Mutagenetix > Incidental Mutation

Incidental Mutation 'R9303:Cenpf'

705042

Institutional Source

Beutler Lab

Gene Symbol

Cenpf

Ensembl Gene

ENSMUSG00000026605

Gene Name

centromere protein F

Synonyms

6530404A22Rik, mitosin, Lek1

MMRRC Submission

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.527) question?

Stock #

R9303 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

189372803-189420283 bp(-) (GRCm39)

Type of Mutation

critical splice acceptor site

DNA Base Change (assembly)

T to C at 189392271 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000132759 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

probably null
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 benign
Transcript: ENSMUST00000171929

SMART Domains

Protein: ENSMUSP00000129738
Gene: ENSMUSG00000026605

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: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.8%

Validation Efficiency

100% (57/57)

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: 56 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca16	A	G	7: 120,126,989 (GRCm39)	I1227V	probably benign	Het
Acte1	G	T	7: 143,434,902 (GRCm39)		probably null	Het
Adamts17	T	C	7: 66,489,645 (GRCm39)	L21P	probably damaging	Het
Adcy1	T	C	11: 7,094,766 (GRCm39)	V564A	probably damaging	Het
Adgre1	A	G	17: 57,748,275 (GRCm39)	N492D	probably benign	Het
Aldh1b1	G	A	4: 45,803,811 (GRCm39)	V450M	probably damaging	Het
Arv1	T	A	8: 125,457,685 (GRCm39)	H196Q	probably damaging	Het
Atp9a	A	T	2: 168,517,163 (GRCm39)	I390N	probably benign	Het
Bltp1	A	G	3: 37,098,969 (GRCm39)	I1277V		Het
Capn10	T	C	1: 92,871,665 (GRCm39)		probably null	Het
Casq2	A	G	3: 102,052,700 (GRCm39)	D404G	unknown	Het
Cep295nl	G	A	11: 118,224,766 (GRCm39)	P26L	possibly damaging	Het
Chmp4c	T	G	3: 10,454,974 (GRCm39)	S214A	probably benign	Het
Chrna5	T	C	9: 54,912,156 (GRCm39)	F319L	probably benign	Het
Csmd1	G	T	8: 16,011,532 (GRCm39)	T2507K	probably benign	Het
Ctnnd2	T	C	15: 30,967,037 (GRCm39)	M996T	probably damaging	Het
Dbf4	T	C	5: 8,448,102 (GRCm39)	T328A	unknown	Het
Ddc	C	T	11: 11,779,132 (GRCm39)	V331I	probably benign	Het
Fads2b	A	T	2: 85,330,649 (GRCm39)	C219*	probably null	Het
Fat1	T	A	8: 45,463,498 (GRCm39)	W1347R	probably damaging	Het
Fbxw21	A	G	9: 108,986,727 (GRCm39)	F51L	probably benign	Het
Gng2	G	T	14: 19,925,961 (GRCm39)	H44N	probably damaging	Het
Hps5	G	A	7: 46,438,619 (GRCm39)	T38I	possibly damaging	Het
Igf2	G	A	7: 142,208,153 (GRCm39)	R64C	probably damaging	Het
Inpp4b	C	T	8: 82,759,758 (GRCm39)	A601V	probably damaging	Het
Kdm2a	A	G	19: 4,395,606 (GRCm39)	Y342H	probably benign	Het
Kidins220	C	A	12: 25,107,110 (GRCm39)	T1430K	probably benign	Het
Knl1	T	C	2: 118,898,829 (GRCm39)	C177R	possibly damaging	Het
Krt32	T	C	11: 99,972,029 (GRCm39)	T440A	probably benign	Het
Kynu	T	A	2: 43,569,768 (GRCm39)	F350Y	probably damaging	Het
Lama4	T	C	10: 38,973,137 (GRCm39)	L1568P	probably damaging	Het
Lrp1b	A	T	2: 41,618,574 (GRCm39)	S281T		Het
Or2y3	A	T	17: 38,393,629 (GRCm39)	V80D	probably damaging	Het
Or5h23	A	G	16: 58,906,802 (GRCm39)	S15P	probably benign	Het
Or8c19-ps1	C	T	9: 38,220,463 (GRCm39)	T124M	probably benign	Het
Orc3	G	A	4: 34,607,181 (GRCm39)	R50*	probably null	Het
Osbpl6	T	A	2: 76,378,716 (GRCm39)	D124E	probably damaging	Het
Parp4	TG	T	14: 56,832,790 (GRCm39)		probably null	Het
Parp4	T	C	14: 56,852,224 (GRCm39)		probably null	Het
Pcdhb18	A	C	18: 37,625,004 (GRCm39)	H778P	probably benign	Het
Polg	A	T	7: 79,105,860 (GRCm39)	Y710N	probably benign	Het
Ppp2r2b	C	A	18: 42,779,025 (GRCm39)	R370L	possibly damaging	Het
Raet1e	C	T	10: 22,057,872 (GRCm39)	T213I	possibly damaging	Het
Reln	T	A	5: 22,193,705 (GRCm39)	S1418C	possibly damaging	Het
Reln	T	C	5: 22,285,689 (GRCm39)	S427G	probably benign	Het
Rhobtb2	G	A	14: 70,025,376 (GRCm39)	H633Y	probably damaging	Het
Serpina3i	T	C	12: 104,234,881 (GRCm39)	V404A	probably damaging	Het
Serpinb8	T	C	1: 107,526,769 (GRCm39)		probably null	Het
Sorl1	G	T	9: 41,900,739 (GRCm39)	Q1658K	probably damaging	Het
Tmem26	G	A	10: 68,559,816 (GRCm39)	W29*	probably null	Het
Togaram2	A	G	17: 71,996,408 (GRCm39)	E137G	probably damaging	Het
Ttc39b	A	G	4: 83,151,023 (GRCm39)	L524S	probably damaging	Het
Usp43	T	C	11: 67,767,345 (GRCm39)	N675S	probably damaging	Het
Vmn2r104	A	G	17: 20,268,439 (GRCm39)	L10P	possibly damaging	Het
Zbtb1	G	A	12: 76,432,773 (GRCm39)	R253Q	probably damaging	Het
Zfp354b	T	A	11: 50,820,256 (GRCm39)	R36S	probably damaging	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
R6951:Cenpf	UTSW	1	189,385,989 (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
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'- TCAGTTGATCAATGTGATGTTCCC -3'
(R):5'- GTGTATTACTTTCAAGGACTTCAGC -3'

Sequencing Primer
(F):5'- ATGTGATGTTCCCTTTTCTTCAAGAG -3'
(R):5'- GTCAAGTTTTACAGGATGTGACAGCC -3'

Posted On

2022-03-25