Mutagenetix > Incidental Mutation

Incidental Mutation 'R4671:Pcf11'

348438

Institutional Source

Beutler Lab

Gene Symbol

Pcf11

Ensembl Gene

ENSMUSG00000041328

Gene Name

PCF11 cleavage and polyadenylation factor subunit

Synonyms

5730417B17Rik, 2500001H09Rik

Accession Numbers

Essential gene?

Probably essential (E-score: 0.962) question?

Stock #

R4671 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

92292751-92319142 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 92306737 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Threonine at position 1144 (S1144T)

Ref Sequence

ENSEMBL: ENSMUSP00000113717 (fasta)

Gene Model

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

AlphaFold

G3X9Z4

Predicted Effect

possibly damaging
Transcript: ENSMUST00000119954
AA Change: S1144T

PolyPhen 2 Score 0.615 (Sensitivity: 0.87; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000113717
Gene: ENSMUSG00000041328
AA Change: S1144T

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

unknown
Transcript: ENSMUST00000151177
AA Change: S1066T

SMART Domains

Protein: ENSMUSP00000115278
Gene: ENSMUSG00000041328
AA Change: S1066T

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: 99.2%
3x: 98.6%
10x: 97.3%
20x: 95.4%

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
Abcc2	T	C	19: 43,789,157 (GRCm39)	S271P	probably benign	Het
Acod1	T	G	14: 103,284,508 (GRCm39)	M2R	probably benign	Het
Adamts20	T	C	15: 94,301,206 (GRCm39)	E106G	possibly damaging	Het
Adgra3	G	A	5: 50,136,710 (GRCm39)	T661M	probably damaging	Het
Akap13	T	A	7: 75,229,312 (GRCm39)	C161*	probably null	Het
Akr1c12	A	C	13: 4,323,816 (GRCm39)	S162A	possibly damaging	Het
Anks1	C	A	17: 28,270,552 (GRCm39)	H805N	probably benign	Het
Arhgap22	T	C	14: 33,084,500 (GRCm39)	C260R	probably damaging	Het
Banf1	T	C	19: 5,415,872 (GRCm39)	R33G	probably benign	Het
Bcas1	T	C	2: 170,226,245 (GRCm39)	K310R	probably damaging	Het
Cacna1c	G	T	6: 118,629,019 (GRCm39)	H1240N	probably damaging	Het
Cartpt	C	T	13: 100,036,588 (GRCm39)		probably null	Het
Ccdc127	T	A	13: 74,505,164 (GRCm39)	Y237*	probably null	Het
Ccnb1ip1	A	T	14: 51,029,734 (GRCm39)	Y109*	probably null	Het
Cenpj	A	T	14: 56,790,840 (GRCm39)	V403E	possibly damaging	Het
Cps1	A	G	1: 67,235,719 (GRCm39)	Y951C	probably damaging	Het
Dcakd	T	C	11: 102,890,634 (GRCm39)	E51G	possibly damaging	Het
Dennd4a	A	T	9: 64,801,689 (GRCm39)	N944I	probably benign	Het
Dus3l	C	T	17: 57,075,566 (GRCm39)	R430C	probably benign	Het
Dync2h1	A	G	9: 7,169,640 (GRCm39)	L279P	possibly damaging	Het
Dzip3	G	A	16: 48,799,953 (GRCm39)	Q112*	probably null	Het
Eif1ad	T	A	19: 5,418,219 (GRCm39)	M1K	probably null	Het
Fabp3	C	T	4: 130,206,180 (GRCm39)	T57I	probably benign	Het
Fancg	T	C	4: 43,005,272 (GRCm39)	E366G	probably benign	Het
Gin1	C	T	1: 97,712,565 (GRCm39)	P154S	probably damaging	Het
Gm11938	A	T	11: 99,493,832 (GRCm39)	C88S	possibly damaging	Het
Gpr183	T	C	14: 122,192,149 (GRCm39)	D124G	probably damaging	Het
Gucy2g	T	A	19: 55,226,500 (GRCm39)	I139F	probably damaging	Het
Iqub	A	T	6: 24,479,183 (GRCm39)	M453K	probably benign	Het
Jcad	A	G	18: 4,674,175 (GRCm39)	T646A	probably benign	Het
Kif23	A	T	9: 61,852,641 (GRCm39)	D24E	probably benign	Het
Kmt2c	T	C	5: 25,571,175 (GRCm39)	N845S	probably damaging	Het
Lhx5	G	A	5: 120,578,032 (GRCm39)	S284N	probably benign	Het
Lipf	T	G	19: 33,954,076 (GRCm39)	V389G	possibly damaging	Het
Lrrc7	C	T	3: 157,908,132 (GRCm39)		probably null	Het
Magi1	A	G	6: 93,657,768 (GRCm39)		probably null	Het
Mast2	A	G	4: 116,165,847 (GRCm39)	S1287P	probably damaging	Het
Mepce	C	T	5: 137,784,905 (GRCm39)		probably benign	Het
Mkrn1	A	G	6: 39,382,691 (GRCm39)	V173A	probably damaging	Het
Myo1c	C	T	11: 75,560,856 (GRCm39)	R770*	probably null	Het
Naip6	A	G	13: 100,431,239 (GRCm39)		probably null	Het
Nsmce3	A	T	7: 64,522,530 (GRCm39)	L46Q	probably benign	Het
Or1n2	G	A	2: 36,797,405 (GRCm39)	C149Y	probably benign	Het
Or2j6	T	G	7: 139,980,218 (GRCm39)	Y247S	probably damaging	Het
Or4k44	A	T	2: 111,368,280 (GRCm39)	M118K	probably damaging	Het
Or51e2	A	G	7: 102,391,808 (GRCm39)	V134A	probably damaging	Het
Or56a3b	T	C	7: 104,771,513 (GRCm39)	L283P	probably damaging	Het
Parp14	A	G	16: 35,678,691 (GRCm39)	F426L	probably benign	Het
Prpf3	T	A	3: 95,758,976 (GRCm39)	T59S	possibly damaging	Het
Ptgir	A	G	7: 16,640,794 (GRCm39)	M29V	possibly damaging	Het
Ptk7	A	G	17: 46,885,392 (GRCm39)	V678A	probably benign	Het
Rb1	A	G	14: 73,511,116 (GRCm39)	L331S	probably damaging	Het
Relch	A	G	1: 105,646,584 (GRCm39)	I637V	probably benign	Het
Sell	A	G	1: 163,893,042 (GRCm39)	Y86C	probably damaging	Het
Serpina1e	G	A	12: 103,914,341 (GRCm39)	R328W	probably damaging	Het
Sertad3	T	G	7: 27,176,091 (GRCm39)	L175R	possibly damaging	Het
Stard9	G	T	2: 120,529,121 (GRCm39)	G1793W	probably damaging	Het
Stra6	T	C	9: 58,056,517 (GRCm39)	I383T	probably benign	Het
Tcf7l1	A	G	6: 72,626,161 (GRCm39)	L154P	probably damaging	Het
Tent5c	C	A	3: 100,380,515 (GRCm39)	L80F	probably benign	Het
Tonsl	A	T	15: 76,507,610 (GRCm39)	D55E	probably benign	Het
Ttc21b	A	G	2: 66,057,257 (GRCm39)	S572P	possibly damaging	Het
Ttc7	T	A	17: 87,654,048 (GRCm39)	L575Q	probably damaging	Het
Ubl4b	C	T	3: 107,462,194 (GRCm39)	S22N	probably damaging	Het
Ubr4	T	C	4: 139,163,502 (GRCm39)	V2634A	possibly damaging	Het
Zbed6	A	G	1: 133,584,778 (GRCm39)	V853A	probably benign	Het
Zfp46	A	C	4: 136,017,484 (GRCm39)	D106A	probably damaging	Het
Zfp951	A	C	5: 104,962,567 (GRCm39)	I333S	probably benign	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
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
R8907:Pcf11	UTSW	7	92,302,451 (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'- GCAAATTGCCAAAGTTTCCAAACTG -3'
(R):5'- CCACAGAGGTTTGATGGACC -3'

Sequencing Primer
(F):5'- GTTTCCAAACTGAGAACTCTGAAG -3'
(R):5'- TTTGATGGACCACCTGGACAG -3'

Posted On

2015-10-08