Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL03374:Nopchap1'

420425

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Nopchap1

Ensembl Gene

ENSMUSG00000020255

Gene Name

NOP protein chaperone 1

Synonyms

C430041I18Rik, D10Wsu102e

Accession Numbers

Essential gene?

Probably essential (E-score: 0.842) question?

Stock #

IGL03374

Quality Score

Status

Chromosome

Chromosomal Location

83196085-83204699 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 83201571 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Methionine at position 115 (V115M)

Ref Sequence

ENSEMBL: ENSMUSP00000020488 (fasta)

Gene Model

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

AlphaFold

Q9CX66

Predicted Effect

probably damaging
Transcript: ENSMUST00000020488
AA Change: V115M

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

SMART Domains

Protein: ENSMUSP00000020488
Gene: ENSMUSG00000020255
AA Change: V115M

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

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 32 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aox3	G	A	1: 58,211,007 (GRCm39)	R917Q	probably damaging	Het
Atl1	T	C	12: 70,002,141 (GRCm39)	Y367H	probably damaging	Het
AW551984	T	C	9: 39,511,062 (GRCm39)	E175G	possibly damaging	Het
Cacna2d1	T	A	5: 16,561,821 (GRCm39)	D800E	probably damaging	Het
Cdon	T	A	9: 35,389,299 (GRCm39)	F801L	possibly damaging	Het
Dcaf13	C	T	15: 39,008,543 (GRCm39)	Q382*	probably null	Het
Dpy19l3	T	C	7: 35,411,633 (GRCm39)	N367S	possibly damaging	Het
F11	A	G	8: 45,714,111 (GRCm39)	S3P	possibly damaging	Het
Fhip1b	T	C	7: 105,033,158 (GRCm39)	E57G	probably damaging	Het
Fryl	A	T	5: 73,267,624 (GRCm39)		probably benign	Het
Gcnt3	A	T	9: 69,941,695 (GRCm39)	M291K	possibly damaging	Het
Glg1	T	C	8: 111,889,412 (GRCm39)	D927G	probably damaging	Het
Gm5862	C	A	5: 26,224,510 (GRCm39)	R153L	probably damaging	Het
Gucy2c	T	C	6: 136,742,628 (GRCm39)	T237A	probably benign	Het
Helz	A	T	11: 107,510,973 (GRCm39)	I610F	probably damaging	Het
Hpd	T	C	5: 123,310,108 (GRCm39)	E372G	probably damaging	Het
Hsd17b13	A	G	5: 104,124,964 (GRCm39)		probably benign	Het
Klhl32	G	A	4: 24,649,533 (GRCm39)		probably benign	Het
Krt74	T	A	15: 101,668,937 (GRCm39)		noncoding transcript	Het
Or14a258	T	A	7: 86,035,574 (GRCm39)	Q98L	probably damaging	Het
Or9g4b	T	C	2: 85,616,053 (GRCm39)	L66P	probably damaging	Het
Phyhipl	A	G	10: 70,401,109 (GRCm39)	V163A	possibly damaging	Het
Pknox2	T	A	9: 36,834,966 (GRCm39)	T168S	probably damaging	Het
Pmfbp1	T	C	8: 110,269,046 (GRCm39)		probably benign	Het
Sgce	G	A	6: 4,689,718 (GRCm39)	R372*	probably null	Het
Stard5	T	C	7: 83,285,980 (GRCm39)	S102P	possibly damaging	Het
Syne2	A	G	12: 76,121,360 (GRCm39)	K5941R	possibly damaging	Het
Tas2r124	A	T	6: 132,732,081 (GRCm39)	H130L	probably benign	Het
Ttn	T	C	2: 76,546,027 (GRCm39)	E32462G	probably damaging	Het
Tut4	T	C	4: 108,415,974 (GRCm39)	S1647P	probably damaging	Het
Ube2d3	A	G	3: 135,165,844 (GRCm39)		probably null	Het
Vps13d	G	T	4: 144,835,145 (GRCm39)	H1561Q	possibly 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
R0027:Nopchap1	UTSW	10	83,200,393 (GRCm39)	splice site	probably benign
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

2016-08-02