Mutagenetix > Incidental Mutation

Incidental Mutation 'R5001:Cpsf6'

389937

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

042595-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.946) question?

Stock #

R5001 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

117180572-117212903 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 117203866 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Leucine at position 29 (I29L)

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: I30L

SMART Domains

Protein: ENSMUSP00000068408
Gene: ENSMUSG00000055531
AA Change: I30L

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

possibly damaging
Transcript: ENSMUST00000175924
AA Change: I29L

PolyPhen 2 Score 0.711 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000135848
Gene: ENSMUSG00000055531
AA Change: I29L

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: I30L

SMART Domains

Protein: ENSMUSP00000135150
Gene: ENSMUSG00000055531
AA Change: I30L

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: I30L

SMART Domains

Protein: ENSMUSP00000134823
Gene: ENSMUSG00000055531
AA Change: I30L

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: I30L

SMART Domains

Protein: ENSMUSP00000135136
Gene: ENSMUSG00000055531
AA Change: I30L

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

1x: 99.1%
3x: 98.4%
10x: 96.4%
20x: 92.7%

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: 99 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adcy3	G	A	12: 4,248,434 (GRCm39)	V499M	possibly damaging	Het
Aff4	T	C	11: 53,295,184 (GRCm39)	S795P	probably damaging	Het
Ank	G	A	15: 27,562,819 (GRCm39)	V176I	probably damaging	Het
Ankfn1	A	G	11: 89,332,268 (GRCm39)	I446T	possibly damaging	Het
Arhgap33	C	A	7: 30,232,441 (GRCm39)	S32I	possibly damaging	Het
Ascc3	T	A	10: 50,699,744 (GRCm39)	Y1856N	probably damaging	Het
Atf3	T	C	1: 190,909,472 (GRCm39)	T66A	probably benign	Het
Atf7ip	T	C	6: 136,538,386 (GRCm39)	C548R	probably damaging	Het
Bag6	A	G	17: 35,364,152 (GRCm39)	T841A	probably damaging	Het
Bbof1	A	T	12: 84,473,630 (GRCm39)	Q320L	possibly damaging	Het
Bmp2k	A	T	5: 97,201,001 (GRCm39)	Q307L	probably damaging	Het
Btaf1	T	A	19: 36,964,052 (GRCm39)	N874K	possibly damaging	Het
Calr4	G	A	4: 109,096,179 (GRCm39)		probably null	Het
Camk1d	T	C	2: 5,317,912 (GRCm39)	I248V	possibly damaging	Het
Ccdc177	G	A	12: 80,804,160 (GRCm39)	R705C	unknown	Het
Cdk18	C	T	1: 132,046,587 (GRCm39)		probably null	Het
Cers4	A	G	8: 4,565,565 (GRCm39)	S4G	probably benign	Het
Cfap54	A	G	10: 92,800,396 (GRCm39)	V1604A	probably benign	Het
Chd8	C	T	14: 52,441,372 (GRCm39)	G907S	probably benign	Het
Cilk1	T	C	9: 78,038,801 (GRCm39)	S17P	probably damaging	Het
Cnksr3	G	A	10: 7,076,746 (GRCm39)	Q149*	probably null	Het
Cntd1	T	C	11: 101,176,557 (GRCm39)	V218A	possibly damaging	Het
Cog7	A	T	7: 121,549,109 (GRCm39)	V384E	probably damaging	Het
Col5a2	A	G	1: 45,542,058 (GRCm39)	V6A	unknown	Het
Col7a1	T	C	9: 108,794,146 (GRCm39)		probably null	Het
Cyp3a13	T	C	5: 137,897,178 (GRCm39)	T379A	probably benign	Het
Ddx46	T	C	13: 55,800,732 (GRCm39)	S296P	probably damaging	Het
Dmbt1	A	G	7: 130,651,742 (GRCm39)	D328G	probably damaging	Het
Dnah8	T	G	17: 31,006,159 (GRCm39)	L3692W	probably damaging	Het
Dnmt3l	A	C	10: 77,895,565 (GRCm39)	S368R	probably null	Het
Egfr	A	G	11: 16,854,434 (GRCm39)	K869E	probably damaging	Het
Ehd1	G	A	19: 6,347,724 (GRCm39)	M359I	probably benign	Het
F5	A	T	1: 164,023,139 (GRCm39)	T1566S	probably benign	Het
Flrt2	T	C	12: 95,745,725 (GRCm39)	I21T	probably benign	Het
Galnt1	T	A	18: 24,404,812 (GRCm39)	I383K	probably benign	Het
Ghdc	G	T	11: 100,657,660 (GRCm39)	A523D	probably damaging	Het
Gm24022	A	G	12: 113,393,399 (GRCm39)		probably benign	Het
Golga3	T	C	5: 110,353,643 (GRCm39)	S934P	probably damaging	Het
Gpr135	T	A	12: 72,117,282 (GRCm39)	T162S	probably benign	Het
Gucd1	G	A	10: 75,353,036 (GRCm39)		probably null	Het
Hcrtr2	T	A	9: 76,137,886 (GRCm39)	I410F	probably benign	Het
Igkv6-15	T	C	6: 70,383,633 (GRCm39)	Y56C	probably damaging	Het
Il22ra1	A	T	4: 135,460,415 (GRCm39)	Y57F	probably damaging	Het
Irak4	A	G	15: 94,456,154 (GRCm39)	E247G	possibly damaging	Het
Kank3	T	C	17: 34,040,746 (GRCm39)	V13A	possibly damaging	Het
Klhl1	A	T	14: 96,374,046 (GRCm39)	S667T	probably damaging	Het
Klhl6	T	G	16: 19,765,741 (GRCm39)	*620C	probably null	Het
Lct	A	G	1: 128,235,978 (GRCm39)	L343P	probably damaging	Het
Lgr6	G	T	1: 134,918,370 (GRCm39)	P264T	probably benign	Het
Lilrb4a	T	A	10: 51,367,516 (GRCm39)		probably null	Het
Lin7a	G	T	10: 107,218,530 (GRCm39)	G25*	probably null	Het
Lmnb2	G	A	10: 80,753,946 (GRCm39)	T36M	probably damaging	Het
Manba	T	C	3: 135,273,391 (GRCm39)	F775S	probably benign	Het
Marchf6	A	G	15: 31,465,468 (GRCm39)	V812A	probably damaging	Het
Megf6	T	A	4: 154,352,517 (GRCm39)	L1292H	probably damaging	Het
Myo18b	T	G	5: 112,909,206 (GRCm39)	Q1979P	probably damaging	Het
Myoz1	T	C	14: 20,703,769 (GRCm39)	M59V	probably damaging	Het
Naa35	T	C	13: 59,773,345 (GRCm39)	I100T	possibly damaging	Het
Nox4	A	T	7: 87,010,011 (GRCm39)	Y404F	probably damaging	Het
Ntn1	T	C	11: 68,151,358 (GRCm39)	Y441C	probably damaging	Het
Onecut3	A	G	10: 80,331,154 (GRCm39)	T105A	unknown	Het
Or10ak8	C	A	4: 118,774,440 (GRCm39)	V75F	probably damaging	Het
Or1n1	T	C	2: 36,750,082 (GRCm39)	T93A	probably benign	Het
Or4d5	G	A	9: 40,012,523 (GRCm39)	H88Y	probably benign	Het
Pabpc1l	A	G	2: 163,884,438 (GRCm39)	S392G	probably benign	Het
Pan3	T	A	5: 147,463,492 (GRCm39)		probably null	Het
Pcdha4	G	A	18: 37,088,001 (GRCm39)	S728N	probably benign	Het
Pds5a	T	C	5: 65,854,128 (GRCm39)	D38G	probably damaging	Het
Pgm2l1	A	G	7: 99,921,583 (GRCm39)	I605V	probably benign	Het
Phip	T	C	9: 82,778,072 (GRCm39)		probably null	Het
Pilra	T	C	5: 137,833,777 (GRCm39)	I96M	probably damaging	Het
Ppig	T	A	2: 69,571,830 (GRCm39)	V183D	unknown	Het
Ppp2r2a	A	T	14: 67,259,757 (GRCm39)	L313*	probably null	Het
Ppp4c	A	G	7: 126,386,709 (GRCm39)	F126S	probably damaging	Het
Ptger2	C	A	14: 45,226,824 (GRCm39)	R135S	probably damaging	Het
Rab11fip5	T	A	6: 85,324,788 (GRCm39)	E506D	probably damaging	Het
Rdh12	G	A	12: 79,259,516 (GRCm39)	G133R	probably damaging	Het
Rims2	A	T	15: 39,315,824 (GRCm39)	D610V	probably benign	Het
Saa1	T	A	7: 46,390,132 (GRCm39)	Y122F	probably damaging	Het
Septin10	A	T	10: 59,012,811 (GRCm39)	V269E	probably damaging	Het
Serpina3n	T	A	12: 104,374,998 (GRCm39)	D23E	probably benign	Het
Serpinb11	A	G	1: 107,304,598 (GRCm39)	K188E	possibly damaging	Het
Slc18a3	C	T	14: 32,185,736 (GRCm39)	V216M	possibly damaging	Het
Slc19a3	G	T	1: 83,000,341 (GRCm39)	N225K	probably benign	Het
Slc4a1	T	A	11: 102,242,329 (GRCm39)	I797F	probably benign	Het
Slx9	A	G	10: 77,325,850 (GRCm39)	V154A	probably benign	Het
Spic	A	G	10: 88,511,761 (GRCm39)	M165T	possibly damaging	Het
Timm44	A	T	8: 4,325,886 (GRCm39)	M1K	probably null	Het
Tmc6	A	G	11: 117,661,610 (GRCm39)	L572P	probably benign	Het
Tnc	G	A	4: 63,918,299 (GRCm39)	T1204M	probably benign	Het
Tnc	G	A	4: 63,902,726 (GRCm39)	T1517I	probably damaging	Het
Trip11	A	T	12: 101,851,169 (GRCm39)	L680*	probably null	Het
Trps1	T	A	15: 50,524,703 (GRCm39)	M887L	possibly damaging	Het
Tulp3	A	C	6: 128,302,031 (GRCm39)	V330G	probably damaging	Het
Upf1	A	G	8: 70,787,350 (GRCm39)	S835P	probably damaging	Het
Wdr64	A	G	1: 175,620,525 (GRCm39)		probably null	Het
Yju2b	G	A	8: 84,985,304 (GRCm39)	P322S	probably benign	Het
Zbtb40	A	G	4: 136,723,461 (GRCm39)	L643P	probably damaging	Het
Zc3h18	A	T	8: 123,110,259 (GRCm39)	D36V	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
R2225:Cpsf6	UTSW	10	117,198,941 (GRCm39)	unclassified	probably benign
R4752:Cpsf6	UTSW	10	117,197,273 (GRCm39)	splice site	probably benign
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'- AAATGCCTGCCACCAGTCTG -3'
(R):5'- CGTGCGCGTCACAATATTATG -3'

Sequencing Primer
(F):5'- CTGCCACCAGTCTGTTAGC -3'
(R):5'- GTCTATTTGCATTTATGTATGGTTGC -3'

Posted On

2016-06-06