Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL01717:Incenp'

104991

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Incenp

Ensembl Gene

ENSMUSG00000024660

Gene Name

inner centromere protein

Synonyms

2700067E22Rik

Accession Numbers

Genbank: NM_016692

Is this an essential gene?

Essential (E-score: 1.000) question?

Stock #

IGL01717

Quality Score

Status

Chromosome

Chromosomal Location

9872297-9899533 bp(-) (GRCm38)

Type of Mutation

splice site

DNA Base Change (assembly)

A to G at 9893265 bp

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000025562 (fasta)

Gene Model

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

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

Validation Efficiency

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: 32 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4932438A13Rik	A	G	3: 37,034,736	S4112G	probably benign	Het
Aif1	A	T	17: 35,171,555	M73K	probably damaging	Het
Alk	T	C	17: 72,603,382	I110V	probably benign	Het
Aoah	T	C	13: 20,999,977	S404P	probably damaging	Het
Bhlhe41	A	G	6: 145,863,037	S350P	possibly damaging	Het
Capn12	A	G	7: 28,889,105	D540G	probably benign	Het
Chd6	A	G	2: 160,965,259	Y2012H	possibly damaging	Het
Col1a1	A	G	11: 94,950,777	T1284A	unknown	Het
Col24a1	T	C	3: 145,524,263		probably benign	Het
Col4a5	T	A	X: 141,639,238	V1070D	unknown	Het
Col6a5	T	C	9: 105,940,273	T280A	unknown	Het
Dicer1	A	T	12: 104,702,787	L1212*	probably null	Het
Gigyf1	T	A	5: 137,525,691	V1041E	probably damaging	Het
Gm4978	C	T	9: 69,450,873		probably benign	Het
Gnai1	A	G	5: 18,291,461		probably null	Het
Golgb1	C	T	16: 36,915,502	R1704*	probably null	Het
Lrrc39	A	T	3: 116,579,497		probably benign	Het
Man2a2	T	C	7: 80,367,365	K319E	probably damaging	Het
Neb	T	C	2: 52,189,867	D83G	probably damaging	Het
Osbpl6	T	C	2: 76,588,594	I732T	probably damaging	Het
Pacs1	T	A	19: 5,167,972	K130N	probably damaging	Het
Pappa2	A	G	1: 158,857,132		probably null	Het
Pole2	T	C	12: 69,213,849	M186V	probably damaging	Het
Rwdd4a	T	C	8: 47,544,105		probably benign	Het
Sel1l3	A	G	5: 53,200,168	Y161H	probably damaging	Het
Sf3a2	C	T	10: 80,804,692	Q446*	probably null	Het
Slc26a3	T	C	12: 31,463,477	I466T	probably benign	Het
Slc29a4	A	T	5: 142,718,746	I348F	probably damaging	Het
Tbl1xr1	A	G	3: 22,193,171		probably benign	Het
Tlr5	A	T	1: 182,975,398	I756F	probably damaging	Het
Ttn	T	A	2: 76,730,402	L29218F	probably damaging	Het
Ttn	A	T	2: 76,730,404	L29218I	probably damaging	Het

Other mutations in Incenp

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01324:Incenp	APN	19	9883728	missense	unknown
IGL02485:Incenp	APN	19	9893368	missense	unknown
IGL02488:Incenp	APN	19	9893407	missense	unknown
B5639:Incenp	UTSW	19	9893818	missense	unknown
R0060:Incenp	UTSW	19	9885459	splice site	probably benign
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
Z1176:Incenp	UTSW	19	9877687	missense	unknown
Z1177:Incenp	UTSW	19	9899364	start gained	probably benign

Posted On

2014-01-21