Mutagenetix > Incidental Mutation

Incidental Mutation 'R1619:Nap1l1'

174543

Institutional Source

Beutler Lab

Gene Symbol

Nap1l1

Ensembl Gene

ENSMUSG00000058799

Gene Name

nucleosome assembly protein 1-like 1

Synonyms

D10Ertd68e

MMRRC Submission

039656-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.337) question?

Stock #

R1619 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

111309084-111334011 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 111329240 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Isoleucine at position 285 (V285I)

Ref Sequence

ENSEMBL: ENSMUSP00000151972 (fasta)

Gene Model

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

AlphaFold

P28656

Predicted Effect

possibly damaging
Transcript: ENSMUST00000065917
AA Change: V285I

PolyPhen 2 Score 0.771 (Sensitivity: 0.85; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000070068
Gene: ENSMUSG00000058799
AA Change: V285I

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: V312I

PolyPhen 2 Score 0.065 (Sensitivity: 0.94; Specificity: 0.84)

SMART Domains

Protein: ENSMUSP00000126850
Gene: ENSMUSG00000058799
AA Change: V312I

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

possibly damaging
Transcript: ENSMUST00000217908
AA Change: V285I

PolyPhen 2 Score 0.771 (Sensitivity: 0.85; Specificity: 0.92)

Predicted Effect

possibly damaging
Transcript: ENSMUST00000218828
AA Change: V285I

PolyPhen 2 Score 0.771 (Sensitivity: 0.85; Specificity: 0.92)

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000218982

Predicted Effect

probably benign
Transcript: ENSMUST00000219143
AA Change: V285I

PolyPhen 2 Score 0.048 (Sensitivity: 0.94; Specificity: 0.83)

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000219718

Predicted Effect

possibly damaging
Transcript: ENSMUST00000219961
AA Change: V285I

PolyPhen 2 Score 0.493 (Sensitivity: 0.88; Specificity: 0.90)

Coding Region Coverage

1x: 99.1%
3x: 98.2%
10x: 95.8%
20x: 91.0%

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: 85 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca7	A	T	10: 79,844,889 (GRCm39)	H1537L	probably damaging	Het
Actg2	T	A	6: 83,500,169 (GRCm39)	N116I	probably damaging	Het
Actn1	G	A	12: 80,219,796 (GRCm39)	H692Y	probably damaging	Het
Adamts6	C	T	13: 104,449,285 (GRCm39)	P36S	probably benign	Het
Agr3	G	A	12: 35,997,858 (GRCm39)		probably null	Het
Ank3	T	C	10: 69,715,805 (GRCm39)	V500A	probably damaging	Het
BC051019	T	A	7: 109,317,269 (GRCm39)	D141V	probably damaging	Het
Bco1	T	C	8: 117,835,454 (GRCm39)	F135S	probably damaging	Het
Cacna1c	C	T	6: 118,589,586 (GRCm39)	R1446H	probably damaging	Het
Ccdc42	A	G	11: 68,485,115 (GRCm39)	K210E	probably damaging	Het
Cckar	A	T	5: 53,857,409 (GRCm39)	W263R	probably damaging	Het
Cela2a	A	G	4: 141,553,252 (GRCm39)		probably null	Het
Cep97	A	T	16: 55,748,159 (GRCm39)	N90K	probably damaging	Het
Ces2g	A	T	8: 105,693,984 (GRCm39)	Q440L	probably damaging	Het
Chchd6	G	T	6: 89,396,736 (GRCm39)	T225K	possibly damaging	Het
Chd1l	C	T	3: 97,490,047 (GRCm39)	E503K	probably benign	Het
Chrna5	A	G	9: 54,911,649 (GRCm39)	T46A	probably benign	Het
Col16a1	G	A	4: 129,992,733 (GRCm39)	G1531S	probably damaging	Het
Col19a1	A	T	1: 24,573,172 (GRCm39)	V200E	unknown	Het
Csf2rb	A	G	15: 78,219,411 (GRCm39)	D2G	probably damaging	Het
Csmd3	G	A	15: 47,813,346 (GRCm39)	S1062L	probably damaging	Het
Cul5	G	T	9: 53,569,893 (GRCm39)	Q113K	probably benign	Het
Dmwd	TAGCCTGGGAA	TAGCCTGGGAAGCCTGGGAA	7: 18,814,959 (GRCm39)		probably benign	Het
Dse	T	C	10: 34,029,230 (GRCm39)	D620G	probably damaging	Het
Dsg1c	A	G	18: 20,397,899 (GRCm39)	N33S	probably benign	Het
Epc2	G	A	2: 49,439,990 (GRCm39)	V803I	probably damaging	Het
Erap1	T	A	13: 74,819,500 (GRCm39)	H171Q	probably damaging	Het
Esrrb	T	C	12: 86,561,274 (GRCm39)	V336A	possibly damaging	Het
Fech	A	T	18: 64,595,189 (GRCm39)	W300R	probably damaging	Het
Fgd4	T	C	16: 16,241,920 (GRCm39)	I635V	possibly damaging	Het
Galc	A	T	12: 98,200,563 (GRCm39)	N282K	probably benign	Het
Gpat2	A	G	2: 127,270,637 (GRCm39)	Y95C	probably benign	Het
Grm2	T	A	9: 106,524,670 (GRCm39)	I682F	probably damaging	Het
Hdac10	G	T	15: 89,010,878 (GRCm39)	A241D	probably damaging	Het
Helz	T	A	11: 107,527,105 (GRCm39)	C182*	probably null	Het
Ift140	A	G	17: 25,307,839 (GRCm39)	Y978C	probably damaging	Het
Intu	T	A	3: 40,652,061 (GRCm39)	C839*	probably null	Het
Jmjd1c	T	C	10: 67,055,654 (GRCm39)	V358A	probably benign	Het
Kif26b	A	G	1: 178,744,043 (GRCm39)	S1380G	probably benign	Het
Lrp1b	A	G	2: 40,587,601 (GRCm39)	S116P	unknown	Het
Lrrc2	T	A	9: 110,790,041 (GRCm39)	S99R	probably benign	Het
Mrpl48	G	A	7: 100,195,482 (GRCm39)		probably benign	Het
Mup9	A	G	4: 60,377,878 (GRCm39)		probably benign	Het
Nepro	A	G	16: 44,547,391 (GRCm39)	D36G	probably benign	Het
Nkain4	A	G	2: 180,577,794 (GRCm39)	F187L	probably damaging	Het
Nobox	A	T	6: 43,284,401 (GRCm39)	C82S	possibly damaging	Het
Ntn4	C	A	10: 93,480,596 (GRCm39)	Q70K	probably damaging	Het
Or13j1	A	G	4: 43,706,292 (GRCm39)	I92T	probably damaging	Het
Or1e26	A	T	11: 73,480,118 (GRCm39)	W149R	probably damaging	Het
Or4k37	A	G	2: 111,159,306 (GRCm39)	I181V	probably benign	Het
Or51a43	T	C	7: 103,717,738 (GRCm39)	R167G	probably damaging	Het
Or5b122	T	A	19: 13,562,978 (GRCm39)	F103L	probably benign	Het
Or9r3	A	G	10: 129,948,548 (GRCm39)	I37T	possibly damaging	Het
Pappa	A	G	4: 65,094,466 (GRCm39)	E497G	probably damaging	Het
Pard3	C	A	8: 128,106,983 (GRCm39)	T569K	probably benign	Het
Parp14	G	A	16: 35,677,130 (GRCm39)	A946V	probably benign	Het
Pcdh10	A	G	3: 45,334,747 (GRCm39)	N354D	possibly damaging	Het
Pdgfc	T	C	3: 81,082,194 (GRCm39)	V129A	probably benign	Het
Pdia3	G	A	2: 121,262,858 (GRCm39)	G275S	probably damaging	Het
Phf20l1	A	T	15: 66,487,108 (GRCm39)	H407L	possibly damaging	Het
Phip	A	T	9: 82,753,502 (GRCm39)	D1747E	probably benign	Het
Pkd1l1	A	G	11: 8,900,413 (GRCm39)	S43P	probably damaging	Het
Plekhg2	T	C	7: 28,067,846 (GRCm39)	E202G	probably damaging	Het
Rapsn	A	G	2: 90,873,504 (GRCm39)	D270G	possibly damaging	Het
Rims2	A	C	15: 39,370,382 (GRCm39)	S939R	probably damaging	Het
Ripor3	T	C	2: 167,822,765 (GRCm39)	D932G	probably damaging	Het
Rtp2	A	T	16: 23,749,421 (GRCm39)	W30R	probably damaging	Het
Scgb2b27	A	T	7: 33,711,557 (GRCm39)	D97E	probably benign	Het
Slc25a46	T	C	18: 31,716,542 (GRCm39)	N320S	probably benign	Het
Slc9b1	A	G	3: 135,060,765 (GRCm39)		probably null	Het
Socs4	T	A	14: 47,527,740 (GRCm39)	M225K	possibly damaging	Het
Spata31d1a	A	T	13: 59,850,247 (GRCm39)	L627*	probably null	Het
Srcin1	A	G	11: 97,416,307 (GRCm39)	L975P	probably damaging	Het
Stard3	T	A	11: 98,267,435 (GRCm39)		probably null	Het
Susd2	G	T	10: 75,473,878 (GRCm39)	S572R	possibly damaging	Het
Tll1	C	A	8: 64,509,307 (GRCm39)	A568S	probably benign	Het
Tmem132a	C	G	19: 10,839,062 (GRCm39)	G460A	probably damaging	Het
Trim62	A	G	4: 128,803,281 (GRCm39)	K444E	probably damaging	Het
Trpm3	A	G	19: 22,689,271 (GRCm39)	T67A	probably damaging	Het
Ttc6	T	C	12: 57,784,454 (GRCm39)	M1841T	possibly damaging	Het
Ulk2	A	T	11: 61,672,572 (GRCm39)	V922D	probably damaging	Het
Vmn2r38	C	A	7: 9,078,532 (GRCm39)	V617L	probably damaging	Het
Xkr6	G	A	14: 64,056,766 (GRCm39)	V226M	probably benign	Het
Zfp940	G	A	7: 29,544,962 (GRCm39)	A315V	possibly damaging	Het
Zfr	C	A	15: 12,150,473 (GRCm39)	T480K	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
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
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'- AGTTGCCCATCCTACTGTGTTTGTG -3'
(R):5'- CAGATCGCCATTCTCAGGAACTGC -3'

Sequencing Primer
(F):5'- GGTACAATCAGTACCTCTGTGTATCC -3'
(R):5'- GAACTGCAAAATTAAAAGAAATGCAC -3'

Posted On

2014-04-24