Mutagenetix > Incidental Mutation

Incidental Mutation 'R2225:Cpsf6'

239682

Institutional Source

Beutler Lab

Gene Symbol

Cpsf6

Ensembl Gene

ENSMUSG00000055531

Gene Name

cleavage and polyadenylation specific factor 6

Synonyms

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

MMRRC Submission

040226-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.946) question?

Stock #

R2225 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

117180572-117212903 bp(-) (GRCm39)

Type of Mutation

unclassified

DNA Base Change (assembly)

A to T at 117198941 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000135550 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000069168] [ENSMUST00000175924] [ENSMUST00000176480] [ENSMUST00000176670] [ENSMUST00000176686] [ENSMUST00000177145]

AlphaFold

Q6NVF9

Predicted Effect

unknown
Transcript: ENSMUST00000069168
AA Change: S153R

SMART Domains

Protein: ENSMUSP00000068408
Gene: ENSMUSG00000055531
AA Change: S153R

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 benign
Transcript: ENSMUST00000175924

SMART Domains

Protein: ENSMUSP00000135848
Gene: ENSMUSG00000055531

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

Predicted Effect

probably benign
Transcript: ENSMUST00000176480

SMART Domains

Protein: ENSMUSP00000135550
Gene: ENSMUSG00000055531

Domain	Start	End	E-Value	Type
low complexity region	6	30	N/A	INTRINSIC
low complexity region	52	68	N/A	INTRINSIC
low complexity region	119	182	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000176567

Predicted Effect

unknown
Transcript: ENSMUST00000176670
AA Change: S153R

SMART Domains

Protein: ENSMUSP00000135150
Gene: ENSMUSG00000055531
AA Change: S153R

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: S153R

SMART Domains

Protein: ENSMUSP00000134823
Gene: ENSMUSG00000055531
AA Change: S153R

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: S153R

SMART Domains

Protein: ENSMUSP00000135136
Gene: ENSMUSG00000055531
AA Change: S153R

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

Meta Mutation Damage Score

0.0589

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.2%
20x: 94.8%

Validation Efficiency

100% (56/56)

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: 54 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abtb1	A	C	6: 88,813,349 (GRCm39)	L439R	probably damaging	Het
Adcy10	A	G	1: 165,345,829 (GRCm39)	T293A	probably damaging	Het
Aen	C	A	7: 78,552,199 (GRCm39)	T15K	probably benign	Het
Aggf1	A	G	13: 95,507,354 (GRCm39)	S144P	probably damaging	Het
Akap9	A	T	5: 4,127,271 (GRCm39)	R3706S	probably damaging	Het
Btd	A	G	14: 31,389,017 (GRCm39)	D246G	probably benign	Het
Ccdc33	A	G	9: 57,989,305 (GRCm39)	S123P	probably damaging	Het
Cep152	T	C	2: 125,423,704 (GRCm39)	E899G	probably damaging	Het
Crybg3	A	G	16: 59,375,041 (GRCm39)	I2071T	probably damaging	Het
Cwc22	T	A	2: 77,738,495 (GRCm39)		probably benign	Het
Ddah2	T	A	17: 35,279,187 (GRCm39)	I16N	probably damaging	Het
Dld	T	G	12: 31,391,448 (GRCm39)	M123L	probably benign	Het
Eif5b	A	T	1: 38,058,304 (GRCm39)	K202I	unknown	Het
Gm6430	T	C	1: 96,953,441 (GRCm39)		noncoding transcript	Het
Hdac9	C	T	12: 34,457,801 (GRCm39)	V251I	probably benign	Het
Hoxa10	T	C	6: 52,209,616 (GRCm39)	E52G	probably damaging	Het
Hspa4	C	T	11: 53,177,760 (GRCm39)	V117M	probably benign	Het
Htra4	T	C	8: 25,515,736 (GRCm39)	D434G	probably benign	Het
Itgb3	A	G	11: 104,556,336 (GRCm39)	M726V	probably benign	Het
Itih1	A	G	14: 30,651,534 (GRCm39)	V886A	possibly damaging	Het
Kdm1b	TCATTGTCC	TCATTGTCCATTGTCC	13: 47,217,564 (GRCm39)		probably null	Het
Kpna1	G	A	16: 35,851,591 (GRCm39)	A392T	probably damaging	Het
Limk1	G	T	5: 134,690,410 (GRCm39)		probably null	Het
Lonrf1	T	C	8: 36,703,252 (GRCm39)	D308G	probably damaging	Het
Muc4	A	T	16: 32,576,265 (GRCm39)		probably benign	Het
Muc4	G	A	16: 32,587,316 (GRCm39)	C2719Y	possibly damaging	Het
Mvb12b	G	A	2: 33,730,211 (GRCm39)	T60I	possibly damaging	Het
Myh2	C	T	11: 67,084,555 (GRCm39)	T1698M	probably benign	Het
Naalad2	A	T	9: 18,287,829 (GRCm39)	V267E	possibly damaging	Het
Nkpd1	A	T	7: 19,253,745 (GRCm39)	Y37F	probably benign	Het
Or10d5	T	C	9: 39,861,833 (GRCm39)	K78R	possibly damaging	Het
Or2l5	T	C	16: 19,333,996 (GRCm39)	H130R	probably benign	Het
Or8g33	T	C	9: 39,337,915 (GRCm39)	I151V	probably benign	Het
Plekhg2	G	A	7: 28,059,760 (GRCm39)	P1190S	probably benign	Het
Reck	A	G	4: 43,922,837 (GRCm39)	T371A	probably benign	Het
Rnf185	T	C	11: 3,382,445 (GRCm39)	D44G	probably damaging	Het
Rpgrip1l	T	C	8: 91,948,095 (GRCm39)	E1196G	probably benign	Het
Rundc1	A	G	11: 101,322,170 (GRCm39)		probably benign	Het
Sf3b3	T	C	8: 111,541,205 (GRCm39)	Y970C	probably damaging	Het
Sfxn1	A	G	13: 54,239,536 (GRCm39)	T20A	possibly damaging	Het
Shprh	T	C	10: 11,037,979 (GRCm39)		probably benign	Het
Spata31d1a	T	A	13: 59,851,529 (GRCm39)	I200L	probably benign	Het
Srsf6	G	A	2: 162,773,619 (GRCm39)	S10N	probably damaging	Het
Tbxa2r	A	G	10: 81,168,983 (GRCm39)	Y224C	probably benign	Het
Tlr5	A	G	1: 182,799,941 (GRCm39)		probably benign	Het
Tmem270	A	G	5: 134,935,492 (GRCm39)	L21P	probably damaging	Het
Tmtc2	T	C	10: 105,206,218 (GRCm39)	E359G	probably benign	Het
Tnn	A	T	1: 159,975,035 (GRCm39)	C131S	probably damaging	Het
Tnnt2	A	G	1: 135,771,529 (GRCm39)		probably benign	Het
Tns2	C	T	15: 102,017,369 (GRCm39)	R281C	probably damaging	Het
Tph1	A	G	7: 46,314,598 (GRCm39)		probably null	Het
Wiz	C	T	17: 32,575,899 (GRCm39)	V836M	probably damaging	Het
Zfp451	T	A	1: 33,809,988 (GRCm39)		probably benign	Het
Zfp738	A	G	13: 67,818,431 (GRCm39)	F520S	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
IGL03392:Cpsf6	APN	10	117,203,884 (GRCm39)	missense	probably damaging	1.00
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
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

Predicted Primers

PCR Primer
(F):5'- GGGTTTCCAGTATTAGCCCATAGTC -3'
(R):5'- ATACATGCAGGCTGAACACC -3'

Sequencing Primer
(F):5'- TCCAGTATTAGCCCATAGTCATAAC -3'
(R):5'- CAGGCTGAACACCGTGTAC -3'

Posted On

2014-10-15