Mutagenetix > Incidental Mutation

Incidental Mutation 'R5393:Cpsf6'

478267

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

042965-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.939) question?

Stock #

R5393 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

117180572-117212903 bp(-) (GRCm39)

Type of Mutation

unclassified

DNA Base Change (assembly)

G to C at 117197921 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: P231R

SMART Domains

Protein: ENSMUSP00000068408
Gene: ENSMUSG00000055531
AA Change: P231R

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: P231R

SMART Domains

Protein: ENSMUSP00000135150
Gene: ENSMUSG00000055531
AA Change: P231R

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: P231R

SMART Domains

Protein: ENSMUSP00000134823
Gene: ENSMUSG00000055531
AA Change: P231R

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: P231R

SMART Domains

Protein: ENSMUSP00000135136
Gene: ENSMUSG00000055531
AA Change: P231R

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

0.1046

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.5%
20x: 95.9%

Validation Efficiency

99% (72/73)

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: 62 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1110025L11Rik	A	T	16: 88,860,653 (GRCm39)	Y60*	probably null	Het
Abca6	T	A	11: 110,135,121 (GRCm39)	E221D	probably benign	Het
Acyp2	C	T	11: 30,456,354 (GRCm39)	E98K	possibly damaging	Het
Adi1	A	G	12: 28,725,274 (GRCm39)	D8G	probably benign	Het
Adnp	T	C	2: 168,024,869 (GRCm39)	K809E	possibly damaging	Het
Aldh18a1	T	C	19: 40,574,011 (GRCm39)	H4R	probably benign	Het
Atp6v0a1	T	C	11: 100,929,633 (GRCm39)	S485P	possibly damaging	Het
C1galt1	T	C	6: 7,864,143 (GRCm39)		probably null	Het
Cacna2d4	A	T	6: 119,216,015 (GRCm39)	N94I	probably benign	Het
Catsperg1	T	C	7: 28,884,924 (GRCm39)	N899S	probably damaging	Het
Cilk1	A	G	9: 78,067,997 (GRCm39)	T463A	probably benign	Het
Coro2a	A	G	4: 46,542,255 (GRCm39)	S373P	probably damaging	Het
Csmd3	A	T	15: 47,497,099 (GRCm39)	N3099K	probably damaging	Het
Ctla2b	T	A	13: 61,043,946 (GRCm39)	E74D	probably damaging	Het
Dnah2	T	A	11: 69,391,683 (GRCm39)	T671S	probably benign	Het
Drd5	T	A	5: 38,478,248 (GRCm39)	S414T	probably benign	Het
Dyrk2	C	T	10: 118,695,753 (GRCm39)	D502N	probably damaging	Het
Ecel1	A	T	1: 87,080,598 (GRCm39)	L376Q	possibly damaging	Het
Efcab8	G	A	2: 153,622,903 (GRCm39)	R24Q	unknown	Het
Eloc	A	C	1: 16,718,192 (GRCm39)		probably benign	Het
Ep300	A	G	15: 81,515,819 (GRCm39)		probably benign	Het
Fam89b	T	C	19: 5,778,733 (GRCm39)	D152G	probably damaging	Het
Gm15455	G	A	1: 33,875,927 (GRCm39)		noncoding transcript	Het
Greb1l	A	G	18: 10,458,312 (GRCm39)	T30A	probably benign	Het
Hdac10	T	C	15: 89,010,887 (GRCm39)	Y238C	probably damaging	Het
Ighv2-5	T	C	12: 113,649,502 (GRCm39)	T12A	possibly damaging	Het
Insrr	T	C	3: 87,718,007 (GRCm39)		probably null	Het
Irf9	T	C	14: 55,843,914 (GRCm39)		probably benign	Het
Itpr2	A	T	6: 146,277,653 (GRCm39)	C280*	probably null	Het
Kcnk18	T	C	19: 59,208,271 (GRCm39)	C36R	probably damaging	Het
Khdc4	T	A	3: 88,603,913 (GRCm39)	H243Q	probably benign	Het
Klhl14	G	T	18: 21,785,051 (GRCm39)	N125K	probably benign	Het
Lce1i	T	C	3: 92,685,042 (GRCm39)	S45G	unknown	Het
Lrmda	A	C	14: 22,077,374 (GRCm39)	D37A	probably damaging	Het
Marco	A	C	1: 120,413,583 (GRCm39)	D280E	probably damaging	Het
Meak7	T	C	8: 120,499,157 (GRCm39)	I112V	probably benign	Het
Miox	C	T	15: 89,220,450 (GRCm39)	Q180*	probably null	Het
Npdc1	A	T	2: 25,298,682 (GRCm39)	M265L	probably damaging	Het
Nudcd3	T	C	11: 6,063,274 (GRCm39)	K205R	probably damaging	Het
Or2ak6	T	A	11: 58,593,326 (GRCm39)	H266Q	probably damaging	Het
Or2t46	C	G	11: 58,471,825 (GRCm39)	L52V	possibly damaging	Het
Pcdhga5	C	T	18: 37,829,720 (GRCm39)	R723C	probably benign	Het
Pdlim5	T	A	3: 141,964,947 (GRCm39)	E295D	probably damaging	Het
Poli	C	A	18: 70,650,499 (GRCm39)	E314*	probably null	Het
Ptpro	A	G	6: 137,357,222 (GRCm39)	N238D	probably benign	Het
R3hdm1	A	G	1: 128,159,084 (GRCm39)	I920V	probably benign	Het
Ralgapa2	C	T	2: 146,187,375 (GRCm39)	V1338M	probably damaging	Het
Saa3	T	C	7: 46,362,085 (GRCm39)	Y53C	probably damaging	Het
Septin14	T	A	5: 129,760,650 (GRCm39)	E398D	probably benign	Het
Six3	T	C	17: 85,931,270 (GRCm39)	S309P	possibly damaging	Het
Slc7a14	A	G	3: 31,311,919 (GRCm39)	S34P	probably damaging	Het
Smarca2	C	A	19: 26,617,829 (GRCm39)	Q287K	probably benign	Het
Stard9	C	T	2: 120,533,387 (GRCm39)	L522F	possibly damaging	Het
Sycp1	T	C	3: 102,748,363 (GRCm39)		probably null	Het
Tbc1d8	A	T	1: 39,465,169 (GRCm39)	V73E	probably damaging	Het
Tmem120a	T	C	5: 135,765,104 (GRCm39)		probably null	Het
Tsc2	T	C	17: 24,819,370 (GRCm39)	E1251G	possibly damaging	Het
Vps51	T	G	19: 6,121,063 (GRCm39)	E283D	probably benign	Het
Wnt5b	A	C	6: 119,417,394 (GRCm39)	L157R	probably damaging	Het
Zbtb24	T	A	10: 41,340,578 (GRCm39)	V536E	probably damaging	Het
Zfp593	G	A	4: 133,972,615 (GRCm39)	A67V	probably benign	Het
Zfp995	A	T	17: 22,099,473 (GRCm39)	F254I	probably benign	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
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
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'- TATGCTGTGCCCCATATGCC -3'
(R):5'- TTTGGATGTTTGCAGCTACAC -3'

Sequencing Primer
(F):5'- ATGCCATGGAATCCTAGTTTCCAGG -3'
(R):5'- TTTGCAGCTACACAGTCAGG -3'

Posted On

2017-06-05