Mutagenetix > Incidental Mutation

Incidental Mutation 'R1970:Incenp'

219845

Institutional Source

Beutler Lab

Gene Symbol

Incenp

Ensembl Gene

ENSMUSG00000024660

Gene Name

inner centromere protein

Synonyms

2700067E22Rik

MMRRC Submission

039983-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R1970 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

9872297-9899533 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 9885487 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Asparagine at position 401 (T401N)

Ref Sequence

ENSEMBL: ENSMUSP00000025562 (fasta)

Gene Model

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

AlphaFold

Q9WU62

Predicted Effect

unknown
Transcript: ENSMUST00000025562
AA Change: T401N

SMART Domains

Protein: ENSMUSP00000025562
Gene: ENSMUSG00000024660
AA Change: T401N

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: 98.5%
10x: 96.8%
20x: 94.2%

Validation Efficiency

97% (121/125)

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: 121 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca17	A	T	17: 24,307,575 (GRCm38)	H578Q	probably benign	Het
Abcc12	A	G	8: 86,527,281 (GRCm38)	I958T	probably benign	Het
Abcg5	AATCATTTG	AG	17: 84,673,602 (GRCm38)		probably null	Het
Acap2	A	G	16: 31,133,527 (GRCm38)		probably null	Het
Adgrb1	T	C	15: 74,539,877 (GRCm38)		probably benign	Het
Akap6	T	A	12: 52,938,475 (GRCm38)	V897E	probably damaging	Het
Als2	A	T	1: 59,215,169 (GRCm38)	L343Q	probably benign	Het
Arhgap5	A	G	12: 52,542,593 (GRCm38)	I1275M	probably damaging	Het
Arnt	C	T	3: 95,448,393 (GRCm38)	S16L	possibly damaging	Het
Bglap3	C	T	3: 88,376,993 (GRCm38)		probably benign	Het
Blnk	T	C	19: 40,940,165 (GRCm38)		probably benign	Het
C1qtnf4	T	C	2: 90,889,659 (GRCm38)	M92T	probably damaging	Het
Ccdc177	G	A	12: 80,758,712 (GRCm38)	R263C	unknown	Het
Ccdc83	T	A	7: 90,244,154 (GRCm38)	S132C	probably damaging	Het
Cdc7	A	G	5: 106,973,074 (GRCm38)		probably benign	Het
Cgnl1	T	A	9: 71,725,535 (GRCm38)	N178I	probably benign	Het
Col27a1	C	T	4: 63,273,117 (GRCm38)		probably benign	Het
Col5a1	A	T	2: 27,986,754 (GRCm38)	M822L	unknown	Het
Coro7	T	C	16: 4,633,756 (GRCm38)	I451V	probably benign	Het
Csmd3	T	C	15: 48,673,531 (GRCm38)	T92A	probably damaging	Het
Ddc	A	G	11: 11,815,292 (GRCm38)	V460A	possibly damaging	Het
Ddx4	C	T	13: 112,600,013 (GRCm38)	V608I	probably damaging	Het
Ddx60	A	T	8: 61,972,206 (GRCm38)	H676L	possibly damaging	Het
Dmtf1	T	C	5: 9,148,989 (GRCm38)	E48G	probably benign	Het
Dpf3	T	A	12: 83,325,035 (GRCm38)		probably null	Het
Dydc2	A	G	14: 41,061,903 (GRCm38)	C88R	probably benign	Het
Elovl4	A	G	9: 83,780,719 (GRCm38)	Y163H	probably damaging	Het
Enpp2	T	C	15: 54,882,982 (GRCm38)	D296G	probably damaging	Het
Fam83h	G	T	15: 76,006,570 (GRCm38)		probably benign	Het
Fbf1	T	A	11: 116,151,491 (GRCm38)	Q511L	possibly damaging	Het
Fhdc1	A	T	3: 84,454,851 (GRCm38)	L323Q	probably damaging	Het
Fmnl2	T	A	2: 53,105,576 (GRCm38)	V437D	possibly damaging	Het
Foxo3	A	G	10: 42,197,262 (GRCm38)	S420P	probably benign	Het
Foxp4	C	T	17: 47,875,871 (GRCm38)	R378Q	unknown	Het
Garem2	G	T	5: 30,117,174 (GRCm38)	G844*	probably null	Het
Glmp	T	C	3: 88,327,870 (GRCm38)	L269S	probably damaging	Het
Gm9915	T	C	1: 42,230,721 (GRCm38)		noncoding transcript	Het
Gnb4	A	T	3: 32,598,141 (GRCm38)	D27E	probably damaging	Het
Gnb5	A	G	9: 75,344,650 (GRCm38)		probably null	Het
Gpr161	T	G	1: 165,306,358 (GRCm38)	V63G	probably damaging	Het
Gsk3a	T	A	7: 25,229,721 (GRCm38)		probably benign	Het
Hapln2	T	C	3: 88,024,120 (GRCm38)		probably null	Het
Kalrn	A	G	16: 33,977,524 (GRCm38)		probably null	Het
Kcnq3	A	G	15: 66,028,623 (GRCm38)		probably null	Het
Kif21b	T	C	1: 136,171,156 (GRCm38)	V1394A	probably damaging	Het
Klhl23	T	C	2: 69,833,686 (GRCm38)	C460R	probably damaging	Het
L3mbtl1	G	A	2: 162,959,572 (GRCm38)	A291T	probably damaging	Het
Lcp1	T	C	14: 75,200,506 (GRCm38)	S119P	probably damaging	Het
Ldhc	A	G	7: 46,869,751 (GRCm38)	I133V	probably benign	Het
Lmntd2	G	A	7: 141,212,059 (GRCm38)		probably benign	Het
Lpl	A	T	8: 68,896,802 (GRCm38)	K327*	probably null	Het
Lrp1b	T	C	2: 40,875,069 (GRCm38)	D2801G	probably damaging	Het
Mppe1	C	A	18: 67,229,772 (GRCm38)	A131S	probably benign	Het
Msh3	T	A	13: 92,249,820 (GRCm38)		probably benign	Het
Msh5	A	G	17: 35,033,600 (GRCm38)	I377T	probably damaging	Het
Myo1e	T	C	9: 70,368,773 (GRCm38)	F757L	probably benign	Het
Myof	A	T	19: 37,945,634 (GRCm38)	D955E	probably damaging	Het
Nckap1	C	T	2: 80,517,942 (GRCm38)	S889N	probably benign	Het
Ncor2	T	C	5: 125,038,918 (GRCm38)	D858G	probably damaging	Het
Neb	A	T	2: 52,263,905 (GRCm38)	V2398D	possibly damaging	Het
Nefl	C	G	14: 68,086,672 (GRCm38)	T453R	probably benign	Het
Nf1	A	G	11: 79,553,961 (GRCm38)	N371D	probably benign	Het
Nhsl3	A	G	4: 129,226,017 (GRCm38)		probably benign	Het
Nlrp4f	T	C	13: 65,194,091 (GRCm38)	Y580C	probably damaging	Het
Nme8	A	C	13: 19,652,322 (GRCm38)	L228R	probably damaging	Het
Numa1	C	T	7: 102,009,322 (GRCm38)	A1605V	probably damaging	Het
Ofd1	T	C	X: 166,427,214 (GRCm38)	Y205C	probably benign	Het
Olfr1532-ps1	G	A	7: 106,914,246 (GRCm38)	G16D	probably damaging	Het
Or2ag12	T	A	7: 106,677,670 (GRCm38)	N272I	probably damaging	Het
Or4k77	C	T	2: 111,369,076 (GRCm38)	S148L	probably benign	Het
Or8g55	T	A	9: 39,873,938 (GRCm38)	I221N	probably damaging	Het
Or8k3	T	A	2: 86,228,252 (GRCm38)	T240S	probably damaging	Het
Pclo	A	G	5: 14,713,473 (GRCm38)	T3987A	unknown	Het
Pdgfrb	G	A	18: 61,066,494 (GRCm38)		probably benign	Het
Pdxk	G	A	10: 78,441,154 (GRCm38)	T270I	probably damaging	Het
Pex5	T	C	6: 124,414,405 (GRCm38)	E10G	probably damaging	Het
Pik3c2g	T	A	6: 139,900,386 (GRCm38)		probably null	Het
Pkhd1	T	A	1: 20,381,523 (GRCm38)	I2183F	probably damaging	Het
Plppr2	T	C	9: 21,941,126 (GRCm38)	V102A	probably damaging	Het
Plxnd1	T	C	6: 115,962,517 (GRCm38)	T1449A	probably damaging	Het
Pnkd	T	A	1: 74,285,910 (GRCm38)		probably null	Het
Pom121l2	A	G	13: 21,983,472 (GRCm38)	I638V	probably damaging	Het
Prag1	A	G	8: 36,129,160 (GRCm38)		probably null	Het
Ranbp10	A	G	8: 105,786,708 (GRCm38)	F191L	probably damaging	Het
Rapgef1	T	C	2: 29,733,711 (GRCm38)	L824P	probably damaging	Het
Rec8	T	C	14: 55,624,142 (GRCm38)	L418P	probably damaging	Het
Rimbp2	T	A	5: 128,797,241 (GRCm38)	N429Y	probably damaging	Het
Rpe65	C	A	3: 159,615,670 (GRCm38)	T373K	probably benign	Het
Rpl35rt	T	G	1: 156,366,447 (GRCm38)	*124G	probably null	Het
Rrn3	T	C	16: 13,789,074 (GRCm38)	S151P	probably damaging	Het
Scn7a	A	G	2: 66,684,289 (GRCm38)	V1047A	possibly damaging	Het
Scn9a	G	T	2: 66,515,380 (GRCm38)	P1123Q	probably damaging	Het
Secisbp2l	T	C	2: 125,747,510 (GRCm38)	D706G	probably damaging	Het
Serpina5	A	T	12: 104,103,857 (GRCm38)	T338S	probably benign	Het
Sez6	G	A	11: 77,954,068 (GRCm38)		probably null	Het
Shisa4	C	T	1: 135,372,274 (GRCm38)	G157D	probably damaging	Het
Slc1a7	G	T	4: 107,968,585 (GRCm38)	D14Y	probably benign	Het
Slc25a11	A	C	11: 70,646,173 (GRCm38)	L51V	probably benign	Het
Slit3	A	G	11: 35,630,841 (GRCm38)		probably null	Het
Spata13	G	T	14: 60,691,463 (GRCm38)	G157W	probably damaging	Het
Spta1	T	C	1: 174,240,367 (GRCm38)	V2120A	possibly damaging	Het
Srpra	T	C	9: 35,213,538 (GRCm38)		probably null	Het
Syt6	A	G	3: 103,587,420 (GRCm38)	I234V	probably benign	Het
Thada	G	T	17: 84,310,042 (GRCm38)	P1349T	probably damaging	Het
Tmem161a	C	T	8: 70,176,909 (GRCm38)	R58W	probably damaging	Het
Top3b	A	G	16: 16,883,519 (GRCm38)	I232V	probably damaging	Het
Tspan1	T	A	4: 116,163,629 (GRCm38)	Q197L	possibly damaging	Het
Ttc28	A	C	5: 111,235,635 (GRCm38)	Y1334S	probably benign	Het
Ubxn6	G	T	17: 56,073,077 (GRCm38)	N28K	possibly damaging	Het
Uggt1	T	C	1: 36,151,781 (GRCm38)	D1366G	probably damaging	Het
Ugp2	A	G	11: 21,328,942 (GRCm38)	S415P	probably damaging	Het
Vcan	A	T	13: 89,689,038 (GRCm38)	S2796T	probably damaging	Het
Vipr2	T	C	12: 116,136,206 (GRCm38)	V231A	probably benign	Het
Vmn1r176	T	C	7: 23,834,948 (GRCm38)	N260S	probably benign	Het
Vmn1r59	A	T	7: 5,454,039 (GRCm38)	Y241N	probably damaging	Het
Vmn2r67	A	T	7: 85,151,805 (GRCm38)	Y308N	probably benign	Het
Vmn2r75	A	T	7: 86,148,262 (GRCm38)	M781K	probably damaging	Het
Vwa3a	A	T	7: 120,780,171 (GRCm38)	I500F	probably damaging	Het
Zfp609	A	G	9: 65,795,277 (GRCm38)	V31A	probably damaging	Het
Zfp689	G	T	7: 127,444,787 (GRCm38)	Q224K	probably damaging	Het
Zfp81	A	T	17: 33,335,501 (GRCm38)	L113H	probably benign	Het

Other mutations in Incenp

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01324:Incenp	APN	19	9,883,728 (GRCm38)	missense	unknown
IGL01717:Incenp	APN	19	9,893,265 (GRCm38)	splice site	probably benign
IGL02485:Incenp	APN	19	9,893,368 (GRCm38)	missense	unknown
IGL02488:Incenp	APN	19	9,893,407 (GRCm38)	missense	unknown
B5639:Incenp	UTSW	19	9,893,818 (GRCm38)	missense	unknown
R0060:Incenp	UTSW	19	9,885,459 (GRCm38)	splice site	probably benign
R0164:Incenp	UTSW	19	9,894,879 (GRCm38)	missense	probably benign	0.23
R0164:Incenp	UTSW	19	9,894,879 (GRCm38)	missense	probably benign	0.23
R0242:Incenp	UTSW	19	9,893,750 (GRCm38)	missense	unknown
R0242:Incenp	UTSW	19	9,893,750 (GRCm38)	missense	unknown
R0284:Incenp	UTSW	19	9,893,993 (GRCm38)	missense	unknown
R1264:Incenp	UTSW	19	9,884,015 (GRCm38)	missense	unknown
R1432:Incenp	UTSW	19	9,885,526 (GRCm38)	missense	unknown
R1679:Incenp	UTSW	19	9,895,414 (GRCm38)	missense	unknown
R1827:Incenp	UTSW	19	9,872,729 (GRCm38)	missense	possibly damaging	0.94
R3082:Incenp	UTSW	19	9,883,779 (GRCm38)	missense	unknown
R3083:Incenp	UTSW	19	9,883,779 (GRCm38)	missense	unknown
R4062:Incenp	UTSW	19	9,883,778 (GRCm38)	missense	unknown
R4063:Incenp	UTSW	19	9,883,778 (GRCm38)	missense	unknown
R4534:Incenp	UTSW	19	9,883,939 (GRCm38)	missense	unknown
R4535:Incenp	UTSW	19	9,883,939 (GRCm38)	missense	unknown
R4536:Incenp	UTSW	19	9,883,939 (GRCm38)	missense	unknown
R4709:Incenp	UTSW	19	9,876,600 (GRCm38)	missense	unknown
R4785:Incenp	UTSW	19	9,877,690 (GRCm38)	missense	unknown
R4785:Incenp	UTSW	19	9,877,691 (GRCm38)	missense	unknown
R5179:Incenp	UTSW	19	9,894,909 (GRCm38)	missense	unknown
R5282:Incenp	UTSW	19	9,878,406 (GRCm38)	missense	unknown
R5400:Incenp	UTSW	19	9,877,675 (GRCm38)	critical splice donor site	probably null
R5502:Incenp	UTSW	19	9,893,364 (GRCm38)	missense	unknown
R5608:Incenp	UTSW	19	9,893,868 (GRCm38)	small insertion	probably benign
R6033:Incenp	UTSW	19	9,872,697 (GRCm38)	missense	probably damaging	0.99
R6033:Incenp	UTSW	19	9,872,697 (GRCm38)	missense	probably damaging	0.99
R6807:Incenp	UTSW	19	9,877,756 (GRCm38)	missense	unknown
R6885:Incenp	UTSW	19	9,875,132 (GRCm38)	missense	unknown
R6959:Incenp	UTSW	19	9,876,770 (GRCm38)	missense	unknown
R7033:Incenp	UTSW	19	9,893,372 (GRCm38)	missense	unknown
R8258:Incenp	UTSW	19	9,893,641 (GRCm38)	missense	unknown
R8258:Incenp	UTSW	19	9,893,629 (GRCm38)	missense	unknown
R8259:Incenp	UTSW	19	9,893,641 (GRCm38)	missense	unknown
R8259:Incenp	UTSW	19	9,893,629 (GRCm38)	missense	unknown
R8293:Incenp	UTSW	19	9,875,133 (GRCm38)	nonsense	probably null
R9005:Incenp	UTSW	19	9,877,724 (GRCm38)	nonsense	probably null
R9491:Incenp	UTSW	19	9,876,777 (GRCm38)	missense	unknown
R9665:Incenp	UTSW	19	9,893,965 (GRCm38)	missense	unknown
Z1176:Incenp	UTSW	19	9,877,687 (GRCm38)	missense	unknown
Z1177:Incenp	UTSW	19	9,899,364 (GRCm38)	start gained	probably benign

Predicted Primers

PCR Primer
(F):5'- GCTTTAAGACCTTCACATGACAGTC -3'
(R):5'- TCCAGGTCTGAAGCTCTGTG -3'

Sequencing Primer
(F):5'- TTCACATGACAGTCTCATACCG -3'
(R):5'- TCTGAAGCTCTGTGCCACG -3'

Posted On

2014-08-25