Mutagenetix > Incidental Mutation

Incidental Mutation 'R0446:Cpsf4'

39366

Institutional Source

Beutler Lab

Gene Symbol

Cpsf4

Ensembl Gene

ENSMUSG00000029625

Gene Name

cleavage and polyadenylation specific factor 4

Synonyms

30kDa

MMRRC Submission

038647-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.952) question?

Stock #

R0446 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

145104023-145118851 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 145114054 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Glutamine at position 171 (L171Q)

Ref Sequence

ENSEMBL: ENSMUSP00000125019 (fasta)

Gene Model

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

AlphaFold

Q8BQZ5

Predicted Effect

probably damaging
Transcript: ENSMUST00000070487
AA Change: L139Q

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000069243
Gene: ENSMUSG00000029625
AA Change: L139Q

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

probably damaging
Transcript: ENSMUST00000160422
AA Change: L171Q

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000125019
Gene: ENSMUSG00000029625
AA Change: L171Q

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

noncoding transcript
Transcript: ENSMUST00000160437

Predicted Effect

probably benign
Transcript: ENSMUST00000160574

Predicted Effect

probably damaging
Transcript: ENSMUST00000160629
AA Change: L171Q

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000124899
Gene: ENSMUSG00000029625
AA Change: L171Q

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

unknown
Transcript: ENSMUST00000160762
AA Change: L138Q

SMART Domains

Protein: ENSMUSP00000125640
Gene: ENSMUSG00000029625
AA Change: L138Q

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 damaging
Transcript: ENSMUST00000162244
AA Change: L171Q

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000124966
Gene: ENSMUSG00000029625
AA Change: L171Q

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: 99.2%
3x: 98.5%
10x: 96.9%
20x: 94.6%

Validation Efficiency

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: 63 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4933434E20Rik	A	G	3: 89,971,766 (GRCm39)	T42A	probably benign	Het
Actr3b	T	A	5: 26,036,730 (GRCm39)	I181K	probably damaging	Het
Avl9	G	T	6: 56,713,468 (GRCm39)	R242L	probably benign	Het
B3galt4	T	C	17: 34,169,992 (GRCm39)	E82G	probably benign	Het
Bag1	G	A	4: 40,936,609 (GRCm39)	T349I	probably benign	Het
Brip1	A	T	11: 86,048,427 (GRCm39)	L305Q	probably damaging	Het
Cdipt	A	G	7: 126,577,436 (GRCm39)	T61A	probably damaging	Het
Cmya5	T	A	13: 93,230,164 (GRCm39)	R1641S	probably benign	Het
Cog7	T	C	7: 121,536,295 (GRCm39)	D515G	probably benign	Het
Cstpp1	G	A	2: 91,135,109 (GRCm39)	T20I	possibly damaging	Het
Cuzd1	A	T	7: 130,918,009 (GRCm39)		probably null	Het
Dapk1	T	A	13: 60,873,101 (GRCm39)		probably null	Het
Diaph1	A	G	18: 37,986,643 (GRCm39)	V1114A	possibly damaging	Het
Emx2	A	T	19: 59,452,348 (GRCm39)	K211*	probably null	Het
Fam170a	T	A	18: 50,413,699 (GRCm39)	C55S	possibly damaging	Het
Fbxw26	A	G	9: 109,572,788 (GRCm39)	S119P	probably benign	Het
Fhip2a	G	A	19: 57,369,839 (GRCm39)	D461N	probably benign	Het
Fryl	G	A	5: 73,254,760 (GRCm39)	T894M	possibly damaging	Het
Gad1-ps	C	A	10: 99,281,383 (GRCm39)		noncoding transcript	Het
Gss	T	C	2: 155,409,665 (GRCm39)	E257G	probably benign	Het
Klhdc1	A	C	12: 69,330,082 (GRCm39)	S404R	probably benign	Het
Kmt2e	T	A	5: 23,702,532 (GRCm39)		probably null	Het
Krt20	G	A	11: 99,328,602 (GRCm39)	Q108*	probably null	Het
Lmnb1	T	A	18: 56,876,331 (GRCm39)	S480T	probably benign	Het
Lyst	T	A	13: 13,812,633 (GRCm39)	M1015K	probably benign	Het
Mdm1	T	G	10: 117,987,961 (GRCm39)	S290A	probably benign	Het
Mkln1	T	A	6: 31,426,439 (GRCm39)	F238I	probably damaging	Het
Mrgprb3	A	G	7: 48,292,984 (GRCm39)	V189A	probably benign	Het
Myrf	G	C	19: 10,195,526 (GRCm39)	T428S	probably benign	Het
Naip2	A	C	13: 100,298,290 (GRCm39)	I582S	probably benign	Het
Neurod6	C	T	6: 55,656,614 (GRCm39)	E8K	probably benign	Het
Nlrp12	T	C	7: 3,282,659 (GRCm39)	I747V	probably benign	Het
Notch4	C	T	17: 34,784,337 (GRCm39)	R43W	possibly damaging	Het
Obscn	A	T	11: 58,886,238 (GRCm39)		probably benign	Het
Or10d3	A	T	9: 39,461,747 (GRCm39)	I140N	probably damaging	Het
Or5p57	A	T	7: 107,665,932 (GRCm39)	Y24*	probably null	Het
Or5w20	T	C	2: 87,727,199 (GRCm39)	Y219H	possibly damaging	Het
Or6ae1	A	T	7: 139,742,384 (GRCm39)	S160T	probably damaging	Het
Or6z5	T	C	7: 6,478,024 (GRCm39)	V305A	probably benign	Het
Or8b53	G	T	9: 38,667,114 (GRCm39)	L43F	probably damaging	Het
Orc5	C	T	5: 22,751,455 (GRCm39)	V85I	probably benign	Het
Pccb	T	C	9: 100,864,850 (GRCm39)	D468G	probably damaging	Het
Pdzd2	A	T	15: 12,375,110 (GRCm39)	V1675E	probably benign	Het
Pkd1l3	C	G	8: 110,350,281 (GRCm39)	D375E	possibly damaging	Het
Pltp	A	T	2: 164,696,320 (GRCm39)	N97K	probably damaging	Het
Polr1a	T	C	6: 71,927,648 (GRCm39)		probably null	Het
Prss42	G	A	9: 110,628,341 (GRCm39)	V162I	possibly damaging	Het
Rbfox2	A	T	15: 76,983,455 (GRCm39)	Y269N	probably damaging	Het
Rftn2	A	T	1: 55,253,354 (GRCm39)	I83K	probably damaging	Het
S1pr4	A	T	10: 81,334,823 (GRCm39)	I217N	probably damaging	Het
Slc23a2	T	C	2: 131,920,353 (GRCm39)	K184R	probably benign	Het
Slc6a19	T	C	13: 73,839,814 (GRCm39)	N156S	probably benign	Het
Svep1	C	T	4: 58,088,280 (GRCm39)	G1723D	probably damaging	Het
Tbc1d32	T	A	10: 56,068,994 (GRCm39)	H358L	possibly damaging	Het
Tex55	G	A	16: 38,649,064 (GRCm39)	T15I	probably benign	Het
Tigit	G	T	16: 43,482,634 (GRCm39)	N33K	probably damaging	Het
Tmem25	T	C	9: 44,707,878 (GRCm39)	Y139C	probably damaging	Het
Trmt13	G	A	3: 116,376,275 (GRCm39)	T372M	probably damaging	Het
Ubr2	A	T	17: 47,294,224 (GRCm39)	M303K	probably damaging	Het
Usp34	A	G	11: 23,417,207 (GRCm39)	E2952G	probably damaging	Het
Zan	T	A	5: 137,389,920 (GRCm39)	I4851F	unknown	Het
Zfand4	C	T	6: 116,265,015 (GRCm39)	T160I	probably benign	Het
Zfp1005	A	G	2: 150,109,993 (GRCm39)	T228A	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
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
R7037:Cpsf4	UTSW	5	145,112,939 (GRCm39)	missense	possibly damaging	0.51
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'- ATGTCACTGAGTGCTGCTGTACATC -3'
(R):5'- AAAACAAGGAAACTGCTTTGCCCTG -3'

Sequencing Primer
(F):5'- ACATCCTGAGGAGGTCTTGATAC -3'
(R):5'- TCAGTTGGAATAAGAGGGCATATCC -3'

Posted On

2013-05-23