Incidental Mutation 'R3837:Nap1l1'
| ID |
275706 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Nap1l1
|
| Ensembl Gene |
ENSMUSG00000058799 |
| Gene Name |
nucleosome assembly protein 1-like 1 |
| Synonyms |
D10Ertd68e |
| MMRRC Submission |
040778-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.333)
|
| Stock # |
R3837 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
10 |
| Chromosomal Location |
111309084-111334011 bp(+) (GRCm39) |
| Type of Mutation |
splice site |
| DNA Base Change (assembly) |
T to A
at 111331183 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000151972
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000065917]
[ENSMUST00000171797]
[ENSMUST00000217908]
[ENSMUST00000218828]
[ENSMUST00000219143]
[ENSMUST00000219961]
|
| AlphaFold |
P28656 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000065917
|
| SMART Domains |
Protein: ENSMUSP00000070068
Gene: ENSMUSG00000058799
| 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: ENSMUST00000171797
|
| SMART Domains |
Protein: ENSMUSP00000126850
Gene: ENSMUSG00000058799
| 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 null
Transcript: ENSMUST00000217908
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000218828
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000218982
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000219143
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000219718
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000219961
|
| Meta Mutation Damage Score |
0.9755 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.4%
- 20x: 95.5%
|
| Validation Efficiency |
98% (52/53) |
| 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: 52 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700028I16Rik |
A |
G |
10: 82,648,219 (GRCm39) |
|
noncoding transcript |
Het |
| 4930474N05Rik |
G |
A |
14: 35,817,435 (GRCm39) |
G112S |
probably benign |
Het |
| Adam24 |
T |
C |
8: 41,133,584 (GRCm39) |
S351P |
probably benign |
Het |
| Amigo2 |
T |
C |
15: 97,143,196 (GRCm39) |
I409V |
probably damaging |
Het |
| Arhgef25 |
T |
C |
10: 127,025,605 (GRCm39) |
T12A |
probably benign |
Het |
| Atg10 |
A |
T |
13: 91,085,499 (GRCm39) |
I150K |
probably damaging |
Het |
| AW551984 |
T |
C |
9: 39,509,204 (GRCm39) |
|
probably benign |
Het |
| Cdc20b |
T |
C |
13: 113,220,542 (GRCm39) |
W432R |
probably damaging |
Het |
| Cdh9 |
G |
T |
15: 16,823,524 (GRCm39) |
E169* |
probably null |
Het |
| Col28a1 |
C |
T |
6: 8,014,601 (GRCm39) |
V935M |
possibly damaging |
Het |
| Col6a3 |
T |
C |
1: 90,707,803 (GRCm39) |
N1948D |
unknown |
Het |
| Dnajb2 |
G |
A |
1: 75,218,124 (GRCm39) |
|
probably null |
Het |
| Fam13c |
C |
T |
10: 70,378,478 (GRCm39) |
S336L |
probably damaging |
Het |
| Fn1 |
A |
T |
1: 71,692,314 (GRCm39) |
|
probably null |
Het |
| Fryl |
T |
C |
5: 73,228,608 (GRCm39) |
T1708A |
probably benign |
Het |
| Gcnt4 |
A |
T |
13: 97,083,522 (GRCm39) |
R273* |
probably null |
Het |
| Gldc |
T |
A |
19: 30,096,075 (GRCm39) |
|
probably benign |
Het |
| Glra2 |
C |
T |
X: 164,072,612 (GRCm39) |
V85I |
probably benign |
Het |
| Gm11562 |
A |
G |
11: 99,511,026 (GRCm39) |
I58T |
possibly damaging |
Het |
| Gpam |
T |
C |
19: 55,068,890 (GRCm39) |
N450S |
probably benign |
Het |
| Hivep2 |
C |
A |
10: 14,004,713 (GRCm39) |
T437K |
probably benign |
Het |
| Hmcn2 |
T |
C |
2: 31,303,419 (GRCm39) |
L3020P |
probably damaging |
Het |
| Hmgcr |
A |
G |
13: 96,795,597 (GRCm39) |
I324T |
probably benign |
Het |
| Itih1 |
T |
A |
14: 30,657,785 (GRCm39) |
N429Y |
probably damaging |
Het |
| Lamtor1 |
T |
C |
7: 101,559,315 (GRCm39) |
|
probably null |
Het |
| Lrrd1 |
A |
T |
5: 3,900,204 (GRCm39) |
I170L |
possibly damaging |
Het |
| Magi2 |
G |
A |
5: 20,420,466 (GRCm39) |
D301N |
probably benign |
Het |
| Mid1ip1 |
T |
C |
X: 10,584,620 (GRCm39) |
V51A |
possibly damaging |
Het |
| Mmrn1 |
G |
A |
6: 60,921,831 (GRCm39) |
S96N |
probably benign |
Het |
| Mrc2 |
G |
A |
11: 105,239,257 (GRCm39) |
|
probably null |
Het |
| Msh3 |
C |
A |
13: 92,491,366 (GRCm39) |
G15C |
probably damaging |
Het |
| Myl12b |
C |
A |
17: 71,281,480 (GRCm39) |
E120* |
probably null |
Het |
| Myo3a |
T |
G |
2: 22,455,121 (GRCm39) |
|
probably benign |
Het |
| Nagk |
A |
T |
6: 83,778,139 (GRCm39) |
H245L |
possibly damaging |
Het |
| Nlrc5 |
A |
G |
8: 95,237,929 (GRCm39) |
|
probably benign |
Het |
| Ogfrl1 |
G |
A |
1: 23,409,041 (GRCm39) |
T395I |
probably benign |
Het |
| Polr1b |
T |
A |
2: 128,961,027 (GRCm39) |
F662Y |
possibly damaging |
Het |
| Rrbp1 |
T |
C |
2: 143,831,478 (GRCm39) |
K230E |
probably damaging |
Het |
| Shld2 |
A |
G |
14: 33,971,142 (GRCm39) |
V581A |
probably damaging |
Het |
| Skap2 |
C |
T |
6: 51,886,279 (GRCm39) |
|
probably null |
Het |
| Skint5 |
A |
T |
4: 113,797,938 (GRCm39) |
M215K |
probably damaging |
Het |
| Slc17a4 |
C |
T |
13: 24,085,752 (GRCm39) |
R387H |
probably benign |
Het |
| Tdp1 |
A |
G |
12: 99,860,967 (GRCm39) |
|
probably null |
Het |
| Tlr3 |
G |
A |
8: 45,849,976 (GRCm39) |
L898F |
probably damaging |
Het |
| Tmem210 |
A |
G |
2: 25,178,444 (GRCm39) |
E35G |
possibly damaging |
Het |
| Tpbg |
T |
C |
9: 85,725,167 (GRCm39) |
|
probably benign |
Het |
| Tubb2a |
G |
T |
13: 34,259,294 (GRCm39) |
N165K |
probably benign |
Het |
| Usp14 |
A |
G |
18: 10,024,532 (GRCm39) |
|
probably null |
Het |
| Vmn1r33 |
A |
T |
6: 66,588,701 (GRCm39) |
D284E |
possibly damaging |
Het |
| Wnk1 |
T |
C |
6: 119,927,004 (GRCm39) |
E1265G |
probably damaging |
Het |
| Yme1l1 |
A |
T |
2: 23,081,092 (GRCm39) |
T455S |
possibly damaging |
Het |
| Zfp111 |
T |
C |
7: 23,898,891 (GRCm39) |
N241S |
possibly 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 |
|
|
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 |
|
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'- CGTTGGCTGCAGTAAATCTTTTC -3'
(R):5'- CCTTTGTGTGGAAAACAATCTAAGC -3'
Sequencing Primer
(F):5'- AAAGCTGTCTGGATGTCTCAAG -3'
(R):5'- TGTGTGGAAAACAATCTAAGCAACAG -3'
|
| Posted On |
2015-04-06 |
Incidental Mutation