Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02658:Pcf11'

302419

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Pcf11

Ensembl Gene

ENSMUSG00000041328

Gene Name

PCF11 cleavage and polyadenylation factor subunit

Synonyms

2500001H09Rik, 5730417B17Rik

Accession Numbers

Genbank: NM_029078; MGI: 1919579

Is this an essential gene?

Probably essential (E-score: 0.962) question?

Stock #

IGL02658

Quality Score

Status

Chromosome

Chromosomal Location

92643543-92669934 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 92647046 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Glycine at position 1322 (E1322G)

Gene Model

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

AlphaFold

G3X9Z4

Predicted Effect

probably damaging
Transcript: ENSMUST00000119954
AA Change: E1400G

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

SMART Domains

Protein: ENSMUSP00000113717
Gene: ENSMUSG00000041328
AA Change: E1400G

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

noncoding transcript
Transcript: ENSMUST00000148539

Predicted Effect

probably damaging
Transcript: ENSMUST00000151177
AA Change: E1322G

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

SMART Domains

Protein: ENSMUSP00000115278
Gene: ENSMUSG00000041328
AA Change: E1322G

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000182265

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000192772

Coding Region Coverage

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: 43 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca8b	T	A	11: 109,952,560	Y946F	probably benign	Het
Abcb4	T	G	5: 8,934,240	W657G	probably benign	Het
Adcy1	T	C	11: 7,138,279		probably benign	Het
Arap3	A	G	18: 37,990,994	V351A	probably benign	Het
Bpifb9b	A	C	2: 154,311,281	Y89S	probably benign	Het
Carns1	C	T	19: 4,173,084	C47Y	probably benign	Het
Chd5	C	T	4: 152,360,593	H344Y	probably damaging	Het
Ctnna2	T	C	6: 76,980,824	T481A	probably benign	Het
Cyth1	T	A	11: 118,182,246	D264V	probably damaging	Het
Dph1	C	A	11: 75,180,635	L311F	probably benign	Het
Eif3l	A	G	15: 79,076,942	D65G	probably damaging	Het
Gtf2a1l	T	A	17: 88,668,718	F3Y	probably benign	Het
Hcn4	A	T	9: 58,859,465	T770S	unknown	Het
Hydin	A	T	8: 110,413,276	I726F	possibly damaging	Het
Klf2	A	G	8: 72,319,096	I7V	probably benign	Het
Ltn1	A	T	16: 87,415,774	L633H	probably damaging	Het
Ncoa3	A	G	2: 166,051,393	D206G	probably benign	Het
Nlrp4a	T	G	7: 26,449,713	D248E	probably benign	Het
Nyap1	A	G	5: 137,735,484	I429T	probably damaging	Het
Olfr1370	G	A	13: 21,072,812	T163I	probably damaging	Het
Olfr285	A	G	15: 98,313,356	S65P	probably damaging	Het
Olfr338	T	A	2: 36,377,060	C95S	probably damaging	Het
Olfr578	A	G	7: 102,984,330	M278T	probably benign	Het
Olfr720	T	A	14: 14,175,732	M117L	possibly damaging	Het
Plcxd2	A	T	16: 45,972,326	F217I	probably benign	Het
Plxna4	A	T	6: 32,185,411	I1389N	probably damaging	Het
Ppp1r15a	T	C	7: 45,524,667	Y239C	probably benign	Het
Psma6	A	G	12: 55,412,211	E126G	probably benign	Het
R3hcc1l	T	A	19: 42,562,702	V46E	probably damaging	Het
Rap1gds1	G	T	3: 138,957,479	H320N	probably damaging	Het
Sdhaf3	A	G	6: 7,038,992	M105V	probably damaging	Het
Slc22a26	T	A	19: 7,788,248	N345I	probably benign	Het
Sncaip	T	C	18: 52,894,955	I412T	possibly damaging	Het
Sorcs1	A	T	19: 50,190,092	I864N	probably damaging	Het
Spag5	C	T	11: 78,321,331	Q1062*	probably null	Het
Srrm1	G	A	4: 135,325,104	P658L	unknown	Het
Szrd1	A	G	4: 141,139,746		probably benign	Het
Tns2	C	A	15: 102,107,796		probably benign	Het
Trcg1	C	A	9: 57,242,228	S361*	probably null	Het
Tshz3	T	C	7: 36,769,158	F191L	probably damaging	Het
Ttc39a	T	C	4: 109,422,893	V124A	probably damaging	Het
Ttf1	T	C	2: 29,074,011	I633T	probably damaging	Het
Zfp691	A	G	4: 119,170,507	F176S	probably damaging	Het

Other mutations in Pcf11

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01160:Pcf11	APN	7	92661686	missense	possibly damaging	0.51
IGL02439:Pcf11	APN	7	92661841	missense	possibly damaging	0.93
IGL02702:Pcf11	APN	7	92661618	missense	possibly damaging	0.76
3-1:Pcf11	UTSW	7	92658518	missense	probably damaging	1.00
R0015:Pcf11	UTSW	7	92658317	missense	probably benign	0.28
R0015:Pcf11	UTSW	7	92658317	missense	probably benign	0.28
R0078:Pcf11	UTSW	7	92669559	missense	possibly damaging	0.90
R0110:Pcf11	UTSW	7	92657831	missense	probably damaging	1.00
R0373:Pcf11	UTSW	7	92661215	missense	probably benign
R0450:Pcf11	UTSW	7	92657831	missense	probably damaging	1.00
R1717:Pcf11	UTSW	7	92663585	missense	probably benign	0.00
R1952:Pcf11	UTSW	7	92661338	missense	probably damaging	1.00
R1965:Pcf11	UTSW	7	92661601	missense	probably benign
R2045:Pcf11	UTSW	7	92661879	missense	probably damaging	1.00
R2245:Pcf11	UTSW	7	92665872	unclassified	probably benign
R3824:Pcf11	UTSW	7	92659620	intron	probably benign
R4439:Pcf11	UTSW	7	92658017	missense	probably damaging	0.99
R4517:Pcf11	UTSW	7	92646488	missense	probably damaging	1.00
R4671:Pcf11	UTSW	7	92657529	missense	possibly damaging	0.62
R4674:Pcf11	UTSW	7	92659777	intron	probably benign
R4675:Pcf11	UTSW	7	92659777	intron	probably benign
R4732:Pcf11	UTSW	7	92658833	missense	probably benign	0.33
R4733:Pcf11	UTSW	7	92658833	missense	probably benign	0.33
R4758:Pcf11	UTSW	7	92661175	missense	probably damaging	0.97
R4985:Pcf11	UTSW	7	92661902	missense	probably benign	0.01
R5041:Pcf11	UTSW	7	92658405	missense	probably benign	0.00
R5248:Pcf11	UTSW	7	92661491	missense	probably damaging	1.00
R5688:Pcf11	UTSW	7	92658808	missense	possibly damaging	0.92
R5814:Pcf11	UTSW	7	92657714	missense	probably benign	0.00
R6240:Pcf11	UTSW	7	92646502	missense	probably damaging	1.00
R6327:Pcf11	UTSW	7	92659609	intron	probably benign
R6615:Pcf11	UTSW	7	92657882	missense	probably damaging	0.96
R6795:Pcf11	UTSW	7	92657578	missense	probably benign	0.04
R6896:Pcf11	UTSW	7	92649551	missense	probably damaging	0.99
R6902:Pcf11	UTSW	7	92658299	missense	probably damaging	0.99
R7030:Pcf11	UTSW	7	92657678	missense	probably benign	0.21
R7135:Pcf11	UTSW	7	92657316	missense	probably benign	0.05
R7162:Pcf11	UTSW	7	92664013	missense	probably damaging	0.97
R7210:Pcf11	UTSW	7	92663476	missense	probably benign
R7243:Pcf11	UTSW	7	92660060	missense	probably damaging	1.00
R7362:Pcf11	UTSW	7	92653245	missense	possibly damaging	0.83
R7876:Pcf11	UTSW	7	92661326	missense	probably damaging	1.00
R8208:Pcf11	UTSW	7	92649523	missense	probably damaging	1.00
R8212:Pcf11	UTSW	7	92659498	missense	probably damaging	0.97
R8515:Pcf11	UTSW	7	92658790	missense	possibly damaging	0.92
R8534:Pcf11	UTSW	7	92653224	missense	probably benign	0.00
R8907:Pcf11	UTSW	7	92653243	missense	probably benign	0.00
R9307:Pcf11	UTSW	7	92657326	missense	possibly damaging	0.81
R9585:Pcf11	UTSW	7	92661798	missense	not run

Posted On

2015-04-16