Incidental Mutation 'R5840:Ncapd3'
ID 450384
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 044060-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.962) question?
Stock # R5840 (G1)
Quality Score 225
Status Validated
Chromosome 9
Chromosomal Location 26941471-27006611 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 27006054 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Proline at position 1492 (S1492P)
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

DomainStartEndE-ValueType
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 benign
Transcript: ENSMUST00000073127
AA Change: S1492P

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000072871
Gene: ENSMUSG00000035024
AA Change: S1492P

DomainStartEndE-ValueType
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 unknown
Transcript: ENSMUST00000086198
AA Change: I1217T
SMART Domains Protein: ENSMUSP00000083374
Gene: ENSMUSG00000035024
AA Change: I1217T

DomainStartEndE-ValueType
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 noncoding transcript
Transcript: ENSMUST00000214432
Predicted Effect probably benign
Transcript: ENSMUST00000216677
AA Change: S1492P

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000217654
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
  • 1x: 99.8%
  • 3x: 99.3%
  • 10x: 96.5%
  • 20x: 88.1%
Validation Efficiency 99% (75/76)
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: 60 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca2 G A 2: 25,323,371 (GRCm39) R113Q probably benign Het
Aip G A 19: 4,166,010 (GRCm39) P147L possibly damaging Het
Anapc1 A C 2: 128,448,957 (GRCm39) probably benign Het
Arhgap42 C T 9: 9,046,518 (GRCm39) V240I possibly damaging Het
Axdnd1 T C 1: 156,176,528 (GRCm39) E684G probably damaging Het
BC005624 G A 2: 30,871,869 (GRCm39) R2W probably benign Het
Cd177 T G 7: 24,457,495 (GRCm39) Q182P probably damaging Het
Cdca5 G A 19: 6,140,399 (GRCm39) E187K possibly damaging Het
Chmp1a T C 8: 123,934,839 (GRCm39) Q39R probably benign Het
Dab2ip A G 2: 35,617,511 (GRCm39) I1079V probably damaging Het
Dip2c A T 13: 9,556,712 (GRCm39) E85D possibly damaging Het
Elmo2 A T 2: 165,137,472 (GRCm39) S497R possibly damaging Het
Ephb6 C T 6: 41,592,507 (GRCm39) A339V possibly damaging Het
Foxred1 T C 9: 35,121,435 (GRCm39) K38E probably damaging Het
Frem2 T A 3: 53,555,342 (GRCm39) T1732S probably damaging Het
Fto A G 8: 92,393,068 (GRCm39) probably benign Het
Gm17430 T A 18: 9,726,528 (GRCm39) Q48L probably damaging Het
Gng2 A G 14: 19,925,882 (GRCm39) I70T probably damaging Het
Gtf2a2 A G 9: 69,922,575 (GRCm39) probably benign Het
Invs A G 4: 48,396,284 (GRCm39) D263G probably damaging Het
Itga2b C T 11: 102,352,157 (GRCm39) V475M probably damaging Het
Kansl1l A G 1: 66,809,374 (GRCm39) probably benign Het
Klhl25 T C 7: 75,516,440 (GRCm39) F449L possibly damaging Het
Lamb1 T A 12: 31,316,755 (GRCm39) C83S probably damaging Het
Loxl4 G T 19: 42,587,154 (GRCm39) T648K probably damaging Het
Lrit2 T C 14: 36,790,962 (GRCm39) F214L possibly damaging Het
N4bp2 T G 5: 65,965,437 (GRCm39) L1162R probably damaging Het
Naa40 A T 19: 7,207,373 (GRCm39) I117N probably benign Het
Nf2 T A 11: 4,766,146 (GRCm39) D128V probably benign Het
Nox4 T C 7: 87,010,001 (GRCm39) S401P probably benign Het
Nt5c1b T C 12: 10,427,171 (GRCm39) V323A probably damaging Het
Or52a33 C T 7: 103,288,463 (GRCm39) V295I probably benign Het
Or52s19 T A 7: 103,007,576 (GRCm39) H275L probably damaging Het
Or5b118 G A 19: 13,449,242 (GRCm39) V303I probably benign Het
Pcdhb14 T C 18: 37,581,803 (GRCm39) V303A probably benign Het
Pde8a C A 7: 80,863,713 (GRCm39) H17Q probably benign Het
Pfkl C T 10: 77,824,558 (GRCm39) V716I probably benign Het
Phc3 G A 3: 30,990,732 (GRCm39) S495L possibly damaging Het
Psg18 A G 7: 18,080,527 (GRCm39) probably benign Het
Rcc2 T G 4: 140,439,449 (GRCm39) N175K possibly damaging Het
Rhot2 G A 17: 26,059,032 (GRCm39) T276I probably benign Het
Rnase9 A T 14: 51,276,445 (GRCm39) Y178N probably benign Het
Sema4b T C 7: 79,868,697 (GRCm39) C297R probably damaging Het
Slc35d2 T C 13: 64,266,227 (GRCm39) probably null Het
Sptlc3 A T 2: 139,389,126 (GRCm39) N169Y probably damaging Het
Srsf9 T G 5: 115,469,524 (GRCm39) M29R probably benign Het
Stip1 C A 19: 6,999,436 (GRCm39) D449Y possibly damaging Het
Syne2 T A 12: 75,927,065 (GRCm39) probably null Het
Tgm5 A G 2: 120,916,141 (GRCm39) probably null Het
Thbs2 A T 17: 14,901,692 (GRCm39) probably null Het
Trak2 T C 1: 58,958,432 (GRCm39) E283G probably damaging Het
Trbv21 A G 6: 41,179,792 (GRCm39) Y36C probably damaging Het
Trpm7 A T 2: 126,664,531 (GRCm39) Y949* probably null Het
Ubqln5 T C 7: 103,778,161 (GRCm39) D221G possibly damaging Het
Ubxn4 T A 1: 128,187,262 (GRCm39) V85D possibly damaging Het
Vmn1r172 T A 7: 23,359,600 (GRCm39) W162R probably benign Het
Vrk2 A G 11: 26,484,314 (GRCm39) probably benign Het
Zc3h8 A C 2: 128,771,824 (GRCm39) D276E probably benign Het
Zfp369 C T 13: 65,445,092 (GRCm39) T745I possibly damaging Het
Zfp608 T C 18: 55,031,978 (GRCm39) K654R probably damaging Het
Other mutations in Ncapd3
AlleleSourceChrCoordTypePredicted EffectPPH 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
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
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'- TTGTCAGAGAAACACGAAGCCC -3'
(R):5'- GGTTAGACAAACACAAGCTGC -3'

Sequencing Primer
(F):5'- CAAGAACAAGGAAGTGACATTTTATG -3'
(R):5'- GCTGCACAAAGACACACTGATGTC -3'
Posted On 2016-12-20