Mutagenetix > Incidental Mutation

Incidental Mutation 'R8068:Ncapd3'

620112

Institutional Source

Beutler Lab

Gene Symbol

Ncapd3

Ensembl Gene

ENSMUSG00000035024

Gene Name

non-SMC condensin II complex, subunit D3

Synonyms

4632407J06Rik, 2810487N22Rik, B130055D15Rik

MMRRC Submission

067503-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.962) question?

Stock #

R8068 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

26941471-27006611 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 26974657 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 710 (S710P)

Ref Sequence

ENSEMBL: ENSMUSP00000083374 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000073127
AA Change: S710P

PolyPhen 2 Score 0.017 (Sensitivity: 0.95; Specificity: 0.80)

SMART Domains

Protein: ENSMUSP00000072871
Gene: ENSMUSG00000035024
AA Change: S710P

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

possibly damaging
Transcript: ENSMUST00000086198
AA Change: S710P

PolyPhen 2 Score 0.656 (Sensitivity: 0.87; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000083374
Gene: ENSMUSG00000035024
AA Change: S710P

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: S710P

PolyPhen 2 Score 0.017 (Sensitivity: 0.95; Specificity: 0.80)

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 98.9%

Validation Efficiency

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: 54 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam39	T	A	8: 41,278,975 (GRCm39)	D455E	not run	Het
Aldoc	T	C	11: 78,215,553 (GRCm39)	F79S	possibly damaging	Het
Atmin	A	G	8: 117,683,389 (GRCm39)	S350G	probably benign	Het
Bms1	A	G	6: 118,390,711 (GRCm39)	F206S	probably damaging	Het
Carmil1	T	A	13: 24,259,711 (GRCm39)	I698L	probably benign	Het
Cd47	T	A	16: 49,715,779 (GRCm39)	S182T		Het
Ces2e	G	T	8: 105,659,629 (GRCm39)		probably null	Het
Cfap251	A	G	5: 123,394,229 (GRCm39)	S373G	not run	Het
Cit	C	A	5: 116,090,525 (GRCm39)	H906Q	probably damaging	Het
Cit	T	C	5: 116,120,294 (GRCm39)	S1370P	probably benign	Het
Dchs2	T	C	3: 83,207,745 (GRCm39)	F1739L	probably benign	Het
Dlx4	T	C	11: 95,036,156 (GRCm39)	Y51C	possibly damaging	Het
Drosha	T	A	15: 12,883,276 (GRCm39)	Y796*	probably null	Het
Elf1	T	A	14: 79,773,830 (GRCm39)	F14I	probably benign	Het
Fam135b	T	C	15: 71,404,827 (GRCm39)	Q73R	probably damaging	Het
Gatad1	T	C	5: 3,693,540 (GRCm39)	R210G	probably benign	Het
Gls2	C	G	10: 128,030,983 (GRCm39)	R81G	unknown	Het
Hnrnpll	T	C	17: 80,358,281 (GRCm39)	M157V	possibly damaging	Het
Itgb3	T	A	11: 104,556,337 (GRCm39)	M726K	probably benign	Het
Kcna10	T	G	3: 107,101,726 (GRCm39)	M119R	possibly damaging	Het
Kcnh1	A	G	1: 191,924,250 (GRCm39)	T155A	probably benign	Het
Kctd9	T	A	14: 67,962,111 (GRCm39)	D51E	unknown	Het
Lgr6	T	C	1: 134,991,402 (GRCm39)	I129V	probably benign	Het
Lrrfip1	A	T	1: 91,055,824 (GRCm39)	D598V	probably damaging	Het
Ltbp4	G	T	7: 27,023,593 (GRCm39)	Q850K	probably damaging	Het
Mdm1	A	G	10: 117,982,709 (GRCm39)	R115G	possibly damaging	Het
Mns1	A	C	9: 72,355,809 (GRCm39)		probably null	Het
Mthfs	G	A	9: 89,093,288 (GRCm39)	R14Q	probably damaging	Het
Muc2	T	A	7: 141,298,422 (GRCm39)	S25T		Het
Nrip1	T	A	16: 76,089,841 (GRCm39)	H572L	possibly damaging	Het
Nrp2	C	T	1: 62,784,567 (GRCm39)	R239C	probably damaging	Het
Opa3	A	G	7: 18,978,910 (GRCm39)	E125G	probably damaging	Het
Or52p1	T	A	7: 104,267,460 (GRCm39)	C191*	probably null	Het
Or5ap2	A	G	2: 85,680,150 (GRCm39)	E118G	probably damaging	Het
Or5w19	A	G	2: 87,698,995 (GRCm39)	Y220C	probably benign	Het
P3h1	A	G	4: 119,094,059 (GRCm39)	Y238C	probably damaging	Het
Pappa2	T	C	1: 158,763,555 (GRCm39)	D652G	possibly damaging	Het
Pcdha11	T	A	18: 37,138,618 (GRCm39)	N82K	probably damaging	Het
Pde4b	T	C	4: 102,453,212 (GRCm39)	I293T	probably damaging	Het
Prrc2c	TTGCTGCTGCTGCTGCTGCTGCTGCTGC	TTGCTGCTGCTGCTGCTGCTGCTGC	1: 162,536,630 (GRCm39)		probably benign	Het
Qki	T	C	17: 10,537,732 (GRCm39)	D24G	possibly damaging	Het
Rbpjl	A	G	2: 164,250,438 (GRCm39)	K197E	possibly damaging	Het
Rnf111	A	T	9: 70,365,223 (GRCm39)	S415T	probably benign	Het
Scyl1	A	G	19: 5,810,853 (GRCm39)	V488A	probably damaging	Het
Slc1a6	G	C	10: 78,648,706 (GRCm39)	V476L	possibly damaging	Het
Slc22a17	A	T	14: 55,146,365 (GRCm39)	F84I	probably benign	Het
Slc22a4	A	C	11: 53,888,269 (GRCm39)	I253S	possibly damaging	Het
Speer2	T	C	16: 69,657,412 (GRCm39)	H77R	possibly damaging	Het
Speg	T	C	1: 75,398,894 (GRCm39)	S2114P	probably damaging	Het
Synpo2	T	A	3: 122,911,041 (GRCm39)	R201S	possibly damaging	Het
Ttpa	C	A	4: 20,028,419 (GRCm39)	H225Q	probably damaging	Het
Vmn1r45	A	T	6: 89,910,261 (GRCm39)	H236Q	possibly damaging	Het
Vmn2r7	A	T	3: 64,623,507 (GRCm39)	V271D	probably benign	Het
Zfp53	A	T	17: 21,729,274 (GRCm39)	T436S	probably benign	Het

Other mutations in Ncapd3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00339:Ncapd3	APN	9	26,963,649 (GRCm39)	missense	probably benign
IGL00544:Ncapd3	APN	9	26,974,634 (GRCm39)	missense	possibly damaging	0.94
IGL01657:Ncapd3	APN	9	26,983,120 (GRCm39)	missense	possibly damaging	0.81
IGL01979:Ncapd3	APN	9	26,983,261 (GRCm39)	critical splice donor site	probably null
IGL02073:Ncapd3	APN	9	26,974,612 (GRCm39)	missense	probably benign	0.03
IGL02083:Ncapd3	APN	9	26,963,117 (GRCm39)	missense	probably damaging	1.00
IGL02383:Ncapd3	APN	9	26,961,624 (GRCm39)	missense	probably benign	0.44
IGL02429:Ncapd3	APN	9	27,000,598 (GRCm39)	missense	probably benign	0.08
IGL02437:Ncapd3	APN	9	26,975,264 (GRCm39)	splice site	probably benign
IGL02861:Ncapd3	APN	9	26,981,195 (GRCm39)	missense	probably benign	0.00
IGL03202:Ncapd3	APN	9	26,983,011 (GRCm39)	splice site	probably benign
IGL03219:Ncapd3	APN	9	26,975,169 (GRCm39)	splice site	probably benign
IGL03252:Ncapd3	APN	9	26,962,745 (GRCm39)	missense	probably damaging	1.00
pevensie	UTSW	9	26,997,342 (GRCm39)	missense	probably damaging	1.00
R0015:Ncapd3	UTSW	9	26,963,105 (GRCm39)	missense	probably damaging	1.00
R0015:Ncapd3	UTSW	9	26,963,105 (GRCm39)	missense	probably damaging	1.00
R0084:Ncapd3	UTSW	9	26,967,407 (GRCm39)	missense	probably damaging	0.98
R0491:Ncapd3	UTSW	9	26,969,179 (GRCm39)	missense	probably damaging	0.97
R0513:Ncapd3	UTSW	9	26,975,401 (GRCm39)	splice site	probably benign
R0565:Ncapd3	UTSW	9	26,999,294 (GRCm39)	missense	probably benign	0.00
R0601:Ncapd3	UTSW	9	26,952,803 (GRCm39)	missense	probably benign	0.05
R0671:Ncapd3	UTSW	9	26,998,773 (GRCm39)	missense	probably benign	0.00
R0673:Ncapd3	UTSW	9	26,998,773 (GRCm39)	missense	probably benign	0.00
R0842:Ncapd3	UTSW	9	26,948,380 (GRCm39)	missense	probably benign	0.01
R1178:Ncapd3	UTSW	9	26,952,717 (GRCm39)	missense	probably benign
R1366:Ncapd3	UTSW	9	26,969,236 (GRCm39)	missense	probably damaging	1.00
R1432:Ncapd3	UTSW	9	26,981,168 (GRCm39)	splice site	probably benign
R1439:Ncapd3	UTSW	9	26,998,862 (GRCm39)	critical splice donor site	probably null
R1532:Ncapd3	UTSW	9	26,994,656 (GRCm39)	nonsense	probably null
R2131:Ncapd3	UTSW	9	26,994,642 (GRCm39)	missense	probably damaging	0.98
R2178:Ncapd3	UTSW	9	26,999,845 (GRCm39)	missense	probably benign	0.01
R2238:Ncapd3	UTSW	9	26,978,320 (GRCm39)	missense	probably benign
R2258:Ncapd3	UTSW	9	26,967,368 (GRCm39)	missense	probably benign	0.16
R2259:Ncapd3	UTSW	9	26,967,368 (GRCm39)	missense	probably benign	0.16
R2260:Ncapd3	UTSW	9	26,967,368 (GRCm39)	missense	probably benign	0.16
R2297:Ncapd3	UTSW	9	26,952,797 (GRCm39)	nonsense	probably null
R2877:Ncapd3	UTSW	9	26,955,783 (GRCm39)	splice site	probably null
R3612:Ncapd3	UTSW	9	26,961,653 (GRCm39)	missense	probably damaging	1.00
R3709:Ncapd3	UTSW	9	26,963,645 (GRCm39)	missense	probably benign	0.00
R3791:Ncapd3	UTSW	9	26,963,931 (GRCm39)	missense	probably benign	0.27
R4052:Ncapd3	UTSW	9	27,000,679 (GRCm39)	splice site	probably null
R4297:Ncapd3	UTSW	9	26,963,623 (GRCm39)	missense	probably benign
R4299:Ncapd3	UTSW	9	26,963,623 (GRCm39)	missense	probably benign
R4441:Ncapd3	UTSW	9	26,962,941 (GRCm39)	missense	possibly damaging	0.81
R4572:Ncapd3	UTSW	9	27,005,911 (GRCm39)	missense	probably damaging	1.00
R4675:Ncapd3	UTSW	9	27,006,038 (GRCm39)	unclassified	probably benign
R4790:Ncapd3	UTSW	9	26,963,146 (GRCm39)	missense	probably benign	0.00
R4835:Ncapd3	UTSW	9	26,997,342 (GRCm39)	missense	probably damaging	1.00
R4919:Ncapd3	UTSW	9	26,963,071 (GRCm39)	missense	possibly damaging	0.95
R4928:Ncapd3	UTSW	9	26,983,031 (GRCm39)	nonsense	probably null
R4939:Ncapd3	UTSW	9	26,975,165 (GRCm39)	critical splice donor site	probably null
R4980:Ncapd3	UTSW	9	26,974,591 (GRCm39)	missense	probably damaging	0.99
R5030:Ncapd3	UTSW	9	26,983,062 (GRCm39)	missense	probably damaging	0.98
R5052:Ncapd3	UTSW	9	26,963,015 (GRCm39)	missense	probably damaging	1.00
R5180:Ncapd3	UTSW	9	26,962,941 (GRCm39)	missense	possibly damaging	0.81
R5343:Ncapd3	UTSW	9	26,999,349 (GRCm39)	small deletion	probably benign
R5656:Ncapd3	UTSW	9	26,962,941 (GRCm39)	missense	possibly damaging	0.81
R5840:Ncapd3	UTSW	9	27,006,054 (GRCm39)	missense	probably benign	0.00
R5900:Ncapd3	UTSW	9	26,978,265 (GRCm39)	missense	probably benign	0.26
R6093:Ncapd3	UTSW	9	26,967,454 (GRCm39)	missense	probably damaging	0.99
R6122:Ncapd3	UTSW	9	26,975,278 (GRCm39)	missense	probably benign	0.00
R6249:Ncapd3	UTSW	9	26,999,349 (GRCm39)	small deletion	probably benign
R6428:Ncapd3	UTSW	9	26,963,960 (GRCm39)	splice site	probably null
R6432:Ncapd3	UTSW	9	26,955,805 (GRCm39)	missense	probably damaging	0.98
R6441:Ncapd3	UTSW	9	26,974,712 (GRCm39)	missense	probably benign	0.03
R6459:Ncapd3	UTSW	9	26,963,051 (GRCm39)	missense	probably benign	0.00
R6567:Ncapd3	UTSW	9	26,978,300 (GRCm39)	missense	possibly damaging	0.83
R6722:Ncapd3	UTSW	9	26,998,852 (GRCm39)	missense	probably benign
R6862:Ncapd3	UTSW	9	26,942,105 (GRCm39)	missense	probably damaging	0.98
R7234:Ncapd3	UTSW	9	26,961,655 (GRCm39)	missense	probably damaging	0.97
R7286:Ncapd3	UTSW	9	26,981,254 (GRCm39)	missense	probably damaging	1.00
R7404:Ncapd3	UTSW	9	26,978,315 (GRCm39)	missense	probably benign	0.01
R7541:Ncapd3	UTSW	9	26,978,336 (GRCm39)	missense	probably damaging	0.99
R7583:Ncapd3	UTSW	9	26,983,144 (GRCm39)	missense	probably damaging	1.00
R7655:Ncapd3	UTSW	9	26,966,801 (GRCm39)	missense	possibly damaging	0.47
R7656:Ncapd3	UTSW	9	26,966,801 (GRCm39)	missense	possibly damaging	0.47
R7815:Ncapd3	UTSW	9	26,974,736 (GRCm39)	nonsense	probably null
R7876:Ncapd3	UTSW	9	26,956,519 (GRCm39)	critical splice donor site	probably null
R7913:Ncapd3	UTSW	9	26,959,522 (GRCm39)	nonsense	probably null
R8147:Ncapd3	UTSW	9	26,942,014 (GRCm39)	start gained	probably benign
R8197:Ncapd3	UTSW	9	26,997,329 (GRCm39)	missense	probably damaging	0.98
R8264:Ncapd3	UTSW	9	27,006,038 (GRCm39)	unclassified	probably benign
R8353:Ncapd3	UTSW	9	26,983,100 (GRCm39)	missense	probably benign	0.03
R8539:Ncapd3	UTSW	9	26,959,520 (GRCm39)	missense	probably benign
R8839:Ncapd3	UTSW	9	27,005,730 (GRCm39)	missense
R8917:Ncapd3	UTSW	9	26,999,297 (GRCm39)	missense	probably benign
R8997:Ncapd3	UTSW	9	26,959,577 (GRCm39)	missense	probably damaging	1.00
R9215:Ncapd3	UTSW	9	26,975,386 (GRCm39)	missense	possibly damaging	0.51
R9393:Ncapd3	UTSW	9	26,962,682 (GRCm39)	missense	possibly damaging	0.54
R9412:Ncapd3	UTSW	9	26,967,451 (GRCm39)	nonsense	probably null
R9688:Ncapd3	UTSW	9	26,967,349 (GRCm39)	missense	probably benign	0.01
R9746:Ncapd3	UTSW	9	26,974,655 (GRCm39)	missense	probably benign
R9749:Ncapd3	UTSW	9	26,956,873 (GRCm39)	missense	probably benign	0.14

Predicted Primers

PCR Primer
(F):5'- CCTGAAGATGCAGAAGTTGATACC -3'
(R):5'- AGGTAAACTGCTTAAATGGGCC -3'

Sequencing Primer
(F):5'- CAGAAGTTGATACCCTTTCAGTGAGG -3'
(R):5'- CTGCTTAAATGGGCCAGAATC -3'

Posted On

2020-01-23