Mutagenetix > Incidental Mutation

Incidental Mutation 'R7037:Cpsf4'

546762

Institutional Source

Beutler Lab

Gene Symbol

Cpsf4

Ensembl Gene

ENSMUSG00000029625

Gene Name

cleavage and polyadenylation specific factor 4

Synonyms

30kDa

MMRRC Submission

045137-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.952) question?

Stock #

R7037 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

145104023-145118851 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 145112939 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Glutamine at position 141 (R141Q)

Ref Sequence

ENSEMBL: ENSMUSP00000125019 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000070487] [ENSMUST00000160422] [ENSMUST00000160574] [ENSMUST00000160629] [ENSMUST00000162244]

AlphaFold

Q8BQZ5

Predicted Effect

probably benign
Transcript: ENSMUST00000070487
AA Change: R109Q

PolyPhen 2 Score 0.405 (Sensitivity: 0.89; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000069243
Gene: ENSMUSG00000029625
AA Change: R109Q

Domain	Start	End	E-Value	Type
ZnF_C3H1	35	61	1.7e-5	SMART
ZnF_C3H1	62	88	1.4e-10	SMART
ZnF_C3H1	90	110	3.7e-1	SMART
ZnF_C3H1	111	136	3.4e-9	SMART
low complexity region	143	157	N/A	INTRINSIC
ZnF_C2HC	186	202	4.5e-6	SMART

Predicted Effect

possibly damaging
Transcript: ENSMUST00000160422
AA Change: R141Q

PolyPhen 2 Score 0.512 (Sensitivity: 0.88; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000125019
Gene: ENSMUSG00000029625
AA Change: R141Q

Domain	Start	End	E-Value	Type
ZnF_C3H1	35	61	4.17e-3	SMART
ZnF_C3H1	62	88	3.41e-8	SMART
ZnF_C3H1	90	116	6.42e-4	SMART
ZnF_C3H1	118	142	2.86e-1	SMART
ZnF_C3H1	143	168	8.27e-7	SMART
low complexity region	175	191	N/A	INTRINSIC
ZnF_C2HC	244	260	1.04e-3	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000160574

Predicted Effect

probably benign
Transcript: ENSMUST00000160629
AA Change: R141Q

PolyPhen 2 Score 0.007 (Sensitivity: 0.96; Specificity: 0.75)

SMART Domains

Protein: ENSMUSP00000124899
Gene: ENSMUSG00000029625
AA Change: R141Q

Domain	Start	End	E-Value	Type
ZnF_C3H1	35	61	4.17e-3	SMART
ZnF_C3H1	62	88	3.41e-8	SMART
ZnF_C3H1	90	116	6.42e-4	SMART
ZnF_C3H1	118	142	2.86e-1	SMART
ZnF_C3H1	143	168	8.27e-7	SMART
low complexity region	175	189	N/A	INTRINSIC
ZnF_C2HC	218	234	1.04e-3	SMART

Predicted Effect

SMART Domains

Protein: ENSMUSP00000125640
Gene: ENSMUSG00000029625
AA Change: R108Q

Domain	Start	End	E-Value	Type
ZnF_C3H1	3	29	4.17e-3	SMART
ZnF_C3H1	30	56	3.41e-8	SMART
ZnF_C3H1	58	84	6.42e-4	SMART
ZnF_C3H1	86	110	2.86e-1	SMART
ZnF_C3H1	111	136	8.27e-7	SMART
low complexity region	143	157	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000162244
AA Change: R141Q

PolyPhen 2 Score 0.015 (Sensitivity: 0.96; Specificity: 0.79)

SMART Domains

Protein: ENSMUSP00000124966
Gene: ENSMUSG00000029625
AA Change: R141Q

Domain	Start	End	E-Value	Type
ZnF_C3H1	35	61	4.17e-3	SMART
ZnF_C3H1	62	88	3.41e-8	SMART
ZnF_C3H1	90	116	6.42e-4	SMART
ZnF_C3H1	118	142	2.86e-1	SMART
ZnF_C3H1	143	168	8.27e-7	SMART
low complexity region	175	195	N/A	INTRINSIC
ZnF_C2HC	219	235	1.04e-3	SMART

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.2%

Validation Efficiency

100% (70/70)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Inhibition of the nuclear export of poly(A)-containing mRNAs caused by the influenza A virus NS1 protein requires its effector domain. The NS1 effector domain functionally interacts with the cellular 30 kDa subunit of cleavage and polyadenylation specific factor 4, an essential component of the 3' end processing machinery of cellular pre-mRNAs. In influenza virus-infected cells, the NS1 protein is physically associated with cleavage and polyadenylation specific factor 4, 30kD subunit. Binding of the NS1 protein to the 30 kDa protein in vitro prevents CPSF binding to the RNA substrate and inhibits 3' end cleavage and polyadenylation of host pre-mRNAs. Thus the NS1 protein selectively inhibits the nuclear export of cellular, and not viral, mRNAs. Multiple alternatively spliced transcript variants that encode different isoforms have been described for this gene. [provided by RefSeq, Jul 2008]

Allele List at MGI

Other mutations in this stock

Total: 70 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acsm3	A	T	7: 119,367,266 (GRCm39)	N33I	probably damaging	Het
Ahnak2	A	T	12: 112,740,712 (GRCm39)	V314D	probably damaging	Het
Arl14epl	T	G	18: 47,065,510 (GRCm39)	C92G	probably benign	Het
Atp6v1h	T	A	1: 5,220,215 (GRCm39)	M423K	possibly damaging	Het
Baiap3	G	A	17: 25,462,814 (GRCm39)	R1075C	probably benign	Het
Baz2b	C	T	2: 59,764,014 (GRCm39)		probably null	Het
Bicral	T	C	17: 47,135,560 (GRCm39)	H550R	probably benign	Het
C1rl	A	G	6: 124,485,598 (GRCm39)	Y323C	probably damaging	Het
Ccr9	T	A	9: 123,609,036 (GRCm39)	H239Q	possibly damaging	Het
Cdh16	T	A	8: 105,344,267 (GRCm39)	R91*	probably null	Het
Coro1c	A	G	5: 113,983,457 (GRCm39)	F357S	possibly damaging	Het
Cryzl2	G	A	1: 157,298,318 (GRCm39)	V236I	probably damaging	Het
Cttnbp2	T	C	6: 18,435,117 (GRCm39)	E247G	probably damaging	Het
Dbr1	T	A	9: 99,458,621 (GRCm39)		probably null	Het
Dclk1	T	C	3: 55,370,469 (GRCm39)	S23P	probably damaging	Het
Dpyd	A	T	3: 118,692,938 (GRCm39)	I361F	probably benign	Het
Elac2	A	G	11: 64,874,537 (GRCm39)	E218G	probably benign	Het
Eml4	T	A	17: 83,732,756 (GRCm39)	D136E	probably benign	Het
Foxred1	A	T	9: 35,118,844 (GRCm39)	S223T	probably benign	Het
Garin5b	G	T	7: 4,761,584 (GRCm39)		probably benign	Het
Gask1a	G	T	9: 121,794,592 (GRCm39)	V249L	possibly damaging	Het
Gm11595	A	G	11: 99,663,474 (GRCm39)	C69R	unknown	Het
Gna14	A	T	19: 16,511,128 (GRCm39)	H59L		Het
H2-Ab1	T	A	17: 34,486,963 (GRCm39)	I239N	probably damaging	Het
Ints7	T	C	1: 191,351,717 (GRCm39)	S809P	probably benign	Het
Itgb4	T	A	11: 115,896,391 (GRCm39)	Y1379*	probably null	Het
Kank1	A	G	19: 25,407,705 (GRCm39)	D1233G	probably damaging	Het
Kif13a	C	T	13: 46,905,931 (GRCm39)	V671M	possibly damaging	Het
Lrrc66	A	T	5: 73,764,504 (GRCm39)	D846E	probably benign	Het
Lyst	A	G	13: 13,791,251 (GRCm39)	H38R	probably damaging	Het
Mc3r	T	C	2: 172,091,554 (GRCm39)	F259L	probably damaging	Het
Med25	A	G	7: 44,532,206 (GRCm39)	Y384H	probably damaging	Het
Met	A	T	6: 17,547,127 (GRCm39)		probably benign	Het
Mmp16	T	C	4: 18,116,148 (GRCm39)	V584A	possibly damaging	Het
Mrgprb3	A	G	7: 48,292,942 (GRCm39)	L203P	probably damaging	Het
Mus81	A	G	19: 5,536,108 (GRCm39)	L185P	probably damaging	Het
Naaa	A	G	5: 92,424,934 (GRCm39)	V75A	possibly damaging	Het
Obscn	T	A	11: 58,934,755 (GRCm39)	T5292S	probably damaging	Het
Obscn	T	C	11: 58,943,430 (GRCm39)	S4801G	probably damaging	Het
Or2ag19	T	C	7: 106,444,543 (GRCm39)	S242P	probably damaging	Het
Otof	T	C	5: 30,538,882 (GRCm39)	D1112G	probably benign	Het
Pals1	T	A	12: 78,843,973 (GRCm39)	I59N	probably damaging	Het
Pbx4	A	G	8: 70,317,525 (GRCm39)	R170G	probably damaging	Het
Pigt	CCAGGCCAGTGAGTAGGTTTGTCTCTGTCTAGTGTGGATCTGTAACCACAGGCCAGTGAGTAGGTTTGTCTCTGTCTAGTGTGGATCTGTAACCACAGGCCAGTGAGTAGGTTTGTCTCTGTCTAGTGTGGAT	CCAGGCCAGTGAGTAGGTTTGTCTCTGTCTAGTGTGGATCTGTAACCACAGGCCAGTGAGTAGGTTTGTCTCTGTCTAGTGTGGAT	2: 164,341,589 (GRCm39)		probably null	Het
Plce1	A	T	19: 38,690,461 (GRCm39)	D715V	probably damaging	Het
Pms1	T	C	1: 53,246,770 (GRCm39)	T311A	possibly damaging	Het
Popdc2	A	G	16: 38,194,629 (GRCm39)	D350G	probably damaging	Het
Prex1	A	G	2: 166,429,100 (GRCm39)	V661A	probably benign	Het
Ptbp2	A	G	3: 119,545,557 (GRCm39)	Y130H	probably damaging	Het
Rev3l	C	T	10: 39,727,971 (GRCm39)	R2707W	probably damaging	Het
Rpl37	G	A	15: 5,147,185 (GRCm39)	R75K	probably null	Het
Ryr3	T	A	2: 112,779,475 (GRCm39)	R259*	probably null	Het
Scai	A	T	2: 39,080,633 (GRCm39)	S8T	probably benign	Het
Scn4a	C	A	11: 106,211,726 (GRCm39)	L1430F	probably damaging	Het
Sema5a	A	G	15: 32,686,993 (GRCm39)	K1035R	probably damaging	Het
Siah3	A	G	14: 75,763,025 (GRCm39)	H92R	probably benign	Het
Smc4	G	A	3: 68,925,528 (GRCm39)	V342I	possibly damaging	Het
Spata31d1a	C	T	13: 59,848,138 (GRCm39)	C1330Y	possibly damaging	Het
St18	C	A	1: 6,873,260 (GRCm39)	H332N	possibly damaging	Het
Sycp1	T	A	3: 102,806,250 (GRCm39)	E480D	possibly damaging	Het
Tex14	A	T	11: 87,388,741 (GRCm39)	I323F	probably damaging	Het
Tm7sf2	A	T	19: 6,114,107 (GRCm39)		probably null	Het
Tmem241	G	T	18: 12,246,463 (GRCm39)	H62Q	probably benign	Het
Tmem54	T	A	4: 129,004,594 (GRCm39)		probably null	Het
Tomm34	A	G	2: 163,912,398 (GRCm39)	L39P	probably damaging	Het
Triml2	T	A	8: 43,646,573 (GRCm39)	V354D	probably damaging	Het
Usp19	T	C	9: 108,374,157 (GRCm39)	I738T	possibly damaging	Het
Utp25	A	C	1: 192,803,031 (GRCm39)		probably null	Het
Utrn	T	A	10: 12,702,514 (GRCm39)		probably null	Het
Zfp1005	G	T	2: 150,108,376 (GRCm39)	V46F	possibly damaging	Het

Other mutations in Cpsf4

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
BB010:Cpsf4	UTSW	5	145,104,168 (GRCm39)	start codon destroyed	probably null	0.77
BB020:Cpsf4	UTSW	5	145,104,168 (GRCm39)	start codon destroyed	probably null	0.77
R0446:Cpsf4	UTSW	5	145,114,054 (GRCm39)	missense	probably damaging	1.00
R2144:Cpsf4	UTSW	5	145,115,572 (GRCm39)	missense	probably benign	0.00
R5813:Cpsf4	UTSW	5	145,115,683 (GRCm39)	missense	probably benign
R6958:Cpsf4	UTSW	5	145,112,402 (GRCm39)	missense	probably benign	0.22
R7933:Cpsf4	UTSW	5	145,104,168 (GRCm39)	start codon destroyed	probably null	0.77
R8814:Cpsf4	UTSW	5	145,115,678 (GRCm39)	missense	probably benign	0.03
Z1176:Cpsf4	UTSW	5	145,104,225 (GRCm39)	missense	possibly damaging	0.80

Predicted Primers

PCR Primer
(F):5'- AACAGGGCTGTGATACGGTG -3'
(R):5'- GTTCTACCCAGACTGTAGGGTG -3'

Sequencing Primer
(F):5'- TTCCCACTTGCATGGAGAG -3'
(R):5'- TGGATGCCACCCAGAGACTC -3'

Posted On

2019-05-13