Mutagenetix > Incidental Mutation

Incidental Mutation 'R8839:Ncapd3'

674325

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

068667-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.962) question?

Stock #

R8839 (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 27005730 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 1438 (V1438A)

Ref Sequence

ENSEMBL: ENSMUSP00000150938 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000034472] [ENSMUST00000073127] [ENSMUST00000086198] [ENSMUST00000216677]

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000034472

SMART Domains

Protein: ENSMUSP00000034472
Gene: ENSMUSG00000031990

Domain	Start	End	E-Value	Type
signal peptide	1	31	N/A	INTRINSIC
IG	38	136	2.7e-9	SMART
IGc2	151	226	8.12e-13	SMART
transmembrane domain	245	267	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000073127
AA Change: V1438A

PolyPhen 2 Score 0.976 (Sensitivity: 0.76; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000072871
Gene: ENSMUSG00000035024
AA Change: V1438A

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

Meta Mutation Damage Score

0.3696

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.8%

Validation Efficiency

100% (51/51)

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: 50 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ace3	T	C	11: 105,889,194 (GRCm39)	Y475H	probably damaging	Het
Ankfy1	T	C	11: 72,621,392 (GRCm39)	I226T	probably benign	Het
Anln	G	A	9: 22,267,468 (GRCm39)	S825L	probably benign	Het
Aoc1l2	T	C	6: 48,907,974 (GRCm39)	Y325H	probably damaging	Het
Arb2a	A	T	13: 78,147,781 (GRCm39)	H283L	probably benign	Het
B3galt4	A	G	17: 34,169,867 (GRCm39)	S124P	possibly damaging	Het
Cabin1	T	C	10: 75,492,650 (GRCm39)	I1882V	probably benign	Het
Caprin2	A	T	6: 148,774,525 (GRCm39)	S262R	probably benign	Het
Csmd2	A	C	4: 128,336,681 (GRCm39)	I1420L		Het
Cyp2b9	T	G	7: 25,900,185 (GRCm39)	V331G	probably damaging	Het
Cyp3a59	A	T	5: 146,045,896 (GRCm39)	M433L	probably benign	Het
Edrf1	A	G	7: 133,255,644 (GRCm39)	D597G	probably benign	Het
Emc3	G	A	6: 113,496,931 (GRCm39)	R147C	possibly damaging	Het
Fkbp7	T	C	2: 76,497,581 (GRCm39)		probably benign	Het
Flii	T	C	11: 60,609,433 (GRCm39)	T665A	possibly damaging	Het
Fxr1	A	G	3: 34,100,831 (GRCm39)		probably benign	Het
Gpr37	T	G	6: 25,669,369 (GRCm39)	I492L	probably benign	Het
Hmg20b	A	C	10: 81,184,749 (GRCm39)	W108G	probably damaging	Het
Ighv9-3	G	A	12: 114,104,385 (GRCm39)	T93I	possibly damaging	Het
Inpp5a	T	C	7: 138,969,349 (GRCm39)	V15A	probably benign	Het
Inpp5d	T	A	1: 87,619,433 (GRCm39)	Y376N	probably damaging	Het
Ints6	A	G	14: 62,931,122 (GRCm39)	F854L	probably benign	Het
Ipo7	A	T	7: 109,641,223 (GRCm39)	K314N	probably damaging	Het
Ltn1	C	A	16: 87,215,390 (GRCm39)	C415F	probably damaging	Het
Mfsd9	T	C	1: 40,813,554 (GRCm39)	T254A	probably benign	Het
Musk	A	G	4: 58,286,151 (GRCm39)	T14A	probably benign	Het
Nnt	A	T	13: 119,494,173 (GRCm39)	V636D	unknown	Het
Or10ak14	A	G	4: 118,611,411 (GRCm39)	L110P	probably damaging	Het
Or11h23	A	T	14: 50,947,957 (GRCm39)	T57S	possibly damaging	Het
Or52ae9	A	G	7: 103,390,021 (GRCm39)	I142T	probably benign	Het
Ost4	T	C	5: 31,064,935 (GRCm39)		probably benign	Het
Pdzph1	T	C	17: 59,257,237 (GRCm39)	T934A	probably benign	Het
Plekhn1	T	A	4: 156,307,046 (GRCm39)		probably benign	Het
Prkd1	T	C	12: 50,389,616 (GRCm39)		probably benign	Het
Ptch1	A	T	13: 63,689,038 (GRCm39)	L413Q	probably damaging	Het
S100pbp	A	G	4: 129,076,000 (GRCm39)		probably null	Het
Sec23a	T	C	12: 59,037,781 (GRCm39)	K361E	possibly damaging	Het
Sema3b	C	T	9: 107,478,552 (GRCm39)		probably benign	Het
Serpina3g	A	G	12: 104,204,038 (GRCm39)		probably benign	Het
Slc23a2	C	T	2: 131,943,392 (GRCm39)		silent	Het
Smug1	T	C	15: 103,064,247 (GRCm39)	R225G	possibly damaging	Het
Srbd1	T	A	17: 86,295,849 (GRCm39)	I854L	probably benign	Het
Tbc1d16	G	A	11: 119,047,474 (GRCm39)	R417C	probably damaging	Het
Tiam1	A	G	16: 89,681,827 (GRCm39)	Y384H	probably damaging	Het
Trappc9	T	A	15: 72,930,087 (GRCm39)	K90*	probably null	Het
Tubgcp6	A	T	15: 88,987,681 (GRCm39)	H1097Q	possibly damaging	Het
Ugt2b37	A	G	5: 87,402,415 (GRCm39)	L72P	probably damaging	Het
Vmn2r20	A	T	6: 123,373,515 (GRCm39)	H442Q	possibly damaging	Het
Vmn2r65	A	T	7: 84,595,489 (GRCm39)	Y398*	probably null	Het
Zfhx4	A	G	3: 5,466,915 (GRCm39)	T2383A	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
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'- TGTCAAGACAGGCTGCAGTG -3'
(R):5'- GGAAACCATGCAGTCAACAG -3'

Sequencing Primer
(F):5'- AGTGCAAGCGTCTGCCTAAC -3'
(R):5'- ACTTACCTTTTATCAAGCAGCG -3'

Posted On

2021-07-15