Mutagenetix > Incidental Mutations

Incidental Mutation 'R1529:Cenpf'

166424

Institutional Source

Beutler Lab

Gene Symbol

Cenpf

Ensembl Gene

ENSMUSG00000026605

Gene Name

centromere protein F

Synonyms

mitosin, 6530404A22Rik, Lek1

Accession Numbers

Is this an essential gene?

Possibly essential (E-score: 0.594) question?

Stock #

R1529 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

189640606-189688086 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 189660038 bp

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glutamic Acid at position 532 (D532E)

Ref Sequence

ENSEMBL: ENSMUSP00000129738 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000165962] [ENSMUST00000171929]

Predicted Effect

probably benign
Transcript: ENSMUST00000165962
AA Change: D515E

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)

SMART Domains

Protein: ENSMUSP00000132759
Gene: ENSMUSG00000026605
AA Change: D515E

Domain	Start	End	E-Value	Type
Pfam:CENP-F_N	1	300	7.3e-135	PFAM
low complexity region	332	347	N/A	INTRINSIC
low complexity region	361	379	N/A	INTRINSIC
low complexity region	527	540	N/A	INTRINSIC
low complexity region	572	592	N/A	INTRINSIC
internal_repeat_1	737	759	3.18e-5	PROSPERO
internal_repeat_1	751	773	3.18e-5	PROSPERO
internal_repeat_2	789	804	5.94e-5	PROSPERO
coiled coil region	812	864	N/A	INTRINSIC
coiled coil region	885	923	N/A	INTRINSIC
low complexity region	925	936	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000171929
AA Change: D532E

PolyPhen 2 Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)

SMART Domains

Protein: ENSMUSP00000129738
Gene: ENSMUSG00000026605
AA Change: D532E

Domain	Start	End	E-Value	Type
Pfam:CENP-F_N	1	300	2.8e-144	PFAM
low complexity region	349	364	N/A	INTRINSIC
low complexity region	378	396	N/A	INTRINSIC
low complexity region	544	557	N/A	INTRINSIC
low complexity region	589	609	N/A	INTRINSIC
internal_repeat_5	678	707	8.32e-5	PROSPERO
internal_repeat_3	743	798	2.21e-5	PROSPERO
internal_repeat_1	780	812	2.12e-7	PROSPERO
coiled coil region	829	881	N/A	INTRINSIC
coiled coil region	902	1169	N/A	INTRINSIC
coiled coil region	1206	1364	N/A	INTRINSIC
internal_repeat_2	1381	1413	3.02e-6	PROSPERO
internal_repeat_3	1412	1470	2.21e-5	PROSPERO
low complexity region	1526	1542	N/A	INTRINSIC
coiled coil region	1560	1650	N/A	INTRINSIC
internal_repeat_2	1655	1687	3.02e-6	PROSPERO
low complexity region	1744	1755	N/A	INTRINSIC
coiled coil region	1822	1852	N/A	INTRINSIC
Pfam:CENP-F_leu_zip	1893	2035	1.2e-14	PFAM
Pfam:CENP-F_leu_zip	2131	2270	1.5e-47	PFAM
Pfam:CENP-F_leu_zip	2313	2449	1e-46	PFAM
low complexity region	2544	2555	N/A	INTRINSIC
low complexity region	2642	2654	N/A	INTRINSIC
low complexity region	2755	2769	N/A	INTRINSIC
internal_repeat_4	2778	2801	4.28e-5	PROSPERO
low complexity region	2837	2847	N/A	INTRINSIC
Pfam:CENP-F_C_Rb_bdg	2850	2896	6.6e-29	PFAM
internal_repeat_1	2935	2964	2.12e-7	PROSPERO
internal_repeat_4	2946	2969	4.28e-5	PROSPERO

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 96.8%
20x: 94.3%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a protein that associates with the centromere-kinetochore complex. The protein is a component of the nuclear matrix during the G2 phase of interphase. In late G2 the protein associates with the kinetochore and maintains this association through early anaphase. It localizes to the spindle midzone and the intracellular bridge in late anaphase and telophase, respectively, and is thought to be subsequently degraded. The localization of this protein suggests that it may play a role in chromosome segregation during mitotis. It is thought to form either a homodimer or heterodimer. Autoantibodies against this protein have been found in patients with cancer or graft versus host disease. [provided by RefSeq, Jul 2008]

Allele List at MGI

Other mutations in this stock

Total: 82 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700001C19Rik	G	A	17: 47,413,890	S102L	probably benign	Het
A430105I19Rik	T	A	2: 118,761,760		probably null	Het
Adam11	T	C	11: 102,775,113		probably null	Het
AI314180	T	C	4: 58,832,701		probably null	Het
Amd1	A	T	10: 40,290,505	M194K	probably benign	Het
Ap1b1	T	G	11: 5,039,547	F793C	probably damaging	Het
Arfgef3	G	A	10: 18,613,222	R1292*	probably null	Het
Arhgef5	C	A	6: 43,279,515	H1186N	probably damaging	Het
Atad1	A	G	19: 32,706,921	F26L	probably benign	Het
Atg2b	C	T	12: 105,661,133	V532I	probably benign	Het
Atp2b4	A	G	1: 133,717,988	F943L	probably damaging	Het
Atp7b	G	A	8: 22,028,724	L21F	possibly damaging	Het
Ckmt2	A	T	13: 91,861,201	D202E	probably benign	Het
Crim1	A	C	17: 78,367,954	K864T	probably benign	Het
Ctnnd2	A	G	15: 30,887,121	R765G	possibly damaging	Het
Ddx10	T	A	9: 53,117,199	R802*	probably null	Het
Dnah7b	T	A	1: 46,177,281	F1152L	probably damaging	Het
Dsg1c	T	C	18: 20,282,023	L659P	probably damaging	Het
Dzank1	A	G	2: 144,482,188	F577L	probably benign	Het
Eci3	T	C	13: 34,956,920	D93G	probably benign	Het
Ep400	C	A	5: 110,739,445	V591L	probably benign	Het
Fam126b	A	T	1: 58,539,607	D261E	probably benign	Het
Fgd3	T	C	13: 49,266,694	N569S	probably benign	Het
Ghsr	T	A	3: 27,372,482	V229E	probably damaging	Het
Gm8298	T	C	3: 59,861,112	I21T	probably benign	Het
Gna15	T	A	10: 81,509,342	I230F	probably damaging	Het
Gnl2	A	G	4: 125,046,306	S324G	probably damaging	Het
Grid1	T	C	14: 35,309,293	V281A	probably benign	Het
Hebp2	G	A	10: 18,545,761	A12V	possibly damaging	Het
Hfm1	T	C	5: 106,853,123	D1254G	probably benign	Het
Hif3a	A	C	7: 17,042,639	S459A	probably benign	Het
Hnrnpl	T	A	7: 28,813,923	N149K	possibly damaging	Het
Hoxc10	A	T	15: 102,967,200	S115C	probably damaging	Het
Ifnab	T	C	4: 88,691,055	D58G	possibly damaging	Het
Itfg1	T	C	8: 85,810,614	T195A	probably benign	Het
Itpr3	T	A	17: 27,105,485		probably null	Het
Iws1	A	G	18: 32,080,281	D254G	probably benign	Het
Kl	C	A	5: 150,988,941	D718E	probably benign	Het
Lrit2	A	G	14: 37,068,827	I154M	probably benign	Het
Lrp2	T	C	2: 69,523,182	D578G	probably damaging	Het
Lss	T	G	10: 76,536,289	Y159*	probably null	Het
Mab21l1	C	A	3: 55,783,833	Y280*	probably null	Het
Maf	A	T	8: 115,693,170	S378T	probably benign	Het
Mast2	C	T	4: 116,430,519	V59I	probably benign	Het
Nisch	C	T	14: 31,180,938		probably benign	Het
Nova2	A	T	7: 18,957,554	N139Y	probably damaging	Het
Nup210	C	A	6: 91,036,376	D434Y	probably damaging	Het
Nvl	C	T	1: 181,109,159		probably null	Het
Olfr1049	A	T	2: 86,255,241	Y151N	probably damaging	Het
Olfr1087	A	G	2: 86,690,333	V214A	possibly damaging	Het
Olfr577	A	G	7: 102,973,879	Y38H	probably damaging	Het
Olfr657	A	G	7: 104,636,489	T272A	probably benign	Het
Olfr743	T	C	14: 50,533,702	S97P	possibly damaging	Het
Pbx3	T	C	2: 34,204,859	Y255C	probably damaging	Het
Pcyt1a	G	A	16: 32,451,793	E27K	possibly damaging	Het
Pex6	A	T	17: 46,714,064	T348S	probably benign	Het
Phf21b	A	G	15: 84,797,396	I251T	probably damaging	Het
Pkd2l2	T	C	18: 34,430,702	I490T	probably damaging	Het
Pla2g12a	T	A	3: 129,878,885	L56Q	probably damaging	Het
Plk4	A	G	3: 40,806,536	T434A	probably benign	Het
Ptpn13	A	G	5: 103,564,132	N1632S	probably benign	Het
Rfpl4	C	T	7: 5,110,712	V151M	probably damaging	Het
Rpain	G	C	11: 70,974,915	E169Q	probably damaging	Het
Samd8	T	A	14: 21,775,159	V124D	possibly damaging	Het
Sdk2	C	T	11: 113,838,646		silent	Het
Slc12a1	C	T	2: 125,190,295	T622I	probably damaging	Het
Slc17a3	T	A	13: 23,845,445	V67D	probably damaging	Het
Slc41a3	G	T	6: 90,644,216	V387L	probably damaging	Het
Slitrk1	T	A	14: 108,913,277	M1L	probably benign	Het
Stat4	T	C	1: 52,011,793	W4R	probably damaging	Het
Tas2r126	A	G	6: 42,434,568	T12A	probably benign	Het
Tbc1d24	A	G	17: 24,185,979	C64R	probably damaging	Het
Tcaf2	T	C	6: 42,629,506	S505G	probably benign	Het
Tiam2	T	C	17: 3,516,703	V1506A	probably benign	Het
Tmem9b	A	C	7: 109,736,949	S163A	probably benign	Het
Tmtc2	G	A	10: 105,303,658	S669L	probably damaging	Het
Tnpo3	A	T	6: 29,560,221	I641K	possibly damaging	Het
Ttn	C	T	2: 76,735,367	A28214T	probably damaging	Het
Utp11	G	A	4: 124,683,239	A113V	probably benign	Het
Utp20	G	A	10: 88,753,006	R2434C	probably damaging	Het
Vmn1r60	A	T	7: 5,544,903	I66N	probably benign	Het
Zeb2	T	C	2: 44,997,194	E572G	probably damaging	Het

Other mutations in Cenpf

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00778:Cenpf	APN	1	189654912	missense	probably benign	0.01
IGL01154:Cenpf	APN	1	189680333	missense	probably benign	0.19
IGL01434:Cenpf	APN	1	189657868	nonsense	probably null
IGL01461:Cenpf	APN	1	189657096	missense	probably damaging	1.00
IGL01615:Cenpf	APN	1	189653184	missense	possibly damaging	0.68
IGL01720:Cenpf	APN	1	189682386	missense	probably benign	0.05
IGL01720:Cenpf	APN	1	189651215	missense	probably damaging	0.99
IGL01803:Cenpf	APN	1	189654771	nonsense	probably null
IGL02152:Cenpf	APN	1	189649012	missense	probably benign
IGL02222:Cenpf	APN	1	189654444	missense	probably benign
IGL02338:Cenpf	APN	1	189680418	missense	probably damaging	1.00
IGL02580:Cenpf	APN	1	189657441	missense	probably benign	0.20
IGL02629:Cenpf	APN	1	189652334	missense	probably damaging	1.00
IGL02650:Cenpf	APN	1	189652473	missense	possibly damaging	0.91
IGL02660:Cenpf	APN	1	189654782	missense	probably damaging	1.00
IGL02703:Cenpf	APN	1	189659758	missense	probably benign	0.14
IGL02809:Cenpf	APN	1	189682358	splice site	probably benign
IGL02851:Cenpf	APN	1	189658030	missense	probably damaging	1.00
IGL02903:Cenpf	APN	1	189646876	missense	probably damaging	0.99
IGL03126:Cenpf	APN	1	189659010	missense	probably damaging	1.00
IGL03235:Cenpf	APN	1	189683927	missense	probably damaging	1.00
IGL03336:Cenpf	APN	1	189652647	missense	probably damaging	0.99
IGL03402:Cenpf	APN	1	189655076	missense	probably damaging	1.00
IGL02799:Cenpf	UTSW	1	189659652	missense	probably damaging	1.00
R0011:Cenpf	UTSW	1	189650706	missense	probably benign	0.05
R0129:Cenpf	UTSW	1	189659650	missense	probably benign	0.26
R0157:Cenpf	UTSW	1	189652359	missense	probably benign	0.07
R0270:Cenpf	UTSW	1	189650714	missense	probably benign	0.01
R0607:Cenpf	UTSW	1	189682463	splice site	probably null
R0621:Cenpf	UTSW	1	189672628	missense	probably benign
R0639:Cenpf	UTSW	1	189658062	missense	probably benign	0.01
R0653:Cenpf	UTSW	1	189659986	missense	probably damaging	1.00
R0718:Cenpf	UTSW	1	189653984	missense	probably damaging	1.00
R1157:Cenpf	UTSW	1	189658453	missense	probably benign	0.20
R1331:Cenpf	UTSW	1	189642801	missense	probably damaging	0.99
R1463:Cenpf	UTSW	1	189654739	missense	probably damaging	0.97
R1514:Cenpf	UTSW	1	189679141	missense	possibly damaging	0.67
R1574:Cenpf	UTSW	1	189652713	missense	probably damaging	1.00
R1574:Cenpf	UTSW	1	189652713	missense	probably damaging	1.00
R1662:Cenpf	UTSW	1	189657771	missense	probably damaging	0.99
R1671:Cenpf	UTSW	1	189679144	splice site	probably null
R1725:Cenpf	UTSW	1	189680479	missense	probably damaging	0.99
R1743:Cenpf	UTSW	1	189654263	missense	probably benign	0.19
R1874:Cenpf	UTSW	1	189683816	missense	probably damaging	1.00
R1884:Cenpf	UTSW	1	189646849	missense	probably benign
R1980:Cenpf	UTSW	1	189653915	missense	probably benign	0.04
R2074:Cenpf	UTSW	1	189656901	missense	probably damaging	1.00
R2096:Cenpf	UTSW	1	189653459	missense	possibly damaging	0.95
R2109:Cenpf	UTSW	1	189679067	missense	probably damaging	0.99
R2113:Cenpf	UTSW	1	189679102	missense	probably damaging	0.96
R2134:Cenpf	UTSW	1	189658642	missense	probably benign	0.03
R2209:Cenpf	UTSW	1	189652598	missense	probably benign	0.04
R2875:Cenpf	UTSW	1	189658644	missense	probably benign	0.11
R2876:Cenpf	UTSW	1	189658644	missense	probably benign	0.11
R3433:Cenpf	UTSW	1	189659949	missense	probably damaging	0.99
R3709:Cenpf	UTSW	1	189648812	missense	possibly damaging	0.72
R3786:Cenpf	UTSW	1	189658337	missense	probably damaging	1.00
R4014:Cenpf	UTSW	1	189653159	missense	probably benign	0.01
R4108:Cenpf	UTSW	1	189683868	missense	probably damaging	1.00
R4119:Cenpf	UTSW	1	189653045	missense	probably benign	0.01
R4177:Cenpf	UTSW	1	189668619	missense	possibly damaging	0.95
R4422:Cenpf	UTSW	1	189658350	missense	probably damaging	1.00
R4546:Cenpf	UTSW	1	189654650	missense	probably damaging	1.00
R4592:Cenpf	UTSW	1	189679033	missense	probably damaging	1.00
R4643:Cenpf	UTSW	1	189659589	missense	probably benign	0.00
R4650:Cenpf	UTSW	1	189660038	missense	probably benign	0.00
R4801:Cenpf	UTSW	1	189651220	missense	probably damaging	1.00
R4802:Cenpf	UTSW	1	189651220	missense	probably damaging	1.00
R4817:Cenpf	UTSW	1	189682369	missense	possibly damaging	0.93
R4871:Cenpf	UTSW	1	189658531	missense	probably damaging	1.00
R5037:Cenpf	UTSW	1	189683846	missense	probably damaging	1.00
R5106:Cenpf	UTSW	1	189683808	missense	probably benign	0.00
R5208:Cenpf	UTSW	1	189671046	critical splice donor site	probably null
R5213:Cenpf	UTSW	1	189654980	missense	probably benign	0.04
R5237:Cenpf	UTSW	1	189659533	missense	probably benign	0.28
R5255:Cenpf	UTSW	1	189672627	missense	possibly damaging	0.49
R5378:Cenpf	UTSW	1	189653466	missense	possibly damaging	0.95
R5468:Cenpf	UTSW	1	189652371	missense	probably damaging	1.00
R5510:Cenpf	UTSW	1	189682903	missense	probably benign	0.14
R5616:Cenpf	UTSW	1	189657286	missense	probably damaging	1.00
R5652:Cenpf	UTSW	1	189657082	missense	probably damaging	0.99
R5735:Cenpf	UTSW	1	189654363	missense	probably benign	0.10
R5841:Cenpf	UTSW	1	189657444	missense	possibly damaging	0.90
R5943:Cenpf	UTSW	1	189659969	missense	possibly damaging	0.75
R6082:Cenpf	UTSW	1	189658104	missense	probably benign	0.11
R6108:Cenpf	UTSW	1	189662013	missense	probably benign	0.03
R6269:Cenpf	UTSW	1	189659920	missense	probably benign	0.37
R6284:Cenpf	UTSW	1	189652742	missense	probably damaging	1.00
R6425:Cenpf	UTSW	1	189659898	missense	probably benign	0.09
R6587:Cenpf	UTSW	1	189658374	missense	probably damaging	1.00
R6747:Cenpf	UTSW	1	189652854	missense	probably benign	0.15
R6811:Cenpf	UTSW	1	189654542	missense	probably benign	0.06
R6834:Cenpf	UTSW	1	189659446	missense	probably damaging	1.00
R6951:Cenpf	UTSW	1	189653792	missense	probably damaging	1.00
R7095:Cenpf	UTSW	1	189659176	missense	probably benign	0.01
R7128:Cenpf	UTSW	1	189684991	missense	probably damaging	1.00
R7185:Cenpf	UTSW	1	189653489	missense	probably damaging	1.00
R7292:Cenpf	UTSW	1	189650694	missense	probably damaging	1.00
R7353:Cenpf	UTSW	1	189654138	nonsense	probably null
R7402:Cenpf	UTSW	1	189659378	nonsense	probably null
R7460:Cenpf	UTSW	1	189654050	missense	probably damaging	0.97
R7484:Cenpf	UTSW	1	189656821	missense	probably damaging	1.00
R7574:Cenpf	UTSW	1	189658667	missense	probably damaging	1.00
R7691:Cenpf	UTSW	1	189658207	nonsense	probably null
R7698:Cenpf	UTSW	1	189662072	missense	probably benign	0.01
RF006:Cenpf	UTSW	1	189657386	missense	probably damaging	1.00
X0025:Cenpf	UTSW	1	189653874	missense	possibly damaging	0.79
X0066:Cenpf	UTSW	1	189657929	missense	probably benign	0.23
Z1088:Cenpf	UTSW	1	189652931	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- CCTTCTGATGCTTTTGGTCCGAGGA -3'
(R):5'- TGTCAAGTTTTACAGGATGTGACAGCC -3'

Sequencing Primer
(F):5'- TTCTCTCATTAGAGTCAGGACTTAC -3'
(R):5'- CAGGATGTGACAGCCtattaatttc -3'

Posted On

2014-04-13