Mutagenetix > Incidental Mutations

Incidental Mutation 'RF006:Cenpf'

602804

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: 0.579) question?

Stock #

RF006 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

189640606-189688086 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to C at 189657386 bp

Zygosity

Heterozygous

Amino Acid Change

Cysteine to Tryptophan at position 1416 (C1416W)

Ref Sequence

ENSEMBL: ENSMUSP00000129738 (fasta)

Gene Model

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

Predicted Effect

probably benign
Transcript: ENSMUST00000165962

SMART Domains

Protein: ENSMUSP00000132759
Gene: ENSMUSG00000026605

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 damaging
Transcript: ENSMUST00000171929
AA Change: C1416W

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

SMART Domains

Protein: ENSMUSP00000129738
Gene: ENSMUSG00000026605
AA Change: C1416W

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: 99.8%
3x: 99.7%
10x: 99.3%
20x: 98.5%

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: 55 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700057G04Rik	A	T	9: 92,352,649	I146F	possibly damaging	Het
4930548H24Rik	C	T	5: 31,487,550	Q216*	probably null	Het
Acbd7	GTT	GT	2: 3,340,699		probably null	Het
Acp7	A	T	7: 28,614,779	N330K	possibly damaging	Het
Adam25	A	T	8: 40,755,797	H700L	probably benign	Het
Alg9	GGGTGG	GGGTGGTGG	9: 50,775,417		probably benign	Het
Atp8b3	A	T	10: 80,526,236	V689E	probably benign	Het
Atxn2l	A	G	7: 126,495,891	V533A	probably benign	Het
C87414	A	T	5: 93,636,703	C301S	probably benign	Het
Catsperb	G	A	12: 101,575,979		probably null	Het
Ccdc13	T	C	9: 121,814,207	K376R	probably damaging	Het
Ccdc170	C	CCAA	10: 4,561,030		probably benign	Het
Cdh9	G	C	15: 16,855,830	R652P	probably damaging	Het
Chga	GCA	GCATCA	12: 102,561,412		probably benign	Het
Cyb5r4	TGTGACAGACACACTGCCCAGGGAAG	TGTGACAGACACACTGCCCAGGGAAGTGACAGACACACTGCCCAGGGAAG	9: 87,040,425		probably benign	Het
Cyb5r4	CCCAGGGA	CCCAGGGATGTGAGAGACACGCTGGCCAGGGA	9: 87,040,441		probably benign	Het
Dennd3	T	C	15: 73,547,592	I744T	probably damaging	Het
Dnah1	C	T	14: 31,307,875	R491Q	probably benign	Het
Eif4a2	A	T	16: 23,110,278	M188L	possibly damaging	Het
Esf1	CTCCTCTTC	CTC	2: 140,164,374		probably benign	Het
Fat3	T	C	9: 15,998,617	I2030V	probably benign	Het
Gab3	CTT	CTTTTT	X: 75,000,027		probably benign	Het
Gins4	A	T	8: 23,227,167	V195E	possibly damaging	Het
Gm17402	TCCTCCTCC	TCCTCCTCCCCCTCCTCC	3: 67,365,559		probably benign	Het
Gm17604	CTCTCTTTC	CTC	X: 165,003,818		probably null	Het
Gm8369	GTGTGT	GTGTGTTTGTGT	19: 11,511,764		probably benign	Het
Inpp4a	A	C	1: 37,388,827	N651T	possibly damaging	Het
Ireb2	T	C	9: 54,881,484	F81L	possibly damaging	Het
Kcnh3	T	A	15: 99,239,928		probably null	Het
Kmt2b	CTCCTC	CTCCTCATCCTC	7: 30,586,377		probably benign	Het
Kmt2c	TG	TGCTGTGG	5: 25,315,772		probably benign	Het
Myt1	T	C	2: 181,797,773	S405P	probably damaging	Het
Net1	T	C	13: 3,887,406	T245A	probably benign	Het
Nkx2-1	T	C	12: 56,533,547	T203A	probably damaging	Het
Oas3	T	C	5: 120,774,100	E75G	probably damaging	Het
Pappa	T	A	4: 65,323,873	D1491E	probably benign	Het
Pkhd1l1	C	A	15: 44,503,238	T704K	probably benign	Het
Pkhd1l1	TT	TTTTTTTTTGT	15: 44,558,507		probably benign	Het
Ppp1r8	TCTCTCAC	TC	4: 132,830,617		probably benign	Het
Ppp2r3c	T	A	12: 55,293,815	I157F	probably benign	Het
Rtn4	T	C	11: 29,706,919	S358P	possibly damaging	Het
Siglecg	T	A	7: 43,408,864	Y58*	probably null	Het
Slc4a1	C	T	11: 102,356,716		probably null	Het
Slc9b1	CGAAGGAACCAGAAAGGAAGGAACCAGAAAGGAAGGAACCAGAAAGGAAGGAACCAGAAAGGAAGGAACCAGAAAGGAAGG	CGAAGGAACCAGAAAGGAAGGAACCAGAAAGGAAGGAACCAGAAAGGAAGG	3: 135,357,542		probably benign	Het
Smc2	T	A	4: 52,442,276	D64E	probably benign	Het
Spaca1	CTCGC	CTCGCTATCGC	4: 34,049,853		probably benign	Het
Srrm2	A	G	17: 23,812,588	S236G	unknown	Het
Sry	GCTGCTGGTGGTGGTCATGGAACTGCTGCTTCTGCTGGTGGTGGTCATGGAACTGCTGCTTCTGCTGGTGGTGGTCATGGAACTGCTGCTTCTGCTG	GCTGCTGGTGGTGGTCATGGAACTGCTGCTTCTGCTGGTGGTGGTCATGGAACTGCTGCTTCTGCTG	Y: 2,662,638		probably benign	Het
Strn	TGCTCCCTTACCCCAGTC	TGCTCCCTTACCCCAGTCCGTGCTCCCTTACCCCAGTCCGAGCTCCCTTACCCCAGTC	17: 78,677,271		probably null	Het
Tfeb	CAG	CAGGAG	17: 47,786,113		probably benign	Het
Tktl2	A	T	8: 66,512,852	E354V	probably benign	Het
Tpte	A	G	8: 22,306,943	T94A	probably benign	Het
Usp40	A	C	1: 87,967,195	S868A	possibly damaging	Het
Vmn2r24	G	A	6: 123,806,419	C526Y	probably damaging	Het
Vmn2r58	CAAAATGATGTAGCACTT	C	7: 41,836,959		probably null	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
R1529:Cenpf	UTSW	1	189660038	missense	probably benign	0.00
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
R7901:Cenpf	UTSW	1	189657248	missense	probably damaging	1.00
R7984:Cenpf	UTSW	1	189657248	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'- AATTTGTCAGAGACGGGCTG -3'
(R):5'- TCTGTCCCAGAATGAGCTGATG -3'

Sequencing Primer
(F):5'- CAGAACGACAGTGGCAGACC -3'
(R):5'- TGAGCTGATGAAGGACACCTC -3'

Posted On

2019-12-04