Mutagenetix > Incidental Mutation

Incidental Mutation 'R6951:Cenpf'

541253

Institutional Source

Beutler Lab

Gene Symbol

Cenpf

Ensembl Gene

ENSMUSG00000026605

Gene Name

centromere protein F

Synonyms

6530404A22Rik, mitosin, Lek1

MMRRC Submission

045063-MU

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.527) question?

Stock #

R6951 (G1)

Quality Score

155.008

Status

Validated

Chromosome

Chromosomal Location

189372803-189420283 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 189385989 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Proline at position 2097 (L2097P)

Ref Sequence

ENSEMBL: ENSMUSP00000129738 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000165798

SMART Domains

Protein: ENSMUSP00000132430
Gene: ENSMUSG00000026605

Domain	Start	End	E-Value	Type
Pfam:CENP-F_C_Rb_bdg	23	50	1.6e-17	PFAM

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: L2097P

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000129738
Gene: ENSMUSG00000026605
AA Change: L2097P

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

Meta Mutation Damage Score

0.2175

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.2%
20x: 97.0%

Validation Efficiency

100% (42/42)

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: 41 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ankrd34a	A	G	3: 96,505,738 (GRCm39)	N314S	possibly damaging	Het
Arhgef3	A	T	14: 26,865,975 (GRCm39)		probably benign	Het
Bmp1	T	C	14: 70,746,298 (GRCm39)	R114G	probably benign	Het
Cgas	A	G	9: 78,349,840 (GRCm39)	V174A	probably damaging	Het
Dapk2	C	G	9: 66,161,904 (GRCm39)	R271G	probably benign	Het
Dnase2a	A	T	8: 85,636,254 (GRCm39)	N130I	possibly damaging	Het
Dpp10	C	T	1: 123,269,379 (GRCm39)	V677M	possibly damaging	Het
Dsp	G	A	13: 38,351,622 (GRCm39)	C147Y	possibly damaging	Het
Ecpas	A	G	4: 58,853,114 (GRCm39)		probably null	Het
Esyt2	A	G	12: 116,287,750 (GRCm39)	T223A	probably benign	Het
Fndc5	G	A	4: 129,032,573 (GRCm39)	V59I	possibly damaging	Het
Fsip2	A	G	2: 82,812,293 (GRCm39)	T2871A	possibly damaging	Het
H2-Eb1	A	T	17: 34,528,831 (GRCm39)	R121*	probably null	Het
Hydin	A	G	8: 111,124,757 (GRCm39)	I589V	probably benign	Het
Kitl	A	G	10: 99,887,714 (GRCm39)	I48V	probably damaging	Het
Large1	A	G	8: 73,843,047 (GRCm39)	S159P	probably damaging	Het
Lrba	T	C	3: 86,653,180 (GRCm39)	L2570P	probably benign	Het
Mag	G	A	7: 30,610,858 (GRCm39)	T128I	possibly damaging	Het
Mkrn3	G	T	7: 62,068,881 (GRCm39)	D303E	possibly damaging	Het
Myo9a	A	G	9: 59,802,051 (GRCm39)	D1951G	probably damaging	Het
Nup85	C	T	11: 115,473,781 (GRCm39)	T565I	possibly damaging	Het
Or5l13	T	C	2: 87,780,323 (GRCm39)	I85V	possibly damaging	Het
Or8b1d	A	G	9: 38,558,170 (GRCm39)	S217P	probably damaging	Het
Or8b43	A	G	9: 38,360,234 (GRCm39)	D22G	probably benign	Het
Or8k31-ps1	T	C	2: 86,355,993 (GRCm39)	H176R	probably damaging	Het
Pdzrn3	A	T	6: 101,131,153 (GRCm39)		probably null	Het
Picalm	T	A	7: 89,840,583 (GRCm39)	N434K	probably damaging	Het
Platr25	A	C	13: 62,853,562 (GRCm39)	D77E	probably benign	Het
Prr22	A	T	17: 57,079,028 (GRCm39)	R394*	probably null	Het
Psg23	A	T	7: 18,348,636 (GRCm39)	L57Q	probably damaging	Het
Rap1gap2	G	A	11: 74,375,774 (GRCm39)	S44L	possibly damaging	Het
Rffl	A	G	11: 82,736,576 (GRCm39)		probably null	Het
Stox2	G	A	8: 47,656,167 (GRCm39)	T103I	probably damaging	Het
Swt1	T	C	1: 151,273,019 (GRCm39)	N543S	possibly damaging	Het
Tep1	C	T	14: 51,071,370 (GRCm39)		probably null	Het
Tln2	A	G	9: 67,165,767 (GRCm39)	Y1023H	probably damaging	Het
Tssk5	C	A	15: 76,257,096 (GRCm39)	R262L	possibly damaging	Het
Ttn	C	T	2: 76,710,986 (GRCm39)		probably benign	Het
Ubtfl1	A	T	9: 18,320,873 (GRCm39)	I134F	probably benign	Het
Unc80	T	C	1: 66,687,670 (GRCm39)	F2351S	possibly damaging	Het
Vps13a	A	T	19: 16,701,104 (GRCm39)	D688E	probably benign	Het

Other mutations in Cenpf

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00778:Cenpf	APN	1	189,387,109 (GRCm39)	missense	probably benign	0.01
IGL01154:Cenpf	APN	1	189,412,530 (GRCm39)	missense	probably benign	0.19
IGL01434:Cenpf	APN	1	189,390,065 (GRCm39)	nonsense	probably null
IGL01461:Cenpf	APN	1	189,389,293 (GRCm39)	missense	probably damaging	1.00
IGL01615:Cenpf	APN	1	189,385,381 (GRCm39)	missense	possibly damaging	0.68
IGL01720:Cenpf	APN	1	189,383,412 (GRCm39)	missense	probably damaging	0.99
IGL01720:Cenpf	APN	1	189,414,583 (GRCm39)	missense	probably benign	0.05
IGL01803:Cenpf	APN	1	189,386,968 (GRCm39)	nonsense	probably null
IGL02152:Cenpf	APN	1	189,381,209 (GRCm39)	missense	probably benign
IGL02222:Cenpf	APN	1	189,386,641 (GRCm39)	missense	probably benign
IGL02338:Cenpf	APN	1	189,412,615 (GRCm39)	missense	probably damaging	1.00
IGL02580:Cenpf	APN	1	189,389,638 (GRCm39)	missense	probably benign	0.20
IGL02629:Cenpf	APN	1	189,384,531 (GRCm39)	missense	probably damaging	1.00
IGL02650:Cenpf	APN	1	189,384,670 (GRCm39)	missense	possibly damaging	0.91
IGL02660:Cenpf	APN	1	189,386,979 (GRCm39)	missense	probably damaging	1.00
IGL02703:Cenpf	APN	1	189,391,955 (GRCm39)	missense	probably benign	0.14
IGL02809:Cenpf	APN	1	189,414,555 (GRCm39)	splice site	probably benign
IGL02851:Cenpf	APN	1	189,390,227 (GRCm39)	missense	probably damaging	1.00
IGL02903:Cenpf	APN	1	189,379,073 (GRCm39)	missense	probably damaging	0.99
IGL03126:Cenpf	APN	1	189,391,207 (GRCm39)	missense	probably damaging	1.00
IGL03235:Cenpf	APN	1	189,416,124 (GRCm39)	missense	probably damaging	1.00
IGL03336:Cenpf	APN	1	189,384,844 (GRCm39)	missense	probably damaging	0.99
IGL03402:Cenpf	APN	1	189,387,273 (GRCm39)	missense	probably damaging	1.00
IGL02799:Cenpf	UTSW	1	189,391,849 (GRCm39)	missense	probably damaging	1.00
R0011:Cenpf	UTSW	1	189,382,903 (GRCm39)	missense	probably benign	0.05
R0129:Cenpf	UTSW	1	189,391,847 (GRCm39)	missense	probably benign	0.26
R0157:Cenpf	UTSW	1	189,384,556 (GRCm39)	missense	probably benign	0.07
R0270:Cenpf	UTSW	1	189,382,911 (GRCm39)	missense	probably benign	0.01
R0607:Cenpf	UTSW	1	189,414,660 (GRCm39)	splice site	probably null
R0621:Cenpf	UTSW	1	189,404,825 (GRCm39)	missense	probably benign
R0639:Cenpf	UTSW	1	189,390,259 (GRCm39)	missense	probably benign	0.01
R0653:Cenpf	UTSW	1	189,392,183 (GRCm39)	missense	probably damaging	1.00
R0718:Cenpf	UTSW	1	189,386,181 (GRCm39)	missense	probably damaging	1.00
R1157:Cenpf	UTSW	1	189,390,650 (GRCm39)	missense	probably benign	0.20
R1331:Cenpf	UTSW	1	189,374,998 (GRCm39)	missense	probably damaging	0.99
R1463:Cenpf	UTSW	1	189,386,936 (GRCm39)	missense	probably damaging	0.97
R1514:Cenpf	UTSW	1	189,411,338 (GRCm39)	missense	possibly damaging	0.67
R1529:Cenpf	UTSW	1	189,392,235 (GRCm39)	missense	probably benign	0.00
R1574:Cenpf	UTSW	1	189,384,910 (GRCm39)	missense	probably damaging	1.00
R1574:Cenpf	UTSW	1	189,384,910 (GRCm39)	missense	probably damaging	1.00
R1662:Cenpf	UTSW	1	189,389,968 (GRCm39)	missense	probably damaging	0.99
R1671:Cenpf	UTSW	1	189,411,341 (GRCm39)	splice site	probably null
R1725:Cenpf	UTSW	1	189,412,676 (GRCm39)	missense	probably damaging	0.99
R1743:Cenpf	UTSW	1	189,386,460 (GRCm39)	missense	probably benign	0.19
R1874:Cenpf	UTSW	1	189,416,013 (GRCm39)	missense	probably damaging	1.00
R1884:Cenpf	UTSW	1	189,379,046 (GRCm39)	missense	probably benign
R1980:Cenpf	UTSW	1	189,386,112 (GRCm39)	missense	probably benign	0.04
R2074:Cenpf	UTSW	1	189,389,098 (GRCm39)	missense	probably damaging	1.00
R2096:Cenpf	UTSW	1	189,385,656 (GRCm39)	missense	possibly damaging	0.95
R2109:Cenpf	UTSW	1	189,411,264 (GRCm39)	missense	probably damaging	0.99
R2113:Cenpf	UTSW	1	189,411,299 (GRCm39)	missense	probably damaging	0.96
R2134:Cenpf	UTSW	1	189,390,839 (GRCm39)	missense	probably benign	0.03
R2209:Cenpf	UTSW	1	189,384,795 (GRCm39)	missense	probably benign	0.04
R2875:Cenpf	UTSW	1	189,390,841 (GRCm39)	missense	probably benign	0.11
R2876:Cenpf	UTSW	1	189,390,841 (GRCm39)	missense	probably benign	0.11
R3433:Cenpf	UTSW	1	189,392,146 (GRCm39)	missense	probably damaging	0.99
R3709:Cenpf	UTSW	1	189,381,009 (GRCm39)	missense	possibly damaging	0.72
R3786:Cenpf	UTSW	1	189,390,534 (GRCm39)	missense	probably damaging	1.00
R4014:Cenpf	UTSW	1	189,385,356 (GRCm39)	missense	probably benign	0.01
R4108:Cenpf	UTSW	1	189,416,065 (GRCm39)	missense	probably damaging	1.00
R4119:Cenpf	UTSW	1	189,385,242 (GRCm39)	missense	probably benign	0.01
R4177:Cenpf	UTSW	1	189,400,816 (GRCm39)	missense	possibly damaging	0.95
R4422:Cenpf	UTSW	1	189,390,547 (GRCm39)	missense	probably damaging	1.00
R4546:Cenpf	UTSW	1	189,386,847 (GRCm39)	missense	probably damaging	1.00
R4592:Cenpf	UTSW	1	189,411,230 (GRCm39)	missense	probably damaging	1.00
R4643:Cenpf	UTSW	1	189,391,786 (GRCm39)	missense	probably benign	0.00
R4650:Cenpf	UTSW	1	189,392,235 (GRCm39)	missense	probably benign	0.00
R4801:Cenpf	UTSW	1	189,383,417 (GRCm39)	missense	probably damaging	1.00
R4802:Cenpf	UTSW	1	189,383,417 (GRCm39)	missense	probably damaging	1.00
R4817:Cenpf	UTSW	1	189,414,566 (GRCm39)	missense	possibly damaging	0.93
R4871:Cenpf	UTSW	1	189,390,728 (GRCm39)	missense	probably damaging	1.00
R5037:Cenpf	UTSW	1	189,416,043 (GRCm39)	missense	probably damaging	1.00
R5106:Cenpf	UTSW	1	189,416,005 (GRCm39)	missense	probably benign	0.00
R5208:Cenpf	UTSW	1	189,403,243 (GRCm39)	critical splice donor site	probably null
R5213:Cenpf	UTSW	1	189,387,177 (GRCm39)	missense	probably benign	0.04
R5237:Cenpf	UTSW	1	189,391,730 (GRCm39)	missense	probably benign	0.28
R5255:Cenpf	UTSW	1	189,404,824 (GRCm39)	missense	possibly damaging	0.49
R5378:Cenpf	UTSW	1	189,385,663 (GRCm39)	missense	possibly damaging	0.95
R5468:Cenpf	UTSW	1	189,384,568 (GRCm39)	missense	probably damaging	1.00
R5510:Cenpf	UTSW	1	189,415,100 (GRCm39)	missense	probably benign	0.14
R5616:Cenpf	UTSW	1	189,389,483 (GRCm39)	missense	probably damaging	1.00
R5652:Cenpf	UTSW	1	189,389,279 (GRCm39)	missense	probably damaging	0.99
R5735:Cenpf	UTSW	1	189,386,560 (GRCm39)	missense	probably benign	0.10
R5841:Cenpf	UTSW	1	189,389,641 (GRCm39)	missense	possibly damaging	0.90
R5943:Cenpf	UTSW	1	189,392,166 (GRCm39)	missense	possibly damaging	0.75
R6082:Cenpf	UTSW	1	189,390,301 (GRCm39)	missense	probably benign	0.11
R6108:Cenpf	UTSW	1	189,394,210 (GRCm39)	missense	probably benign	0.03
R6269:Cenpf	UTSW	1	189,392,117 (GRCm39)	missense	probably benign	0.37
R6284:Cenpf	UTSW	1	189,384,939 (GRCm39)	missense	probably damaging	1.00
R6425:Cenpf	UTSW	1	189,392,095 (GRCm39)	missense	probably benign	0.09
R6587:Cenpf	UTSW	1	189,390,571 (GRCm39)	missense	probably damaging	1.00
R6747:Cenpf	UTSW	1	189,385,051 (GRCm39)	missense	probably benign	0.15
R6811:Cenpf	UTSW	1	189,386,739 (GRCm39)	missense	probably benign	0.06
R6834:Cenpf	UTSW	1	189,391,643 (GRCm39)	missense	probably damaging	1.00
R7095:Cenpf	UTSW	1	189,391,373 (GRCm39)	missense	probably benign	0.01
R7128:Cenpf	UTSW	1	189,417,188 (GRCm39)	missense	probably damaging	1.00
R7185:Cenpf	UTSW	1	189,385,686 (GRCm39)	missense	probably damaging	1.00
R7292:Cenpf	UTSW	1	189,382,891 (GRCm39)	missense	probably damaging	1.00
R7353:Cenpf	UTSW	1	189,386,335 (GRCm39)	nonsense	probably null
R7402:Cenpf	UTSW	1	189,391,575 (GRCm39)	nonsense	probably null
R7460:Cenpf	UTSW	1	189,386,247 (GRCm39)	missense	probably damaging	0.97
R7484:Cenpf	UTSW	1	189,389,018 (GRCm39)	missense	probably damaging	1.00
R7574:Cenpf	UTSW	1	189,390,864 (GRCm39)	missense	probably damaging	1.00
R7691:Cenpf	UTSW	1	189,390,404 (GRCm39)	nonsense	probably null
R7698:Cenpf	UTSW	1	189,394,269 (GRCm39)	missense	probably benign	0.01
R7901:Cenpf	UTSW	1	189,389,445 (GRCm39)	missense	probably damaging	1.00
R7941:Cenpf	UTSW	1	189,389,483 (GRCm39)	missense	probably damaging	1.00
R8007:Cenpf	UTSW	1	189,379,144 (GRCm39)	missense
R8194:Cenpf	UTSW	1	189,414,600 (GRCm39)	missense	probably benign	0.06
R8420:Cenpf	UTSW	1	189,404,782 (GRCm39)	missense	probably damaging	1.00
R8429:Cenpf	UTSW	1	189,389,504 (GRCm39)	missense	possibly damaging	0.72
R8477:Cenpf	UTSW	1	189,385,385 (GRCm39)	missense	probably benign
R8492:Cenpf	UTSW	1	189,390,926 (GRCm39)	missense	probably damaging	0.99
R8510:Cenpf	UTSW	1	189,382,903 (GRCm39)	missense	probably benign	0.01
R8686:Cenpf	UTSW	1	189,391,801 (GRCm39)	missense	probably benign	0.00
R8696:Cenpf	UTSW	1	189,390,194 (GRCm39)	missense	probably benign	0.20
R8855:Cenpf	UTSW	1	189,385,430 (GRCm39)	missense	probably benign	0.11
R8901:Cenpf	UTSW	1	189,394,248 (GRCm39)	missense	probably benign	0.30
R8958:Cenpf	UTSW	1	189,385,350 (GRCm39)	missense	possibly damaging	0.81
R9109:Cenpf	UTSW	1	189,391,571 (GRCm39)	missense	probably benign	0.06
R9135:Cenpf	UTSW	1	189,404,746 (GRCm39)	missense	probably damaging	1.00
R9136:Cenpf	UTSW	1	189,403,352 (GRCm39)	missense	probably benign	0.02
R9198:Cenpf	UTSW	1	189,388,987 (GRCm39)	missense	probably damaging	1.00
R9240:Cenpf	UTSW	1	189,389,167 (GRCm39)	missense	probably benign	0.01
R9303:Cenpf	UTSW	1	189,392,271 (GRCm39)	critical splice acceptor site	probably null
R9305:Cenpf	UTSW	1	189,392,271 (GRCm39)	critical splice acceptor site	probably null
R9354:Cenpf	UTSW	1	189,379,114 (GRCm39)	missense
R9502:Cenpf	UTSW	1	189,388,978 (GRCm39)	missense	probably damaging	1.00
R9619:Cenpf	UTSW	1	189,385,965 (GRCm39)	missense	probably benign	0.01
RF006:Cenpf	UTSW	1	189,389,583 (GRCm39)	missense	probably damaging	1.00
X0025:Cenpf	UTSW	1	189,386,071 (GRCm39)	missense	possibly damaging	0.79
X0066:Cenpf	UTSW	1	189,390,126 (GRCm39)	missense	probably benign	0.23
Z1088:Cenpf	UTSW	1	189,385,128 (GRCm39)	missense	probably damaging	1.00
Z1176:Cenpf	UTSW	1	189,391,669 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- TTCAATGAGTCGCTTTCACGC -3'
(R):5'- TCCTTTAATGTGGGTGAGCTAAC -3'

Sequencing Primer
(F):5'- CACGCTGGCTTTCTTTCAG -3'
(R):5'- TCATCTCCAGGAGCAGCTG -3'

Posted On

2018-11-28