Mutagenetix > Incidental Mutation

Incidental Mutation 'R5367:Nap1l4'

429414

Institutional Source

Beutler Lab

Gene Symbol

Nap1l4

Ensembl Gene

ENSMUSG00000059119

Gene Name

nucleosome assembly protein 1-like 4

Synonyms

2810410H14Rik, Nap2, D7Wsu30e

MMRRC Submission

042945-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.151) question?

Stock #

R5367 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

143067316-143102843 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to C at 143088035 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Arginine at position 174 (S174R)

Ref Sequence

ENSEMBL: ENSMUSP00000146474 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000072727] [ENSMUST00000207870] [ENSMUST00000207948] [ENSMUST00000208093] [ENSMUST00000208190] [ENSMUST00000209098]

AlphaFold

Q78ZA7

Predicted Effect

possibly damaging
Transcript: ENSMUST00000072727
AA Change: S174R

PolyPhen 2 Score 0.909 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000072510
Gene: ENSMUSG00000059119
AA Change: S174R

Domain	Start	End	E-Value	Type
Pfam:NAP	65	338	5e-103	PFAM
low complexity region	341	370	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000083184

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000207244

Predicted Effect

probably benign
Transcript: ENSMUST00000207870

Predicted Effect

possibly damaging
Transcript: ENSMUST00000207948
AA Change: V6G

PolyPhen 2 Score 0.931 (Sensitivity: 0.81; Specificity: 0.94)

Predicted Effect

probably benign
Transcript: ENSMUST00000208093

Predicted Effect

probably damaging
Transcript: ENSMUST00000208190
AA Change: S174R

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)

Predicted Effect

probably damaging
Transcript: ENSMUST00000209098
AA Change: S174R

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)

Predicted Effect

probably benign
Transcript: ENSMUST00000208317

Meta Mutation Damage Score

0.8153

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.3%
20x: 95.5%

Validation Efficiency

97% (70/72)

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 which can interact with both core and linker histones. It can shuttle between the cytoplasm and nucleus, suggesting a role as a histone chaperone. This gene is one of several located near the imprinted gene domain of 11p15.5, an important tumor-suppressor gene region. Alterations in this region have been associated with the Beckwith-Wiedemann syndrome, Wilms tumor, rhabdomyosarcoma, adrenocortical carcinoma, and lung, ovarian, and breast cancer. [provided by RefSeq, Jul 2008]

Allele List at MGI

Other mutations in this stock

Total: 63 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aadac	T	C	3: 59,947,057 (GRCm39)	Y252H	probably damaging	Het
Aadat	T	C	8: 60,979,630 (GRCm39)	I164T	probably damaging	Het
Adam11	A	G	11: 102,664,479 (GRCm39)	H389R	probably benign	Het
Alkbh5	G	T	11: 60,429,529 (GRCm39)	R94L	possibly damaging	Het
Ampd3	A	G	7: 110,407,078 (GRCm39)	K644R	possibly damaging	Het
Ankhd1	T	A	18: 36,722,461 (GRCm39)	L328H	probably damaging	Het
Ankrd55	G	T	13: 112,455,036 (GRCm39)	V45F	probably damaging	Het
Apol7c	C	A	15: 77,410,347 (GRCm39)	V200F	probably damaging	Het
Arap1	G	A	7: 101,058,337 (GRCm39)	V721M	probably damaging	Het
Arhgef40	A	G	14: 52,227,156 (GRCm39)	D400G	probably damaging	Het
Bmp4	G	T	14: 46,621,950 (GRCm39)	T198K	possibly damaging	Het
Cblb	T	A	16: 52,025,016 (GRCm39)	F970L	probably damaging	Het
Celf5	A	G	10: 81,303,098 (GRCm39)	S148P	probably damaging	Het
Ckap5	T	A	2: 91,445,486 (GRCm39)	C1708S	possibly damaging	Het
Clec2l	T	C	6: 38,654,459 (GRCm39)	F147L	possibly damaging	Het
Cnksr1	T	A	4: 133,957,525 (GRCm39)	I465F	possibly damaging	Het
Coq10b	A	G	1: 55,092,143 (GRCm39)	D37G	probably benign	Het
Cpq	T	G	15: 33,213,250 (GRCm39)	Y90D	possibly damaging	Het
Depdc1a	G	A	3: 159,229,591 (GRCm39)		probably null	Het
Eif2ak4	T	A	2: 118,266,639 (GRCm39)		probably null	Het
Eif3e	C	T	15: 43,115,700 (GRCm39)	M355I	probably damaging	Het
Eif4e1b	G	A	13: 54,934,757 (GRCm39)	V181M	probably damaging	Het
Erap1	A	G	13: 74,794,680 (GRCm39)	E113G	probably damaging	Het
Fads2	A	G	19: 10,041,649 (GRCm39)	L438P	probably damaging	Het
Fbl	T	A	7: 27,874,475 (GRCm39)	V67E	probably damaging	Het
Gde1	A	G	7: 118,304,629 (GRCm39)	L82P	probably damaging	Het
Gm10226	T	C	17: 21,910,884 (GRCm39)	S40P	possibly damaging	Het
Gm10717	T	G	9: 3,026,317 (GRCm39)	F205C	probably damaging	Het
Gm1988	T	A	7: 38,823,204 (GRCm39)		noncoding transcript	Het
Gm6728	T	C	6: 136,463,502 (GRCm39)		noncoding transcript	Het
Grb14	C	T	2: 64,747,653 (GRCm39)	V369I	probably benign	Het
Jag1	T	A	2: 136,927,014 (GRCm39)	Q915L	possibly damaging	Het
Kdm5d	G	A	Y: 941,645 (GRCm39)	G1282D	probably benign	Het
Krt87	A	T	15: 101,384,875 (GRCm39)	L407Q	probably damaging	Het
Mlf1	A	T	3: 67,301,296 (GRCm39)	H118L	probably damaging	Het
Mmp10	G	T	9: 7,505,603 (GRCm39)	C289F	probably damaging	Het
Mroh2a	A	T	1: 88,182,687 (GRCm39)	N1205I	possibly damaging	Het
Myo9a	T	A	9: 59,807,732 (GRCm39)	S2029T	probably damaging	Het
Nos3	A	G	5: 24,576,942 (GRCm39)	T490A	probably benign	Het
Or12d2	T	A	17: 37,625,147 (GRCm39)	I43F	probably damaging	Het
Or4k35	T	A	2: 111,100,235 (GRCm39)	Q159L	possibly damaging	Het
Or5a1	A	G	19: 12,097,800 (GRCm39)	V80A	possibly damaging	Het
Or5b106	G	A	19: 13,123,865 (GRCm39)	L53F	probably damaging	Het
Or5g23	A	T	2: 85,438,718 (GRCm39)	C179S	probably damaging	Het
Pdlim7	G	C	13: 55,653,975 (GRCm39)	T214S	probably benign	Het
Piezo2	T	C	18: 63,197,802 (GRCm39)	E1578G	probably damaging	Het
Ptcd1	T	A	5: 145,084,715 (GRCm39)		probably benign	Het
Sart3	C	T	5: 113,897,277 (GRCm39)		probably null	Het
Scara5	CG	C	14: 65,997,111 (GRCm39)		probably null	Het
Scrn2	A	G	11: 96,923,953 (GRCm39)	D279G	possibly damaging	Het
Sh2d3c	A	G	2: 32,635,914 (GRCm39)	D94G	probably damaging	Het
Slc12a4	A	T	8: 106,678,266 (GRCm39)	V309E	probably damaging	Het
Slc1a6	A	G	10: 78,623,637 (GRCm39)	E12G	probably damaging	Het
Smarcal1	T	C	1: 72,635,135 (GRCm39)		probably null	Het
Smr3a	T	C	5: 88,155,897 (GRCm39)		probably benign	Het
Stox2	A	G	8: 47,656,260 (GRCm39)	I72T	probably damaging	Het
Tmem234	G	T	4: 129,494,500 (GRCm39)		probably benign	Het
Tmem35b	A	G	4: 127,018,266 (GRCm39)	Q20R	possibly damaging	Het
Tom1l2	G	A	11: 60,132,634 (GRCm39)	H430Y	probably benign	Het
Tpo	T	C	12: 30,153,289 (GRCm39)	Y355C	probably damaging	Het
Tulp2	A	G	7: 45,166,075 (GRCm39)	N122S	possibly damaging	Het
Washc2	T	A	6: 116,236,111 (GRCm39)	L1194H	probably damaging	Het
Xbp1	T	C	11: 5,471,910 (GRCm39)	V12A	probably benign	Het

Other mutations in Nap1l4

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01483:Nap1l4	APN	7	143,081,053 (GRCm39)	splice site	probably null
IGL02696:Nap1l4	APN	7	143,077,898 (GRCm39)	missense	possibly damaging	0.67
IGL02710:Nap1l4	APN	7	143,077,998 (GRCm39)	missense	probably benign	0.00
IGL03059:Nap1l4	APN	7	143,080,902 (GRCm39)	critical splice donor site	probably null
IGL03164:Nap1l4	APN	7	143,091,953 (GRCm39)	critical splice donor site	probably null
IGL03240:Nap1l4	APN	7	143,091,982 (GRCm39)	missense	probably benign	0.00
Ballerina	UTSW	7	143,088,200 (GRCm39)	splice site	probably null
R1576:Nap1l4	UTSW	7	143,091,953 (GRCm39)	critical splice donor site	probably null
R1705:Nap1l4	UTSW	7	143,095,497 (GRCm39)	start codon destroyed	probably null	1.00
R1967:Nap1l4	UTSW	7	143,088,024 (GRCm39)	missense	probably damaging	0.99
R1989:Nap1l4	UTSW	7	143,080,921 (GRCm39)	missense	probably damaging	0.99
R3734:Nap1l4	UTSW	7	143,088,132 (GRCm39)	unclassified	probably benign
R4799:Nap1l4	UTSW	7	143,088,200 (GRCm39)	splice site	probably null
R9751:Nap1l4	UTSW	7	143,088,132 (GRCm39)	unclassified	probably benign

Predicted Primers

PCR Primer
(F):5'- CTTTAGAGCACCGAGGGATCAG -3'
(R):5'- GAATCCATTTGGTTCAGCTTCC -3'

Sequencing Primer
(F):5'- GGTGGTAGCACACGCCTTTAATC -3'
(R):5'- AACCTACCTTCCTCCTGGGG -3'

Posted On

2016-09-06