Mutagenetix > Incidental Mutation

Incidental Mutation 'R7284:Nploc4'

565891

Institutional Source

Beutler Lab

Gene Symbol

Nploc4

Ensembl Gene

ENSMUSG00000039703

Gene Name

NPL4 homolog, ubiquitin recognition factor

Synonyms

MMRRC Submission

045392-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R7284 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

120380370-120437708 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 120416370 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Valine to Isoleucine at position 181 (V181I)

Ref Sequence

ENSEMBL: ENSMUSP00000035851 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000044271] [ENSMUST00000103017]

AlphaFold

P60670

PDB Structure

Strctural Model of the p97 N domain- npl4 UBD complex [SOLUTION NMR]

Predicted Effect

possibly damaging
Transcript: ENSMUST00000044271
AA Change: V181I

PolyPhen 2 Score 0.889 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000035851
Gene: ENSMUSG00000039703
AA Change: V181I

Domain	Start	End	E-Value	Type
Pfam:UN_NPL4	1	80	1.1e-36	PFAM
Pfam:zf-NPL4	105	245	2.1e-64	PFAM
Pfam:NPL4	248	557	4.8e-129	PFAM
ZnF_RBZ	582	606	8.4e-4	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000103017
AA Change: V181I

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

SMART Domains

Protein: ENSMUSP00000099306
Gene: ENSMUSG00000039703
AA Change: V181I

Domain	Start	End	E-Value	Type
Pfam:UN_NPL4	1	80	7e-38	PFAM
Pfam:zf-NPL4	104	246	1.1e-61	PFAM
Pfam:NPL4	248	455	1.8e-87	PFAM
Pfam:NPL4	451	525	3e-15	PFAM
ZnF_RBZ	550	574	8.4e-4	SMART

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.5%
20x: 98.3%

Validation Efficiency

99% (77/78)

Allele List at MGI

Other mutations in this stock

Total: 77 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2310035C23Rik	T	A	1: 105,734,583 (GRCm38)	H942Q	probably benign	Het
2900092C05Rik	G	T	7: 12,512,678 (GRCm38)	E34*	probably null	Het
4933421I07Rik	C	T	7: 42,447,980 (GRCm38)	R30H	probably damaging	Het
AB124611	C	A	9: 21,539,104 (GRCm38)	Q158K	probably benign	Het
Abcc3	C	T	11: 94,357,047 (GRCm38)	A1207T	probably benign	Het
Abcc9	A	T	6: 142,682,917 (GRCm38)	L367Q	probably damaging	Het
Aftph	T	C	11: 20,726,812 (GRCm38)	K266E	probably benign	Het
Akap9	T	A	5: 3,956,246 (GRCm38)	D190E	probably damaging	Het
Angel1	G	T	12: 86,720,524 (GRCm38)	D359E	probably damaging	Het
Ano6	T	C	15: 95,948,303 (GRCm38)	I474T	probably damaging	Het
Atp2c1	A	T	9: 105,520,809 (GRCm38)		probably null	Het
Best1	T	C	19: 9,986,373 (GRCm38)		probably null	Het
Bhlha9	A	G	11: 76,672,666 (GRCm38)	S40G	probably benign	Het
Cabin1	G	A	10: 75,694,834 (GRCm38)	R178C		Het
Ccnb1ip1	A	G	14: 50,792,279 (GRCm38)	Y109H	probably damaging	Het
Col14a1	T	C	15: 55,518,319 (GRCm38)	S1763P	probably damaging	Het
Dars	T	C	1: 128,372,267 (GRCm38)	T327A	probably benign	Het
Dhx8	T	C	11: 101,754,822 (GRCm38)	Y889H	probably damaging	Het
Dlg4	T	A	11: 70,042,082 (GRCm38)	Y523*	probably null	Het
Dnah10	A	T	5: 124,832,598 (GRCm38)	D4484V	probably benign	Het
Dnah9	A	T	11: 65,990,476 (GRCm38)	M2591K	probably damaging	Het
Dock2	T	C	11: 34,230,672 (GRCm38)	E1715G	probably benign	Het
Dym	A	G	18: 75,119,171 (GRCm38)	Y336C	possibly damaging	Het
Ezh2	A	G	6: 47,544,519 (GRCm38)	M439T	probably benign	Het
Folr1	T	G	7: 101,859,470 (GRCm38)	N83H	possibly damaging	Het
Ganab	T	C	19: 8,912,540 (GRCm38)	L656P	probably damaging	Het
Gmnc	T	C	16: 26,960,792 (GRCm38)	H161R	probably benign	Het
Gria4	A	G	9: 4,472,017 (GRCm38)	Y491H	probably damaging	Het
Heatr3	T	A	8: 88,156,774 (GRCm38)	C412S	possibly damaging	Het
Hmgcr	A	C	13: 96,652,665 (GRCm38)	V716G	probably damaging	Het
Igsf9	A	G	1: 172,496,912 (GRCm38)	D799G	probably damaging	Het
Ikbkb	T	C	8: 22,668,960 (GRCm38)	T501A	probably benign	Het
Kbtbd3	C	T	9: 4,330,690 (GRCm38)	R355*	probably null	Het
Kcna7	T	A	7: 45,409,228 (GRCm38)	I313N	probably damaging	Het
Kirrel	A	C	3: 87,083,387 (GRCm38)	D709E	probably benign	Het
Klb	T	A	5: 65,383,478 (GRCm38)	S971R	probably benign	Het
Krtap4-13	A	T	11: 99,809,412 (GRCm38)	C140*	probably null	Het
Lacc1	A	T	14: 77,030,869 (GRCm38)	L334Q	probably damaging	Het
Map6d1	T	A	16: 20,241,025 (GRCm38)	R97*	probably null	Het
Mgat5b	T	C	11: 116,944,920 (GRCm38)	S129P	probably damaging	Het
Mmp1a	TG	TGG	9: 7,465,083 (GRCm38)		probably null	Het
Myh9	G	A	15: 77,787,596 (GRCm38)	R432C	probably damaging	Het
Ncf4	A	G	15: 78,260,702 (GRCm38)	T236A	probably benign	Het
Neb	T	C	2: 52,258,792 (GRCm38)	D2581G	probably damaging	Het
Nid1	T	A	13: 13,489,090 (GRCm38)	M778K	probably benign	Het
Npas2	A	G	1: 39,324,467 (GRCm38)	D209G	probably benign	Het
Nrcam	A	T	12: 44,564,034 (GRCm38)	I506F	probably damaging	Het
Olfr197	A	G	16: 59,185,968 (GRCm38)	*172Q	probably null	Het
Olfr692	T	A	7: 105,368,545 (GRCm38)	M73K	probably damaging	Het
Olfr803	T	C	10: 129,691,351 (GRCm38)	N230S	probably benign	Het
Pask	T	A	1: 93,320,669 (GRCm38)	Q970L	probably benign	Het
Pfkfb4	T	C	9: 109,011,240 (GRCm38)	I308T	possibly damaging	Het
Pla2g4d	A	T	2: 120,284,136 (GRCm38)	L38Q	probably damaging	Het
Pld1	A	G	3: 28,131,733 (GRCm38)	T1036A	possibly damaging	Het
Pom121l2	A	G	13: 21,982,605 (GRCm38)	T349A	probably damaging	Het
Ppp1r13b	A	G	12: 111,834,966 (GRCm38)	I551T	possibly damaging	Het
Prps1l1	A	G	12: 34,985,318 (GRCm38)	N144S	possibly damaging	Het
Prss56	A	G	1: 87,185,401 (GRCm38)	N179S	probably null	Het
Prune2	T	C	19: 17,119,886 (GRCm38)	L918P	probably damaging	Het
Ptprz1	C	T	6: 23,000,098 (GRCm38)	T729I	probably damaging	Het
Rrp7a	T	C	15: 83,121,870 (GRCm38)	T60A	probably damaging	Het
Snx27	A	G	3: 94,524,191 (GRCm38)	Y299H	probably damaging	Het
Spaca3	G	T	11: 80,864,021 (GRCm38)	R96L	possibly damaging	Het
Stat1	A	G	1: 52,148,922 (GRCm38)	N495S	probably benign	Het
Tas2r130	T	C	6: 131,630,307 (GRCm38)	N175S	probably benign	Het
Tcaf2	A	G	6: 42,629,538 (GRCm38)	L494P	probably damaging	Het
Tdrd12	C	A	7: 35,480,136 (GRCm38)		probably null	Het
Thbs1	A	G	2: 118,119,356 (GRCm38)	N604S	probably damaging	Het
Togaram1	T	C	12: 65,008,680 (GRCm38)	F1482L	probably benign	Het
Trhr2	A	T	8: 122,360,375 (GRCm38)	S109T	probably damaging	Het
Trpc3	A	T	3: 36,624,413 (GRCm38)	M841K	probably damaging	Het
Tubgcp5	C	T	7: 55,823,567 (GRCm38)	R798C	probably benign	Het
Xirp2	T	A	2: 67,516,829 (GRCm38)	M3138K	probably benign	Het
Zdhhc4	G	A	5: 143,321,891 (GRCm38)	T125I	probably benign	Het
Zfp239	T	A	6: 117,871,755 (GRCm38)	C151*	probably null	Het
Zfp473	C	T	7: 44,733,203 (GRCm38)	E569K	not run	Het
Zzef1	T	A	11: 72,886,690 (GRCm38)	D1782E	probably damaging	Het

Other mutations in Nploc4

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02678:Nploc4	APN	11	120,389,372 (GRCm38)	missense	probably benign	0.06
IGL03373:Nploc4	APN	11	120,409,629 (GRCm38)	nonsense	probably null
P0041:Nploc4	UTSW	11	120,418,331 (GRCm38)	missense	probably damaging	1.00
R0200:Nploc4	UTSW	11	120,413,681 (GRCm38)	missense	probably damaging	1.00
R0608:Nploc4	UTSW	11	120,413,681 (GRCm38)	missense	probably damaging	1.00
R1401:Nploc4	UTSW	11	120,383,289 (GRCm38)	splice site	probably benign
R1465:Nploc4	UTSW	11	120,408,781 (GRCm38)	missense	probably damaging	0.98
R1465:Nploc4	UTSW	11	120,408,781 (GRCm38)	missense	probably damaging	0.98
R1722:Nploc4	UTSW	11	120,382,569 (GRCm38)	missense	probably benign	0.02
R1919:Nploc4	UTSW	11	120,404,229 (GRCm38)	missense	probably damaging	1.00
R2436:Nploc4	UTSW	11	120,418,317 (GRCm38)	missense	possibly damaging	0.79
R4603:Nploc4	UTSW	11	120,385,787 (GRCm38)	missense	probably benign	0.00
R4771:Nploc4	UTSW	11	120,421,434 (GRCm38)	missense	possibly damaging	0.47
R5179:Nploc4	UTSW	11	120,408,856 (GRCm38)	missense	probably benign	0.02
R5361:Nploc4	UTSW	11	120,384,563 (GRCm38)	missense	probably damaging	1.00
R5414:Nploc4	UTSW	11	120,413,643 (GRCm38)	missense	probably damaging	0.99
R5567:Nploc4	UTSW	11	120,384,614 (GRCm38)	missense	probably benign	0.00
R5570:Nploc4	UTSW	11	120,384,614 (GRCm38)	missense	probably benign	0.00
R6259:Nploc4	UTSW	11	120,385,865 (GRCm38)	missense	probably benign	0.01
R6547:Nploc4	UTSW	11	120,428,522 (GRCm38)	critical splice donor site	probably null
R6683:Nploc4	UTSW	11	120,383,330 (GRCm38)	missense	probably damaging	0.98
R7134:Nploc4	UTSW	11	120,385,788 (GRCm38)	missense	probably benign	0.02
R7256:Nploc4	UTSW	11	120,428,550 (GRCm38)	missense	probably benign
R7386:Nploc4	UTSW	11	120,408,881 (GRCm38)	missense	probably benign	0.17
R8130:Nploc4	UTSW	11	120,389,414 (GRCm38)	missense	possibly damaging	0.80
R8835:Nploc4	UTSW	11	120,418,296 (GRCm38)	missense	possibly damaging	0.95
R9031:Nploc4	UTSW	11	120,428,542 (GRCm38)	missense	probably damaging	1.00
R9075:Nploc4	UTSW	11	120,413,700 (GRCm38)	missense	possibly damaging	0.49

Predicted Primers

PCR Primer
(F):5'- CACTAGAGAATTGCCACAAAGG -3'
(R):5'- TGGGAAAGAGCTGTGTGTCC -3'

Sequencing Primer
(F):5'- TGCCACAAAGGAAGTGTCTACTTG -3'
(R):5'- AAAGAGCTGTGTGTCCCTCTATAG -3'

Posted On

2019-06-26