Mutagenetix > Incidental Mutation

Incidental Mutation 'R4928:Ncapd3'

381013

Institutional Source

Beutler Lab

Gene Symbol

Ncapd3

Ensembl Gene

ENSMUSG00000035024

Gene Name

non-SMC condensin II complex, subunit D3

Synonyms

4632407J06Rik, B130055D15Rik, 2810487N22Rik

MMRRC Submission

042529-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.967) question?

Stock #

R4928 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

27030175-27095315 bp(+) (GRCm38)

Type of Mutation

nonsense

DNA Base Change (assembly)

T to A at 27071735 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Cysteine to Stop codon at position 926 (C926*)

Ref Sequence

ENSEMBL: ENSMUSP00000150938 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000073127] [ENSMUST00000086198] [ENSMUST00000216677]

AlphaFold

no structure available at present

Predicted Effect

probably null
Transcript: ENSMUST00000073127
AA Change: C926*

SMART Domains

Protein: ENSMUSP00000072871
Gene: ENSMUSG00000035024
AA Change: C926*

Domain	Start	End	E-Value	Type
low complexity region	159	170	N/A	INTRINSIC
low complexity region	173	184	N/A	INTRINSIC
Pfam:Cnd1	949	1148	1.7e-46	PFAM
low complexity region	1192	1200	N/A	INTRINSIC
coiled coil region	1213	1270	N/A	INTRINSIC
low complexity region	1290	1315	N/A	INTRINSIC
low complexity region	1393	1410	N/A	INTRINSIC
low complexity region	1485	1498	N/A	INTRINSIC

Predicted Effect

probably null
Transcript: ENSMUST00000086198
AA Change: C926*

SMART Domains

Protein: ENSMUSP00000083374
Gene: ENSMUSG00000035024
AA Change: C926*

Domain	Start	End	E-Value	Type
low complexity region	159	170	N/A	INTRINSIC
low complexity region	173	184	N/A	INTRINSIC
Pfam:Cohesin_HEAT	536	560	4.6e-5	PFAM
Pfam:Cnd1	949	1148	6.6e-59	PFAM
low complexity region	1192	1200	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000214270

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000214432

Predicted Effect

probably null
Transcript: ENSMUST00000216677
AA Change: C926*

Meta Mutation Damage Score

0.9755

Coding Region Coverage

1x: 99.1%
3x: 98.3%
10x: 96.3%
20x: 92.5%

Validation Efficiency

98% (123/126)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Condensin complexes I and II play essential roles in mitotic chromosome assembly and segregation. Both condensins contain 2 invariant structural maintenance of chromosome (SMC) subunits, SMC2 (MIM 605576) and SMC4 (MIM 605575), but they contain different sets of non-SMC subunits. NCAPD3 is 1 of 3 non-SMC subunits that define condensin II (Ono et al., 2003 [PubMed 14532007]).[supplied by OMIM, Mar 2008]

Allele List at MGI

Other mutations in this stock

Total: 110 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A530021J07Rik	G	T	7: 83,155,878		noncoding transcript	Het
Aasdh	T	A	5: 76,896,688	K118N	possibly damaging	Het
Abca14	A	T	7: 120,324,580	N1620I	possibly damaging	Het
Acap1	A	T	11: 69,885,815	S149T	possibly damaging	Het
Adgre1	T	A	17: 57,444,064	Y579*	probably null	Het
AI314180	A	G	4: 58,827,073	V1020A	probably damaging	Het
Aifm3	T	C	16: 17,500,432		probably benign	Het
Aldh16a1	A	G	7: 45,141,961	W107R	probably damaging	Het
Amer2	A	T	14: 60,379,445	H363L	possibly damaging	Het
Arhgap10	A	G	8: 77,426,328		probably null	Het
Arhgef6	A	T	X: 57,234,878	D742E	probably damaging	Het
Astn2	A	T	4: 65,729,407	N731K	probably damaging	Het
Atp1a2	T	C	1: 172,278,387	T904A	possibly damaging	Het
Atr	C	T	9: 95,907,299	R1503W	probably damaging	Het
Cdh3	G	T	8: 106,536,610	R97L	probably benign	Het
Chst2	C	T	9: 95,406,006	V96I	probably benign	Het
Cit	T	A	5: 115,985,797	N1464K	probably benign	Het
Col17a1	A	T	19: 47,670,458		probably null	Het
Col4a3	G	A	1: 82,710,977		probably benign	Het
Copz1	T	A	15: 103,291,330	S57R	probably damaging	Het
Cpped1	A	T	16: 11,828,279	F227Y	probably damaging	Het
Cyp2j12	A	T	4: 96,102,151		probably null	Het
Dctn1	T	A	6: 83,189,207	I195N	possibly damaging	Het
Dhrs7b	A	G	11: 60,851,925	I148V	probably benign	Het
Dnah17	T	C	11: 118,027,433	D4096G	probably damaging	Het
Dnajc13	T	C	9: 104,233,638	N145D	possibly damaging	Het
Ercc6l2	T	C	13: 63,894,813		probably benign	Het
Fads6	T	G	11: 115,296,561	I103L	probably benign	Het
Fam189a1	G	T	7: 64,759,368	S426*	probably null	Het
Fat4	T	G	3: 39,010,465	Y4857D	probably damaging	Het
Fbxl14	T	A	6: 119,480,710	L284Q	probably damaging	Het
Fkbp9	T	C	6: 56,849,670	V85A	possibly damaging	Het
Galnt13	T	A	2: 54,516,565	V9E	probably damaging	Het
Gm14412	A	T	2: 177,314,580	S507R	probably benign	Het
Gm15142	T	A	X: 154,638,419		noncoding transcript	Het
Gm4787	T	C	12: 81,378,838	E182G	probably benign	Het
Gm6811	C	A	17: 21,094,631		noncoding transcript	Het
Gm9791	A	T	3: 34,005,069		noncoding transcript	Het
Hoxb7	A	T	11: 96,289,510		probably null	Het
Ift122	T	A	6: 115,915,858		probably benign	Het
Krt28	C	T	11: 99,374,632	V70I	probably benign	Het
Lig1	T	C	7: 13,298,738	S459P	probably damaging	Het
Lrfn3	C	T	7: 30,360,623	R59H	possibly damaging	Het
Mavs	T	C	2: 131,246,743	V489A	probably benign	Het
Mcm8	C	T	2: 132,839,479	P625L	probably benign	Het
Megf10	G	T	18: 57,240,673	R181L	probably benign	Het
Mgrn1	G	A	16: 4,927,862	G440D	probably benign	Het
Mllt3	T	C	4: 87,782,405		probably null	Het
Muc5ac	T	A	7: 141,817,902	Y2613*	probably null	Het
Myh14	C	T	7: 44,635,502	G662S	probably benign	Het
Myod1	T	A	7: 46,377,050	N126K	probably damaging	Het
Nae1	A	T	8: 104,516,142	H439Q	possibly damaging	Het
Narf	T	A	11: 121,244,939	V136E	possibly damaging	Het
Ndufv2	C	A	17: 66,092,658		probably null	Het
Neb	T	C	2: 52,212,975	S449G	possibly damaging	Het
Nek10	C	T	14: 14,930,577	P698L	probably damaging	Het
Nox3	T	A	17: 3,635,275	E566V	probably null	Het
Oas1a	C	T	5: 120,905,724	R115H	probably benign	Het
Olfr1076	T	A	2: 86,509,125	L222H	probably damaging	Het
Olfr1130	C	A	2: 87,608,143	L252I	probably benign	Het
Olfr1152	A	G	2: 87,868,230	M80V	probably benign	Het
Olfr65	A	G	7: 103,906,672	T78A	probably damaging	Het
Pbld2	A	G	10: 63,047,999	H142R	probably damaging	Het
Pcdha4	C	T	18: 36,954,816	T684M	probably benign	Het
Phc3	G	T	3: 30,950,919	T175N	probably damaging	Het
Pigs	G	T	11: 78,329,002	V68L	probably damaging	Het
Pik3c2g	T	A	6: 139,967,802	D857E	possibly damaging	Het
Pitpnm3	G	A	11: 72,063,172	P550S	probably damaging	Het
Pla2g15	G	A	8: 106,163,218	W374*	probably null	Het
Ptpn14	G	A	1: 189,822,642	C133Y	probably damaging	Het
Ptpn20	A	G	14: 33,614,489	N95S	probably benign	Het
Ptrh2	G	T	11: 86,690,036	V160F	probably damaging	Het
Rapgef3	T	C	15: 97,757,375	D486G	probably damaging	Het
Rev3l	T	G	10: 39,823,985	S1493A	probably benign	Het
Rgs9	T	A	11: 109,225,744	D411V	probably benign	Het
Rgsl1	A	T	1: 153,793,768	Y291N	probably damaging	Het
Rprd2	A	G	3: 95,764,537	Y1185H	probably damaging	Het
Rpusd3	A	G	6: 113,416,206		probably benign	Het
Scnn1a	T	C	6: 125,322,173	I72T	probably damaging	Het
Sdk1	A	T	5: 141,857,003		probably benign	Het
Sfmbt2	T	C	2: 10,445,745	L277P	probably benign	Het
Sgf29	A	G	7: 126,664,982	E73G	probably damaging	Het
Slc12a6	T	A	2: 112,352,961	F764L	probably damaging	Het
Slc4a2	T	C	5: 24,435,342		probably null	Het
Slc9a3	T	G	13: 74,157,719	V285G	probably damaging	Het
Slc9c1	A	G	16: 45,575,409	T608A	probably benign	Het
Slfnl1	C	T	4: 120,535,685	R325C	probably damaging	Het
Smarcad1	T	A	6: 65,074,914	F344I	probably benign	Het
Snrnp70	A	T	7: 45,377,281		probably null	Het
Sod2	C	T	17: 13,008,186	T9M	probably benign	Het
Spag5	T	A	11: 78,314,373	S633T	probably damaging	Het
Spta1	A	T	1: 174,191,056	I531L	probably benign	Het
Stra8	A	G	6: 34,933,156	E60G	probably benign	Het
Sult2a3	T	A	7: 14,111,557	I126F	probably benign	Het
Syt1	T	C	10: 108,504,512	H315R	possibly damaging	Het
Tanc2	T	C	11: 105,867,762	L783P	probably damaging	Het
Thbs2	C	T	17: 14,678,900	C646Y	probably damaging	Het
Ticam2	T	A	18: 46,560,922	K33*	probably null	Het
Trim17	T	C	11: 58,954,301		probably benign	Het
Tsr1	G	A	11: 74,907,879	M691I	probably benign	Het
Ttn	T	A	2: 76,762,419	I20790F	probably damaging	Het
Tubb2b	A	T	13: 34,128,185	Y208*	probably null	Het
Ubr1	T	A	2: 120,914,938	I890F	probably damaging	Het
Usp54	T	C	14: 20,562,192	E852G	probably damaging	Het
Vmn2r78	T	C	7: 86,954,627	V671A	probably damaging	Het
Wipi1	T	C	11: 109,579,649	K315E	probably benign	Het
Xrn2	T	C	2: 147,051,718	V735A	possibly damaging	Het
Zdbf2	T	A	1: 63,308,814	D2117E	possibly damaging	Het
Zfp287	A	T	11: 62,714,136	C648*	probably null	Het
Zfp369	A	G	13: 65,296,800	T586A	possibly damaging	Het

Other mutations in Ncapd3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00339:Ncapd3	APN	9	27052353	missense	probably benign
IGL00544:Ncapd3	APN	9	27063338	missense	possibly damaging	0.94
IGL01657:Ncapd3	APN	9	27071824	missense	possibly damaging	0.81
IGL01979:Ncapd3	APN	9	27071965	critical splice donor site	probably null
IGL02073:Ncapd3	APN	9	27063316	missense	probably benign	0.03
IGL02083:Ncapd3	APN	9	27051821	missense	probably damaging	1.00
IGL02383:Ncapd3	APN	9	27050328	missense	probably benign	0.44
IGL02429:Ncapd3	APN	9	27089302	missense	probably benign	0.08
IGL02437:Ncapd3	APN	9	27063968	splice site	probably benign
IGL02861:Ncapd3	APN	9	27069899	missense	probably benign	0.00
IGL03202:Ncapd3	APN	9	27071715	splice site	probably benign
IGL03219:Ncapd3	APN	9	27063873	splice site	probably benign
IGL03252:Ncapd3	APN	9	27051449	missense	probably damaging	1.00
pevensie	UTSW	9	27086046	missense	probably damaging	1.00
R0015:Ncapd3	UTSW	9	27051809	missense	probably damaging	1.00
R0015:Ncapd3	UTSW	9	27051809	missense	probably damaging	1.00
R0084:Ncapd3	UTSW	9	27056111	missense	probably damaging	0.98
R0491:Ncapd3	UTSW	9	27057883	missense	probably damaging	0.97
R0513:Ncapd3	UTSW	9	27064105	splice site	probably benign
R0565:Ncapd3	UTSW	9	27087998	missense	probably benign	0.00
R0601:Ncapd3	UTSW	9	27041507	missense	probably benign	0.05
R0671:Ncapd3	UTSW	9	27087477	missense	probably benign	0.00
R0673:Ncapd3	UTSW	9	27087477	missense	probably benign	0.00
R0842:Ncapd3	UTSW	9	27037084	missense	probably benign	0.01
R1178:Ncapd3	UTSW	9	27041421	missense	probably benign
R1366:Ncapd3	UTSW	9	27057940	missense	probably damaging	1.00
R1432:Ncapd3	UTSW	9	27069872	splice site	probably benign
R1439:Ncapd3	UTSW	9	27087566	critical splice donor site	probably null
R1532:Ncapd3	UTSW	9	27083360	nonsense	probably null
R2131:Ncapd3	UTSW	9	27083346	missense	probably damaging	0.98
R2178:Ncapd3	UTSW	9	27088549	missense	probably benign	0.01
R2238:Ncapd3	UTSW	9	27067024	missense	probably benign
R2258:Ncapd3	UTSW	9	27056072	missense	probably benign	0.16
R2259:Ncapd3	UTSW	9	27056072	missense	probably benign	0.16
R2260:Ncapd3	UTSW	9	27056072	missense	probably benign	0.16
R2297:Ncapd3	UTSW	9	27041501	nonsense	probably null
R2877:Ncapd3	UTSW	9	27044487	splice site	probably null
R3612:Ncapd3	UTSW	9	27050357	missense	probably damaging	1.00
R3709:Ncapd3	UTSW	9	27052349	missense	probably benign	0.00
R3791:Ncapd3	UTSW	9	27052635	missense	probably benign	0.27
R4052:Ncapd3	UTSW	9	27089383	splice site	probably null
R4297:Ncapd3	UTSW	9	27052327	missense	probably benign
R4299:Ncapd3	UTSW	9	27052327	missense	probably benign
R4441:Ncapd3	UTSW	9	27051645	missense	possibly damaging	0.81
R4572:Ncapd3	UTSW	9	27094615	missense	probably damaging	1.00
R4675:Ncapd3	UTSW	9	27094742	unclassified	probably benign
R4790:Ncapd3	UTSW	9	27051850	missense	probably benign	0.00
R4835:Ncapd3	UTSW	9	27086046	missense	probably damaging	1.00
R4919:Ncapd3	UTSW	9	27051775	missense	possibly damaging	0.95
R4939:Ncapd3	UTSW	9	27063869	critical splice donor site	probably null
R4980:Ncapd3	UTSW	9	27063295	missense	probably damaging	0.99
R5030:Ncapd3	UTSW	9	27071766	missense	probably damaging	0.98
R5052:Ncapd3	UTSW	9	27051719	missense	probably damaging	1.00
R5180:Ncapd3	UTSW	9	27051645	missense	possibly damaging	0.81
R5343:Ncapd3	UTSW	9	27088053	small deletion	probably benign
R5656:Ncapd3	UTSW	9	27051645	missense	possibly damaging	0.81
R5840:Ncapd3	UTSW	9	27094758	missense	probably benign	0.00
R5900:Ncapd3	UTSW	9	27066969	missense	probably benign	0.26
R6093:Ncapd3	UTSW	9	27056158	missense	probably damaging	0.99
R6122:Ncapd3	UTSW	9	27063982	missense	probably benign	0.00
R6249:Ncapd3	UTSW	9	27088053	small deletion	probably benign
R6428:Ncapd3	UTSW	9	27052664	splice site	probably null
R6432:Ncapd3	UTSW	9	27044509	missense	probably damaging	0.98
R6441:Ncapd3	UTSW	9	27063416	missense	probably benign	0.03
R6459:Ncapd3	UTSW	9	27051755	missense	probably benign	0.00
R6567:Ncapd3	UTSW	9	27067004	missense	possibly damaging	0.83
R6722:Ncapd3	UTSW	9	27087556	missense	probably benign
R6862:Ncapd3	UTSW	9	27030809	missense	probably damaging	0.98
R7234:Ncapd3	UTSW	9	27050359	missense	probably damaging	0.97
R7286:Ncapd3	UTSW	9	27069958	missense	probably damaging	1.00
R7404:Ncapd3	UTSW	9	27067019	missense	probably benign	0.01
R7541:Ncapd3	UTSW	9	27067040	missense	probably damaging	0.99
R7583:Ncapd3	UTSW	9	27071848	missense	probably damaging	1.00
R7655:Ncapd3	UTSW	9	27055505	missense	possibly damaging	0.47
R7656:Ncapd3	UTSW	9	27055505	missense	possibly damaging	0.47
R7815:Ncapd3	UTSW	9	27063440	nonsense	probably null
R7876:Ncapd3	UTSW	9	27045223	critical splice donor site	probably null
R7913:Ncapd3	UTSW	9	27048226	nonsense	probably null
R8068:Ncapd3	UTSW	9	27063361	missense	possibly damaging	0.66
R8147:Ncapd3	UTSW	9	27030718	start gained	probably benign
R8197:Ncapd3	UTSW	9	27086033	missense	probably damaging	0.98
R8264:Ncapd3	UTSW	9	27094742	unclassified	probably benign
R8353:Ncapd3	UTSW	9	27071804	missense	probably benign	0.03
R8539:Ncapd3	UTSW	9	27048224	missense	probably benign
R8839:Ncapd3	UTSW	9	27094434	missense
R8917:Ncapd3	UTSW	9	27088001	missense	probably benign
R8997:Ncapd3	UTSW	9	27048281	missense	probably damaging	1.00
R9215:Ncapd3	UTSW	9	27064090	missense	possibly damaging	0.51
R9393:Ncapd3	UTSW	9	27051386	missense	possibly damaging	0.54
R9412:Ncapd3	UTSW	9	27056155	nonsense	probably null
R9688:Ncapd3	UTSW	9	27056053	missense	probably benign	0.01
R9746:Ncapd3	UTSW	9	27063359	missense	probably benign
R9749:Ncapd3	UTSW	9	27045577	missense	probably benign	0.14

Predicted Primers

PCR Primer
(F):5'- CCATTTTGTGGGTAAGTAGGTAAC -3'
(R):5'- TGCTTTCGGATGAACGGGTC -3'

Sequencing Primer
(F):5'- ACTATGAAAAGAGTGACTTTAAGTGG -3'
(R):5'- ATGAACGGGTCTGAATCCTTC -3'

Posted On

2016-04-15