Mutagenetix > Incidental Mutation

Incidental Mutation 'P0027:Nap1l5'

8117

Institutional Source

Beutler Lab

Gene Symbol

Nap1l5

Ensembl Gene

ENSMUSG00000055430

Gene Name

nucleosome assembly protein 1-like 5

Synonyms

1110020M21Rik

MMRRC Submission

038280-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.104) question?

Stock #

P0027 (G1)

Quality Score

Status

Validated

Chromosome

Chromosomal Location

58882218-58884061 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 58883810 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Isoleucine at position 48 (N48I)

Ref Sequence

ENSEMBL: ENSMUSP00000062780 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000031823] [ENSMUST00000041401] [ENSMUST00000059539] [ENSMUST00000204629] [ENSMUST00000205101]

AlphaFold

Q9JJF0

Predicted Effect

probably benign
Transcript: ENSMUST00000031823

SMART Domains

Protein: ENSMUSP00000031823
Gene: ENSMUSG00000029804

Domain	Start	End	E-Value	Type
Pfam:RCC1_2	36	65	3.3e-11	PFAM
Pfam:RCC1	52	99	3.6e-15	PFAM
Pfam:RCC1_2	86	115	1.1e-10	PFAM
Pfam:RCC1	102	152	1.4e-16	PFAM
Pfam:RCC1_2	139	168	2.1e-9	PFAM
Pfam:RCC1	155	205	2.6e-16	PFAM
Pfam:RCC1_2	193	221	1.5e-9	PFAM
Pfam:RCC1	208	257	4.7e-17	PFAM
Pfam:RCC1_2	244	273	8e-9	PFAM
Pfam:RCC1	260	309	2.6e-16	PFAM
Pfam:RCC1_2	296	326	2.3e-7	PFAM
Pfam:RCC1	313	377	3.8e-9	PFAM
HECTc	721	913	2.08e-12	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000041401

SMART Domains

Protein: ENSMUSP00000040025
Gene: ENSMUSG00000029804

Domain	Start	End	E-Value	Type
Pfam:RCC1_2	36	65	1.7e-11	PFAM
Pfam:RCC1	52	99	1.6e-15	PFAM
Pfam:RCC1_2	86	115	1.1e-10	PFAM
Pfam:RCC1	102	152	7.3e-16	PFAM
Pfam:RCC1_2	139	168	1.3e-9	PFAM
Pfam:RCC1	155	205	1.4e-16	PFAM
Pfam:RCC1_2	193	221	5e-10	PFAM
Pfam:RCC1	208	257	1.4e-16	PFAM
Pfam:RCC1_2	244	273	6.1e-8	PFAM
Pfam:RCC1	260	309	1.7e-14	PFAM
Pfam:RCC1_2	296	326	1.1e-7	PFAM
Pfam:RCC1	313	377	6.6e-11	PFAM
HECTc	721	1050	5.79e-157	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000059539
AA Change: N48I

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000062780
Gene: ENSMUSG00000055430
AA Change: N48I

Domain	Start	End	E-Value	Type
low complexity region	34	54	N/A	INTRINSIC
Pfam:NAP	66	154	3.8e-13	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000131132

Predicted Effect

probably benign
Transcript: ENSMUST00000204629

SMART Domains

Protein: ENSMUSP00000145319
Gene: ENSMUSG00000029804

Domain	Start	End	E-Value	Type
Pfam:HECT	1	97	1.9e-16	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000205101

SMART Domains

Protein: ENSMUSP00000145365
Gene: ENSMUSG00000055430

Domain	Start	End	E-Value	Type
SCOP:d1qbkb_	1	58	5e-4	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000205139

Meta Mutation Damage Score

0.0700

Coding Region Coverage

1x: 82.6%
3x: 72.9%
10x: 45.3%
20x: 23.4%

Validation Efficiency

93% (53/57)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a protein that shares sequence similarity to nucleosome assembly factors, but may be localized to the cytoplasm rather than the nucleus. Expression of this gene is downregulated in hepatocellular carcinomas. This gene is located within a differentially methylated region (DMR) and is imprinted and paternally expressed. There is a related pseudogene on chromosome 4. [provided by RefSeq, Nov 2015]

Allele List at MGI

Other mutations in this stock

Total: 20 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Bicd2	C	A	13: 49,533,127 (GRCm39)	P571Q	probably benign	Het
Camta2	A	G	11: 70,574,831 (GRCm39)	I75T	probably damaging	Het
Casp1	A	T	9: 5,299,851 (GRCm39)	H108L	probably benign	Het
Copa	A	G	1: 171,939,515 (GRCm39)	E593G	possibly damaging	Het
Ftsj3	C	A	11: 106,145,634 (GRCm39)	M66I	possibly damaging	Het
Kdm2a	C	T	19: 4,393,273 (GRCm39)		probably benign	Het
Klhl14	T	C	18: 21,691,192 (GRCm39)	Y446C	probably damaging	Het
Lims1	A	G	10: 58,254,277 (GRCm39)	N344D	probably benign	Het
Marco	A	T	1: 120,402,441 (GRCm39)	W502R	probably damaging	Het
Ms4a10	T	C	19: 10,941,492 (GRCm39)	D159G	probably damaging	Het
Msi2	A	T	11: 88,285,423 (GRCm39)	M207K	probably damaging	Het
Myh15	C	T	16: 48,901,571 (GRCm39)	T249I	possibly damaging	Het
Nup188	A	G	2: 30,212,693 (GRCm39)	D632G	probably damaging	Het
Or1n2	T	C	2: 36,797,582 (GRCm39)	V208A	probably benign	Het
Phactr4	G	C	4: 132,098,401 (GRCm39)	T252R	probably damaging	Het
Sec14l2	C	T	11: 4,053,673 (GRCm39)		probably null	Het
Sim2	C	A	16: 93,910,281 (GRCm39)	H228N	probably benign	Het
Tent4a	G	A	13: 69,655,074 (GRCm39)	R224*	probably null	Het
Tmem26	A	G	10: 68,614,548 (GRCm39)	E321G	probably benign	Het
Yif1b	T	C	7: 28,938,038 (GRCm39)		probably null	Het

Other mutations in Nap1l5

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
R0685:Nap1l5	UTSW	6	58,883,757 (GRCm39)	missense	possibly damaging	0.52
R5524:Nap1l5	UTSW	6	58,883,763 (GRCm39)	missense	possibly damaging	0.81
R7890:Nap1l5	UTSW	6	58,883,873 (GRCm39)	missense	probably damaging	1.00
R7896:Nap1l5	UTSW	6	58,883,505 (GRCm39)	missense	probably damaging	0.99
R9419:Nap1l5	UTSW	6	58,883,952 (GRCm39)	start codon destroyed	probably benign	0.21

Posted On

2012-11-20