Incidental Mutation 'IGL03059:Nap1l4'
ID |
409390 |
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: 0.151)
|
Stock # |
IGL03059
|
Quality Score |
|
Status
|
|
Chromosome |
7 |
Chromosomal Location |
143067316-143102843 bp(-) (GRCm39) |
Type of Mutation |
critical splice donor site (1 bp from exon) |
DNA Base Change (assembly) |
C to T
at 143080902 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: 37 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Ahsg |
T |
C |
16: 22,717,755 (GRCm39) |
V244A |
possibly damaging |
Het |
Aoc1l3 |
A |
T |
6: 48,964,349 (GRCm39) |
Y119F |
probably benign |
Het |
Ccdc187 |
C |
A |
2: 26,184,253 (GRCm39) |
R48M |
probably null |
Het |
Cnga2 |
G |
A |
X: 71,051,878 (GRCm39) |
R251H |
probably damaging |
Het |
Cop1 |
A |
C |
1: 159,134,279 (GRCm39) |
K174Q |
probably damaging |
Het |
Cul9 |
T |
C |
17: 46,849,913 (GRCm39) |
D512G |
probably damaging |
Het |
Flt4 |
G |
A |
11: 49,533,134 (GRCm39) |
A1140T |
probably damaging |
Het |
Galnt3 |
C |
T |
2: 65,923,954 (GRCm39) |
R438H |
probably damaging |
Het |
Gatm |
G |
A |
2: 122,440,181 (GRCm39) |
A86V |
probably damaging |
Het |
Klhl28 |
C |
T |
12: 64,998,340 (GRCm39) |
A385T |
probably benign |
Het |
Klhl40 |
T |
A |
9: 121,607,203 (GRCm39) |
V121E |
probably damaging |
Het |
L1cam |
T |
A |
X: 72,910,630 (GRCm39) |
H30L |
probably benign |
Het |
Lss |
A |
T |
10: 76,367,860 (GRCm39) |
|
probably benign |
Het |
Mrnip |
A |
T |
11: 50,090,596 (GRCm39) |
Q253H |
probably damaging |
Het |
Mroh9 |
A |
T |
1: 162,852,205 (GRCm39) |
F828Y |
possibly damaging |
Het |
Mst1 |
T |
C |
9: 107,962,012 (GRCm39) |
C668R |
probably damaging |
Het |
Nadk |
A |
G |
4: 155,671,253 (GRCm39) |
E143G |
probably benign |
Het |
Nme8 |
A |
G |
13: 19,836,414 (GRCm39) |
I254T |
possibly damaging |
Het |
Or14c41 |
A |
G |
7: 86,234,779 (GRCm39) |
I99V |
probably benign |
Het |
Or1ab2 |
T |
A |
8: 72,863,842 (GRCm39) |
L144Q |
probably damaging |
Het |
Or2y12 |
A |
G |
11: 49,426,021 (GRCm39) |
Y3C |
probably benign |
Het |
Pkd1l2 |
G |
A |
8: 117,792,484 (GRCm39) |
T436I |
probably benign |
Het |
Pkd1l3 |
C |
T |
8: 110,374,999 (GRCm39) |
L1491F |
probably damaging |
Het |
Plec |
G |
T |
15: 76,059,968 (GRCm39) |
T3488N |
probably damaging |
Het |
Plk2 |
T |
G |
13: 110,535,668 (GRCm39) |
S497A |
probably benign |
Het |
Polr1a |
G |
A |
6: 71,913,496 (GRCm39) |
V617I |
probably benign |
Het |
Prelid3a |
C |
A |
18: 67,609,909 (GRCm39) |
Y112* |
probably null |
Het |
Rnf113a2 |
C |
A |
12: 84,464,250 (GRCm39) |
S47R |
possibly damaging |
Het |
Rtel1 |
A |
G |
2: 180,991,976 (GRCm39) |
N410D |
probably benign |
Het |
Ryr3 |
C |
T |
2: 112,630,392 (GRCm39) |
A2140T |
probably damaging |
Het |
Slc22a29 |
A |
G |
19: 8,147,354 (GRCm39) |
L336P |
probably benign |
Het |
Sphkap |
T |
A |
1: 83,234,963 (GRCm39) |
Q1621L |
probably damaging |
Het |
Trgc1 |
A |
T |
13: 19,400,072 (GRCm39) |
K123* |
probably null |
Het |
Ttn |
T |
A |
2: 76,739,863 (GRCm39) |
S3559C |
probably benign |
Het |
Ubr4 |
C |
T |
4: 139,207,987 (GRCm39) |
R4923W |
probably damaging |
Het |
Vac14 |
T |
C |
8: 111,437,084 (GRCm39) |
L599P |
probably damaging |
Het |
Wdr5 |
T |
C |
2: 27,409,746 (GRCm39) |
|
probably benign |
Het |
|
Other mutations in Nap1l4 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01483:Nap1l4
|
APN |
7 |
143,081,053 (GRCm39) |
splice site |
probably null |
|
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 |
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 |
2016-08-02 |