Incidental Mutation 'R3734:Nap1l4'
| ID |
270003 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Nap1l4
|
| Ensembl Gene |
ENSMUSG00000059119 |
| Gene Name |
nucleosome assembly protein 1-like 4 |
| Synonyms |
2810410H14Rik, Nap2, D7Wsu30e |
| MMRRC Submission |
040721-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.145)
|
| Stock # |
R3734 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
7 |
| Chromosomal Location |
143067316-143102843 bp(-) (GRCm39) |
| Type of Mutation |
unclassified |
| DNA Base Change (assembly) |
A to C
at 143088132 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000147062
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000072727]
[ENSMUST00000207870]
[ENSMUST00000207948]
[ENSMUST00000208093]
[ENSMUST00000208190]
[ENSMUST00000209098]
|
| AlphaFold |
Q78ZA7 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000072727
AA Change: V142G
PolyPhen 2
Score 0.084 (Sensitivity: 0.93; Specificity: 0.85)
|
| SMART Domains |
Protein: ENSMUSP00000072510
Gene: ENSMUSG00000059119
AA Change: V142G
| 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 benign
Transcript: ENSMUST00000207870
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000207948
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000208093
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000208190
AA Change: V142G
PolyPhen 2
Score 0.084 (Sensitivity: 0.93; Specificity: 0.85)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000209098
AA Change: V142G
PolyPhen 2
Score 0.084 (Sensitivity: 0.93; Specificity: 0.85)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000208317
|
| Meta Mutation Damage Score |
0.1381 |
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.5%
- 10x: 96.9%
- 20x: 93.9%
|
| Validation Efficiency |
95% (41/43) |
| 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: 40 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2700049A03Rik |
G |
T |
12: 71,211,320 (GRCm39) |
E685* |
probably null |
Het |
| 2700049A03Rik |
A |
T |
12: 71,211,321 (GRCm39) |
E685V |
possibly damaging |
Het |
| Ablim1 |
A |
T |
19: 57,037,892 (GRCm39) |
|
probably null |
Het |
| Blvra |
A |
T |
2: 126,932,175 (GRCm39) |
|
probably benign |
Het |
| Ccdc87 |
G |
T |
19: 4,891,951 (GRCm39) |
W814C |
probably damaging |
Het |
| Cyp2a4 |
A |
G |
7: 26,012,252 (GRCm39) |
D345G |
probably damaging |
Het |
| Dsg2 |
T |
C |
18: 20,735,004 (GRCm39) |
V994A |
probably benign |
Het |
| Edem1 |
T |
C |
6: 108,818,582 (GRCm39) |
F197L |
probably damaging |
Het |
| Eps8l2 |
A |
C |
7: 140,937,734 (GRCm39) |
Y418S |
probably damaging |
Het |
| Ergic2 |
T |
C |
6: 148,104,020 (GRCm39) |
D79G |
probably damaging |
Het |
| Fcgr3 |
T |
C |
1: 170,885,443 (GRCm39) |
M60V |
probably benign |
Het |
| Gldn |
A |
G |
9: 54,245,946 (GRCm39) |
K499R |
possibly damaging |
Het |
| Golga1 |
G |
T |
2: 38,940,182 (GRCm39) |
Q141K |
possibly damaging |
Het |
| Ift122 |
A |
G |
6: 115,902,462 (GRCm39) |
|
probably benign |
Het |
| Iqcg |
G |
T |
16: 32,873,996 (GRCm39) |
|
probably benign |
Het |
| Itga1 |
T |
C |
13: 115,114,175 (GRCm39) |
H910R |
probably benign |
Het |
| Jak3 |
C |
A |
8: 72,129,225 (GRCm39) |
|
probably benign |
Het |
| Jrkl |
A |
G |
9: 13,245,535 (GRCm39) |
V42A |
possibly damaging |
Het |
| Kif2c |
T |
C |
4: 117,019,843 (GRCm39) |
S515G |
probably benign |
Het |
| Lag3 |
A |
T |
6: 124,887,103 (GRCm39) |
S155T |
probably benign |
Het |
| Lsamp |
T |
C |
16: 41,965,133 (GRCm39) |
I330T |
probably benign |
Het |
| Map3k6 |
T |
C |
4: 132,975,707 (GRCm39) |
S732P |
possibly damaging |
Het |
| Muc5b |
C |
T |
7: 141,412,774 (GRCm39) |
Q1907* |
probably null |
Het |
| Nipal3 |
T |
C |
4: 135,191,157 (GRCm39) |
T325A |
probably damaging |
Het |
| Nol4 |
A |
T |
18: 22,903,921 (GRCm39) |
|
probably benign |
Het |
| Or2l13b |
T |
A |
16: 19,349,398 (GRCm39) |
I91F |
probably damaging |
Het |
| Otog |
A |
G |
7: 45,937,792 (GRCm39) |
T1834A |
probably benign |
Het |
| Panx1 |
GTTCTTCT |
GTTCT |
9: 14,917,467 (GRCm39) |
|
probably benign |
Het |
| Pbld2 |
T |
C |
10: 62,907,244 (GRCm39) |
L161P |
probably damaging |
Het |
| Pcdha6 |
T |
A |
18: 37,102,454 (GRCm39) |
V549E |
probably damaging |
Het |
| Robo2 |
A |
C |
16: 73,717,635 (GRCm39) |
L1159W |
possibly damaging |
Het |
| Scmh1 |
T |
A |
4: 120,335,277 (GRCm39) |
I154N |
probably damaging |
Het |
| Skor1 |
A |
T |
9: 63,047,350 (GRCm39) |
L879Q |
probably damaging |
Het |
| Slc1a7 |
G |
C |
4: 107,834,841 (GRCm39) |
R69P |
probably damaging |
Het |
| Stk4 |
T |
A |
2: 163,930,828 (GRCm39) |
M143K |
probably benign |
Het |
| Tenm1 |
C |
T |
X: 41,772,944 (GRCm39) |
V1023M |
probably benign |
Het |
| Tpte |
G |
A |
8: 22,849,498 (GRCm39) |
C575Y |
probably damaging |
Het |
| Ulk4 |
T |
C |
9: 121,091,055 (GRCm39) |
K216E |
probably benign |
Het |
| Unc5d |
T |
C |
8: 29,251,826 (GRCm39) |
I216V |
probably benign |
Het |
| Vmn2r16 |
T |
C |
5: 109,478,280 (GRCm39) |
S12P |
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 |
|
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 |
|
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 |
|
|
| Predicted Primers |
PCR Primer
(F):5'- TACAAGAATCGGGCATCACC -3'
(R):5'- GCAGAACTTGGTTGAAGCTGTG -3'
Sequencing Primer
(F):5'- GGCATCACCCCAGTCTCC -3'
(R):5'- TGTTCCTAATGATCCAAGAAAAGCC -3'
|
| Posted On |
2015-03-18 |
Incidental Mutation