Incidental Mutation 'IGL01483:Nap1l4'
| ID |
88706 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Nap1l4
|
| Ensembl Gene |
ENSMUSG00000059119 |
| Gene Name |
nucleosome assembly protein 1-like 4 |
| Synonyms |
2810410H14Rik, Nap2, D7Wsu30e |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.145)
|
| Stock # |
IGL01483
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
7 |
| Chromosomal Location |
143067316-143102843 bp(-) (GRCm39) |
| Type of Mutation |
splice site |
| DNA Base Change (assembly) |
A to T
at 143081053 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000146474
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000072727]
[ENSMUST00000207948]
[ENSMUST00000208190]
[ENSMUST00000209098]
|
| AlphaFold |
Q78ZA7 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000072727
|
| SMART Domains |
Protein: ENSMUSP00000072510
Gene: ENSMUSG00000059119
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:NAP
|
65 |
338 |
5e-103 |
PFAM |
|
low complexity region
|
341 |
370 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000083184
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000207244
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000207948
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000208190
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000208282
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000208317
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000209098
|
| 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 which can interact with both core and linker histones. It can shuttle between the cytoplasm and nucleus, suggesting a role as a histone chaperone. This gene is one of several located near the imprinted gene domain of 11p15.5, an important tumor-suppressor gene region. Alterations in this region have been associated with the Beckwith-Wiedemann syndrome, Wilms tumor, rhabdomyosarcoma, adrenocortical carcinoma, and lung, ovarian, and breast cancer. [provided by RefSeq, Jul 2008]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 34 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1110008E08Rik |
G |
T |
16: 90,351,201 (GRCm39) |
|
noncoding transcript |
Het |
| Abcb4 |
T |
C |
5: 8,977,871 (GRCm39) |
I483T |
probably damaging |
Het |
| Ank3 |
A |
T |
10: 69,710,639 (GRCm39) |
H388L |
probably damaging |
Het |
| Arhgap24 |
T |
C |
5: 103,008,243 (GRCm39) |
Y52H |
possibly damaging |
Het |
| Atf7ip |
A |
G |
6: 136,564,457 (GRCm39) |
N900S |
probably damaging |
Het |
| Bmp10 |
A |
T |
6: 87,410,933 (GRCm39) |
D242V |
probably damaging |
Het |
| Ceacam12 |
A |
G |
7: 17,801,446 (GRCm39) |
R142G |
probably benign |
Het |
| Cilp2 |
T |
A |
8: 70,335,496 (GRCm39) |
I501F |
probably damaging |
Het |
| Cplane1 |
T |
G |
15: 8,216,591 (GRCm39) |
I603S |
probably damaging |
Het |
| Dglucy |
T |
C |
12: 100,819,476 (GRCm39) |
V426A |
probably damaging |
Het |
| Dyrk1b |
A |
G |
7: 27,882,101 (GRCm39) |
D94G |
probably damaging |
Het |
| Efcab3 |
T |
C |
11: 104,630,173 (GRCm39) |
V968A |
probably benign |
Het |
| Erbb2 |
C |
T |
11: 98,325,365 (GRCm39) |
R898C |
probably damaging |
Het |
| Fbxo7 |
T |
C |
10: 85,880,445 (GRCm39) |
Y298H |
probably damaging |
Het |
| Gcg |
T |
C |
2: 62,310,827 (GRCm39) |
D25G |
possibly damaging |
Het |
| Helb |
A |
G |
10: 119,947,043 (GRCm39) |
V90A |
probably damaging |
Het |
| Krt40 |
T |
A |
11: 99,433,553 (GRCm39) |
E144D |
probably damaging |
Het |
| Lpo |
G |
A |
11: 87,711,964 (GRCm39) |
T31I |
probably benign |
Het |
| Mc5r |
A |
G |
18: 68,472,315 (GRCm39) |
I225V |
probably damaging |
Het |
| Mccc1 |
A |
G |
3: 36,044,009 (GRCm39) |
F245L |
probably damaging |
Het |
| Mindy4 |
A |
G |
6: 55,193,670 (GRCm39) |
D121G |
probably damaging |
Het |
| Noc4l |
T |
A |
5: 110,796,824 (GRCm39) |
K486M |
probably damaging |
Het |
| Notum |
T |
C |
11: 120,547,482 (GRCm39) |
D271G |
probably damaging |
Het |
| Pan3 |
T |
A |
5: 147,466,783 (GRCm39) |
L550Q |
probably benign |
Het |
| Pde4dip |
A |
G |
3: 97,661,465 (GRCm39) |
S594P |
probably damaging |
Het |
| Pramel12 |
A |
T |
4: 143,144,047 (GRCm39) |
E131V |
probably damaging |
Het |
| Prr23a1 |
T |
G |
9: 98,725,369 (GRCm39) |
S244A |
probably benign |
Het |
| Rarb |
T |
C |
14: 16,432,273 (GRCm38) |
|
probably benign |
Het |
| Sh3d19 |
A |
G |
3: 86,022,103 (GRCm39) |
D511G |
probably benign |
Het |
| Slco6c1 |
T |
C |
1: 97,055,832 (GRCm39) |
N23S |
probably benign |
Het |
| Smarcc1 |
G |
T |
9: 110,051,128 (GRCm39) |
G983* |
probably null |
Het |
| Tbc1d22a |
A |
T |
15: 86,275,404 (GRCm39) |
Q442L |
probably benign |
Het |
| Tuba1b |
A |
G |
15: 98,830,338 (GRCm39) |
Y161H |
possibly damaging |
Het |
| Zdhhc14 |
G |
A |
17: 5,762,733 (GRCm39) |
M212I |
probably benign |
Het |
|
| Other mutations in Nap1l4 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02696:Nap1l4
|
APN |
7 |
143,077,898 (GRCm39) |
missense |
possibly damaging |
0.67 |
|
IGL02710:Nap1l4
|
APN |
7 |
143,077,998 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL03059:Nap1l4
|
APN |
7 |
143,080,902 (GRCm39) |
critical splice donor site |
probably null |
|
|
IGL03164:Nap1l4
|
APN |
7 |
143,091,953 (GRCm39) |
critical splice donor site |
probably null |
|
|
IGL03240:Nap1l4
|
APN |
7 |
143,091,982 (GRCm39) |
missense |
probably benign |
0.00 |
|
Ballerina
|
UTSW |
7 |
143,088,200 (GRCm39) |
splice site |
probably null |
|
|
R1576:Nap1l4
|
UTSW |
7 |
143,091,953 (GRCm39) |
critical splice donor site |
probably null |
|
|
R1705:Nap1l4
|
UTSW |
7 |
143,095,497 (GRCm39) |
start codon destroyed |
probably null |
1.00 |
|
R1967:Nap1l4
|
UTSW |
7 |
143,088,024 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1989:Nap1l4
|
UTSW |
7 |
143,080,921 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R3734:Nap1l4
|
UTSW |
7 |
143,088,132 (GRCm39) |
unclassified |
probably benign |
|
|
R4799:Nap1l4
|
UTSW |
7 |
143,088,200 (GRCm39) |
splice site |
probably null |
|
|
R5367:Nap1l4
|
UTSW |
7 |
143,088,035 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R9751:Nap1l4
|
UTSW |
7 |
143,088,132 (GRCm39) |
unclassified |
probably benign |
|
|
| Posted On |
2013-11-18 |
Incidental Mutation