Mutagenetix > Incidental Mutation

Incidental Mutation 'R8907:Pcf11'

678448

Institutional Source

Beutler Lab

Gene Symbol

Pcf11

Ensembl Gene

ENSMUSG00000041328

Gene Name

PCF11 cleavage and polyadenylation factor subunit

Synonyms

5730417B17Rik, 2500001H09Rik

MMRRC Submission

068763-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.961) question?

Stock #

R8907 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

92292751-92319142 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 92302451 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 1220 (T1220A)

Ref Sequence

ENSEMBL: ENSMUSP00000113717 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000119954]

AlphaFold

G3X9Z4

Predicted Effect

probably benign
Transcript: ENSMUST00000119954
AA Change: T1220A

PolyPhen 2 Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)

SMART Domains

Protein: ENSMUSP00000113717
Gene: ENSMUSG00000041328
AA Change: T1220A

Domain	Start	End	E-Value	Type
RPR	17	139	6.74e-43	SMART
low complexity region	173	194	N/A	INTRINSIC
coiled coil region	202	243	N/A	INTRINSIC
low complexity region	355	380	N/A	INTRINSIC
low complexity region	421	434	N/A	INTRINSIC
low complexity region	471	513	N/A	INTRINSIC
low complexity region	793	819	N/A	INTRINSIC
low complexity region	833	853	N/A	INTRINSIC
internal_repeat_1	854	931	1.77e-14	PROSPERO
low complexity region	932	948	N/A	INTRINSIC
internal_repeat_1	969	1105	1.77e-14	PROSPERO
low complexity region	1159	1178	N/A	INTRINSIC
low complexity region	1294	1315	N/A	INTRINSIC
low complexity region	1445	1458	N/A	INTRINSIC

Predicted Effect

SMART Domains

Protein: ENSMUSP00000115278
Gene: ENSMUSG00000041328
AA Change: T1142A

Domain	Start	End	E-Value	Type
coiled coil region	1	34	N/A	INTRINSIC
low complexity region	147	172	N/A	INTRINSIC
low complexity region	213	226	N/A	INTRINSIC
low complexity region	263	305	N/A	INTRINSIC
low complexity region	716	742	N/A	INTRINSIC
low complexity region	756	776	N/A	INTRINSIC
internal_repeat_1	777	854	3.34e-13	PROSPERO
low complexity region	855	871	N/A	INTRINSIC
internal_repeat_1	892	1028	3.34e-13	PROSPERO
low complexity region	1082	1101	N/A	INTRINSIC
low complexity region	1217	1238	N/A	INTRINSIC
low complexity region	1368	1381	N/A	INTRINSIC

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.4%

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 binds to CLP1 to form pre-mRNA cleavage factor IIm. The encoded protein is necessary for efficient Pol II transcription termination and may be involved in degradation of the 3' product of polyA site cleavage. [provided by RefSeq, Oct 2016]

Allele List at MGI

All alleles(13) : Targeted, other(2) Gene trapped(11)

Other mutations in this stock

Total: 68 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
5930422O12Rik	A	G	8: 33,919,398 (GRCm39)	I73V	probably damaging	Het
Agap3	T	C	5: 24,679,629 (GRCm39)	I109T	probably benign	Het
Ahnak	G	A	19: 8,986,452 (GRCm39)	V2579M	probably benign	Het
Akap13	T	C	7: 75,260,444 (GRCm39)	S220P	probably benign	Het
Akap13	C	G	7: 75,260,456 (GRCm39)	P224A	probably damaging	Het
Alpk1	G	A	3: 127,474,642 (GRCm39)	Q454*	probably null	Het
Asrgl1	C	T	19: 9,090,506 (GRCm39)	G280D	probably damaging	Het
Atp6v0d1	TTCTTACCTC	T	8: 106,251,782 (GRCm39)		probably benign	Het
Atxn2l	T	A	7: 126,099,425 (GRCm39)	D204V	probably damaging	Het
B430306N03Rik	T	C	17: 48,628,100 (GRCm39)	Y177H	probably damaging	Het
Bcl2l14	G	A	6: 134,400,585 (GRCm39)	C2Y	probably damaging	Het
Bltp1	T	A	3: 37,002,295 (GRCm39)	Y1413*	probably null	Het
Bphl	A	T	13: 34,230,930 (GRCm39)	M125L	possibly damaging	Het
Cdh10	A	T	15: 19,013,521 (GRCm39)	N707I	probably damaging	Het
Ceacam1	T	A	7: 25,171,444 (GRCm39)	D340V	possibly damaging	Het
Cklf	G	A	8: 104,977,671 (GRCm39)	V8I	probably benign	Het
Cln5	A	G	14: 103,310,711 (GRCm39)	N126S	probably damaging	Het
Col5a2	A	T	1: 45,456,106 (GRCm39)	M327K	probably benign	Het
Col6a6	A	T	9: 105,644,528 (GRCm39)	F1253L	probably damaging	Het
Crb2	G	A	2: 37,685,395 (GRCm39)	S1169N	probably benign	Het
Cspg4	A	T	9: 56,790,967 (GRCm39)	D72V	probably damaging	Het
Ctnnd2	C	T	15: 30,905,873 (GRCm39)	P840L	probably damaging	Het
Eea1	T	C	10: 95,826,274 (GRCm39)	Y105H	probably damaging	Het
Epha4	A	C	1: 77,483,422 (GRCm39)	S196A	probably damaging	Het
Evx1	C	T	6: 52,293,746 (GRCm39)	R305C	probably damaging	Het
Fcamr	G	T	1: 130,740,328 (GRCm39)	G249V	probably damaging	Het
Fdxacb1	C	T	9: 50,681,451 (GRCm39)	T124I	probably damaging	Het
Fmn1	T	G	2: 113,355,914 (GRCm39)	L883R	unknown	Het
Frmd4b	T	C	6: 97,273,046 (GRCm39)	N782S	probably damaging	Het
Frmpd2	T	G	14: 33,248,380 (GRCm39)	C621W	probably damaging	Het
Fsip2	T	A	2: 82,816,984 (GRCm39)	V4239D	probably benign	Het
Gcnt4	A	G	13: 97,083,844 (GRCm39)	Y380C	probably damaging	Het
Gm7298	T	C	6: 121,741,817 (GRCm39)	V413A	probably benign	Het
Gstp3	C	T	19: 4,108,145 (GRCm39)	V93M	possibly damaging	Het
Helz2	A	T	2: 180,874,920 (GRCm39)	M1858K	possibly damaging	Het
Ighv1-7	T	A	12: 114,502,353 (GRCm39)	K38M	probably damaging	Het
Klri1	T	C	6: 129,680,283 (GRCm39)	K124R	probably null	Het
Kmt2c	A	T	5: 25,514,609 (GRCm39)	F3078Y	probably damaging	Het
Map4k4	C	T	1: 40,058,770 (GRCm39)	P988L	probably damaging	Het
Mmrn1	G	A	6: 60,953,077 (GRCm39)	E453K	probably damaging	Het
Muc5b	T	A	7: 141,417,875 (GRCm39)	V3607E	probably benign	Het
Myo15a	T	A	11: 60,417,434 (GRCm39)	I3461N		Het
Ngef	G	A	1: 87,405,376 (GRCm39)	S678F	probably damaging	Het
Npc1l1	A	T	11: 6,178,157 (GRCm39)	S418T	probably benign	Het
Nprl2	A	G	9: 107,421,995 (GRCm39)	D257G	probably damaging	Het
Or4c113	A	T	2: 88,885,542 (GRCm39)	V76D	probably damaging	Het
Pard3b	A	G	1: 62,383,294 (GRCm39)	D796G	probably benign	Het
Pkhd1	T	C	1: 20,187,785 (GRCm39)	I3508V	possibly damaging	Het
Ppargc1a	A	T	5: 51,647,570 (GRCm39)	S258T	probably damaging	Het
Prom1	A	G	5: 44,159,135 (GRCm39)	Y830H	probably damaging	Het
Ptprm	T	A	17: 67,051,732 (GRCm39)	H1001L	probably damaging	Het
Rab8b	A	G	9: 66,826,807 (GRCm39)	F37L	probably benign	Het
Rsf1	GGCG	GGCGACGGCTGCG	7: 97,229,113 (GRCm39)		probably benign	Het
Rsf1	GGCGGCGGC	GGCGGCGGCCGCGGCGGC	7: 97,229,125 (GRCm39)		probably benign	Het
Sdk1	A	T	5: 142,070,278 (GRCm39)	I1148F	probably damaging	Het
Sec62	A	G	3: 30,864,621 (GRCm39)	K162E	unknown	Het
Serpinb13	A	T	1: 106,928,519 (GRCm39)	I380F	probably damaging	Het
Sptb	T	C	12: 76,634,186 (GRCm39)	D2175G	probably benign	Het
St3gal6	T	C	16: 58,314,095 (GRCm39)	I13V	probably benign	Het
Tfpi2	A	T	6: 3,967,996 (GRCm39)	L48H	probably damaging	Het
Tmem121b	T	A	6: 120,469,707 (GRCm39)	I337F	probably damaging	Het
Tpbgl	T	C	7: 99,275,182 (GRCm39)	D225G	probably benign	Het
Trpa1	A	G	1: 14,959,664 (GRCm39)	V674A	probably benign	Het
Trpa1	A	G	1: 14,963,563 (GRCm39)	L553P	probably damaging	Het
Tyrp1	T	C	4: 80,755,798 (GRCm39)	V189A	probably damaging	Het
Vmn1r19	G	T	6: 57,381,991 (GRCm39)	M181I	probably benign	Het
Vmn2r10	T	C	5: 109,149,791 (GRCm39)	T418A	probably benign	Het
Zfp617	A	G	8: 72,686,927 (GRCm39)	Y419C	probably damaging	Het

Other mutations in Pcf11

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01160:Pcf11	APN	7	92,310,894 (GRCm39)	missense	possibly damaging	0.51
IGL02439:Pcf11	APN	7	92,311,049 (GRCm39)	missense	possibly damaging	0.93
IGL02658:Pcf11	APN	7	92,296,254 (GRCm39)	missense	probably damaging	1.00
IGL02702:Pcf11	APN	7	92,310,826 (GRCm39)	missense	possibly damaging	0.76
3-1:Pcf11	UTSW	7	92,307,726 (GRCm39)	missense	probably damaging	1.00
R0015:Pcf11	UTSW	7	92,307,525 (GRCm39)	missense	probably benign	0.28
R0015:Pcf11	UTSW	7	92,307,525 (GRCm39)	missense	probably benign	0.28
R0078:Pcf11	UTSW	7	92,318,767 (GRCm39)	missense	possibly damaging	0.90
R0110:Pcf11	UTSW	7	92,307,039 (GRCm39)	missense	probably damaging	1.00
R0373:Pcf11	UTSW	7	92,310,423 (GRCm39)	missense	probably benign
R0450:Pcf11	UTSW	7	92,307,039 (GRCm39)	missense	probably damaging	1.00
R1717:Pcf11	UTSW	7	92,312,793 (GRCm39)	missense	probably benign	0.00
R1952:Pcf11	UTSW	7	92,310,546 (GRCm39)	missense	probably damaging	1.00
R1965:Pcf11	UTSW	7	92,310,809 (GRCm39)	missense	probably benign
R2045:Pcf11	UTSW	7	92,311,087 (GRCm39)	missense	probably damaging	1.00
R2245:Pcf11	UTSW	7	92,315,080 (GRCm39)	unclassified	probably benign
R3824:Pcf11	UTSW	7	92,308,828 (GRCm39)	intron	probably benign
R4439:Pcf11	UTSW	7	92,307,225 (GRCm39)	missense	probably damaging	0.99
R4517:Pcf11	UTSW	7	92,295,696 (GRCm39)	missense	probably damaging	1.00
R4671:Pcf11	UTSW	7	92,306,737 (GRCm39)	missense	possibly damaging	0.62
R4674:Pcf11	UTSW	7	92,308,985 (GRCm39)	intron	probably benign
R4675:Pcf11	UTSW	7	92,308,985 (GRCm39)	intron	probably benign
R4732:Pcf11	UTSW	7	92,308,041 (GRCm39)	missense	probably benign	0.33
R4733:Pcf11	UTSW	7	92,308,041 (GRCm39)	missense	probably benign	0.33
R4758:Pcf11	UTSW	7	92,310,383 (GRCm39)	missense	probably damaging	0.97
R4985:Pcf11	UTSW	7	92,311,110 (GRCm39)	missense	probably benign	0.01
R5041:Pcf11	UTSW	7	92,307,613 (GRCm39)	missense	probably benign	0.00
R5248:Pcf11	UTSW	7	92,310,699 (GRCm39)	missense	probably damaging	1.00
R5688:Pcf11	UTSW	7	92,308,016 (GRCm39)	missense	possibly damaging	0.92
R5814:Pcf11	UTSW	7	92,306,922 (GRCm39)	missense	probably benign	0.00
R6240:Pcf11	UTSW	7	92,295,710 (GRCm39)	missense	probably damaging	1.00
R6327:Pcf11	UTSW	7	92,308,817 (GRCm39)	intron	probably benign
R6615:Pcf11	UTSW	7	92,307,090 (GRCm39)	missense	probably damaging	0.96
R6795:Pcf11	UTSW	7	92,306,786 (GRCm39)	missense	probably benign	0.04
R6896:Pcf11	UTSW	7	92,298,759 (GRCm39)	missense	probably damaging	0.99
R6902:Pcf11	UTSW	7	92,307,507 (GRCm39)	missense	probably damaging	0.99
R7030:Pcf11	UTSW	7	92,306,886 (GRCm39)	missense	probably benign	0.21
R7135:Pcf11	UTSW	7	92,306,524 (GRCm39)	missense	probably benign	0.05
R7162:Pcf11	UTSW	7	92,313,221 (GRCm39)	missense	probably damaging	0.97
R7210:Pcf11	UTSW	7	92,312,684 (GRCm39)	missense	probably benign
R7243:Pcf11	UTSW	7	92,309,268 (GRCm39)	missense	probably damaging	1.00
R7362:Pcf11	UTSW	7	92,302,453 (GRCm39)	missense	possibly damaging	0.83
R7876:Pcf11	UTSW	7	92,310,534 (GRCm39)	missense	probably damaging	1.00
R8208:Pcf11	UTSW	7	92,298,731 (GRCm39)	missense	probably damaging	1.00
R8212:Pcf11	UTSW	7	92,308,706 (GRCm39)	missense	probably damaging	0.97
R8515:Pcf11	UTSW	7	92,307,998 (GRCm39)	missense	possibly damaging	0.92
R8534:Pcf11	UTSW	7	92,302,432 (GRCm39)	missense	probably benign	0.00
R9307:Pcf11	UTSW	7	92,306,534 (GRCm39)	missense	possibly damaging	0.81
R9585:Pcf11	UTSW	7	92,311,006 (GRCm39)	missense	probably benign	0.01
R9648:Pcf11	UTSW	7	92,307,318 (GRCm39)	missense	probably damaging	0.99
R9780:Pcf11	UTSW	7	92,313,313 (GRCm39)	missense	possibly damaging	0.63
R9781:Pcf11	UTSW	7	92,297,228 (GRCm39)	missense	possibly damaging	0.50

Predicted Primers

PCR Primer
(F):5'- CTCAGAGGAAACACTTTAGCCAG -3'
(R):5'- AAGGAAGTCTCCCCTCATTATTC -3'

Sequencing Primer
(F):5'- ACAAACTCTCAAAAATGCCATTTTC -3'
(R):5'- CTGAAACTCTCTCTGTAGACCAC -3'

Posted On

2021-08-02