Mutagenetix > Incidental Mutation

Incidental Mutation 'R6122:Ncapd3'

485777

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

044269-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.963) question?

Stock #

R6122 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

26941471-27006611 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 26975278 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Valine at position 776 (I776V)

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: I776V

PolyPhen 2 Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)

SMART Domains

Protein: ENSMUSP00000072871
Gene: ENSMUSG00000035024
AA Change: I776V

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
AA Change: I776V

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000083374
Gene: ENSMUSG00000035024
AA Change: I776V

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: I776V

PolyPhen 2 Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 98.1%
20x: 94.8%

Validation Efficiency

98% (57/58)

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: 57 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700034J05Rik	T	C	6: 146,853,750 (GRCm39)	*301W	probably null	Het
Abat	A	G	16: 8,423,414 (GRCm39)	I236V	probably benign	Het
Abca8a	T	C	11: 109,961,249 (GRCm39)	T558A	probably benign	Het
Ace3	A	C	11: 105,885,764 (GRCm39)	M57L	probably benign	Het
Adgrg1	T	C	8: 95,729,129 (GRCm39)	S18P	probably benign	Het
Ahi1	A	G	10: 20,934,064 (GRCm39)	D60G	probably benign	Het
Ap4e1	T	A	2: 126,870,080 (GRCm39)		probably null	Het
Arnt2	C	A	7: 84,010,773 (GRCm39)	K34N	probably damaging	Het
Ascc3	T	A	10: 50,494,021 (GRCm39)	M152K	probably benign	Het
AW551984	A	T	9: 39,505,051 (GRCm39)	F480L	probably benign	Het
Blvrb	G	A	7: 27,158,773 (GRCm39)	A58T	possibly damaging	Het
Bpifa1	C	T	2: 153,985,892 (GRCm39)	T69I	probably benign	Het
Cacna1g	T	A	11: 94,320,997 (GRCm39)	M1366L	probably benign	Het
Ccdc82	A	G	9: 13,266,880 (GRCm39)	I361V	probably benign	Het
Clca4b	T	A	3: 144,631,927 (GRCm39)	I193F	possibly damaging	Het
Crb1	A	T	1: 139,176,686 (GRCm39)	Y371*	probably null	Het
Cul9	T	C	17: 46,832,854 (GRCm39)	D1363G	possibly damaging	Het
Cyp2j8	C	T	4: 96,332,877 (GRCm39)	A490T	probably benign	Het
D430041D05Rik	A	T	2: 104,086,637 (GRCm39)	S780T	probably benign	Het
Fzd5	G	T	1: 64,774,815 (GRCm39)	C315*	probably null	Het
Gabrr1	T	C	4: 33,161,695 (GRCm39)	S340P	probably damaging	Het
Galnt7	T	C	8: 57,979,200 (GRCm39)	D641G	probably damaging	Het
Gm7133	A	G	1: 97,110,948 (GRCm39)		noncoding transcript	Het
Heatr5b	A	G	17: 79,120,602 (GRCm39)	L774P	possibly damaging	Het
Itch	T	A	2: 155,015,985 (GRCm39)	S157T	probably benign	Het
Itgam	A	C	7: 127,684,824 (GRCm39)	D398A	probably damaging	Het
Kalrn	G	T	16: 33,805,561 (GRCm39)	L2659M	possibly damaging	Het
Kcnj14	C	A	7: 45,468,875 (GRCm39)	R210L	possibly damaging	Het
Kmt2d	T	C	15: 98,758,573 (GRCm39)		probably benign	Het
Krt1c	G	C	15: 101,724,349 (GRCm39)	T305S	probably damaging	Het
Mcm3ap	A	G	10: 76,342,441 (GRCm39)	N1645D	probably damaging	Het
Naf1	T	A	8: 67,336,096 (GRCm39)	I341K	probably damaging	Het
Nbea	G	T	3: 55,937,317 (GRCm39)	H765N	probably damaging	Het
Neo1	A	T	9: 58,824,291 (GRCm39)	D712E	probably benign	Het
Neu1	G	A	17: 35,153,730 (GRCm39)	V385I	probably benign	Het
Or14j3	C	A	17: 37,900,817 (GRCm39)	R142S	probably benign	Het
Or51a6	C	A	7: 102,604,011 (GRCm39)	G273C	probably damaging	Het
Or51a6	A	G	7: 102,604,737 (GRCm39)	Y24H	probably benign	Het
Pgghg	A	C	7: 140,523,308 (GRCm39)	T196P	possibly damaging	Het
Pira2	A	T	7: 3,845,445 (GRCm39)	V313E	probably damaging	Het
Pkd1l2	T	C	8: 117,809,107 (GRCm39)	R28G	probably benign	Het
Pkhd1l1	T	C	15: 44,421,336 (GRCm39)	S3035P	probably damaging	Het
Ppp1r9a	T	A	6: 4,905,509 (GRCm39)	N21K	probably damaging	Het
Prune1	T	C	3: 95,169,554 (GRCm39)	D216G	probably benign	Het
Ptpn23	G	T	9: 110,216,893 (GRCm39)		probably benign	Het
Ranbp2	T	A	10: 58,301,351 (GRCm39)	M668K	probably benign	Het
Rnd2	C	T	11: 101,359,825 (GRCm39)	L57F	probably damaging	Het
Rpsa	G	T	9: 119,960,102 (GRCm39)	V222L	probably benign	Het
Septin2	A	G	1: 93,425,098 (GRCm39)	T45A	probably damaging	Het
Slc12a8	A	T	16: 33,445,384 (GRCm39)	D260V	probably damaging	Het
Srrm2	G	T	17: 24,039,330 (GRCm39)	M2087I	possibly damaging	Het
Tg	T	C	15: 66,700,306 (GRCm39)	L88P	probably damaging	Het
Tns1	A	G	1: 73,991,578 (GRCm39)		probably null	Het
Topbp1	A	T	9: 103,224,160 (GRCm39)	D1429V	probably benign	Het
Tprg1	A	G	16: 25,241,151 (GRCm39)		probably null	Het
Trit1	T	C	4: 122,933,261 (GRCm39)	I66T	possibly damaging	Het
Usf3	A	T	16: 44,037,670 (GRCm39)	I717L	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
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
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'- GCAGAGTGCTTGATAATATGGCAC -3'
(R):5'- CGTCAAATGGGAGTAGCACG -3'

Sequencing Primer
(F):5'- ACACCTTAGGCTATATGCTGTG -3'
(R):5'- TAGCACGTTTGAGAAGAAGCTG -3'

Posted On

2017-08-16