Incidental Mutation 'IGL02710:Nap1l4'
ID |
304537 |
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 # |
IGL02710
|
Quality Score |
|
Status
|
|
Chromosome |
7 |
Chromosomal Location |
143067316-143102843 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
G to A
at 143077998 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Threonine to Isoleucine
at position 312
(T312I)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000072510
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000072727]
[ENSMUST00000207948]
[ENSMUST00000208190]
[ENSMUST00000209098]
|
AlphaFold |
Q78ZA7 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000072727
AA Change: T312I
PolyPhen 2
Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)
|
SMART Domains |
Protein: ENSMUSP00000072510 Gene: ENSMUSG00000059119 AA Change: T312I
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: ENSMUST00000207244
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000207948
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000208190
AA Change: T312I
PolyPhen 2
Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000208282
|
Predicted Effect |
unknown
Transcript: ENSMUST00000208317
AA Change: T193I
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000209098
AA Change: T312I
PolyPhen 2
Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
|
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: 31 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Aox1 |
T |
G |
1: 58,373,928 (GRCm39) |
|
probably null |
Het |
Col18a1 |
G |
A |
10: 76,949,146 (GRCm39) |
A122V |
possibly damaging |
Het |
Dnai3 |
A |
T |
3: 145,753,903 (GRCm39) |
I719N |
possibly damaging |
Het |
Dtnb |
T |
A |
12: 3,698,380 (GRCm39) |
H289Q |
possibly damaging |
Het |
Fat4 |
A |
T |
3: 38,944,744 (GRCm39) |
K1212N |
probably damaging |
Het |
Gm10392 |
T |
C |
11: 77,409,294 (GRCm39) |
H44R |
possibly damaging |
Het |
Herc2 |
G |
A |
7: 55,787,562 (GRCm39) |
A1740T |
possibly damaging |
Het |
Ifna1 |
A |
G |
4: 88,768,523 (GRCm39) |
D67G |
probably benign |
Het |
Knl1 |
A |
C |
2: 118,901,411 (GRCm39) |
E1037D |
probably damaging |
Het |
Lsg1 |
A |
T |
16: 30,390,292 (GRCm39) |
D274E |
probably benign |
Het |
Msantd3 |
A |
G |
4: 48,552,686 (GRCm39) |
K92E |
probably damaging |
Het |
Nlrp3 |
A |
G |
11: 59,456,802 (GRCm39) |
E988G |
probably damaging |
Het |
Or11g2 |
C |
T |
14: 50,856,255 (GRCm39) |
T192I |
probably benign |
Het |
Palm3 |
C |
T |
8: 84,754,941 (GRCm39) |
T151I |
possibly damaging |
Het |
Pde1b |
T |
C |
15: 103,430,484 (GRCm39) |
W144R |
probably damaging |
Het |
Piezo2 |
A |
G |
18: 63,207,730 (GRCm39) |
L1427P |
probably damaging |
Het |
Rasal1 |
A |
T |
5: 120,804,496 (GRCm39) |
H456L |
possibly damaging |
Het |
Sec16a |
C |
T |
2: 26,320,142 (GRCm39) |
G1432D |
possibly damaging |
Het |
Shc1 |
A |
G |
3: 89,331,917 (GRCm39) |
|
probably null |
Het |
Skint5 |
T |
A |
4: 113,335,156 (GRCm39) |
I1452F |
unknown |
Het |
Slc35b4 |
C |
A |
6: 34,135,476 (GRCm39) |
V279L |
probably benign |
Het |
Snx9 |
T |
C |
17: 5,958,873 (GRCm39) |
V283A |
probably damaging |
Het |
Stra6l |
T |
C |
4: 45,882,728 (GRCm39) |
F480L |
possibly damaging |
Het |
Stt3a |
A |
G |
9: 36,670,041 (GRCm39) |
Y132H |
probably damaging |
Het |
Sv2c |
T |
A |
13: 96,125,649 (GRCm39) |
I363F |
probably damaging |
Het |
Tnfrsf21 |
C |
T |
17: 43,398,820 (GRCm39) |
T642I |
probably damaging |
Het |
Tubgcp2 |
G |
A |
7: 139,584,897 (GRCm39) |
|
probably benign |
Het |
Usp47 |
A |
G |
7: 111,692,132 (GRCm39) |
N845D |
probably benign |
Het |
Wdr20 |
A |
T |
12: 110,759,544 (GRCm39) |
|
probably benign |
Het |
Zfp518b |
A |
G |
5: 38,830,061 (GRCm39) |
V648A |
probably damaging |
Het |
Zfp687 |
A |
T |
3: 94,916,084 (GRCm39) |
S927T |
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 |
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 |
2015-04-16 |