Mutagenetix > Incidental Mutation

Incidental Mutation 'R6683:Nploc4'

527588

Institutional Source

Beutler Lab

Gene Symbol

Nploc4

Ensembl Gene

ENSMUSG00000039703

Gene Name

NPL4 homolog, ubiquitin recognition factor

Synonyms

MMRRC Submission

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R6683 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

120380370-120437708 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 120383330 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 546 (S546P)

Ref Sequence

ENSEMBL: ENSMUSP00000035851 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000026448] [ENSMUST00000044271] [ENSMUST00000103017]

AlphaFold

P60670

PDB Structure

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

Predicted Effect

probably benign
Transcript: ENSMUST00000026448

SMART Domains

Protein: ENSMUSP00000026448
Gene: ENSMUSG00000025384

Domain	Start	End	E-Value	Type
Pfam:FANCAA	447	879	1.4e-196	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000044271
AA Change: S546P

PolyPhen 2 Score 0.983 (Sensitivity: 0.75; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000035851
Gene: ENSMUSG00000039703
AA Change: S546P

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 damaging
Transcript: ENSMUST00000103017
AA Change: S514P

PolyPhen 2 Score 0.963 (Sensitivity: 0.78; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000099306
Gene: ENSMUSG00000039703
AA Change: S514P

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000135635

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000137041

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000148520

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000152346

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000153015

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000154826

Coding Region Coverage

1x: 99.9%
3x: 99.7%
10x: 98.5%
20x: 96.0%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 37 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aamp	T	C	1: 74,282,445	E169G	possibly damaging	Het
Acat2	G	A	17: 12,943,927	R377C	probably benign	Het
Adgrg6	A	G	10: 14,456,167	V398A	probably damaging	Het
BC025920	A	G	10: 81,609,301	H86R	probably damaging	Het
BC028528	T	C	3: 95,888,227	T88A	probably damaging	Het
Creb3l4	T	A	3: 90,237,805	T347S	probably benign	Het
Dhcr7	T	C	7: 143,843,311	V180A	probably damaging	Het
Fam187a	T	C	11: 102,886,189	V273A	probably damaging	Het
Hdgfl3	G	A	7: 81,900,353	R78W	possibly damaging	Het
Krt8	T	C	15: 101,998,004	T357A	probably benign	Het
Lkaaear1	TCTCCAGCTCCAGCTCCAGCTCCAGCTCCAGCTCCAGCTCCAG	TCTCCAGCTCCAGCTCCAGCTCCAGCTCCAGCTCCAGCTCCAGCTCCAG	2: 181,697,561		probably benign	Het
Ly6d	A	T	15: 74,762,450	V97D	probably benign	Het
Map3k13	T	C	16: 21,892,312	I115T	probably benign	Het
Muc2	G	A	7: 141,751,477	V173I	probably benign	Het
Nck2	T	C	1: 43,569,178	S327P	probably benign	Het
Ncoa7	T	C	10: 30,771,721	R20G	probably damaging	Het
Nlrp4f	G	A	13: 65,199,195	T83I	probably benign	Het
Olfr1444	A	G	19: 12,862,650	S292G	probably damaging	Het
Olfr396-ps1	A	G	11: 73,928,113	Y36C	probably damaging	Het
Olfr577	C	T	7: 102,973,713	R93Q	probably benign	Het
Olfr671	C	T	7: 104,975,968	V10I	probably benign	Het
Panx1	T	C	9: 15,008,011	E184G	probably benign	Het
Parp14	T	C	16: 35,834,677	Y1808C	probably damaging	Het
Plcb1	A	T	2: 134,786,593	S21C	probably benign	Het
Ppil6	A	G	10: 41,498,431	N103D	probably benign	Het
Pth1r	C	T	9: 110,727,251		probably null	Het
Rapgef4	A	T	2: 72,054,779		probably benign	Het
Rlf	A	G	4: 121,147,926	S1286P	probably damaging	Het
Rnf217	A	G	10: 31,534,826	V291A	possibly damaging	Het
Serpina3a	T	C	12: 104,119,637	M117T	probably benign	Het
St8sia4	T	C	1: 95,653,699	D106G	probably damaging	Het
Tjp2	A	G	19: 24,120,843	I485T	probably damaging	Het
Trdc	T	C	14: 54,144,235		probably benign	Het
Ttn	A	G	2: 76,710,660	L33994P	probably damaging	Het
Vmn2r42	T	A	7: 8,184,225	K799N	probably damaging	Het
Zfp42	G	A	8: 43,296,056	T136M	possibly damaging	Het
Znhit1	A	T	5: 136,982,633	S109T	probably benign	Het

Other mutations in Nploc4

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02678:Nploc4	APN	11	120389372	missense	probably benign	0.06
IGL03373:Nploc4	APN	11	120409629	nonsense	probably null
P0041:Nploc4	UTSW	11	120418331	missense	probably damaging	1.00
R0200:Nploc4	UTSW	11	120413681	missense	probably damaging	1.00
R0608:Nploc4	UTSW	11	120413681	missense	probably damaging	1.00
R1401:Nploc4	UTSW	11	120383289	splice site	probably benign
R1465:Nploc4	UTSW	11	120408781	missense	probably damaging	0.98
R1465:Nploc4	UTSW	11	120408781	missense	probably damaging	0.98
R1722:Nploc4	UTSW	11	120382569	missense	probably benign	0.02
R1919:Nploc4	UTSW	11	120404229	missense	probably damaging	1.00
R2436:Nploc4	UTSW	11	120418317	missense	possibly damaging	0.79
R4603:Nploc4	UTSW	11	120385787	missense	probably benign	0.00
R4771:Nploc4	UTSW	11	120421434	missense	possibly damaging	0.47
R5179:Nploc4	UTSW	11	120408856	missense	probably benign	0.02
R5361:Nploc4	UTSW	11	120384563	missense	probably damaging	1.00
R5414:Nploc4	UTSW	11	120413643	missense	probably damaging	0.99
R5567:Nploc4	UTSW	11	120384614	missense	probably benign	0.00
R5570:Nploc4	UTSW	11	120384614	missense	probably benign	0.00
R6259:Nploc4	UTSW	11	120385865	missense	probably benign	0.01
R6547:Nploc4	UTSW	11	120428522	critical splice donor site	probably null
R7134:Nploc4	UTSW	11	120385788	missense	probably benign	0.02
R7256:Nploc4	UTSW	11	120428550	missense	probably benign
R7284:Nploc4	UTSW	11	120416370	missense	possibly damaging	0.89
R7386:Nploc4	UTSW	11	120408881	missense	probably benign	0.17
R8130:Nploc4	UTSW	11	120389414	missense	possibly damaging	0.80
R8835:Nploc4	UTSW	11	120418296	missense	possibly damaging	0.95
R9031:Nploc4	UTSW	11	120428542	missense	probably damaging	1.00
R9075:Nploc4	UTSW	11	120413700	missense	possibly damaging	0.49

Predicted Primers

PCR Primer
(F):5'- AAAGCAGCCACCCATGTCTG -3'
(R):5'- TTTGCAGTGACAGCTTCTGAG -3'

Sequencing Primer
(F):5'- ATGTCTGTCCCTTTGCCCAAG -3'
(R):5'- TATCAGCCTGCTGCTAGA -3'

Posted On

2018-07-23