [provided by RefSeq, Apr 2015]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 23 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adam33 |
T |
C |
2: 130,893,282 (GRCm39) |
T748A |
probably benign |
Het |
Afg3l2 |
A |
G |
18: 67,556,026 (GRCm39) |
V435A |
possibly damaging |
Het |
Ccdc170 |
G |
A |
10: 4,484,208 (GRCm39) |
E345K |
probably benign |
Het |
Chd2 |
T |
C |
7: 73,153,168 (GRCm39) |
I227V |
possibly damaging |
Het |
Cndp2 |
C |
A |
18: 84,693,215 (GRCm39) |
D182Y |
possibly damaging |
Het |
Col14a1 |
A |
T |
15: 55,310,913 (GRCm39) |
|
probably benign |
Het |
Cyp2e1 |
C |
T |
7: 140,349,981 (GRCm39) |
S222L |
probably benign |
Het |
Evx2 |
T |
C |
2: 74,488,393 (GRCm39) |
|
probably null |
Het |
Kics2 |
A |
G |
10: 121,586,554 (GRCm39) |
T290A |
possibly damaging |
Het |
L1td1 |
A |
G |
4: 98,625,959 (GRCm39) |
E718G |
possibly damaging |
Het |
Lgr4 |
T |
C |
2: 109,830,960 (GRCm39) |
S296P |
probably damaging |
Het |
Lrrc7 |
T |
C |
3: 157,869,593 (GRCm39) |
M709V |
probably benign |
Het |
Mtbp |
G |
A |
15: 55,429,590 (GRCm39) |
G162D |
probably damaging |
Het |
Or2f1b |
A |
T |
6: 42,739,393 (GRCm39) |
M136L |
probably benign |
Het |
Plrg1 |
C |
T |
3: 82,973,255 (GRCm39) |
P178S |
probably damaging |
Het |
Serpina1b |
T |
A |
12: 103,694,539 (GRCm39) |
I402F |
probably benign |
Het |
Sla |
T |
A |
15: 66,654,525 (GRCm39) |
I254F |
probably damaging |
Het |
Slc25a29 |
A |
G |
12: 108,792,934 (GRCm39) |
S215P |
probably damaging |
Het |
Thoc2l |
T |
C |
5: 104,666,854 (GRCm39) |
S459P |
probably benign |
Het |
Tiam1 |
A |
G |
16: 89,595,572 (GRCm39) |
V1303A |
probably benign |
Het |
Trim45 |
A |
T |
3: 100,832,543 (GRCm39) |
I259F |
probably damaging |
Het |
Ttn |
T |
C |
2: 76,536,856 (GRCm39) |
S34990G |
probably benign |
Het |
Zbtb48 |
A |
G |
4: 152,111,407 (GRCm39) |
V36A |
probably damaging |
Het |
|
Other mutations in Nap1l1 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01154:Nap1l1
|
APN |
10 |
111,322,536 (GRCm39) |
missense |
probably damaging |
0.98 |
IGL01453:Nap1l1
|
APN |
10 |
111,328,839 (GRCm39) |
missense |
probably benign |
0.09 |
IGL01734:Nap1l1
|
APN |
10 |
111,328,760 (GRCm39) |
missense |
probably benign |
0.26 |
IGL01843:Nap1l1
|
APN |
10 |
111,328,772 (GRCm39) |
missense |
possibly damaging |
0.93 |
PIT1430001:Nap1l1
|
UTSW |
10 |
111,322,597 (GRCm39) |
missense |
probably damaging |
1.00 |
PIT4131001:Nap1l1
|
UTSW |
10 |
111,322,583 (GRCm39) |
missense |
probably null |
|
R0020:Nap1l1
|
UTSW |
10 |
111,326,884 (GRCm39) |
missense |
probably benign |
0.01 |
R0020:Nap1l1
|
UTSW |
10 |
111,326,884 (GRCm39) |
missense |
probably benign |
0.01 |
R0131:Nap1l1
|
UTSW |
10 |
111,321,370 (GRCm39) |
missense |
probably benign |
0.17 |
R0131:Nap1l1
|
UTSW |
10 |
111,321,370 (GRCm39) |
missense |
probably benign |
0.17 |
R0132:Nap1l1
|
UTSW |
10 |
111,321,370 (GRCm39) |
missense |
probably benign |
0.17 |
R0601:Nap1l1
|
UTSW |
10 |
111,326,224 (GRCm39) |
splice site |
probably benign |
|
R1576:Nap1l1
|
UTSW |
10 |
111,330,681 (GRCm39) |
missense |
probably damaging |
1.00 |
R1619:Nap1l1
|
UTSW |
10 |
111,329,240 (GRCm39) |
missense |
possibly damaging |
0.77 |
R1969:Nap1l1
|
UTSW |
10 |
111,326,914 (GRCm39) |
missense |
probably benign |
0.03 |
R2071:Nap1l1
|
UTSW |
10 |
111,328,761 (GRCm39) |
missense |
possibly damaging |
0.46 |
R3836:Nap1l1
|
UTSW |
10 |
111,331,183 (GRCm39) |
splice site |
probably null |
|
R3837:Nap1l1
|
UTSW |
10 |
111,331,183 (GRCm39) |
splice site |
probably null |
|
R3838:Nap1l1
|
UTSW |
10 |
111,331,183 (GRCm39) |
splice site |
probably null |
|
R3839:Nap1l1
|
UTSW |
10 |
111,331,183 (GRCm39) |
splice site |
probably null |
|
R4084:Nap1l1
|
UTSW |
10 |
111,325,938 (GRCm39) |
missense |
possibly damaging |
0.92 |
R4609:Nap1l1
|
UTSW |
10 |
111,328,741 (GRCm39) |
nonsense |
probably null |
|
R4985:Nap1l1
|
UTSW |
10 |
111,325,944 (GRCm39) |
missense |
probably benign |
0.01 |
R5906:Nap1l1
|
UTSW |
10 |
111,326,891 (GRCm39) |
nonsense |
probably null |
|
R5982:Nap1l1
|
UTSW |
10 |
111,331,229 (GRCm39) |
missense |
possibly damaging |
0.71 |
R6522:Nap1l1
|
UTSW |
10 |
111,330,084 (GRCm39) |
missense |
probably damaging |
0.99 |
R6868:Nap1l1
|
UTSW |
10 |
111,330,669 (GRCm39) |
missense |
probably damaging |
1.00 |
R7134:Nap1l1
|
UTSW |
10 |
111,330,655 (GRCm39) |
critical splice acceptor site |
probably null |
|
R7202:Nap1l1
|
UTSW |
10 |
111,326,964 (GRCm39) |
missense |
probably damaging |
1.00 |
R7789:Nap1l1
|
UTSW |
10 |
111,326,317 (GRCm39) |
missense |
probably benign |
0.01 |
R7950:Nap1l1
|
UTSW |
10 |
111,328,769 (GRCm39) |
missense |
probably damaging |
1.00 |
R8404:Nap1l1
|
UTSW |
10 |
111,317,162 (GRCm39) |
start codon destroyed |
probably null |
0.53 |
R8502:Nap1l1
|
UTSW |
10 |
111,317,162 (GRCm39) |
start codon destroyed |
probably null |
0.53 |
R8933:Nap1l1
|
UTSW |
10 |
111,328,710 (GRCm39) |
missense |
probably benign |
0.04 |
R9680:Nap1l1
|
UTSW |
10 |
111,330,657 (GRCm39) |
missense |
probably damaging |
0.99 |
R9772:Nap1l1
|
UTSW |
10 |
111,325,911 (GRCm39) |
nonsense |
probably null |
|
|
Predicted Primers |
PCR Primer
(F):5'- TCCTCTGGGTCTGACTATCATG -3'
(R):5'- TAGTAACTCAACTTACCAGATCGCC -3'
Sequencing Primer
(F):5'- GTCTGACTATCATGTACATTTACGGG -3'
(R):5'- TACCAGATCGCCATTCTCAGG -3'
|
Posted On |
2014-11-11 |