Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL03392:Cpsf6'

421093

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Cpsf6

Ensembl Gene

ENSMUSG00000055531

Gene Name

cleavage and polyadenylation specific factor 6

Synonyms

HPBRII-4, HPBRII-7, 4733401N12Rik, CFIM68

Accession Numbers

Essential gene?

Probably essential (E-score: 0.939) question?

Stock #

IGL03392

Quality Score

Status

Chromosome

Chromosomal Location

117180572-117212903 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 117203884 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Asparagine at position 23 (Y23N)

Ref Sequence

ENSEMBL: ENSMUSP00000135848 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000069168] [ENSMUST00000175924] [ENSMUST00000176670] [ENSMUST00000176686] [ENSMUST00000177145]

AlphaFold

Q6NVF9

Predicted Effect

unknown
Transcript: ENSMUST00000069168
AA Change: Y24N

SMART Domains

Protein: ENSMUSP00000068408
Gene: ENSMUSG00000055531
AA Change: Y24N

Domain	Start	End	E-Value	Type
RRM	82	157	8.79e-11	SMART
low complexity region	182	365	N/A	INTRINSIC
low complexity region	376	400	N/A	INTRINSIC
low complexity region	422	438	N/A	INTRINSIC
low complexity region	489	551	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000175924
AA Change: Y23N

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000135848
Gene: ENSMUSG00000055531
AA Change: Y23N

Domain	Start	End	E-Value	Type
PDB:3Q2T\|D	19	91	3e-48	PDB

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000176567

Predicted Effect

unknown
Transcript: ENSMUST00000176670
AA Change: Y24N

SMART Domains

Protein: ENSMUSP00000135150
Gene: ENSMUSG00000055531
AA Change: Y24N

Domain	Start	End	E-Value	Type
RRM	82	157	8.79e-11	SMART
low complexity region	182	232	N/A	INTRINSIC
low complexity region	273	402	N/A	INTRINSIC
low complexity region	413	437	N/A	INTRINSIC
low complexity region	459	475	N/A	INTRINSIC
low complexity region	526	588	N/A	INTRINSIC

Predicted Effect

unknown
Transcript: ENSMUST00000176686
AA Change: Y24N

SMART Domains

Protein: ENSMUSP00000134823
Gene: ENSMUSG00000055531
AA Change: Y24N

Domain	Start	End	E-Value	Type
RRM	82	157	8.79e-11	SMART
low complexity region	182	365	N/A	INTRINSIC
low complexity region	376	400	N/A	INTRINSIC
low complexity region	422	438	N/A	INTRINSIC
low complexity region	489	552	N/A	INTRINSIC

Predicted Effect

unknown
Transcript: ENSMUST00000177145
AA Change: Y24N

SMART Domains

Protein: ENSMUSP00000135136
Gene: ENSMUSG00000055531
AA Change: Y24N

Domain	Start	End	E-Value	Type
RRM	82	157	8.79e-11	SMART
low complexity region	182	365	N/A	INTRINSIC
low complexity region	376	400	N/A	INTRINSIC
low complexity region	422	438	N/A	INTRINSIC
low complexity region	489	551	N/A	INTRINSIC

Coding Region Coverage

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is one subunit of a cleavage factor required for 3' RNA cleavage and polyadenylation processing. The interaction of the protein with the RNA is one of the earliest steps in the assembly of the 3' end processing complex and facilitates the recruitment of other processing factors. The cleavage factor complex is composed of four polypeptides. This gene encodes the 68kD subunit. It has a domain organization reminiscent of spliceosomal proteins. [provided by RefSeq, Jul 2008]

Allele List at MGI

Other mutations in this stock

Total: 44 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acss2	T	A	2: 155,403,931 (GRCm39)	D692E	probably damaging	Het
Adgrb3	T	A	1: 25,543,529 (GRCm39)	R366S	probably damaging	Het
Afg3l2	C	A	18: 67,547,139 (GRCm39)		probably benign	Het
Cd5	T	C	19: 10,703,653 (GRCm39)		probably benign	Het
Cnbd1	A	G	4: 18,862,111 (GRCm39)	S360P	probably damaging	Het
Col13a1	A	T	10: 61,721,490 (GRCm39)	L305I	possibly damaging	Het
Commd7	A	T	2: 153,464,684 (GRCm39)		probably benign	Het
Cry1	A	G	10: 84,992,993 (GRCm39)	V75A	possibly damaging	Het
Cyp2c39	A	G	19: 39,501,767 (GRCm39)	N107D	probably benign	Het
Dcaf11	T	A	14: 55,798,878 (GRCm39)	V45E	probably damaging	Het
Dnm2	A	G	9: 21,385,907 (GRCm39)	E310G	probably damaging	Het
Fat3	T	A	9: 15,915,158 (GRCm39)	I1597L	probably benign	Het
Fcamr	A	G	1: 130,728,685 (GRCm39)		probably benign	Het
Fer	A	G	17: 64,298,637 (GRCm39)	I529V	probably damaging	Het
Fhdc1	T	C	3: 84,351,826 (GRCm39)	K1133R	possibly damaging	Het
Foxd3	A	G	4: 99,545,432 (GRCm39)	K191E	probably damaging	Het
Fut2	C	T	7: 45,300,193 (GRCm39)	G193E	possibly damaging	Het
Gbp8	A	G	5: 105,164,410 (GRCm39)		probably null	Het
Glb1	T	G	9: 114,259,389 (GRCm39)	N106K	probably damaging	Het
Hpx	A	G	7: 105,241,609 (GRCm39)	I295T	probably damaging	Het
Ipo5	T	A	14: 121,180,099 (GRCm39)	D844E	probably damaging	Het
Krt17	T	C	11: 100,150,561 (GRCm39)	I159V	possibly damaging	Het
Lgi4	G	A	7: 30,762,605 (GRCm39)		probably null	Het
Lrrc49	T	C	9: 60,573,563 (GRCm39)		probably benign	Het
Ltn1	T	C	16: 87,222,499 (GRCm39)	K178R	probably damaging	Het
Myh8	T	A	11: 67,185,244 (GRCm39)	W832R	probably damaging	Het
Nbn	A	G	4: 15,962,362 (GRCm39)	N30S	probably damaging	Het
Or2j3	A	G	17: 38,615,786 (GRCm39)	S189P	probably benign	Het
Or4a72	A	T	2: 89,405,593 (GRCm39)	V159D	probably damaging	Het
Or4f59	T	A	2: 111,873,321 (GRCm39)	N19Y	probably benign	Het
Or51ai2	T	C	7: 103,587,232 (GRCm39)	V215A	probably benign	Het
Pcdh15	A	T	10: 74,460,104 (GRCm39)	I1314F	probably damaging	Het
Phf14	G	A	6: 11,962,658 (GRCm39)	S435N	probably damaging	Het
Prss45	T	A	9: 110,669,618 (GRCm39)	Y231*	probably null	Het
Pus7l	T	C	15: 94,434,449 (GRCm39)	D339G	probably damaging	Het
Sbk2	A	G	7: 4,960,408 (GRCm39)	F254S	probably damaging	Het
Serpina1b	T	G	12: 103,698,329 (GRCm39)	K173N	possibly damaging	Het
Slc13a5	G	A	11: 72,136,004 (GRCm39)	T469I	probably damaging	Het
Spon1	A	G	7: 113,633,522 (GRCm39)	E655G	probably damaging	Het
Sv2b	T	C	7: 74,806,508 (GRCm39)		probably null	Het
Treh	A	G	9: 44,597,228 (GRCm39)	D514G	probably damaging	Het
Umodl1	T	A	17: 31,215,329 (GRCm39)	L1051Q	probably damaging	Het
Usp5	A	G	6: 124,803,350 (GRCm39)	F4S	probably damaging	Het
Vmn1r16	A	G	6: 57,299,879 (GRCm39)	S248P	probably damaging	Het

Other mutations in Cpsf6

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00504:Cpsf6	APN	10	117,202,034 (GRCm39)	unclassified	probably benign
IGL03018:Cpsf6	APN	10	117,203,861 (GRCm39)	missense	probably benign	0.02
R1006:Cpsf6	UTSW	10	117,201,973 (GRCm39)	splice site	probably benign
R1239:Cpsf6	UTSW	10	117,197,248 (GRCm39)	unclassified	probably benign
R1611:Cpsf6	UTSW	10	117,197,733 (GRCm39)	intron	probably benign
R2041:Cpsf6	UTSW	10	117,195,033 (GRCm39)	missense	probably damaging	0.99
R2117:Cpsf6	UTSW	10	117,202,025 (GRCm39)	unclassified	probably benign
R2225:Cpsf6	UTSW	10	117,198,941 (GRCm39)	unclassified	probably benign
R4752:Cpsf6	UTSW	10	117,197,273 (GRCm39)	splice site	probably benign
R5001:Cpsf6	UTSW	10	117,203,866 (GRCm39)	missense	possibly damaging	0.71
R5176:Cpsf6	UTSW	10	117,197,189 (GRCm39)	unclassified	probably benign
R5393:Cpsf6	UTSW	10	117,197,921 (GRCm39)	unclassified	probably benign
R5696:Cpsf6	UTSW	10	117,196,934 (GRCm39)	unclassified	probably benign
R7216:Cpsf6	UTSW	10	117,197,928 (GRCm39)	missense	unknown
R7226:Cpsf6	UTSW	10	117,197,727 (GRCm39)	missense	unknown
R7522:Cpsf6	UTSW	10	117,203,734 (GRCm39)	missense	unknown
Z1088:Cpsf6	UTSW	10	117,191,946 (GRCm39)	missense	unknown

Posted On

2016-08-02