Mutagenetix > Incidental Mutation

Incidental Mutation 'R0060:Incenp'

18097

Institutional Source

Beutler Lab

Gene Symbol

Incenp

Ensembl Gene

ENSMUSG00000024660

Gene Name

inner centromere protein

Synonyms

2700067E22Rik

MMRRC Submission

038353-MU

Accession Numbers

Genbank: NM_016692

Is this an essential gene?

Essential (E-score: 1.000) question?

Stock #

R0060 (G1)

Quality Score

Status

Validated

Chromosome

Chromosomal Location

9872297-9899533 bp(-) (GRCm38)

Type of Mutation

splice site

DNA Base Change (assembly)

A to G at 9885459 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000025562 (fasta)

Gene Model

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

AlphaFold

Q9WU62

Predicted Effect

probably benign
Transcript: ENSMUST00000025562

SMART Domains

Protein: ENSMUSP00000025562
Gene: ENSMUSG00000024660

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

Coding Region Coverage

1x: 90.4%
3x: 88.3%
10x: 83.8%
20x: 78.1%

Validation Efficiency

94% (74/79)

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: 52 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1810011H11Rik	C	A	14: 32,806,769		probably benign	Het
1810065E05Rik	A	C	11: 58,422,182		probably benign	Het
4930432E11Rik	A	G	7: 29,574,170		noncoding transcript	Het
A630091E08Rik	A	G	7: 98,543,668		noncoding transcript	Het
Abca8a	T	C	11: 110,070,480	T539A	probably damaging	Het
Adam34	A	T	8: 43,675,883		probably benign	Het
Ankrd60	A	T	2: 173,572,613	M1K	probably null	Het
Cald1	T	C	6: 34,715,459		probably benign	Het
Capn7	T	C	14: 31,365,604		probably benign	Het
Cd109	G	A	9: 78,703,107	E1145K	probably damaging	Het
Celsr1	A	T	15: 85,922,198	V2353D	probably damaging	Het
Cep135	A	T	5: 76,621,350	I616F	probably benign	Het
Cep162	T	A	9: 87,237,825		probably benign	Het
Cep350	C	T	1: 155,928,626	D904N	probably damaging	Het
Cep85	T	C	4: 134,167,300	D65G	probably damaging	Het
Cfdp1	T	C	8: 111,840,354		probably benign	Het
Chl1	T	A	6: 103,711,058		probably benign	Het
Colec10	G	A	15: 54,439,146		probably benign	Het
Crxos	A	G	7: 15,898,523	T40A	possibly damaging	Het
Dnhd1	A	G	7: 105,668,514	D472G	probably damaging	Het
Dpp6	C	A	5: 27,598,819	N254K	probably damaging	Het
Eps8l3	T	C	3: 107,879,541	L11S	probably damaging	Het
Flad1	G	A	3: 89,402,245	R515*	probably null	Het
Fzd5	T	C	1: 64,735,676	T309A	probably benign	Het
Gm19685	T	C	17: 60,768,423			Het
Gsdme	A	G	6: 50,221,029	I317T	possibly damaging	Het
Hist1h2ba	A	T	13: 23,933,945	I71N	possibly damaging	Het
Itgad	T	C	7: 128,202,986	S979P	probably damaging	Het
Kat2b	T	C	17: 53,654,543	V557A	probably damaging	Het
Lamc1	A	T	1: 153,241,868		probably benign	Het
Lgi4	G	A	7: 31,063,571	G157D	probably damaging	Het
Mga	T	C	2: 119,960,961		probably null	Het
Nubpl	T	C	12: 52,310,687		probably benign	Het
Olfr1105	T	C	2: 87,033,774	Y149C	probably damaging	Het
Olfr124	T	C	17: 37,806,000	L285P	probably damaging	Het
Olfr898	C	T	9: 38,349,512	S143F	probably benign	Het
Peak1	A	T	9: 56,227,823	I78K	probably damaging	Het
Prune2	T	A	19: 17,003,733	F85I	probably damaging	Het
Rbm11	G	T	16: 75,598,779	D113Y	probably damaging	Het
Rif1	C	T	2: 52,111,117	R1528C	probably damaging	Het
Sema4d	A	G	13: 51,705,257		probably benign	Het
Slc30a4	T	A	2: 122,685,184	T381S	probably benign	Het
Slf2	G	T	19: 44,948,004	G696V	probably damaging	Het
Suv39h2	T	C	2: 3,464,916	Y134C	probably damaging	Het
Tmem89	T	A	9: 108,915,417	V126D	probably damaging	Het
Trf	T	C	9: 103,220,922	T46A	probably benign	Het
Trmt6	C	T	2: 132,806,769	R415Q	possibly damaging	Het
Trp53bp1	T	C	2: 121,204,525	K1625E	probably damaging	Het
Usp6nl	T	A	2: 6,440,890	D559E	probably benign	Het
Wdr75	A	G	1: 45,816,617	D476G	probably benign	Het
Wrap53	A	C	11: 69,563,430	L261V	possibly damaging	Het
Zcchc4	T	A	5: 52,807,078	I292N	possibly damaging	Het

Other mutations in Incenp

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01324:Incenp	APN	19	9883728	missense	unknown
IGL01717:Incenp	APN	19	9893265	splice site	probably benign
IGL02485:Incenp	APN	19	9893368	missense	unknown
IGL02488:Incenp	APN	19	9893407	missense	unknown
B5639:Incenp	UTSW	19	9893818	missense	unknown
R0164:Incenp	UTSW	19	9894879	missense	probably benign	0.23
R0164:Incenp	UTSW	19	9894879	missense	probably benign	0.23
R0242:Incenp	UTSW	19	9893750	missense	unknown
R0242:Incenp	UTSW	19	9893750	missense	unknown
R0284:Incenp	UTSW	19	9893993	missense	unknown
R1264:Incenp	UTSW	19	9884015	missense	unknown
R1432:Incenp	UTSW	19	9885526	missense	unknown
R1679:Incenp	UTSW	19	9895414	missense	unknown
R1827:Incenp	UTSW	19	9872729	missense	possibly damaging	0.94
R1970:Incenp	UTSW	19	9885487	missense	unknown
R3082:Incenp	UTSW	19	9883779	missense	unknown
R3083:Incenp	UTSW	19	9883779	missense	unknown
R4062:Incenp	UTSW	19	9883778	missense	unknown
R4063:Incenp	UTSW	19	9883778	missense	unknown
R4534:Incenp	UTSW	19	9883939	missense	unknown
R4535:Incenp	UTSW	19	9883939	missense	unknown
R4536:Incenp	UTSW	19	9883939	missense	unknown
R4709:Incenp	UTSW	19	9876600	missense	unknown
R4785:Incenp	UTSW	19	9877690	missense	unknown
R4785:Incenp	UTSW	19	9877691	missense	unknown
R5179:Incenp	UTSW	19	9894909	missense	unknown
R5282:Incenp	UTSW	19	9878406	missense	unknown
R5400:Incenp	UTSW	19	9877675	critical splice donor site	probably null
R5502:Incenp	UTSW	19	9893364	missense	unknown
R5608:Incenp	UTSW	19	9893868	small insertion	probably benign
R6033:Incenp	UTSW	19	9872697	missense	probably damaging	0.99
R6033:Incenp	UTSW	19	9872697	missense	probably damaging	0.99
R6807:Incenp	UTSW	19	9877756	missense	unknown
R6885:Incenp	UTSW	19	9875132	missense	unknown
R6959:Incenp	UTSW	19	9876770	missense	unknown
R7033:Incenp	UTSW	19	9893372	missense	unknown
R8258:Incenp	UTSW	19	9893629	missense	unknown
R8258:Incenp	UTSW	19	9893641	missense	unknown
R8259:Incenp	UTSW	19	9893629	missense	unknown
R8259:Incenp	UTSW	19	9893641	missense	unknown
R8293:Incenp	UTSW	19	9875133	nonsense	probably null
R9005:Incenp	UTSW	19	9877724	nonsense	probably null
R9491:Incenp	UTSW	19	9876777	missense	unknown
Z1176:Incenp	UTSW	19	9877687	missense	unknown
Z1177:Incenp	UTSW	19	9899364	start gained	probably benign

Posted On

2013-03-25