Mutagenetix > Incidental Mutation

Incidental Mutation 'R4709:Incenp'

401832

Institutional Source

Beutler Lab

Gene Symbol

Incenp

Ensembl Gene

ENSMUSG00000024660

Gene Name

inner centromere protein

Synonyms

2700067E22Rik

MMRRC Submission

042018-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R4709 (G1)

Quality Score

Status

Validated

Chromosome

Chromosomal Location

9849659-9876853 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 9853964 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Tryptophan at position 696 (R696W)

Ref Sequence

ENSEMBL: ENSMUSP00000025562 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000025562]

AlphaFold

Q9WU62

Predicted Effect

unknown
Transcript: ENSMUST00000025562
AA Change: R696W

SMART Domains

Protein: ENSMUSP00000025562
Gene: ENSMUSG00000024660
AA Change: R696W

Domain	Start	End	E-Value	Type
Pfam:INCENP_N	6	41	1.9e-18	PFAM
low complexity region	83	94	N/A	INTRINSIC
low complexity region	123	145	N/A	INTRINSIC
low complexity region	308	314	N/A	INTRINSIC
low complexity region	350	367	N/A	INTRINSIC
low complexity region	434	447	N/A	INTRINSIC
low complexity region	517	553	N/A	INTRINSIC
low complexity region	557	573	N/A	INTRINSIC
SCOP:d1f5na1	631	739	7e-3	SMART
Pfam:INCENP_ARK-bind	789	846	1.5e-22	PFAM

Meta Mutation Damage Score

0.0869

Coding Region Coverage

1x: 99.1%
3x: 98.4%
10x: 96.7%
20x: 93.9%

Validation Efficiency

97% (77/79)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] In mammalian cells, 2 broad groups of centromere-interacting proteins have been described: constitutively binding centromere proteins and 'passenger,' or transiently interacting, proteins (reviewed by Choo, 1997). The constitutive proteins include CENPA (centromere protein A; MIM 117139), CENPB (MIM 117140), CENPC1 (MIM 117141), and CENPD (MIM 117142). The term 'passenger proteins' encompasses a broad collection of proteins that localize to the centromere during specific stages of the cell cycle (Earnshaw and Mackay, 1994 [PubMed 8088460]). These include CENPE (MIM 117143); MCAK (MIM 604538); KID (MIM 603213); cytoplasmic dynein (e.g., MIM 600112); CliPs (e.g., MIM 179838); and CENPF/mitosin (MIM 600236). The inner centromere proteins (INCENPs) (Earnshaw and Cooke, 1991 [PubMed 1860899]), the initial members of the passenger protein group, display a broad localization along chromosomes in the early stages of mitosis but gradually become concentrated at centromeres as the cell cycle progresses into mid-metaphase. During telophase, the proteins are located within the midbody in the intercellular bridge, where they are discarded after cytokinesis (Cutts et al., 1999 [PubMed 10369859]).[supplied by OMIM, Mar 2008]
PHENOTYPE: Homozygous mutant embryos die before E8.5. Embryonic cells exhibit abnormal nuclei and abberent mitosis. [provided by MGI curators]

Allele List at MGI

All alleles(12) : Targeted, knock-out(1) Targeted, other(2) Gene trapped(9)

Other mutations in this stock

Total: 70 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcf1	G	A	17: 36,271,069 (GRCm39)	T463M	probably damaging	Het
Arhgap35	C	T	7: 16,297,511 (GRCm39)	G518D	probably damaging	Het
Arhgdia	A	G	11: 120,470,517 (GRCm39)	Y110H	probably damaging	Het
Atp8b3	T	C	10: 80,372,604 (GRCm39)		probably null	Het
Bpifb6	T	A	2: 153,750,436 (GRCm39)	I309N	possibly damaging	Het
Cbr4	T	C	8: 61,943,061 (GRCm39)	V77A	possibly damaging	Het
Cers2	A	G	3: 95,227,534 (GRCm39)	Y54C	possibly damaging	Het
Cnbp	A	T	6: 87,821,120 (GRCm39)	H145Q	probably damaging	Het
Csmd1	A	T	8: 16,073,905 (GRCm39)	I2030N	possibly damaging	Het
Csmd1	A	G	8: 16,760,522 (GRCm39)		probably null	Het
Dhodh	T	C	8: 110,328,170 (GRCm39)		probably null	Het
Dnah11	T	A	12: 117,982,495 (GRCm39)	Y2558F	probably benign	Het
Dysf	C	A	6: 84,074,697 (GRCm39)	D499E	probably damaging	Het
En1	A	T	1: 120,534,872 (GRCm39)	Y387F	unknown	Het
Ephb2	C	A	4: 136,423,363 (GRCm39)	C305F	probably damaging	Het
Fryl	A	G	5: 73,238,315 (GRCm39)	V1477A	probably benign	Het
Gimap3	A	T	6: 48,742,327 (GRCm39)	L201Q	probably benign	Het
Gm10801	T	G	2: 98,494,246 (GRCm39)		probably null	Het
Grhl1	A	G	12: 24,636,132 (GRCm39)	I283V	possibly damaging	Het
Grid2ip	T	A	5: 143,374,658 (GRCm39)	L926H	probably damaging	Het
Gtf2h2	G	T	13: 100,605,523 (GRCm39)	C82*	probably null	Het
Gtf2ird1	T	C	5: 134,433,588 (GRCm39)	T280A	probably benign	Het
Gzmd	T	C	14: 56,367,698 (GRCm39)	I192V	probably null	Het
Hectd1	A	G	12: 51,834,695 (GRCm39)	V855A	possibly damaging	Het
Hey1	A	G	3: 8,730,963 (GRCm39)		probably benign	Het
Hpx	A	G	7: 105,249,243 (GRCm39)	S19P	probably benign	Het
Itgam	T	C	7: 127,700,709 (GRCm39)	V493A	probably damaging	Het
Ldlrad3	A	G	2: 101,900,343 (GRCm39)	I53T	probably damaging	Het
Map3k7	G	T	4: 31,985,700 (GRCm39)	E208*	probably null	Het
Myh9	A	T	15: 77,671,717 (GRCm39)	I458N	probably damaging	Het
Myo1c	C	T	11: 75,560,856 (GRCm39)	R770*	probably null	Het
Nectin3	T	A	16: 46,284,306 (GRCm39)	Y126F	possibly damaging	Het
Nek5	A	T	8: 22,573,443 (GRCm39)	N504K	probably damaging	Het
Nlrp4c	T	A	7: 6,068,424 (GRCm39)	H108Q	probably benign	Het
Or10d5	A	T	9: 39,861,165 (GRCm39)	L301M	probably damaging	Het
Or2ak4	T	C	11: 58,649,013 (GRCm39)	V174A	possibly damaging	Het
Or2at1	A	T	7: 99,416,989 (GRCm39)	I207F	probably damaging	Het
Or5h17	A	T	16: 58,820,458 (GRCm39)	T137S	probably benign	Het
Or9a2	G	T	6: 41,748,442 (GRCm39)	Q264K	probably benign	Het
Or9i14	T	A	19: 13,792,814 (GRCm39)	I47F	possibly damaging	Het
Parp6	T	C	9: 59,549,052 (GRCm39)	I507T	probably damaging	Het
Pcdhb12	A	G	18: 37,570,548 (GRCm39)	T565A	probably benign	Het
Pclo	A	G	5: 14,828,572 (GRCm39)	N4676D	unknown	Het
Pdlim1	T	A	19: 40,211,180 (GRCm39)	H278L	probably benign	Het
Pfkfb3	G	A	2: 11,498,719 (GRCm39)	T46M	probably damaging	Het
Plscr2	A	G	9: 92,173,067 (GRCm39)	Y203C	probably damaging	Het
Plxna1	T	C	6: 89,311,733 (GRCm39)	D924G	possibly damaging	Het
Postn	T	A	3: 54,292,031 (GRCm39)		probably benign	Het
Ptpn23	A	G	9: 110,217,924 (GRCm39)	S674P	possibly damaging	Het
Ranbp6	C	T	19: 29,788,984 (GRCm39)	R456Q	probably benign	Het
Rbm43	A	T	2: 51,819,728 (GRCm39)	V46E	probably damaging	Het
Rlig1	T	C	10: 100,414,243 (GRCm39)	I139V	probably benign	Het
Rtn4r	A	G	16: 17,969,046 (GRCm39)	Y158C	probably damaging	Het
Ryr2	A	G	13: 11,731,884 (GRCm39)	I2352T	probably damaging	Het
Sbk2	G	T	7: 4,960,577 (GRCm39)	R198S	possibly damaging	Het
Scube3	G	A	17: 28,386,166 (GRCm39)		probably null	Het
Slc45a1	G	A	4: 150,722,697 (GRCm39)	P396S	probably benign	Het
Slc4a10	A	G	2: 62,087,861 (GRCm39)	D418G	probably null	Het
Smarcad1	A	G	6: 65,052,099 (GRCm39)	T411A	probably benign	Het
Smtn	G	A	11: 3,474,663 (GRCm39)	S716F	probably damaging	Het
Stag1	G	T	9: 100,620,092 (GRCm39)	R65L	probably damaging	Het
Stat1	A	T	1: 52,165,680 (GRCm39)	D92V	probably damaging	Het
Ttn	A	G	2: 76,582,428 (GRCm39)	Y22822H	probably damaging	Het
Vmn1r172	A	G	7: 23,359,606 (GRCm39)	T164A	probably benign	Het
Vmn2r118	A	T	17: 55,917,860 (GRCm39)	D217E	probably damaging	Het
Vmn2r26	A	G	6: 124,030,924 (GRCm39)	E553G	probably damaging	Het
Vmn2r96	T	C	17: 18,803,088 (GRCm39)	F333L	probably benign	Het
Ypel5	G	A	17: 73,155,726 (GRCm39)	R98H	probably benign	Het
Zfp719	C	T	7: 43,239,656 (GRCm39)	H415Y	probably damaging	Het
Zyg11a	T	C	4: 108,062,268 (GRCm39)	S176G	probably benign	Het

Other mutations in Incenp

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01324:Incenp	APN	19	9,861,092 (GRCm39)	missense	unknown
IGL01717:Incenp	APN	19	9,870,629 (GRCm39)	splice site	probably benign
IGL02485:Incenp	APN	19	9,870,732 (GRCm39)	missense	unknown
IGL02488:Incenp	APN	19	9,870,771 (GRCm39)	missense	unknown
B5639:Incenp	UTSW	19	9,871,182 (GRCm39)	missense	unknown
R0060:Incenp	UTSW	19	9,862,823 (GRCm39)	splice site	probably benign
R0164:Incenp	UTSW	19	9,872,243 (GRCm39)	missense	probably benign	0.23
R0164:Incenp	UTSW	19	9,872,243 (GRCm39)	missense	probably benign	0.23
R0242:Incenp	UTSW	19	9,871,114 (GRCm39)	missense	unknown
R0242:Incenp	UTSW	19	9,871,114 (GRCm39)	missense	unknown
R0284:Incenp	UTSW	19	9,871,357 (GRCm39)	missense	unknown
R1264:Incenp	UTSW	19	9,861,379 (GRCm39)	missense	unknown
R1432:Incenp	UTSW	19	9,862,890 (GRCm39)	missense	unknown
R1679:Incenp	UTSW	19	9,872,778 (GRCm39)	missense	unknown
R1827:Incenp	UTSW	19	9,850,093 (GRCm39)	missense	possibly damaging	0.94
R1970:Incenp	UTSW	19	9,862,851 (GRCm39)	missense	unknown
R3082:Incenp	UTSW	19	9,861,143 (GRCm39)	missense	unknown
R3083:Incenp	UTSW	19	9,861,143 (GRCm39)	missense	unknown
R4062:Incenp	UTSW	19	9,861,142 (GRCm39)	missense	unknown
R4063:Incenp	UTSW	19	9,861,142 (GRCm39)	missense	unknown
R4534:Incenp	UTSW	19	9,861,303 (GRCm39)	missense	unknown
R4535:Incenp	UTSW	19	9,861,303 (GRCm39)	missense	unknown
R4536:Incenp	UTSW	19	9,861,303 (GRCm39)	missense	unknown
R4785:Incenp	UTSW	19	9,855,054 (GRCm39)	missense	unknown
R4785:Incenp	UTSW	19	9,855,055 (GRCm39)	missense	unknown
R5179:Incenp	UTSW	19	9,872,273 (GRCm39)	missense	unknown
R5282:Incenp	UTSW	19	9,855,770 (GRCm39)	missense	unknown
R5400:Incenp	UTSW	19	9,855,039 (GRCm39)	critical splice donor site	probably null
R5502:Incenp	UTSW	19	9,870,728 (GRCm39)	missense	unknown
R5608:Incenp	UTSW	19	9,871,232 (GRCm39)	small insertion	probably benign
R6033:Incenp	UTSW	19	9,850,061 (GRCm39)	missense	probably damaging	0.99
R6033:Incenp	UTSW	19	9,850,061 (GRCm39)	missense	probably damaging	0.99
R6807:Incenp	UTSW	19	9,855,120 (GRCm39)	missense	unknown
R6885:Incenp	UTSW	19	9,852,496 (GRCm39)	missense	unknown
R6959:Incenp	UTSW	19	9,854,134 (GRCm39)	missense	unknown
R7033:Incenp	UTSW	19	9,870,736 (GRCm39)	missense	unknown
R8258:Incenp	UTSW	19	9,871,005 (GRCm39)	missense	unknown
R8258:Incenp	UTSW	19	9,870,993 (GRCm39)	missense	unknown
R8259:Incenp	UTSW	19	9,871,005 (GRCm39)	missense	unknown
R8259:Incenp	UTSW	19	9,870,993 (GRCm39)	missense	unknown
R8293:Incenp	UTSW	19	9,852,497 (GRCm39)	nonsense	probably null
R9005:Incenp	UTSW	19	9,855,088 (GRCm39)	nonsense	probably null
R9491:Incenp	UTSW	19	9,854,141 (GRCm39)	missense	unknown
R9665:Incenp	UTSW	19	9,871,329 (GRCm39)	missense	unknown
Z1176:Incenp	UTSW	19	9,855,051 (GRCm39)	missense	unknown
Z1177:Incenp	UTSW	19	9,876,728 (GRCm39)	start gained	probably benign

Predicted Primers

PCR Primer
(F):5'- GAAAACGTGCAGTGACCCTG -3'
(R):5'- GCATCAAGAAATGCTACAACGG -3'

Sequencing Primer
(F):5'- AGTGACCCTGAGCTGGAAC -3'
(R):5'- TCAAGAAATGCTACAACGGAAGAAG -3'

Posted On

2016-07-08