Mutagenetix > Incidental Mutation

Incidental Mutation 'R0200:Nploc4'

23590

Institutional Source

Beutler Lab

Gene Symbol

Nploc4

Ensembl Gene

ENSMUSG00000039703

Gene Name

NPL4 homolog, ubiquitin recognition factor

Synonyms

MMRRC Submission

038457-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R0200 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

120380370-120437708 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 120413681 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Proline at position 238 (L238P)

Ref Sequence

ENSEMBL: ENSMUSP00000099306 (fasta)

Gene Model

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

AlphaFold

P60670

Predicted Effect

probably damaging
Transcript: ENSMUST00000044271
AA Change: L238P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000035851
Gene: ENSMUSG00000039703
AA Change: L238P

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: L238P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000099306
Gene: ENSMUSG00000039703
AA Change: L238P

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: ENSMUST00000132519

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000136095

Coding Region Coverage

1x: 98.8%
3x: 97.8%
10x: 94.7%
20x: 86.2%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 86 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A730017C20Rik	A	G	18: 59,062,459		probably null	Het
Aatf	T	C	11: 84,445,676	K466E	probably damaging	Het
Abcc3	T	C	11: 94,355,074	D1245G	probably damaging	Het
Adam12	T	C	7: 133,974,416		probably null	Het
Akap11	A	G	14: 78,510,753	V1398A	probably benign	Het
Ank1	T	G	8: 23,096,812	L461R	probably damaging	Het
Ankfn1	T	C	11: 89,441,966	S402G	possibly damaging	Het
Arhgef40	A	C	14: 51,996,974	E911D	probably damaging	Het
Atp2b1	C	T	10: 98,979,814	Q107*	probably null	Het
BC117090	T	C	16: 36,323,024		probably null	Het
Cacng3	T	A	7: 122,671,785	C4*	probably null	Het
Ccdc129	T	C	6: 55,897,956	L297P	probably benign	Het
Cds1	G	A	5: 101,814,433	V305M	probably damaging	Het
Cecr2	T	G	6: 120,761,797	F1162V	probably damaging	Het
Cfap70	A	T	14: 20,448,563	Y19N	probably damaging	Het
Chrm5	A	G	2: 112,480,720	V17A	probably benign	Het
Col20a1	T	C	2: 181,000,438	I714T	probably damaging	Het
Cpeb2	T	A	5: 43,261,776	M156K	possibly damaging	Het
Defb25	C	A	2: 152,622,412	V71L	probably benign	Het
Dhx35	A	T	2: 158,829,623	M325L	probably benign	Het
Dhx57	A	T	17: 80,251,473	L1019H	probably damaging	Het
Dnah6	T	A	6: 73,069,420	D3195V	probably damaging	Het
Dph5	A	G	3: 115,928,703	S277G	probably benign	Het
Dpm1	C	A	2: 168,223,155		probably null	Het
Dsg1a	A	T	18: 20,340,938	M1023L	probably benign	Het
Egf	A	G	3: 129,706,233	Y252H	probably benign	Het
Egf	A	G	3: 129,737,549	S126P	probably damaging	Het
Enam	T	C	5: 88,493,027	W183R	possibly damaging	Het
Foxn1	T	C	11: 78,361,040	Y455C	probably damaging	Het
Gm14085	T	A	2: 122,527,447	*661R	probably null	Het
Iars	A	T	13: 49,726,202	D983V	possibly damaging	Het
Ikzf4	C	A	10: 128,634,676	G325V	probably damaging	Het
Il1rl1	T	A	1: 40,441,303	W31R	possibly damaging	Het
Ip6k3	C	T	17: 27,145,025	D350N	probably damaging	Het
Irgc1	T	C	7: 24,432,006	D462G	probably benign	Het
Jph3	A	G	8: 121,784,833	E520G	probably benign	Het
Kcna2	T	A	3: 107,105,160	D352E	probably benign	Het
Klk4	T	A	7: 43,885,361	I248N	probably damaging	Het
Krtap16-1	T	C	11: 99,985,297	Y427C	probably damaging	Het
Lgr4	A	G	2: 109,970,690		probably null	Het
Lhpp	C	T	7: 132,610,677		probably benign	Het
Lypd3	T	A	7: 24,640,231	V241D	probably damaging	Het
Lyz2	T	A	10: 117,280,773	N57Y	possibly damaging	Het
Man1a	A	G	10: 54,074,498	V176A	probably damaging	Het
Mcm4	G	A	16: 15,629,639	T487I	probably benign	Het
Mettl21c	T	A	1: 44,013,654	I68F	probably damaging	Het
Miip	T	A	4: 147,862,263	T313S	probably damaging	Het
Mog	A	T	17: 37,012,419	I209K	probably damaging	Het
Myo1c	C	A	11: 75,672,182	D997E	probably benign	Het
Npc1	T	C	18: 12,219,204	Y146C	probably damaging	Het
Olfr231	T	C	1: 174,117,512	H168R	probably benign	Het
Olfr531	T	C	7: 140,400,875	Y57C	probably damaging	Het
Olfr56	T	A	11: 49,135,047	M285K	probably damaging	Het
Opa1	A	G	16: 29,614,129	N544S	probably benign	Het
Pam	C	T	1: 97,894,401		probably null	Het
Pdgfra	T	C	5: 75,163,777	Y98H	probably damaging	Het
Plcz1	C	T	6: 139,990,733	R590H	probably damaging	Het
Plxdc1	T	C	11: 97,934,012	Y339C	probably damaging	Het
Plxna1	T	C	6: 89,323,593	N1583S	probably damaging	Het
Plxna4	C	T	6: 32,197,088	V1191M	probably damaging	Het
Polk	T	A	13: 96,496,822	N238Y	probably benign	Het
Ptprq	T	C	10: 107,685,157	N718S	probably benign	Het
Rsrc1	A	T	3: 67,180,861	H176L	probably damaging	Het
Sbno1	T	C	5: 124,384,541	D1072G	probably damaging	Het
Scmh1	A	G	4: 120,483,831	K238R	probably damaging	Het
Senp7	A	G	16: 56,123,873	T187A	possibly damaging	Het
Slc12a4	T	C	8: 105,951,617	R315G	probably benign	Het
Slc16a10	A	G	10: 40,040,616	V430A	probably benign	Het
Slc26a7	T	C	4: 14,621,317	D23G	probably benign	Het
Slc7a7	A	G	14: 54,377,802	L246P	probably damaging	Het
Spata7	T	A	12: 98,663,169	S332T	probably benign	Het
Spsb1	A	G	4: 149,898,216	*274R	probably null	Het
Sspo	T	G	6: 48,486,415	V3767G	probably null	Het
Syt10	C	A	15: 89,826,941	A130S	probably benign	Het
Tgm6	T	A	2: 130,152,945		probably null	Het
Them7	A	C	2: 105,297,917	N81T	probably damaging	Het
Tinag	C	A	9: 76,951,935	A464S	probably damaging	Het
Tmem217	T	G	17: 29,526,310	I149L	probably benign	Het
Trp53rkb	T	G	2: 166,795,683	D186E	probably damaging	Het
Vmn1r20	T	C	6: 57,432,099	Y137H	probably damaging	Het
Vmn1r60	T	A	7: 5,544,380	L240F	probably benign	Het
Vmn1r64	A	G	7: 5,883,818	M242T	probably benign	Het
Xkr4	T	C	1: 3,670,663	N229S	probably benign	Het
Zcchc2	T	A	1: 106,004,123	L352M	probably damaging	Het
Zfp217	C	T	2: 170,115,462	A539T	probably benign	Het
Zfp638	T	C	6: 83,967,354	L1018P	probably damaging	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
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
R6683:Nploc4	UTSW	11	120383330	missense	probably damaging	0.98
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'- TTACACCCAGGCCCTGCACT -3'
(R):5'- GCTAGGTAAGCCATCGATCCACCA -3'

Sequencing Primer
(F):5'- TGCACTCTGCACTCACG -3'
(R):5'- atacacacaagcaaaactcctac -3'

Posted On

2013-04-16