Mutagenetix > Incidental Mutation

Incidental Mutation 'R0027:Nopchap1'

18671

Institutional Source

Beutler Lab

Gene Symbol

Nopchap1

Ensembl Gene

ENSMUSG00000020255

Gene Name

NOP protein chaperone 1

Synonyms

C430041I18Rik, D10Wsu102e

MMRRC Submission

038322-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.861) question?

Stock #

R0027 (G1) of strain 730

Quality Score

Status

Validated

Chromosome

Chromosomal Location

83196085-83204699 bp(+) (GRCm39)

Type of Mutation

splice site

DNA Base Change (assembly)

G to A at 83200393 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000020488 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000020488]

AlphaFold

Q9CX66

Predicted Effect

probably benign
Transcript: ENSMUST00000020488

SMART Domains

Protein: ENSMUSP00000020488
Gene: ENSMUSG00000020255

Domain	Start	End	E-Value	Type
Pfam:DUF4598	68	175	1.9e-19	PFAM

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 77.1%
3x: 64.8%
10x: 37.0%
20x: 19.3%

Validation Efficiency

92% (60/65)

Allele List at MGI

Other mutations in this stock

Total: 18 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adamts12	A	T	15: 11,285,959 (GRCm39)	I723F	probably damaging	Het
Anapc1	G	T	2: 128,483,431 (GRCm39)	D1221E	possibly damaging	Het
Arhgef28	T	A	13: 98,082,204 (GRCm39)	E1201V	possibly damaging	Het
Cdkl3	C	T	11: 51,923,176 (GRCm39)		probably benign	Het
Col1a2	G	A	6: 4,518,822 (GRCm39)		probably benign	Het
Fam131b	T	A	6: 42,295,182 (GRCm39)	M304L	probably benign	Het
Ints15	G	A	5: 143,293,817 (GRCm39)	T220I	probably damaging	Het
Kif11	C	T	19: 37,395,431 (GRCm39)		probably benign	Het
Lrpprc	G	A	17: 85,074,435 (GRCm39)	R491*	probably null	Het
Mbtd1	T	C	11: 93,815,375 (GRCm39)	V321A	possibly damaging	Het
Mon2	G	A	10: 122,871,953 (GRCm39)	S357L	possibly damaging	Het
Papola	A	C	12: 105,799,395 (GRCm39)	S675R	probably benign	Het
Pcdh9	T	A	14: 94,126,081 (GRCm39)	I30F	probably null	Het
Prl6a1	T	A	13: 27,502,011 (GRCm39)	L126Q	probably damaging	Het
Rad9b	A	G	5: 122,489,786 (GRCm39)		probably benign	Het
Snrnp40	T	A	4: 130,262,066 (GRCm39)	H151Q	probably damaging	Het
Stard9	A	T	2: 120,533,982 (GRCm39)	Q3413L	probably benign	Het
Ubr4	C	A	4: 139,127,704 (GRCm39)	N567K	probably damaging	Het

Other mutations in Nopchap1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02737:Nopchap1	APN	10	83,200,309 (GRCm39)	missense	probably damaging	1.00
IGL03374:Nopchap1	APN	10	83,201,571 (GRCm39)	missense	probably damaging	1.00
R0027:Nopchap1	UTSW	10	83,200,393 (GRCm39)	splice site	probably benign
R0502:Nopchap1	UTSW	10	83,197,920 (GRCm39)	missense	probably damaging	0.97
R0607:Nopchap1	UTSW	10	83,197,961 (GRCm39)	missense	probably benign	0.06
R2109:Nopchap1	UTSW	10	83,201,656 (GRCm39)	missense	probably damaging	1.00
R7371:Nopchap1	UTSW	10	83,201,680 (GRCm39)	missense	probably benign
R9386:Nopchap1	UTSW	10	83,196,129 (GRCm39)	missense	probably benign

Posted On

2013-03-25