Mutagenetix > Incidental Mutation

Incidental Mutation 'R8917:Ncapd3'

679004

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

068704-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.962) question?

Stock #

R8917 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

26941471-27006611 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 26999297 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 1291 (V1291A)

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 benign
Transcript: ENSMUST00000073127
AA Change: V1291A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000072871
Gene: ENSMUSG00000035024
AA Change: V1291A

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 benign
Transcript: ENSMUST00000086198

SMART Domains

Protein: ENSMUSP00000083374
Gene: ENSMUSG00000035024

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: V1291A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

Coding Region Coverage

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

Validation Efficiency

100% (57/57)

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
2610528J11Rik	A	G	4: 118,386,490 (GRCm39)	M1V	probably null	Het
Acss3	T	C	10: 106,773,124 (GRCm39)	S621G	probably benign	Het
Adam1a	C	T	5: 121,657,145 (GRCm39)	R716Q	probably benign	Het
Ankrd26	G	T	6: 118,535,902 (GRCm39)	N177K	probably damaging	Het
Ankrd31	G	A	13: 96,969,212 (GRCm39)	V950I	probably damaging	Het
Ano4	A	G	10: 88,788,160 (GRCm39)	Y922H	probably damaging	Het
Axin2	A	T	11: 108,822,341 (GRCm39)	N298Y	probably damaging	Het
Celsr2	A	T	3: 108,303,882 (GRCm39)	M2392K	probably benign	Het
Coasy	A	G	11: 100,974,202 (GRCm39)	S123G	probably benign	Het
Cracdl	A	G	1: 37,676,993 (GRCm39)	V63A	probably damaging	Het
Ctla2a	A	T	13: 61,083,854 (GRCm39)	M26K	probably benign	Het
Cts8	A	T	13: 61,396,882 (GRCm39)		probably benign	Het
Cyp4a30b	C	A	4: 115,311,662 (GRCm39)	S110*	probably null	Het
Eif2ak4	A	G	2: 118,287,617 (GRCm39)	Y1195C	probably damaging	Het
Erh	G	T	12: 80,684,282 (GRCm39)	A65E	probably benign	Het
Exoc6	A	G	19: 37,578,360 (GRCm39)	D401G	probably benign	Het
Fmo1	A	G	1: 162,663,773 (GRCm39)	V252A	probably benign	Het
Furin	T	C	7: 80,048,437 (GRCm39)	K28E	probably benign	Het
Gmip	T	A	8: 70,270,428 (GRCm39)	F713I	probably damaging	Het
Hyal6	T	C	6: 24,734,103 (GRCm39)	L12P	possibly damaging	Het
Ido1	T	C	8: 25,081,523 (GRCm39)	N144D	probably benign	Het
Igsf10	T	A	3: 59,226,888 (GRCm39)	T2262S	possibly damaging	Het
Insrr	T	C	3: 87,718,276 (GRCm39)	F923S	probably benign	Het
Kank1	G	T	19: 25,386,928 (GRCm39)	M200I	probably damaging	Het
Kctd15	A	G	7: 34,341,508 (GRCm39)	Y140H	probably damaging	Het
Kif3c	T	A	12: 3,416,690 (GRCm39)	I237N	probably damaging	Het
Klhl26	T	C	8: 70,905,455 (GRCm39)	S152G	possibly damaging	Het
Lce1k	C	A	3: 92,714,097 (GRCm39)	C29F	unknown	Het
Map1a	A	G	2: 121,131,791 (GRCm39)	E869G	possibly damaging	Het
Mcmbp	T	C	7: 128,300,281 (GRCm39)	E576G	probably benign	Het
Mrps22	A	G	9: 98,476,163 (GRCm39)	V231A	probably benign	Het
Myo1a	C	T	10: 127,551,534 (GRCm39)	L697F	possibly damaging	Het
Nherf4	T	A	9: 44,160,141 (GRCm39)		probably benign	Het
Or9m1	A	T	2: 87,733,307 (GRCm39)	S238T	possibly damaging	Het
Pcdhb6	A	G	18: 37,468,431 (GRCm39)	T451A	possibly damaging	Het
Pi4ka	C	A	16: 17,130,310 (GRCm39)	W1032L		Het
Pkhd1l1	T	A	15: 44,396,403 (GRCm39)	I1975N	probably benign	Het
Pnpla6	T	C	8: 3,567,637 (GRCm39)	M115T	possibly damaging	Het
Poldip2	G	A	11: 78,412,667 (GRCm39)	R347Q	probably damaging	Het
Pramel18	G	A	4: 101,768,935 (GRCm39)	V429M	probably benign	Het
Rapgef6	C	T	11: 54,582,392 (GRCm39)	Q1440*	probably null	Het
Rtn3	A	T	19: 7,434,105 (GRCm39)	I629K	possibly damaging	Het
Selenov	A	G	7: 27,987,728 (GRCm39)	F278L	probably damaging	Het
Skor2	G	A	18: 76,948,504 (GRCm39)	G742D	probably damaging	Het
Spata31d1c	C	T	13: 65,183,429 (GRCm39)	P324S	probably benign	Het
Tbc1d14	A	T	5: 36,676,682 (GRCm39)	I403N	probably damaging	Het
Tekt3	A	T	11: 62,978,052 (GRCm39)	Q374L	probably damaging	Het
Tg	T	C	15: 66,645,332 (GRCm39)		probably null	Het
Thnsl2	T	C	6: 71,116,927 (GRCm39)	D75G	probably benign	Het
Tnr	A	T	1: 159,701,692 (GRCm39)	K598*	probably null	Het
Tshr	T	A	12: 91,468,829 (GRCm39)		probably benign	Het
Uggt1	A	G	1: 36,185,735 (GRCm39)	S1483P		Het
Usp42	T	C	5: 143,701,695 (GRCm39)	E776G		Het
Vmn2r118	T	C	17: 55,917,216 (GRCm39)	E432G	possibly damaging	Het
Vmn2r-ps158	T	C	7: 42,697,433 (GRCm39)	I830T	probably damaging	Het
Zfhx4	A	G	3: 5,464,159 (GRCm39)	E1464G	probably damaging	Het
Zfp518a	A	C	19: 40,901,870 (GRCm39)	K600Q	possibly damaging	Het
Zxdc	A	G	6: 90,359,305 (GRCm39)	T646A	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
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
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'- GGGCATTTCTGAGTATAGCCGTAG -3'
(R):5'- TCCATTTTCGGATATGGGAGGC -3'

Sequencing Primer
(F):5'- GGCTCACCTTCTAGTTGAGGAATC -3'
(R):5'- CAAAGTTGGTGTGAAGTTGGACC -3'

Posted On

2021-08-02