Incidental Mutation 'R6522:Nap1l1'
| ID |
521392 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Nap1l1
|
| Ensembl Gene |
ENSMUSG00000058799 |
| Gene Name |
nucleosome assembly protein 1-like 1 |
| Synonyms |
D10Ertd68e |
| MMRRC Submission |
044648-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.333)
|
| Stock # |
R6522 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
10 |
| Chromosomal Location |
111309084-111334011 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 111330084 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Serine
at position 330
(L330S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000151972
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000065917]
[ENSMUST00000171797]
[ENSMUST00000217908]
[ENSMUST00000218828]
[ENSMUST00000219143]
[ENSMUST00000219961]
|
| AlphaFold |
P28656 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000065917
AA Change: L330S
PolyPhen 2
Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000070068
Gene: ENSMUSG00000058799
AA Change: L330S
| 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: L357S
PolyPhen 2
Score 0.984 (Sensitivity: 0.74; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000126850
Gene: ENSMUSG00000058799
AA Change: L357S
| 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 |
probably damaging
Transcript: ENSMUST00000217908
AA Change: L330S
PolyPhen 2
Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000218828
AA Change: L330S
PolyPhen 2
Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000218982
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000219143
AA Change: L330S
PolyPhen 2
Score 0.895 (Sensitivity: 0.82; Specificity: 0.94)
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000219718
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000219961
AA Change: L330S
PolyPhen 2
Score 0.990 (Sensitivity: 0.72; Specificity: 0.97)
|
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 97.8%
- 20x: 93.3%
|
| Validation Efficiency |
100% (56/56) |
| 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: 57 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adgb |
C |
A |
10: 10,253,636 (GRCm39) |
E1209* |
probably null |
Het |
| Adgrg5 |
G |
T |
8: 95,668,696 (GRCm39) |
R503L |
probably benign |
Het |
| Anks1b |
C |
T |
10: 90,733,189 (GRCm39) |
|
probably benign |
Het |
| Anxa5 |
A |
T |
3: 36,519,451 (GRCm39) |
F13I |
probably damaging |
Het |
| Bicd1 |
A |
G |
6: 149,385,503 (GRCm39) |
I79V |
probably benign |
Het |
| Bnip1 |
A |
G |
17: 27,008,719 (GRCm39) |
D107G |
probably damaging |
Het |
| Ccdc42 |
A |
G |
11: 68,479,046 (GRCm39) |
E78G |
probably damaging |
Het |
| Ccnk |
A |
G |
12: 108,153,446 (GRCm39) |
D69G |
probably damaging |
Het |
| Clec2i |
G |
T |
6: 128,870,692 (GRCm39) |
V77F |
probably damaging |
Het |
| Clec4g |
A |
C |
8: 3,768,803 (GRCm39) |
V62G |
probably benign |
Het |
| Col4a4 |
G |
A |
1: 82,465,304 (GRCm39) |
A957V |
unknown |
Het |
| Csnk1d |
A |
G |
11: 120,862,449 (GRCm39) |
F277L |
probably damaging |
Het |
| Dip2c |
G |
A |
13: 9,625,264 (GRCm39) |
|
probably null |
Het |
| Dpf2 |
T |
A |
19: 5,955,560 (GRCm39) |
K108* |
probably null |
Het |
| Dync1h1 |
G |
A |
12: 110,583,171 (GRCm39) |
D423N |
probably damaging |
Het |
| Fbxl13 |
T |
C |
5: 21,766,554 (GRCm39) |
|
probably null |
Homo |
| Flad1 |
T |
C |
3: 89,310,490 (GRCm39) |
R488G |
probably damaging |
Het |
| Galnt6 |
A |
C |
15: 100,591,236 (GRCm39) |
*623E |
probably null |
Het |
| Gtf2e1 |
T |
C |
16: 37,331,816 (GRCm39) |
T420A |
possibly damaging |
Het |
| Hspg2 |
T |
C |
4: 137,282,586 (GRCm39) |
V3442A |
probably damaging |
Het |
| Itpr1 |
A |
G |
6: 108,365,237 (GRCm39) |
D55G |
probably damaging |
Het |
| Kdm2a |
C |
A |
19: 4,374,854 (GRCm39) |
R759L |
possibly damaging |
Het |
| Kif19a |
A |
G |
11: 114,676,605 (GRCm39) |
E478G |
probably damaging |
Het |
| Lamb3 |
G |
A |
1: 193,017,761 (GRCm39) |
V881I |
probably benign |
Het |
| Map3k6 |
T |
C |
4: 132,977,335 (GRCm39) |
L894P |
possibly damaging |
Het |
| Mast4 |
A |
G |
13: 102,897,801 (GRCm39) |
|
probably null |
Het |
| Mst1r |
G |
A |
9: 107,790,438 (GRCm39) |
V684M |
probably benign |
Het |
| Naa15 |
T |
C |
3: 51,378,935 (GRCm39) |
S727P |
probably damaging |
Het |
| Nav2 |
A |
G |
7: 49,247,281 (GRCm39) |
T2205A |
probably damaging |
Het |
| Ncf2 |
T |
C |
1: 152,703,214 (GRCm39) |
|
probably null |
Het |
| Opa1 |
T |
A |
16: 29,444,332 (GRCm39) |
N839K |
probably benign |
Het |
| Or4c104 |
T |
C |
2: 88,586,452 (GRCm39) |
D189G |
probably damaging |
Het |
| Or52a33 |
T |
C |
7: 103,288,504 (GRCm39) |
Y281C |
probably damaging |
Het |
| Or52n4b |
G |
A |
7: 108,144,202 (GRCm39) |
V155I |
probably benign |
Het |
| Pcdha7 |
T |
C |
18: 37,106,995 (GRCm39) |
Y7H |
possibly damaging |
Het |
| Pcdhb15 |
T |
C |
18: 37,607,314 (GRCm39) |
V182A |
probably benign |
Het |
| Phf10 |
A |
T |
17: 15,176,269 (GRCm39) |
I128N |
probably damaging |
Het |
| Plce1 |
T |
A |
19: 38,736,965 (GRCm39) |
|
probably null |
Het |
| Plxnb2 |
T |
C |
15: 89,048,629 (GRCm39) |
N626S |
probably benign |
Het |
| Prh1 |
G |
A |
6: 132,548,996 (GRCm39) |
G168R |
unknown |
Het |
| Prss51 |
A |
G |
14: 64,334,855 (GRCm39) |
T137A |
possibly damaging |
Het |
| Ptprcap |
C |
T |
19: 4,206,183 (GRCm39) |
R89C |
possibly damaging |
Het |
| Scfd1 |
A |
G |
12: 51,478,324 (GRCm39) |
K512R |
probably benign |
Het |
| Serpina1b |
A |
C |
12: 103,701,296 (GRCm39) |
|
probably null |
Het |
| Setbp1 |
T |
C |
18: 78,900,605 (GRCm39) |
T1021A |
probably damaging |
Het |
| Slco1b2 |
G |
A |
6: 141,601,145 (GRCm39) |
|
probably null |
Het |
| Snrnp200 |
C |
T |
2: 127,063,747 (GRCm39) |
T642I |
probably benign |
Het |
| Tenm4 |
A |
C |
7: 96,492,251 (GRCm39) |
I1063L |
possibly damaging |
Het |
| Tfb2m |
G |
A |
1: 179,373,611 (GRCm39) |
A29V |
probably benign |
Het |
| Tfeb |
T |
C |
17: 48,100,627 (GRCm39) |
V140A |
probably damaging |
Het |
| Tmem104 |
A |
T |
11: 115,134,579 (GRCm39) |
I372F |
probably damaging |
Het |
| Tmem132d |
G |
T |
5: 127,860,832 (GRCm39) |
H1096Q |
probably benign |
Het |
| Trim12c |
A |
T |
7: 103,997,531 (GRCm39) |
N8K |
probably benign |
Het |
| Tti2 |
A |
G |
8: 31,643,631 (GRCm39) |
I249V |
probably null |
Het |
| Vps8 |
T |
A |
16: 21,261,129 (GRCm39) |
L90I |
probably damaging |
Het |
| Vwf |
A |
T |
6: 125,639,926 (GRCm39) |
|
probably null |
Het |
| Wdfy4 |
A |
G |
14: 32,868,901 (GRCm39) |
S376P |
probably damaging |
Het |
|
| Other mutations in Nap1l1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01154:Nap1l1
|
APN |
10 |
111,322,536 (GRCm39) |
missense |
probably damaging |
0.98 |
|
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 |
|
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 |
|
|
| Predicted Primers |
PCR Primer
(F):5'- ACCAGTCCTAACTTCTATGTACTGC -3'
(R):5'- ATGAGCCCTGTATGTCCTACTAC -3'
Sequencing Primer
(F):5'- CTCGGTGTATATGCTGGCC -3'
(R):5'- TGTATGTCCTACTACAGCCAACCTAG -3'
|
| Posted On |
2018-06-06 |
Incidental Mutation