Mutagenetix > Incidental Mutation

Incidental Mutation 'R5524:Nap1l5'

431743

Institutional Source

Beutler Lab

Gene Symbol

Nap1l5

Ensembl Gene

ENSMUSG00000055430

Gene Name

nucleosome assembly protein 1-like 5

Synonyms

1110020M21Rik

MMRRC Submission

043082-MU

Accession Numbers

Essential gene?

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

Stock #

R5524 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

58882218-58884061 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 58883763 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Leucine at position 64 (V64L)

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

possibly damaging
Transcript: ENSMUST00000059539
AA Change: V64L

PolyPhen 2 Score 0.813 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000062780
Gene: ENSMUSG00000055430
AA Change: V64L

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

0.1987

Coding Region Coverage

1x: 98.3%
3x: 97.3%
10x: 95.4%
20x: 91.4%

Validation Efficiency

100% (76/76)

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: 70 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700010L04Rik	T	A	7: 82,503,150 (GRCm39)		noncoding transcript	Het
6030469F06Rik	A	G	12: 31,234,862 (GRCm39)		noncoding transcript	Het
A830031A19Rik	T	A	11: 24,008,776 (GRCm39)	I13F	unknown	Het
Acsbg2	A	C	17: 57,157,197 (GRCm39)	L309R	probably damaging	Het
Adam32	A	T	8: 25,412,328 (GRCm39)	M76K	probably damaging	Het
Adamts14	C	A	10: 61,066,222 (GRCm39)	R297L	probably damaging	Het
Agbl5	G	A	5: 31,051,247 (GRCm39)		probably null	Het
Asb14	A	G	14: 26,622,408 (GRCm39)	K80E	possibly damaging	Het
Baiap2l1	T	C	5: 144,217,759 (GRCm39)	T276A	probably benign	Het
Cacna1d	G	A	14: 29,764,086 (GRCm39)	P2127S	probably benign	Het
Ces2g	A	G	8: 105,693,527 (GRCm39)	T403A	probably benign	Het
Cgn	A	C	3: 94,687,299 (GRCm39)	M1R	probably null	Het
Chd5	T	G	4: 152,461,087 (GRCm39)	S1226A	probably benign	Het
Col18a1	A	G	10: 76,894,558 (GRCm39)	V1497A	probably damaging	Het
Cpd	A	T	11: 76,688,727 (GRCm39)	Y848*	probably null	Het
Cyp2a12	T	C	7: 26,730,656 (GRCm39)	V207A	probably benign	Het
Cyth1	G	A	11: 118,073,593 (GRCm39)	R247W	probably benign	Het
Derl3	T	C	10: 75,730,324 (GRCm39)	V129A	possibly damaging	Het
Ehmt2	C	T	17: 35,118,067 (GRCm39)	R40*	probably null	Het
Eml1	A	T	12: 108,487,635 (GRCm39)	I518L	probably damaging	Het
Eri1	A	G	8: 35,945,763 (GRCm39)	V174A	probably benign	Het
Fgd3	T	A	13: 49,431,053 (GRCm39)	I435F	probably damaging	Het
Foxd1	T	G	13: 98,492,412 (GRCm39)	S429A	unknown	Het
Ftcd	T	A	10: 76,425,165 (GRCm39)		probably benign	Het
Gm5478	G	T	15: 101,553,102 (GRCm39)	N323K	probably benign	Het
Gnpda1	G	T	18: 38,468,161 (GRCm39)	P45Q	probably damaging	Het
Kif20a	G	T	18: 34,763,678 (GRCm39)		probably null	Het
Klrb1	T	C	6: 128,689,296 (GRCm39)		probably null	Het
Lcorl	C	A	5: 45,932,864 (GRCm39)		probably null	Het
Lcorl	T	A	5: 45,932,865 (GRCm39)		probably null	Het
Lrp1b	T	A	2: 41,000,900 (GRCm39)	K2108M	probably damaging	Het
Lyst	C	T	13: 13,921,364 (GRCm39)	P3437S	probably benign	Het
Macrod2	A	T	2: 142,159,863 (GRCm39)	M349L	possibly damaging	Het
Marchf7	T	C	2: 60,075,647 (GRCm39)		probably benign	Het
Mcm9	A	T	10: 53,424,786 (GRCm39)	C601*	probably null	Het
Muc19	G	T	15: 91,778,587 (GRCm39)		noncoding transcript	Het
Mycbp2	T	C	14: 103,532,673 (GRCm39)	D427G	probably damaging	Het
Ncam2	C	T	16: 81,231,766 (GRCm39)	R77*	probably null	Het
Npas3	T	C	12: 54,115,721 (GRCm39)	V863A	possibly damaging	Het
Nr2c2	T	A	6: 92,116,746 (GRCm39)		probably null	Het
Oosp3	T	C	19: 11,682,794 (GRCm39)	F56S	possibly damaging	Het
Or1a1b	A	T	11: 74,097,409 (GRCm39)	L211Q	probably damaging	Het
Or5k17	C	T	16: 58,746,172 (GRCm39)	C254Y	probably benign	Het
Or8g20	C	T	9: 39,396,283 (GRCm39)	V89M	probably damaging	Het
Plgrkt	G	A	19: 29,327,850 (GRCm39)	P78S	probably damaging	Het
Prss36	G	A	7: 127,533,637 (GRCm39)	Q56*	probably null	Het
Ptprz1	A	G	6: 22,986,317 (GRCm39)		probably null	Het
Qsox2	A	T	2: 26,107,699 (GRCm39)	F265I	probably damaging	Het
R3hcc1l	G	T	19: 42,552,307 (GRCm39)	E435*	probably null	Het
Shbg	T	C	11: 69,507,588 (GRCm39)	D163G	probably benign	Het
Skint7	T	A	4: 111,837,546 (GRCm39)	L108H	probably damaging	Het
Smtnl1	T	A	2: 84,649,238 (GRCm39)	E5D	probably benign	Het
Spock1	C	T	13: 57,704,608 (GRCm39)	G120D	probably damaging	Het
Stk11ip	G	T	1: 75,508,971 (GRCm39)	C700F	probably damaging	Het
Sult4a1	C	T	15: 83,974,159 (GRCm39)		probably null	Het
Syngap1	A	G	17: 27,176,126 (GRCm39)	H138R	probably damaging	Het
Tdrd7	A	G	4: 46,034,301 (GRCm39)	K1016E	probably benign	Het
Tmem167b	T	C	3: 108,467,569 (GRCm39)	K26E	possibly damaging	Het
Tnfaip3	A	G	10: 18,883,943 (GRCm39)	S146P	probably damaging	Het
Ttn	C	T	2: 76,607,060 (GRCm39)	V16242I	possibly damaging	Het
Vmn2r-ps3	T	A	3: 63,960,870 (GRCm39)		noncoding transcript	Het
Vps13c	T	C	9: 67,864,838 (GRCm39)	F3049S	probably damaging	Het
Vstm2l	T	C	2: 157,777,355 (GRCm39)	W78R	probably damaging	Het
Wbp1l	C	A	19: 46,642,695 (GRCm39)	A216D	possibly damaging	Het
Zer1	C	G	2: 29,994,866 (GRCm39)	V510L	probably damaging	Het
Zfp28	A	T	7: 6,397,850 (GRCm39)		probably null	Het
Zfp352	C	A	4: 90,113,341 (GRCm39)	P494T	possibly damaging	Het
Zfp353-ps	A	G	8: 42,535,600 (GRCm39)		noncoding transcript	Het
Zfp563	A	T	17: 33,321,515 (GRCm39)		probably null	Het
Zim1	T	C	7: 6,680,320 (GRCm39)	N448D	probably benign	Het

Other mutations in Nap1l5

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
P0027:Nap1l5	UTSW	6	58,883,810 (GRCm39)	missense	probably damaging	1.00
R0685:Nap1l5	UTSW	6	58,883,757 (GRCm39)	missense	possibly damaging	0.52
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

Predicted Primers

PCR Primer
(F):5'- TTCTTGGCGAAGTTGGGACC -3'
(R):5'- GACCAGCTCTATTGCAGACTGC -3'

Sequencing Primer
(F):5'- AGTTGCGCCAGCTGCAG -3'
(R):5'- TGAGCCGAGCAGTAGCCATG -3'

Posted On

2016-10-05