Mutagenetix > Incidental Mutations

Incidental Mutation 'R0020:Nap1l1'

8363

Institutional Source

Beutler Lab

Gene Symbol

Nap1l1

Ensembl Gene

ENSMUSG00000058799

Gene Name

nucleosome assembly protein 1-like 1

Synonyms

D10Ertd68e

MMRRC Submission

038315-MU

Accession Numbers

Is this an essential gene?

Possibly non essential (E-score: 0.289) question?

Stock #

R0020 (G1)

Quality Score

Status

Validated

Chromosome

Chromosomal Location

111473223-111498150 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to C at 111491023 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Aspartic acid at position 148 (E148D)

Ref Sequence

ENSEMBL: ENSMUSP00000151700 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000065917] [ENSMUST00000171797] [ENSMUST00000217908] [ENSMUST00000218828] [ENSMUST00000219143] [ENSMUST00000219961]

AlphaFold

P28656

Predicted Effect

probably benign
Transcript: ENSMUST00000065917
AA Change: E148D

PolyPhen 2 Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)

SMART Domains

Protein: ENSMUSP00000070068
Gene: ENSMUSG00000058799
AA Change: E148D

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 benign
Transcript: ENSMUST00000171797
AA Change: E175D

PolyPhen 2 Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)

SMART Domains

Protein: ENSMUSP00000126850
Gene: ENSMUSG00000058799
AA Change: E175D

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 benign
Transcript: ENSMUST00000217908
AA Change: E148D

PolyPhen 2 Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)

Predicted Effect

probably benign
Transcript: ENSMUST00000218828
AA Change: E148D

PolyPhen 2 Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000218982

Predicted Effect

probably benign
Transcript: ENSMUST00000219143
AA Change: E148D

PolyPhen 2 Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000219718

Predicted Effect

probably benign
Transcript: ENSMUST00000219961
AA Change: E148D

PolyPhen 2 Score 0.009 (Sensitivity: 0.96; Specificity: 0.77)

Meta Mutation Damage Score

0.0585

Coding Region Coverage

1x: 82.6%
3x: 76.6%
10x: 60.3%
20x: 42.3%

Validation Efficiency

92% (100/109)

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: 39 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
9930021J03Rik	A	T	19: 29,716,197	D2032E	probably damaging	Het
Agfg2	C	T	5: 137,653,802	V432M	probably benign	Het
Akap11	A	T	14: 78,518,177	I74K	probably benign	Het
Atf2	T	C	2: 73,846,284	D122G	possibly damaging	Het
AW549877	T	C	15: 3,991,868		probably benign	Het
C330027C09Rik	A	T	16: 49,001,612	H201L	probably damaging	Het
Ccser1	C	A	6: 61,313,804	T490K	possibly damaging	Het
Clstn1	G	A	4: 149,634,796	V361M	probably damaging	Het
Cnga4	G	T	7: 105,405,677	R53L	probably damaging	Het
Col6a3	T	A	1: 90,811,550	I319F	probably damaging	Het
Cst11	T	A	2: 148,771,333	Y24F	probably damaging	Het
Cstb	T	A	10: 78,427,336	V65E	probably benign	Het
Cyp2j11	G	A	4: 96,307,404	H352Y	probably benign	Het
Ezr	G	T	17: 6,742,727	Q308K	probably damaging	Het
F3	A	T	3: 121,731,616	N169Y	probably damaging	Het
Fbp2	A	T	13: 62,854,048	F118I	probably damaging	Het
Fcho1	C	T	8: 71,716,870	G131R	probably benign	Het
Fhl5	A	T	4: 25,200,054	V260E	probably benign	Het
Gm6614	A	T	6: 141,972,350	V600E	possibly damaging	Het
Grasp	T	C	15: 101,230,552	V157A	probably damaging	Het
Kcna10	A	T	3: 107,195,420	I456F	probably damaging	Het
Loxl2	T	C	14: 69,660,793	V232A	probably damaging	Het
Megf10	G	T	18: 57,287,893	V868F	possibly damaging	Het
Megf9	A	G	4: 70,488,149	V260A	probably benign	Het
Nampt	A	T	12: 32,841,013	S278C	probably damaging	Het
Pamr1	C	T	2: 102,642,078	T574I	probably benign	Het
Pde4d	T	A	13: 109,954,570	C35S	possibly damaging	Het
Pkd1l1	A	G	11: 8,875,765		probably benign	Het
Pkd2	A	G	5: 104,503,516	E910G	probably damaging	Het
Pkhd1l1	A	G	15: 44,556,872	Y3002C	probably damaging	Het
Ppp6r2	T	A	15: 89,259,139	M163K	probably damaging	Het
Prdm4	T	C	10: 85,907,623	N256S	probably benign	Het
Ptpro	T	A	6: 137,443,594	V1007D	probably damaging	Het
Scube2	A	G	7: 109,830,888		probably benign	Het
Sptbn5	T	A	2: 120,065,631	I779F	probably damaging	Het
Uspl1	A	G	5: 149,209,779	T447A	probably damaging	Het
Zfp282	T	G	6: 47,880,009	W59G	probably damaging	Het
Zfp629	C	G	7: 127,611,169	E489D	probably benign	Het
Zfp746	C	A	6: 48,064,707	A362S	probably benign	Het

Other mutations in Nap1l1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01154:Nap1l1	APN	10	111486675	missense	probably damaging	0.98
IGL01453:Nap1l1	APN	10	111492978	missense	probably benign	0.09
IGL01734:Nap1l1	APN	10	111492899	missense	probably benign	0.26
IGL01843:Nap1l1	APN	10	111492911	missense	possibly damaging	0.93
PIT1430001:Nap1l1	UTSW	10	111486736	missense	probably damaging	1.00
PIT4131001:Nap1l1	UTSW	10	111486722	missense	probably null
R0020:Nap1l1	UTSW	10	111491023	missense	probably benign	0.01
R0131:Nap1l1	UTSW	10	111485509	missense	probably benign	0.17
R0131:Nap1l1	UTSW	10	111485509	missense	probably benign	0.17
R0132:Nap1l1	UTSW	10	111485509	missense	probably benign	0.17
R0601:Nap1l1	UTSW	10	111490363	splice site	probably benign
R1576:Nap1l1	UTSW	10	111494820	missense	probably damaging	1.00
R1619:Nap1l1	UTSW	10	111493379	missense	possibly damaging	0.77
R1969:Nap1l1	UTSW	10	111491053	missense	probably benign	0.03
R2071:Nap1l1	UTSW	10	111492900	missense	possibly damaging	0.46
R2383:Nap1l1	UTSW	10	111493411	missense	probably damaging	1.00
R3836:Nap1l1	UTSW	10	111495322	splice site	probably null
R3837:Nap1l1	UTSW	10	111495322	splice site	probably null
R3838:Nap1l1	UTSW	10	111495322	splice site	probably null
R3839:Nap1l1	UTSW	10	111495322	splice site	probably null
R4084:Nap1l1	UTSW	10	111490077	missense	possibly damaging	0.92
R4609:Nap1l1	UTSW	10	111492880	nonsense	probably null
R4985:Nap1l1	UTSW	10	111490083	missense	probably benign	0.01
R5906:Nap1l1	UTSW	10	111491030	nonsense	probably null
R5982:Nap1l1	UTSW	10	111495368	missense	possibly damaging	0.71
R6522:Nap1l1	UTSW	10	111494223	missense	probably damaging	0.99
R6868:Nap1l1	UTSW	10	111494808	missense	probably damaging	1.00
R7134:Nap1l1	UTSW	10	111494794	critical splice acceptor site	probably null
R7202:Nap1l1	UTSW	10	111491103	missense	probably damaging	1.00
R7789:Nap1l1	UTSW	10	111490456	missense	probably benign	0.01
R7950:Nap1l1	UTSW	10	111492908	missense	probably damaging	1.00
R8404:Nap1l1	UTSW	10	111481301	start codon destroyed	probably null	0.53
R8502:Nap1l1	UTSW	10	111481301	start codon destroyed	probably null	0.53
R8933:Nap1l1	UTSW	10	111492849	missense	probably benign	0.04

Posted On

2012-11-27