Mutagenetix > Incidental Mutation

Incidental Mutation 'R1952:Pcf11'

217378

Institutional Source

Beutler Lab

Gene Symbol

Pcf11

Ensembl Gene

ENSMUSG00000041328

Gene Name

PCF11 cleavage and polyadenylation factor subunit

Synonyms

5730417B17Rik, 2500001H09Rik

MMRRC Submission

039966-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.961) question?

Stock #

R1952 (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 92310546 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Threonine at position 481 (S481T)

Ref Sequence

ENSEMBL: ENSMUSP00000113717 (fasta)

Gene Model

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

AlphaFold

G3X9Z4

Predicted Effect

probably damaging
Transcript: ENSMUST00000119954
AA Change: S481T

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000113717
Gene: ENSMUSG00000041328
AA Change: S481T

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: S272T

SMART Domains

Protein: ENSMUSP00000115278
Gene: ENSMUSG00000041328
AA Change: S272T

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: 99.1%
3x: 98.4%
10x: 96.7%
20x: 93.9%

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: 75 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700024G13Rik	A	G	14: 32,110,293 (GRCm39)	V6A	possibly damaging	Het
Accsl	G	T	2: 93,689,778 (GRCm39)	H376Q	probably damaging	Het
Adgrg1	T	C	8: 95,735,119 (GRCm39)		probably null	Het
Alyref	C	G	11: 120,486,758 (GRCm39)	V168L	probably damaging	Het
Ankrd12	T	C	17: 66,338,566 (GRCm39)	D128G	probably damaging	Het
Bcl2l14	A	G	6: 134,409,329 (GRCm39)	Y301C	probably damaging	Het
Camsap3	A	G	8: 3,654,789 (GRCm39)	T804A	probably damaging	Het
Capn11	A	T	17: 45,953,885 (GRCm39)	W154R	probably damaging	Het
Cd44	T	A	2: 102,683,432 (GRCm39)	T201S	probably damaging	Het
Cers4	G	A	8: 4,573,461 (GRCm39)	W319*	probably null	Het
Col27a1	T	A	4: 63,202,130 (GRCm39)		probably null	Het
Crnkl1	G	A	2: 145,770,120 (GRCm39)	A241V	probably damaging	Het
Cyp2c68	T	C	19: 39,700,972 (GRCm39)	Y282C	probably benign	Het
Dmd	T	A	X: 82,874,123 (GRCm39)	I1342N	probably damaging	Het
Dusp7	T	A	9: 106,248,028 (GRCm39)	C219S	probably benign	Het
Epha7	A	G	4: 28,950,474 (GRCm39)	N759S	probably damaging	Het
Fat1	T	C	8: 45,486,963 (GRCm39)	V3413A	probably benign	Het
Gls2	A	G	10: 128,045,231 (GRCm39)	H576R	probably benign	Het
Gm4884	G	A	7: 40,693,671 (GRCm39)	V547M	probably benign	Het
Hap1	A	G	11: 100,243,105 (GRCm39)	V174A	probably damaging	Het
Il12rb2	A	G	6: 67,269,300 (GRCm39)	S838P	probably damaging	Het
Ints8	T	C	4: 11,221,150 (GRCm39)	I742V	probably benign	Het
Katnal2	G	T	18: 77,067,707 (GRCm39)	S411R	probably benign	Het
Lrp1	A	C	10: 127,403,300 (GRCm39)	V2091G	probably damaging	Het
Mettl21c	A	T	1: 44,056,368 (GRCm39)	D20E	probably damaging	Het
Mib1	A	T	18: 10,812,077 (GRCm39)	E991D	possibly damaging	Het
Mip	T	C	10: 128,061,772 (GRCm39)	S8P	possibly damaging	Het
Mllt6	T	C	11: 97,568,048 (GRCm39)	S826P	probably damaging	Het
Mlst8	AT	ATT	17: 24,696,987 (GRCm39)		probably null	Het
Myrfl	C	T	10: 116,658,716 (GRCm39)	V414I	probably benign	Het
Nbeal1	T	C	1: 60,273,999 (GRCm39)	V409A	probably damaging	Het
Nin	T	A	12: 70,077,700 (GRCm39)	Q1035L	probably damaging	Het
Nlgn1	T	A	3: 25,490,464 (GRCm39)	D421V	probably damaging	Het
Nlrp10	A	G	7: 108,523,770 (GRCm39)	V570A	probably benign	Het
Olfm3	A	T	3: 114,895,589 (GRCm39)	E157V	probably null	Het
Or8g24	T	A	9: 38,989,580 (GRCm39)	I154F	probably benign	Het
Or8g37	T	C	9: 39,731,363 (GRCm39)	S143P	probably benign	Het
Otud7a	A	G	7: 63,300,624 (GRCm39)	D21G	probably damaging	Het
Pax2	A	G	19: 44,777,271 (GRCm39)	T155A	probably benign	Het
Prkab2	T	C	3: 97,573,943 (GRCm39)	V194A	probably benign	Het
Prl3a1	G	A	13: 27,454,136 (GRCm39)	G38E	possibly damaging	Het
Psmb8	T	C	17: 34,419,884 (GRCm39)	V246A	probably damaging	Het
Ptpn12	A	T	5: 21,203,308 (GRCm39)	V490E	probably benign	Het
Ptprm	A	T	17: 67,247,575 (GRCm39)	S587T	probably benign	Het
Qars1	G	A	9: 108,390,380 (GRCm39)	R427H	probably benign	Het
R3hdml	T	C	2: 163,340,216 (GRCm39)	F128L	probably benign	Het
Rapgef4	A	G	2: 72,038,471 (GRCm39)	M541V	probably benign	Het
Rhbdf1	G	A	11: 32,164,277 (GRCm39)	R234*	probably null	Het
Rufy1	A	T	11: 50,297,233 (GRCm39)	D406E	probably benign	Het
Satb1	A	T	17: 52,047,173 (GRCm39)	L683Q	probably damaging	Het
Satb2	T	C	1: 56,938,229 (GRCm39)	T132A	probably damaging	Het
Sbspon	A	G	1: 15,930,519 (GRCm39)	S156P	probably damaging	Het
Shb	A	T	4: 45,458,347 (GRCm39)		probably null	Het
She	A	G	3: 89,756,792 (GRCm39)	K282R	possibly damaging	Het
Slc25a13	A	G	6: 6,152,482 (GRCm39)	L85P	probably damaging	Het
Slc7a13	A	T	4: 19,841,578 (GRCm39)	H475L	probably benign	Het
Sorl1	C	T	9: 41,957,920 (GRCm39)	V575I	probably benign	Het
Spag9	T	A	11: 93,988,184 (GRCm39)	C833S	possibly damaging	Het
Speer2	A	C	16: 69,654,052 (GRCm39)	N232K	probably damaging	Het
Syncrip	A	T	9: 88,358,927 (GRCm39)	M194K	probably damaging	Het
Sytl3	A	C	17: 6,995,732 (GRCm39)	T171P	probably damaging	Het
Taar7f	T	A	10: 23,925,747 (GRCm39)	Y114N	probably damaging	Het
Tamalin	T	C	15: 101,122,381 (GRCm39)	Y67H	probably benign	Het
Tap1	C	G	17: 34,412,481 (GRCm39)	P506R	probably damaging	Het
Tle6	T	C	10: 81,431,319 (GRCm39)	D212G	possibly damaging	Het
Trim80	G	T	11: 115,332,155 (GRCm39)	E116*	probably null	Het
Ttll4	A	G	1: 74,726,718 (GRCm39)	R745G	probably damaging	Het
Vdac2	A	T	14: 21,887,947 (GRCm39)	I85F	possibly damaging	Het
Vmn1r188	A	G	13: 22,272,309 (GRCm39)	R88G	probably damaging	Het
Washc2	T	C	6: 116,232,052 (GRCm39)	S821P	possibly damaging	Het
Wdhd1	T	C	14: 47,507,647 (GRCm39)	Y213C	probably damaging	Het
Wdr55	C	A	18: 36,893,437 (GRCm39)	P33Q	probably damaging	Het
Yrdc	C	T	4: 124,745,739 (GRCm39)	A32V	probably benign	Het
Zfp608	T	A	18: 55,030,851 (GRCm39)	K1030*	probably null	Het
Zfp618	T	A	4: 63,050,555 (GRCm39)		probably null	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
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
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'- GGATCTCTAACATCCTGCTTAGC -3'
(R):5'- TTCAGGATAAAGCTGAGGGC -3'

Sequencing Primer
(F):5'- AACATCCTGCTTAGCACTTCTC -3'
(R):5'- CAGGATAAAGCTGAGGGCAAAGATG -3'

Posted On

2014-08-01