Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02678:Nploc4'

303260

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Nploc4

Ensembl Gene

ENSMUSG00000039703

Gene Name

NPL4 homolog, ubiquitin recognition factor

Synonyms

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

IGL02678

Quality Score

Status

Chromosome

Chromosomal Location

120271196-120328534 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 120280198 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Threonine at position 450 (I450T)

Ref Sequence

ENSEMBL: ENSMUSP00000099306 (fasta)

Gene Model

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

AlphaFold

P60670

Predicted Effect

probably benign
Transcript: ENSMUST00000044271
AA Change: I450T

PolyPhen 2 Score 0.057 (Sensitivity: 0.94; Specificity: 0.84)

SMART Domains

Protein: ENSMUSP00000035851
Gene: ENSMUSG00000039703
AA Change: I450T

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: I450T

PolyPhen 2 Score 0.057 (Sensitivity: 0.94; Specificity: 0.84)

SMART Domains

Protein: ENSMUSP00000099306
Gene: ENSMUSG00000039703
AA Change: I450T

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

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 57 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aasdh	A	G	5: 77,035,867 (GRCm39)		probably benign	Het
Adgrb1	A	G	15: 74,410,177 (GRCm39)	E272G	probably damaging	Het
Alcam	G	A	16: 52,094,401 (GRCm39)	P416S	probably damaging	Het
B3galt1	A	G	2: 67,949,254 (GRCm39)	H323R	probably benign	Het
Bahcc1	G	A	11: 120,163,697 (GRCm39)	S665N	probably damaging	Het
Birc6	T	C	17: 74,956,898 (GRCm39)	S3631P	probably damaging	Het
Capn3	A	C	2: 120,333,479 (GRCm39)	N621T	probably damaging	Het
Cblif	T	C	19: 11,725,839 (GRCm39)	M43T	probably damaging	Het
Ccdc162	G	A	10: 41,437,151 (GRCm39)	H480Y	probably damaging	Het
Ccr2	T	A	9: 123,906,783 (GRCm39)	D354E	probably benign	Het
Cdc42bpb	T	G	12: 111,292,530 (GRCm39)	D335A	probably damaging	Het
Cdcp3	A	G	7: 130,830,646 (GRCm39)	Y360C	probably damaging	Het
Chrd	G	T	16: 20,552,770 (GRCm39)	R89L	probably damaging	Het
Cops2	T	C	2: 125,686,831 (GRCm39)	R91G	probably benign	Het
Ddi1	T	C	9: 6,266,106 (GRCm39)	T88A	probably benign	Het
Dnai1	A	C	4: 41,602,917 (GRCm39)	E140A	probably benign	Het
Eif1ad17	C	A	12: 87,978,946 (GRCm39)	P110Q	possibly damaging	Het
Gcn1	A	G	5: 115,751,814 (GRCm39)	D2063G	probably damaging	Het
Gdpd4	A	T	7: 97,623,584 (GRCm39)		probably benign	Het
Gng7	C	A	10: 80,787,518 (GRCm39)	L48F	probably damaging	Het
Htt	G	T	5: 35,057,246 (GRCm39)	C2725F	probably damaging	Het
Inpp4b	A	G	8: 82,583,373 (GRCm39)	K159R	probably damaging	Het
Insr	G	T	8: 3,223,570 (GRCm39)	N854K	probably benign	Het
Ktn1	A	T	14: 47,971,610 (GRCm39)		probably null	Het
Lcat	A	G	8: 106,668,572 (GRCm39)		probably null	Het
Mb21d2	T	C	16: 28,646,801 (GRCm39)	E391G	probably benign	Het
Mms19	A	G	19: 41,942,915 (GRCm39)	S354P	possibly damaging	Het
Mx2	G	A	16: 97,357,320 (GRCm39)		probably null	Het
Mycl	G	A	4: 122,893,776 (GRCm39)	R192Q	probably damaging	Het
Mzf1	A	G	7: 12,786,836 (GRCm39)	V78A	probably benign	Het
Nipbl	G	T	15: 8,380,594 (GRCm39)	P733T	possibly damaging	Het
Omd	A	T	13: 49,745,757 (GRCm39)	E389V	probably benign	Het
Or8g30	C	T	9: 39,230,217 (GRCm39)	S231N	probably benign	Het
Oxgr1	A	G	14: 120,259,580 (GRCm39)	L209P	probably damaging	Het
Pak1	A	C	7: 97,543,209 (GRCm39)	T291P	probably damaging	Het
Pcmtd1	T	A	1: 7,240,045 (GRCm39)	I338K	probably damaging	Het
Phrf1	A	G	7: 140,840,195 (GRCm39)	D364G	probably damaging	Het
Pomk	G	A	8: 26,473,135 (GRCm39)	P273S	probably damaging	Het
Psg22	A	T	7: 18,453,418 (GRCm39)	I38F	probably damaging	Het
Rbks	G	T	5: 31,830,757 (GRCm39)	T42N	probably damaging	Het
Rrbp1	A	G	2: 143,832,107 (GRCm39)	V20A	probably damaging	Het
Six4	T	C	12: 73,159,408 (GRCm39)	Y176C	probably damaging	Het
Slc11a2	T	A	15: 100,310,081 (GRCm39)	M9L	possibly damaging	Het
Slc16a11	T	C	11: 70,106,242 (GRCm39)	L112S	probably damaging	Het
Slc25a28	A	T	19: 43,655,586 (GRCm39)		probably benign	Het
Slc30a3	G	A	5: 31,245,676 (GRCm39)	R237*	probably null	Het
Slco1a8	A	T	6: 141,954,444 (GRCm39)	Y10N	probably damaging	Het
Smc1b	G	A	15: 84,949,201 (GRCm39)	R1237*	probably null	Het
Smtn	T	C	11: 3,476,353 (GRCm39)	E585G	possibly damaging	Het
Spatc1	A	T	15: 76,176,572 (GRCm39)	D441V	probably damaging	Het
Tenm4	A	G	7: 96,545,426 (GRCm39)	N2481D	probably damaging	Het
Tnks2	A	T	19: 36,823,143 (GRCm39)	I137F	possibly damaging	Het
Trip11	T	C	12: 101,849,649 (GRCm39)	K1472E	probably damaging	Het
Ttn	C	A	2: 76,708,660 (GRCm39)	E1846*	probably null	Het
Vwa8	A	G	14: 79,221,640 (GRCm39)	D532G	probably damaging	Het
Zfp268	A	T	4: 145,349,067 (GRCm39)	H168L	probably damaging	Het
Zfp977	G	A	7: 42,232,419 (GRCm39)	T14I	probably damaging	Het

Other mutations in Nploc4

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL03373:Nploc4	APN	11	120,300,455 (GRCm39)	nonsense	probably null
P0041:Nploc4	UTSW	11	120,309,157 (GRCm39)	missense	probably damaging	1.00
R0200:Nploc4	UTSW	11	120,304,507 (GRCm39)	missense	probably damaging	1.00
R0608:Nploc4	UTSW	11	120,304,507 (GRCm39)	missense	probably damaging	1.00
R1401:Nploc4	UTSW	11	120,274,115 (GRCm39)	splice site	probably benign
R1465:Nploc4	UTSW	11	120,299,607 (GRCm39)	missense	probably damaging	0.98
R1465:Nploc4	UTSW	11	120,299,607 (GRCm39)	missense	probably damaging	0.98
R1722:Nploc4	UTSW	11	120,273,395 (GRCm39)	missense	probably benign	0.02
R1919:Nploc4	UTSW	11	120,295,055 (GRCm39)	missense	probably damaging	1.00
R2436:Nploc4	UTSW	11	120,309,143 (GRCm39)	missense	possibly damaging	0.79
R4603:Nploc4	UTSW	11	120,276,613 (GRCm39)	missense	probably benign	0.00
R4771:Nploc4	UTSW	11	120,312,260 (GRCm39)	missense	possibly damaging	0.47
R5179:Nploc4	UTSW	11	120,299,682 (GRCm39)	missense	probably benign	0.02
R5361:Nploc4	UTSW	11	120,275,389 (GRCm39)	missense	probably damaging	1.00
R5414:Nploc4	UTSW	11	120,304,469 (GRCm39)	missense	probably damaging	0.99
R5567:Nploc4	UTSW	11	120,275,440 (GRCm39)	missense	probably benign	0.00
R5570:Nploc4	UTSW	11	120,275,440 (GRCm39)	missense	probably benign	0.00
R6259:Nploc4	UTSW	11	120,276,691 (GRCm39)	missense	probably benign	0.01
R6547:Nploc4	UTSW	11	120,319,348 (GRCm39)	critical splice donor site	probably null
R6683:Nploc4	UTSW	11	120,274,156 (GRCm39)	missense	probably damaging	0.98
R7134:Nploc4	UTSW	11	120,276,614 (GRCm39)	missense	probably benign	0.02
R7256:Nploc4	UTSW	11	120,319,376 (GRCm39)	missense	probably benign
R7284:Nploc4	UTSW	11	120,307,196 (GRCm39)	missense	possibly damaging	0.89
R7386:Nploc4	UTSW	11	120,299,707 (GRCm39)	missense	probably benign	0.17
R8130:Nploc4	UTSW	11	120,280,240 (GRCm39)	missense	possibly damaging	0.80
R8835:Nploc4	UTSW	11	120,309,122 (GRCm39)	missense	possibly damaging	0.95
R9031:Nploc4	UTSW	11	120,319,368 (GRCm39)	missense	probably damaging	1.00
R9075:Nploc4	UTSW	11	120,304,526 (GRCm39)	missense	possibly damaging	0.49

Posted On

2015-04-16