Mutagenetix > Incidental Mutation

Incidental Mutation 'R4119:Cenpf'

315207

Institutional Source

Beutler Lab

Gene Symbol

Cenpf

Ensembl Gene

ENSMUSG00000026605

Gene Name

centromere protein F

Synonyms

6530404A22Rik, mitosin, Lek1

MMRRC Submission

040992-MU

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.536) question?

Stock #

R4119 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

189372803-189420283 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 189385242 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Threonine at position 2346 (I2346T)

Ref Sequence

ENSEMBL: ENSMUSP00000129738 (fasta)

Gene Model

predicted gene model for transcript(s): [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: ENSMUST00000171929
AA Change: I2346T

PolyPhen 2 Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)

SMART Domains

Protein: ENSMUSP00000129738
Gene: ENSMUSG00000026605
AA Change: I2346T

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

0.0898

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.4%
20x: 95.7%

Validation Efficiency

98% (46/47)

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: 44 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700013D24Rik	A	G	6: 124,333,863 (GRCm39)	L39P	probably damaging	Het
Abcc1	A	G	16: 14,211,877 (GRCm39)	M138V	probably benign	Het
Abl1	T	A	2: 31,691,739 (GRCm39)	I1067N	probably damaging	Het
Adam6a	C	T	12: 113,508,194 (GRCm39)	T189I	probably benign	Het
Ankfy1	G	A	11: 72,605,310 (GRCm39)		probably null	Het
Aplnr	T	C	2: 84,967,310 (GRCm39)	Y112H	possibly damaging	Het
Arhgap17	A	G	7: 122,906,217 (GRCm39)	F313S	probably damaging	Het
Arid1b	T	C	17: 5,046,069 (GRCm39)		probably benign	Het
Bcas1	G	C	2: 170,220,735 (GRCm39)	P394A	probably benign	Het
Ccdc116	A	G	16: 16,960,051 (GRCm39)	S213P	probably damaging	Het
Cdh15	T	C	8: 123,590,162 (GRCm39)	V365A	probably damaging	Het
Chd7	A	G	4: 8,785,658 (GRCm39)		probably benign	Het
Ezh2	A	C	6: 47,521,482 (GRCm39)	N390K	probably benign	Het
Fbxo7	C	A	10: 85,857,759 (GRCm39)		probably benign	Het
Fibin	A	G	2: 110,193,035 (GRCm39)	Y36H	probably damaging	Het
Gpr37	C	T	6: 25,688,425 (GRCm39)	R224H	possibly damaging	Het
Hars2	A	T	18: 36,923,541 (GRCm39)	N363I	probably damaging	Het
Ip6k2	G	A	9: 108,682,847 (GRCm39)	R319Q	probably benign	Het
Itpr1	G	A	6: 108,371,316 (GRCm39)	D1140N	probably benign	Het
Lrig2	A	G	3: 104,374,511 (GRCm39)	V190A	probably benign	Het
Ltk	T	A	2: 119,588,429 (GRCm39)		probably benign	Het
Morc2a	C	A	11: 3,633,868 (GRCm39)	T660N	probably benign	Het
Msh3	A	G	13: 92,490,519 (GRCm39)		probably benign	Het
Myo15b	T	C	11: 115,764,318 (GRCm39)	S1311P	probably benign	Het
Nbeal1	A	T	1: 60,331,029 (GRCm39)	I2213L	probably damaging	Het
Or10ag57	T	A	2: 87,218,187 (GRCm39)	M46K	possibly damaging	Het
Or5d16	A	G	2: 87,773,787 (GRCm39)	Y62H	probably damaging	Het
P2ry12	T	C	3: 59,125,262 (GRCm39)	T138A	probably benign	Het
Pirb	T	C	7: 3,720,574 (GRCm39)	D308G	probably damaging	Het
Pkn3	A	G	2: 29,973,049 (GRCm39)		probably benign	Het
Ripor1	T	A	8: 106,345,489 (GRCm39)		probably benign	Het
Ryr2	T	C	13: 11,794,153 (GRCm39)	T942A	probably benign	Het
Spata31e5	A	T	1: 28,817,054 (GRCm39)	V326D	probably damaging	Het
Sptbn5	T	A	2: 119,895,010 (GRCm39)	D798V	possibly damaging	Het
Synpo2	T	A	3: 122,910,799 (GRCm39)	D282V	probably damaging	Het
Tnik	T	C	3: 28,720,324 (GRCm39)	F1287L	probably damaging	Het
Tshz1	T	G	18: 84,032,314 (GRCm39)	K698T	probably benign	Het
Ttc23l	A	C	15: 10,540,006 (GRCm39)	V159G	probably damaging	Het
Urb2	T	A	8: 124,773,979 (GRCm39)	D1503E	probably benign	Het
Usp29	T	A	7: 6,965,805 (GRCm39)	N549K	probably benign	Het
Vmn2r39	G	A	7: 9,026,673 (GRCm39)	H443Y	probably benign	Het
Zfp24	A	G	18: 24,147,626 (GRCm39)	Y229H	possibly damaging	Het
Zfp472	T	A	17: 33,197,189 (GRCm39)	Y421*	probably null	Het
Zkscan3	T	C	13: 21,578,119 (GRCm39)	E256G	possibly 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
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
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'- AGTCAGATACTCGCTCTTGCTC -3'
(R):5'- CCTTGTGTAATGACCAAGAAACCTTG -3'

Sequencing Primer
(F):5'- ACTGCAAGTCTTGGAGGT -3'
(R):5'- CTTGAAGGCCCAAGAACAGAGTC -3'

Posted On

2015-05-14