Mutagenetix > Incidental Mutation

Incidental Mutation 'R6432:Ncapd3'

518592

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

044570-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.963) question?

Stock #

R6432 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

26941471-27006611 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 26955805 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Lysine at position 131 (N131K)

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 damaging
Transcript: ENSMUST00000073127
AA Change: N131K

PolyPhen 2 Score 0.979 (Sensitivity: 0.75; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000072871
Gene: ENSMUSG00000035024
AA Change: N131K

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: N131K

PolyPhen 2 Score 0.978 (Sensitivity: 0.76; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000083374
Gene: ENSMUSG00000035024
AA Change: N131K

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 damaging
Transcript: ENSMUST00000216677
AA Change: N131K

PolyPhen 2 Score 0.979 (Sensitivity: 0.75; Specificity: 0.96)

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000217311

Meta Mutation Damage Score

0.1934

Coding Region Coverage

1x: 99.9%
3x: 99.5%
10x: 97.6%
20x: 92.3%

Validation Efficiency

100% (42/42)

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: 41 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adora3	T	A	3: 105,814,991 (GRCm39)	L101*	probably null	Het
Atf7ip2	T	C	16: 10,022,534 (GRCm39)	I71T	probably damaging	Het
Atp2c1	A	G	9: 105,322,512 (GRCm39)	C206R	probably damaging	Het
Cacna1d	A	G	14: 29,845,411 (GRCm39)	L606P	probably damaging	Het
Cass4	T	C	2: 172,269,639 (GRCm39)	F574L	probably damaging	Het
Cdcp3	G	A	7: 130,846,601 (GRCm39)		probably null	Het
Col17a1	C	A	19: 47,668,847 (GRCm39)	E126*	probably null	Het
Cxadr	A	C	16: 78,122,147 (GRCm39)	D49A	probably damaging	Het
Dact1	T	C	12: 71,365,327 (GRCm39)	S703P	probably damaging	Het
Dchs2	T	A	3: 83,178,425 (GRCm39)	H1159Q	possibly damaging	Het
Dnmt3a	T	A	12: 3,952,399 (GRCm39)	F697I	probably damaging	Het
Dnpep	T	A	1: 75,292,022 (GRCm39)	K199N	probably benign	Het
Ear2	G	T	14: 44,340,660 (GRCm39)	C106F	probably damaging	Het
Gnl2	A	T	4: 124,946,353 (GRCm39)	I525F	possibly damaging	Het
Hsph1	C	A	5: 149,542,441 (GRCm39)	K692N	probably damaging	Het
Itga6	T	A	2: 71,664,116 (GRCm39)	C489S	possibly damaging	Het
Kdm2b	C	T	5: 123,018,254 (GRCm39)	C1007Y	probably damaging	Het
Ly6m	T	C	15: 74,751,813 (GRCm39)	T74A	probably benign	Het
Mast4	T	C	13: 103,042,185 (GRCm39)	S22G	possibly damaging	Het
Ms4a12	A	G	19: 11,192,376 (GRCm39)	*264Q	probably null	Het
Myh8	G	T	11: 67,189,405 (GRCm39)	A1194S	probably benign	Het
Or10g6	T	C	9: 39,933,824 (GRCm39)	I45T	probably damaging	Het
Or5w13	A	T	2: 87,523,872 (GRCm39)	M118K	probably damaging	Het
Rbm14	G	T	19: 4,853,191 (GRCm39)		probably benign	Het
Rnf130	T	A	11: 49,986,617 (GRCm39)	C320*	probably null	Het
Rnf5	A	G	17: 34,821,101 (GRCm39)	V77A	possibly damaging	Het
Sh3pxd2a	G	T	19: 47,258,366 (GRCm39)	P418T	probably damaging	Het
Shank3	G	T	15: 89,387,616 (GRCm39)	V262F	possibly damaging	Het
Six5	T	A	7: 18,830,696 (GRCm39)	V441E	probably damaging	Het
Tbc1d9b	T	A	11: 50,037,155 (GRCm39)	I268N	probably benign	Het
Terb1	G	A	8: 105,212,078 (GRCm39)	T301I	possibly damaging	Het
Tnxb	A	C	17: 34,936,891 (GRCm39)	D2820A	probably damaging	Het
Tram2	C	T	1: 21,074,457 (GRCm39)	E242K	possibly damaging	Het
Trps1	T	C	15: 50,694,793 (GRCm39)	K210E	probably damaging	Het
Tulp2	T	A	7: 45,168,012 (GRCm39)	D141E	probably benign	Het
Umodl1	C	T	17: 31,205,121 (GRCm39)	T572I	probably benign	Het
Upf2	C	A	2: 5,984,588 (GRCm39)	A501E	unknown	Het
Vmn2r102	A	G	17: 19,901,483 (GRCm39)	T537A	possibly damaging	Het
Wdr11	T	A	7: 129,208,242 (GRCm39)	D332E	possibly damaging	Het
Wdr38	A	G	2: 38,890,723 (GRCm39)	N199S	probably damaging	Het
Zfp672	T	A	11: 58,207,758 (GRCm39)	I188F	possibly damaging	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
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
R8068:Ncapd3	UTSW	9	26,974,657 (GRCm39)	missense	possibly damaging	0.66
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'- TCTTCACTGAAGGCTCACGG -3'
(R):5'- ACCTGATAATCCTCTTTTCTAGGTGG -3'

Sequencing Primer
(F):5'- TAGAGATCCCATGTCTGCCTGAG -3'
(R):5'- ATAATCCTCTTTTCTAGGTGGTTTTC -3'

Posted On

2018-05-24