Incidental Mutation 'R8502:Nap1l1'
| ID |
655376 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Nap1l1
|
| Ensembl Gene |
ENSMUSG00000058799 |
| Gene Name |
nucleosome assembly protein 1-like 1 |
| Synonyms |
D10Ertd68e |
| MMRRC Submission |
067839-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.337)
|
| Stock # |
R8502 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
10 |
| Chromosomal Location |
111309084-111334011 bp(+) (GRCm39) |
| Type of Mutation |
start codon destroyed |
| DNA Base Change (assembly) |
T to A
at 111317162 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Methionine to Lysine
at position 1
(M1K)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000070068
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000065917]
[ENSMUST00000217908]
[ENSMUST00000218828]
[ENSMUST00000219143]
[ENSMUST00000219961]
|
| AlphaFold |
P28656 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000065917
AA Change: M1K
PolyPhen 2
Score 0.533 (Sensitivity: 0.88; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000070068
Gene: ENSMUSG00000058799
AA Change: M1K
| 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 null
Transcript: ENSMUST00000217908
AA Change: M1K
PolyPhen 2
Score 0.533 (Sensitivity: 0.88; Specificity: 0.90)
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000218828
AA Change: M1K
PolyPhen 2
Score 0.533 (Sensitivity: 0.88; Specificity: 0.90)
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000219143
AA Change: M1K
PolyPhen 2
Score 0.053 (Sensitivity: 0.94; Specificity: 0.84)
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000219961
AA Change: M1K
PolyPhen 2
Score 0.014 (Sensitivity: 0.96; Specificity: 0.79)
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.8%
- 20x: 99.3%
|
| 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. 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: 38 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca13 |
C |
A |
11: 9,219,282 (GRCm39) |
D405E |
probably benign |
Het |
| Abca6 |
T |
A |
11: 110,110,145 (GRCm39) |
L599F |
probably damaging |
Het |
| Accs |
T |
C |
2: 93,668,460 (GRCm39) |
Y337C |
probably damaging |
Het |
| Ahrr |
A |
T |
13: 74,431,193 (GRCm39) |
Y10N |
probably damaging |
Het |
| Akap12 |
T |
G |
10: 4,263,856 (GRCm39) |
D88E |
probably benign |
Het |
| Akr1c18 |
G |
A |
13: 4,192,188 (GRCm39) |
R170C |
probably benign |
Het |
| Cgnl1 |
A |
G |
9: 71,537,887 (GRCm39) |
V1211A |
probably damaging |
Het |
| Crlf2 |
T |
C |
5: 109,704,917 (GRCm39) |
D98G |
probably benign |
Het |
| Cyp2c66 |
T |
A |
19: 39,130,773 (GRCm39) |
M129K |
probably benign |
Het |
| Dennd4b |
T |
C |
3: 90,181,165 (GRCm39) |
W774R |
probably damaging |
Het |
| Dhx9 |
T |
C |
1: 153,335,210 (GRCm39) |
M932V |
probably benign |
Het |
| Dnah7a |
A |
G |
1: 53,679,520 (GRCm39) |
S322P |
probably benign |
Het |
| Dst |
A |
G |
1: 34,206,373 (GRCm39) |
D907G |
probably damaging |
Het |
| Hrh1 |
A |
G |
6: 114,457,966 (GRCm39) |
K416E |
probably damaging |
Het |
| Ints6 |
G |
C |
14: 62,998,028 (GRCm39) |
T27R |
possibly damaging |
Het |
| Krt10 |
C |
T |
11: 99,278,359 (GRCm39) |
E267K |
probably damaging |
Het |
| Lama5 |
T |
C |
2: 179,837,015 (GRCm39) |
N1074S |
probably damaging |
Het |
| Lrp2 |
C |
T |
2: 69,344,585 (GRCm39) |
W844* |
probably null |
Het |
| N4bp2l2 |
T |
G |
5: 150,585,821 (GRCm39) |
N53T |
probably benign |
Het |
| Naip6 |
C |
T |
13: 100,436,784 (GRCm39) |
A580T |
possibly damaging |
Het |
| Nbeal2 |
C |
T |
9: 110,463,457 (GRCm39) |
S1258N |
possibly damaging |
Het |
| Or52a5 |
T |
C |
7: 103,426,968 (GRCm39) |
I195V |
probably benign |
Het |
| Osgin2 |
A |
T |
4: 16,005,493 (GRCm39) |
V131D |
probably damaging |
Het |
| Pced1a |
T |
C |
2: 130,265,577 (GRCm39) |
|
probably benign |
Het |
| Phf8-ps |
C |
A |
17: 33,286,038 (GRCm39) |
A255S |
probably benign |
Het |
| Prdm2 |
T |
C |
4: 142,861,584 (GRCm39) |
I569V |
probably damaging |
Het |
| Prss42 |
T |
C |
9: 110,629,984 (GRCm39) |
L246P |
probably damaging |
Het |
| Ptpra |
C |
A |
2: 130,391,679 (GRCm39) |
D732E |
probably damaging |
Het |
| Rsf1 |
CGGCGGCGG |
CGGCGGCGGGGGCGGCGG |
7: 97,229,121 (GRCm39) |
|
probably benign |
Het |
| Rspo3 |
T |
C |
10: 29,375,970 (GRCm39) |
T198A |
probably benign |
Het |
| Slc45a2 |
T |
C |
15: 11,027,958 (GRCm39) |
I509T |
possibly damaging |
Het |
| Spag7 |
T |
C |
11: 70,560,059 (GRCm39) |
S17G |
probably benign |
Het |
| Tcl1b2 |
T |
A |
12: 105,113,367 (GRCm39) |
Y7N |
probably benign |
Het |
| Tmem198 |
G |
T |
1: 75,459,353 (GRCm39) |
G103W |
probably damaging |
Het |
| Trim62 |
A |
G |
4: 128,803,233 (GRCm39) |
I428V |
probably benign |
Het |
| Usp7 |
A |
T |
16: 8,512,893 (GRCm39) |
|
probably null |
Het |
| Zan |
T |
A |
5: 137,471,845 (GRCm39) |
T191S |
probably damaging |
Het |
| Zfat |
T |
C |
15: 67,976,916 (GRCm39) |
T1078A |
probably benign |
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 |
|
R6522:Nap1l1
|
UTSW |
10 |
111,330,084 (GRCm39) |
missense |
probably damaging |
0.99 |
|
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 |
|
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'- TGGATTTATAGAACCTAGCCCTTTT -3'
(R):5'- TCTCTGCCCATTGCCAGG -3'
Sequencing Primer
(F):5'- TGACTGTGAGAATCCACTGC -3'
(R):5'- CAGGGGGTGGTTTACTCTATTTGAAG -3'
|
| Posted On |
2020-10-20 |
Incidental Mutation