Mutagenetix > Incidental Mutations

Incidental Mutation 'R0084:Ncapd3'

19816

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

038371-MU

Accession Numbers

Is this an essential gene?

Probably essential (E-score: 0.959) question?

Stock #

R0084 (G1)

Quality Score

157

Status

Validated

Chromosome

Chromosomal Location

27030175-27095315 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 27056111 bp

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 581 (D581G)

Ref Sequence

ENSEMBL: ENSMUSP00000083374 (fasta)

Gene Model

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

Predicted Effect

probably benign
Transcript: ENSMUST00000073127
AA Change: D581G

PolyPhen 2 Score 0.064 (Sensitivity: 0.94; Specificity: 0.84)

SMART Domains

Protein: ENSMUSP00000072871
Gene: ENSMUSG00000035024
AA Change: D581G

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 damaging
Transcript: ENSMUST00000086198
AA Change: D581G

PolyPhen 2 Score 0.983 (Sensitivity: 0.75; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000083374
Gene: ENSMUSG00000035024
AA Change: D581G

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

probably benign
Transcript: ENSMUST00000216677
AA Change: D581G

PolyPhen 2 Score 0.064 (Sensitivity: 0.94; Specificity: 0.84)

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000217311

Meta Mutation Damage Score

0.5431

Coding Region Coverage

1x: 99.2%
3x: 98.0%
10x: 94.5%
20x: 86.0%

Validation Efficiency

99% (77/78)

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: 58 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4931417E11Rik	A	T	6: 73,468,935	Y210*	probably null	Het
Abca8a	A	G	11: 110,036,597		probably benign	Het
Abcc9	A	G	6: 142,658,551	Y653H	probably damaging	Het
Acpp	A	T	9: 104,314,365	S241T	probably benign	Het
Acvr1	A	G	2: 58,458,883		probably null	Het
Adgb	T	C	10: 10,396,344	N832S	possibly damaging	Het
AI182371	A	G	2: 35,085,702		probably null	Het
Anapc1	G	A	2: 128,623,966		probably benign	Het
Apba1	T	C	19: 23,912,497	S420P	possibly damaging	Het
Ass1	A	T	2: 31,514,819	N371Y	probably damaging	Het
BC025446	T	A	15: 75,217,775	M44K	probably benign	Het
Bpifb2	A	T	2: 153,891,091	M365L	probably benign	Het
Btnl9	A	T	11: 49,178,779	N224K	possibly damaging	Het
Cntn1	A	T	15: 92,317,917	I944L	probably benign	Het
Cpa3	T	C	3: 20,242,101		probably benign	Het
Dcaf11	C	T	14: 55,569,243	R468C	probably benign	Het
E4f1	T	C	17: 24,444,082	T750A	possibly damaging	Het
Ercc5	A	G	1: 44,175,976	K890E	possibly damaging	Het
Fbrsl1	A	G	5: 110,379,515	L262P	probably damaging	Het
Flnb	A	G	14: 7,935,979	D2273G	probably benign	Het
Gm14085	A	G	2: 122,522,833	Y498C	possibly damaging	Het
Gm9848	A	T	13: 113,108,242		noncoding transcript	Het
Hcrtr1	T	A	4: 130,137,266	H75L	possibly damaging	Het
Heatr9	A	T	11: 83,512,895		probably benign	Het
Htatip2	G	A	7: 49,759,672	G58D	probably damaging	Het
Lmntd1	G	A	6: 145,404,528	H234Y	unknown	Het
Map4k3	T	C	17: 80,655,914	K85E	possibly damaging	Het
Moxd2	T	C	6: 40,879,408	D510G	probably null	Het
Mpv17l2	A	T	8: 70,764,545		probably benign	Het
Nbeal2	A	G	9: 110,643,710		probably null	Het
Ndufb5	T	C	3: 32,737,203	V33A	probably benign	Het
Olfr517	A	T	7: 108,868,800	M118K	probably damaging	Het
Osbpl1a	T	C	18: 12,757,612	T524A	probably benign	Het
Otogl	A	C	10: 107,901,341	S71A	probably damaging	Het
Ovol2	G	T	2: 144,305,888	N180K	probably damaging	Het
Pam	A	G	1: 97,896,049	V219A	probably benign	Het
Paox	C	T	7: 140,132,446	R197*	probably null	Het
Pax2	T	A	19: 44,818,435	Y290N	probably damaging	Het
Pik3ca	T	C	3: 32,462,788	M933T	possibly damaging	Het
Ppfia4	G	T	1: 134,299,426	R1124S	possibly damaging	Het
Prkch	T	C	12: 73,697,987	F258S	possibly damaging	Het
Rhob	G	A	12: 8,499,107	R176C	probably benign	Het
Sbf2	A	T	7: 110,442,366	I326N	possibly damaging	Het
Scgb2b2	A	T	7: 31,303,616	E45D	probably benign	Het
Scube3	T	A	17: 28,162,961	D320E	probably benign	Het
Serpina1f	A	G	12: 103,693,588	V145A	possibly damaging	Het
Slc6a5	A	C	7: 49,930,013	I380L	probably benign	Het
Spag16	A	G	1: 69,996,839	N342S	probably benign	Het
Spata16	A	G	3: 26,667,410	T27A	possibly damaging	Het
Spock3	A	C	8: 63,143,929	K89T	probably damaging	Het
Tbc1d1	T	C	5: 64,324,454	V795A	probably damaging	Het
Tirap	G	T	9: 35,189,162	H75Q	probably benign	Het
Tpk1	C	A	6: 43,346,829	V229L	possibly damaging	Het
Tshz2	A	G	2: 169,884,366	H294R	probably damaging	Het
Ttn	A	T	2: 76,872,699		probably benign	Het
Unc13d	C	T	11: 116,063,831	V984M	probably damaging	Het
Zbtb43	A	T	2: 33,453,984	Y373N	probably damaging	Het
Zfp646	T	A	7: 127,881,304	H884Q	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
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
R4928:Ncapd3	UTSW	9	27071735	nonsense	probably null
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
R7959:Ncapd3	UTSW	9	27045223	critical splice donor site	probably null
R7994:Ncapd3	UTSW	9	27048226	nonsense	probably null
R8068:Ncapd3	UTSW	9	27063361	missense	possibly damaging	0.66

Predicted Primers

PCR Primer
(F):5'- GTTGATCCCTCACCCCAAAACGTAG -3'
(R):5'- GCACAACACTGTCTCCCTAAGTTCC -3'

Sequencing Primer
(F):5'- TAGGCAACAGGAATTGGAATCTTTG -3'
(R):5'- ttttttttttttttttGAGATGGGGC -3'

Posted On

2013-04-11