Mutagenetix > Incidental Mutation

Incidental Mutation 'R9412:Ncapd3'

711856

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

Accession Numbers

Essential gene?

Probably essential (E-score: 0.962) question?

Stock #

R9412 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

26941471-27006611 bp(+) (GRCm39)

Type of Mutation

nonsense

DNA Base Change (assembly)

C to T at 26967451 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamine to Stop codon at position 596 (Q596*)

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 null
Transcript: ENSMUST00000073127
AA Change: Q596*

SMART Domains

Protein: ENSMUSP00000072871
Gene: ENSMUSG00000035024
AA Change: Q596*

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: Q596*

SMART Domains

Protein: ENSMUSP00000083374
Gene: ENSMUSG00000035024
AA Change: Q596*

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 null
Transcript: ENSMUST00000216677
AA Change: Q596*

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 98.8%

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: 46 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700029H14Rik	T	A	8: 13,604,695 (GRCm39)	T203S	possibly damaging	Het
2700049A03Rik	G	A	12: 71,235,457 (GRCm39)	E1136K	possibly damaging	Het
Abca6	C	A	11: 110,103,059 (GRCm39)	R844L	probably damaging	Het
Abcb9	C	T	5: 124,221,753 (GRCm39)	R207Q	probably benign	Het
Abcd4	T	C	12: 84,655,581 (GRCm39)	R343G	probably damaging	Het
Arhgap45	T	A	10: 79,855,564 (GRCm39)	M1K	probably null	Het
Art3	A	G	5: 92,541,013 (GRCm39)	Y252C	probably damaging	Het
Ascc3	T	C	10: 50,525,230 (GRCm39)	M475T	probably benign	Het
Atxn2	C	T	5: 121,940,201 (GRCm39)	P992L	possibly damaging	Het
Dclk3	G	A	9: 111,311,819 (GRCm39)		probably null	Het
Ddx21	T	C	10: 62,429,881 (GRCm39)	T288A	possibly damaging	Het
Fat3	T	C	9: 15,908,703 (GRCm39)	D2433G	probably damaging	Het
Flnc	G	A	6: 29,441,484 (GRCm39)	R422Q	probably benign	Het
Fmnl2	G	T	2: 53,007,016 (GRCm39)	R776L	unknown	Het
Fndc1	T	A	17: 7,991,198 (GRCm39)	T833S	unknown	Het
Igf1r	T	A	7: 67,857,001 (GRCm39)	Y988N	probably damaging	Het
Ints2	T	C	11: 86,117,589 (GRCm39)	Y711C	probably damaging	Het
Irx5	A	G	8: 93,086,351 (GRCm39)	K145E	probably damaging	Het
Kdm5a	A	G	6: 120,365,991 (GRCm39)	Y377C	probably damaging	Het
Lrp1	T	A	10: 127,409,287 (GRCm39)	T1611S	probably damaging	Het
Lrrc28	T	A	7: 67,181,512 (GRCm39)	E241V	probably damaging	Het
Med23	T	C	10: 24,778,019 (GRCm39)	F789S	probably damaging	Het
Nrde2	C	A	12: 100,096,681 (GRCm39)	E1040*	probably null	Het
Or2n1d	A	T	17: 38,646,320 (GRCm39)	T91S	possibly damaging	Het
Pcdh15	CAGAGA	CAGA	10: 74,481,663 (GRCm39)		probably null	Het
Pcm1	T	G	8: 41,740,788 (GRCm39)	N972K	probably damaging	Het
Peg10	C	CTCT	6: 4,756,453 (GRCm39)		probably benign	Het
Pla2g4a	T	C	1: 149,755,772 (GRCm39)	T222A	probably damaging	Het
Ptchd3	A	T	11: 121,732,779 (GRCm39)	K556N	possibly damaging	Het
Relch	A	G	1: 105,662,288 (GRCm39)	T936A	probably benign	Het
Scap	T	C	9: 110,207,673 (GRCm39)	C461R	possibly damaging	Het
Scgb1b10	T	A	7: 31,800,627 (GRCm39)	L72*	probably null	Het
Serpinb6c	C	A	13: 34,081,371 (GRCm39)	A93S	probably benign	Het
Serpinb9c	C	A	13: 33,334,231 (GRCm39)	L298F	probably damaging	Het
Slf2	A	T	19: 44,930,460 (GRCm39)	E512D	probably benign	Het
Snapc3	C	T	4: 83,354,570 (GRCm39)	H194Y	probably benign	Het
Suox	T	A	10: 128,507,758 (GRCm39)	D90V	possibly damaging	Het
Supt20	TCAGCAGCAGCAGCAGCAGCAGCA	TCAGCAGCAGCAGCAGCAGCA	3: 54,635,069 (GRCm39)		probably benign	Het
Tert	C	T	13: 73,797,046 (GRCm39)	R1095W	probably benign	Het
Tut4	A	T	4: 108,414,561 (GRCm39)	H46L		Het
Unc13c	T	C	9: 73,839,772 (GRCm39)	I360V	probably benign	Het
Uqcc1	A	G	2: 155,693,329 (GRCm39)	C235R	probably benign	Het
Vmn2r9	T	A	5: 108,991,484 (GRCm39)	I626F	probably damaging	Het
Vmn2r90	T	G	17: 17,954,213 (GRCm39)	C792W	probably damaging	Het
Zfp57	C	T	17: 37,320,814 (GRCm39)	P223S	probably benign	Het
Zfp787	T	C	7: 6,135,946 (GRCm39)	T102A	probably 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
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
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
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'- GGCAACAGGAATTGGAATCTTTG -3'
(R):5'- AGCCTGAAGCCTACTACGAG -3'

Sequencing Primer
(F):5'- ACAGGAATTGGAATCTTTGTCTATG -3'
(R):5'- GAAGCCTACTACGAGTACAGAATTTC -3'

Posted On

2022-05-16