Incidental Mutation 'IGL01843:Nap1l1'
| ID |
178096 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| 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 # |
IGL01843
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
10 |
| Chromosomal Location |
111309084-111334011 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 111328772 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Glycine
at position 234
(R234G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000151700
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000065917]
[ENSMUST00000171797]
[ENSMUST00000217908]
[ENSMUST00000218828]
[ENSMUST00000219143]
[ENSMUST00000219961]
|
| AlphaFold |
P28656 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000065917
AA Change: R234G
PolyPhen 2
Score 0.580 (Sensitivity: 0.88; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000070068
Gene: ENSMUSG00000058799
AA Change: R234G
| Domain | Start | End | E-Value | Type |
|---|
|
coiled coil region
|
6 |
31 |
N/A |
INTRINSIC |
|
Pfam:NAP
|
75 |
346 |
1.5e-96 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000171797
AA Change: R261G
PolyPhen 2
Score 0.305 (Sensitivity: 0.90; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000126850
Gene: ENSMUSG00000058799
AA Change: R261G
| 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 |
possibly damaging
Transcript: ENSMUST00000217908
AA Change: R234G
PolyPhen 2
Score 0.580 (Sensitivity: 0.88; Specificity: 0.91)
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000218828
AA Change: R234G
PolyPhen 2
Score 0.580 (Sensitivity: 0.88; Specificity: 0.91)
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000218982
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000219143
AA Change: R234G
PolyPhen 2
Score 0.418 (Sensitivity: 0.89; Specificity: 0.90)
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000219718
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000219961
AA Change: R234G
PolyPhen 2
Score 0.934 (Sensitivity: 0.80; Specificity: 0.94)
|
| Coding Region Coverage |
|
| 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: 52 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| A2ml1 |
C |
T |
6: 128,530,301 (GRCm39) |
|
probably benign |
Het |
| Ap1b1 |
T |
C |
11: 4,989,169 (GRCm39) |
L782P |
probably damaging |
Het |
| Arid1a |
T |
C |
4: 133,408,765 (GRCm39) |
D1914G |
unknown |
Het |
| C8a |
G |
A |
4: 104,719,808 (GRCm39) |
Q57* |
probably null |
Het |
| Cachd1 |
T |
C |
4: 100,850,069 (GRCm39) |
S1144P |
probably damaging |
Het |
| Cdh23 |
A |
T |
10: 60,255,598 (GRCm39) |
|
probably null |
Het |
| Cenpe |
A |
G |
3: 134,924,268 (GRCm39) |
Q198R |
possibly damaging |
Het |
| Cpne8 |
T |
C |
15: 90,453,700 (GRCm39) |
I228V |
probably benign |
Het |
| Cr2 |
A |
T |
1: 194,833,222 (GRCm39) |
|
probably benign |
Het |
| Csmd3 |
T |
C |
15: 47,522,395 (GRCm39) |
|
probably benign |
Het |
| Cyp2c23 |
A |
G |
19: 43,994,046 (GRCm39) |
V440A |
probably benign |
Het |
| Dag1 |
T |
C |
9: 108,085,281 (GRCm39) |
D620G |
possibly damaging |
Het |
| Dmxl1 |
T |
A |
18: 50,011,449 (GRCm39) |
L1202* |
probably null |
Het |
| Dnah3 |
T |
G |
7: 119,542,798 (GRCm39) |
H3538P |
probably benign |
Het |
| Dock8 |
A |
T |
19: 25,067,292 (GRCm39) |
Q312L |
probably benign |
Het |
| E2f7 |
T |
G |
10: 110,610,596 (GRCm39) |
V407G |
probably benign |
Het |
| F13b |
T |
C |
1: 139,444,165 (GRCm39) |
S500P |
probably damaging |
Het |
| F5 |
A |
G |
1: 164,039,395 (GRCm39) |
I2002V |
probably benign |
Het |
| Flywch1 |
T |
A |
17: 23,979,319 (GRCm39) |
M439L |
possibly damaging |
Het |
| Gcn1 |
C |
A |
5: 115,757,759 (GRCm39) |
A2488E |
probably damaging |
Het |
| Gria1 |
T |
C |
11: 57,208,600 (GRCm39) |
S832P |
probably damaging |
Het |
| Hnrnpr |
T |
C |
4: 136,066,724 (GRCm39) |
|
probably benign |
Het |
| Hps3 |
A |
G |
3: 20,083,165 (GRCm39) |
I177T |
probably benign |
Het |
| Irgm2 |
G |
A |
11: 58,111,167 (GRCm39) |
G298D |
probably benign |
Het |
| Kcnk7 |
G |
A |
19: 5,756,230 (GRCm39) |
G152D |
probably damaging |
Het |
| Man2a2 |
T |
C |
7: 80,012,654 (GRCm39) |
T620A |
probably benign |
Het |
| Mapk12 |
A |
G |
15: 89,021,669 (GRCm39) |
|
probably benign |
Het |
| Mapk6 |
T |
C |
9: 75,297,572 (GRCm39) |
Y315C |
probably damaging |
Het |
| Mdga2 |
T |
A |
12: 66,769,905 (GRCm39) |
|
probably null |
Het |
| Met |
T |
A |
6: 17,491,700 (GRCm39) |
I154N |
probably damaging |
Het |
| Mtrex |
T |
C |
13: 113,055,095 (GRCm39) |
|
probably benign |
Het |
| Olfm5 |
C |
A |
7: 103,809,951 (GRCm39) |
V137F |
possibly damaging |
Het |
| Or4d11 |
G |
T |
19: 12,014,041 (GRCm39) |
H22N |
probably benign |
Het |
| Pcdha11 |
C |
T |
18: 37,145,886 (GRCm39) |
T659I |
probably benign |
Het |
| Pfkm |
T |
C |
15: 98,027,187 (GRCm39) |
V620A |
possibly damaging |
Het |
| Rbak |
A |
G |
5: 143,162,355 (GRCm39) |
|
probably benign |
Het |
| Rbl2 |
A |
G |
8: 91,816,844 (GRCm39) |
I401M |
probably benign |
Het |
| Rragc |
T |
C |
4: 123,814,852 (GRCm39) |
S183P |
probably damaging |
Het |
| Septin3 |
A |
G |
15: 82,163,814 (GRCm39) |
|
probably benign |
Het |
| Slc22a6 |
A |
T |
19: 8,603,578 (GRCm39) |
|
probably benign |
Het |
| Spag4 |
A |
T |
2: 155,910,417 (GRCm39) |
T348S |
probably benign |
Het |
| Sptbn1 |
T |
C |
11: 30,054,623 (GRCm39) |
R2157G |
probably benign |
Het |
| Tmem168 |
G |
A |
6: 13,582,940 (GRCm39) |
T263M |
probably damaging |
Het |
| Tnik |
T |
A |
3: 28,625,007 (GRCm39) |
|
probably null |
Het |
| Tnpo2 |
T |
A |
8: 85,777,137 (GRCm39) |
V549E |
probably damaging |
Het |
| Ttll7 |
A |
C |
3: 146,645,776 (GRCm39) |
K545Q |
possibly damaging |
Het |
| Tubgcp5 |
T |
G |
7: 55,449,221 (GRCm39) |
D139E |
probably benign |
Het |
| Vmn1r233 |
T |
A |
17: 21,214,861 (GRCm39) |
N30Y |
probably damaging |
Het |
| Vmn2r25 |
T |
G |
6: 123,829,962 (GRCm39) |
D63A |
possibly damaging |
Het |
| Vmn2r79 |
T |
A |
7: 86,686,485 (GRCm39) |
L622Q |
probably damaging |
Het |
| Vmn2r84 |
T |
C |
10: 130,222,148 (GRCm39) |
M691V |
probably benign |
Het |
| Zc3hc1 |
A |
T |
6: 30,372,729 (GRCm39) |
|
probably benign |
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 |
|
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 |
|
R2383:Nap1l1
|
UTSW |
10 |
111,329,272 (GRCm39) |
missense |
probably damaging |
1.00 |
|
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 |
|
|
| Posted On |
2014-05-07 |
Incidental Mutation