Incidental Mutation 'IGL01154:Nap1l1'
| ID |
52175 |
| 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 # |
IGL01154
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
10 |
| Chromosomal Location |
111309084-111334011 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 111322536 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Asparagine to Lysine
at position 72
(N72K)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000126850
(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: N45K
PolyPhen 2
Score 0.650 (Sensitivity: 0.87; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000070068
Gene: ENSMUSG00000058799
AA Change: N45K
| 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 damaging
Transcript: ENSMUST00000171797
AA Change: N72K
PolyPhen 2
Score 0.980 (Sensitivity: 0.75; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000126850
Gene: ENSMUSG00000058799
AA Change: N72K
| 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: N45K
PolyPhen 2
Score 0.650 (Sensitivity: 0.87; Specificity: 0.91)
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000218828
AA Change: N45K
PolyPhen 2
Score 0.650 (Sensitivity: 0.87; Specificity: 0.91)
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000218982
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000219143
AA Change: N45K
PolyPhen 2
Score 0.937 (Sensitivity: 0.80; Specificity: 0.94)
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000219961
AA Change: N45K
PolyPhen 2
Score 0.941 (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: 54 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1110038F14Rik |
G |
A |
15: 76,834,475 (GRCm39) |
V124I |
probably damaging |
Het |
| 2210408I21Rik |
T |
G |
13: 77,429,213 (GRCm39) |
F767V |
probably benign |
Het |
| A2m |
C |
A |
6: 121,650,501 (GRCm39) |
S1203* |
probably null |
Het |
| Abcc3 |
T |
C |
11: 94,250,058 (GRCm39) |
|
probably benign |
Het |
| Adamts13 |
T |
C |
2: 26,896,206 (GRCm39) |
Y1200H |
probably benign |
Het |
| Aldh1l2 |
T |
C |
10: 83,356,237 (GRCm39) |
D51G |
probably damaging |
Het |
| Apc2 |
A |
G |
10: 80,148,903 (GRCm39) |
E1319G |
possibly damaging |
Het |
| Arap3 |
A |
T |
18: 38,129,787 (GRCm39) |
S125T |
probably benign |
Het |
| Atp2b1 |
T |
A |
10: 98,832,750 (GRCm39) |
V417E |
probably damaging |
Het |
| Bpifa1 |
T |
A |
2: 153,985,920 (GRCm39) |
D78E |
probably benign |
Het |
| Catsperb |
C |
A |
12: 101,591,940 (GRCm39) |
A1090E |
possibly damaging |
Het |
| Ceacam9 |
C |
A |
7: 16,457,886 (GRCm39) |
T138K |
probably damaging |
Het |
| Cenpf |
T |
A |
1: 189,412,530 (GRCm39) |
E244D |
probably benign |
Het |
| Cep135 |
A |
T |
5: 76,754,643 (GRCm39) |
|
probably benign |
Het |
| Cfap206 |
C |
T |
4: 34,721,562 (GRCm39) |
S162N |
probably damaging |
Het |
| Col15a1 |
A |
C |
4: 47,208,450 (GRCm39) |
T6P |
possibly damaging |
Het |
| Cyp11b1 |
T |
A |
15: 74,710,383 (GRCm39) |
Q306L |
probably benign |
Het |
| Defa22 |
T |
A |
8: 21,653,053 (GRCm39) |
|
probably null |
Het |
| Dnah5 |
A |
T |
15: 28,458,802 (GRCm39) |
T4480S |
possibly damaging |
Het |
| Fastkd1 |
T |
C |
2: 69,520,404 (GRCm39) |
|
probably null |
Het |
| Flt1 |
A |
G |
5: 147,512,966 (GRCm39) |
Y1124H |
possibly damaging |
Het |
| Fsd1l |
A |
G |
4: 53,701,074 (GRCm39) |
M469V |
probably benign |
Het |
| Fxr2 |
T |
C |
11: 69,532,259 (GRCm39) |
|
probably benign |
Het |
| Gm10801 |
A |
T |
2: 98,494,328 (GRCm39) |
Y135F |
probably benign |
Het |
| Grm4 |
A |
T |
17: 27,653,711 (GRCm39) |
C699* |
probably null |
Het |
| Hcn4 |
A |
G |
9: 58,766,362 (GRCm39) |
T677A |
unknown |
Het |
| Igkv9-123 |
G |
T |
6: 67,931,518 (GRCm39) |
|
probably benign |
Het |
| Irf4 |
T |
A |
13: 30,941,404 (GRCm39) |
H253Q |
possibly damaging |
Het |
| Jakmip2 |
T |
C |
18: 43,723,744 (GRCm39) |
|
probably benign |
Het |
| Kmt2c |
A |
G |
5: 25,489,397 (GRCm39) |
V1134A |
probably damaging |
Het |
| Limch1 |
G |
T |
5: 66,903,301 (GRCm39) |
E17* |
probably null |
Het |
| Or4x11 |
T |
C |
2: 89,867,812 (GRCm39) |
L183P |
probably damaging |
Het |
| Or51t4 |
T |
C |
7: 102,598,046 (GRCm39) |
S115P |
probably damaging |
Het |
| Otud6b |
A |
T |
4: 14,811,732 (GRCm39) |
Y304N |
probably damaging |
Het |
| Pdcd10 |
A |
C |
3: 75,448,540 (GRCm39) |
M8R |
probably damaging |
Het |
| Ppip5k1 |
T |
C |
2: 121,173,660 (GRCm39) |
T404A |
probably damaging |
Het |
| Ppp2r2d |
C |
T |
7: 138,483,940 (GRCm39) |
A197V |
probably benign |
Het |
| Psg25 |
C |
T |
7: 18,258,624 (GRCm39) |
D351N |
probably benign |
Het |
| Sbno1 |
A |
T |
5: 124,548,312 (GRCm39) |
I87N |
probably damaging |
Het |
| Stfa2l1 |
C |
T |
16: 35,980,307 (GRCm39) |
|
probably benign |
Het |
| Sugp2 |
T |
A |
8: 70,695,349 (GRCm39) |
D107E |
probably damaging |
Het |
| Syne1 |
G |
T |
10: 5,310,848 (GRCm39) |
F576L |
probably damaging |
Het |
| Syne3 |
A |
G |
12: 104,924,328 (GRCm39) |
F357S |
probably benign |
Het |
| Tenm2 |
A |
G |
11: 35,932,371 (GRCm39) |
L1741P |
probably damaging |
Het |
| Tgs1 |
A |
T |
4: 3,585,473 (GRCm39) |
K117* |
probably null |
Het |
| Tram1 |
C |
T |
1: 13,649,673 (GRCm39) |
|
probably null |
Het |
| Trank1 |
T |
A |
9: 111,215,468 (GRCm39) |
D1799E |
probably benign |
Het |
| Ttc14 |
A |
T |
3: 33,857,248 (GRCm39) |
Y198F |
probably benign |
Het |
| Ube3b |
A |
G |
5: 114,544,313 (GRCm39) |
N570S |
probably null |
Het |
| Ube4b |
A |
G |
4: 149,449,927 (GRCm39) |
F412S |
probably benign |
Het |
| Vac14 |
T |
C |
8: 111,380,239 (GRCm39) |
|
probably benign |
Het |
| Vmn2r65 |
T |
C |
7: 84,592,729 (GRCm39) |
T493A |
probably benign |
Het |
| Zfp408 |
T |
C |
2: 91,478,351 (GRCm39) |
|
probably benign |
Het |
| Zfp580 |
C |
T |
7: 5,056,267 (GRCm39) |
T209I |
possibly damaging |
Het |
|
| Other mutations in Nap1l1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
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 |
|
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 |
2013-06-21 |
Incidental Mutation