Incidental Mutation 'R4835:Ncapd3'
ID 373163
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 042450-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.962) question?
Stock # R4835 (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 26997342 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Proline at position 1221 (L1221P)
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 damaging
Transcript: ENSMUST00000073127
AA Change: L1221P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000072871
Gene: ENSMUSG00000035024
AA Change: L1221P

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 probably benign
Transcript: ENSMUST00000086198
SMART Domains Protein: ENSMUSP00000083374
Gene: ENSMUSG00000035024

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: ENSMUST00000214270
Predicted Effect noncoding transcript
Transcript: ENSMUST00000214432
Predicted Effect probably damaging
Transcript: ENSMUST00000216677
AA Change: L1221P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Meta Mutation Damage Score 0.9489 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.5%
  • 10x: 96.8%
  • 20x: 93.8%
Validation Efficiency 98% (96/98)
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: 91 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930432E11Rik A T 7: 29,274,326 (GRCm39) noncoding transcript Het
4933434E20Rik A G 3: 89,970,516 (GRCm39) N17D probably benign Het
A1bg T C 15: 60,792,100 (GRCm39) D176G probably benign Het
Abcg5 A T 17: 84,966,076 (GRCm39) M428K possibly damaging Het
Adam1a A T 5: 121,657,752 (GRCm39) C514S probably damaging Het
Angptl3 A G 4: 98,925,649 (GRCm39) Q325R probably benign Het
Ankrd26 C T 6: 118,525,811 (GRCm39) W378* probably null Het
Apob T C 12: 8,065,391 (GRCm39) V4087A possibly damaging Het
Auts2 A G 5: 131,494,931 (GRCm39) I117T probably damaging Het
AW146154 T A 7: 41,129,892 (GRCm39) E408V probably damaging Het
Bicd1 A T 6: 149,385,588 (GRCm39) N107I probably benign Het
Blm T C 7: 80,159,294 (GRCm39) S281G probably benign Het
Btaf1 T A 19: 36,979,858 (GRCm39) D1542E probably benign Het
C2cd2l A G 9: 44,226,442 (GRCm39) probably null Het
Capn8 C A 1: 182,432,116 (GRCm39) N362K probably damaging Het
Ccdc14 T G 16: 34,525,408 (GRCm39) S186A probably damaging Het
Cdca4 A G 12: 112,785,167 (GRCm39) L187P probably damaging Het
Chil6 T A 3: 106,313,290 (GRCm39) K20* probably null Het
Cmss1 A T 16: 57,136,545 (GRCm39) L109* probably null Het
Cmtm6 G T 9: 114,560,410 (GRCm39) W36L probably benign Het
Cnksr3 T G 10: 7,110,757 (GRCm39) I35L possibly damaging Het
Col4a2 G T 8: 11,473,570 (GRCm39) G534* probably null Het
Col5a1 T G 2: 27,915,656 (GRCm39) V180G probably damaging Het
Ctnna3 T C 10: 63,417,723 (GRCm39) F154L probably benign Het
Fabp7 G A 10: 57,661,676 (GRCm39) V50M possibly damaging Het
Fam170a T A 18: 50,415,050 (GRCm39) V232D probably damaging Het
Fam186a T G 15: 99,843,689 (GRCm39) T852P unknown Het
Fam20a T C 11: 109,564,389 (GRCm39) I455V probably benign Het
Fbxl6 C T 15: 76,421,004 (GRCm39) V324M probably damaging Het
Galnt18 T C 7: 111,378,730 (GRCm39) T9A probably damaging Het
Golgb1 T A 16: 36,711,769 (GRCm39) M191K possibly damaging Het
Gpld1 A G 13: 25,166,699 (GRCm39) T650A probably benign Het
Gprc5d A G 6: 135,093,515 (GRCm39) F131L probably benign Het
H2az2 C T 11: 6,389,437 (GRCm39) G7E unknown Het
Haus4 A T 14: 54,783,292 (GRCm39) probably null Het
Helq A G 5: 100,922,029 (GRCm39) I725T possibly damaging Het
Igsf23 T A 7: 19,675,755 (GRCm39) D117V possibly damaging Het
Kiz A T 2: 146,784,008 (GRCm39) S514C probably damaging Het
Klhl6 A T 16: 19,775,783 (GRCm39) N258K probably benign Het
Krt72 G C 15: 101,689,508 (GRCm39) probably null Het
Large1 A T 8: 73,774,975 (GRCm39) I245N probably damaging Het
Lrrc31 T C 3: 30,733,306 (GRCm39) I469M probably damaging Het
Lypd4 T A 7: 24,566,121 (GRCm39) I68F probably benign Het
Mast1 A G 8: 85,650,408 (GRCm39) S442P probably damaging Het
Mmp20 T A 9: 7,645,300 (GRCm39) H283Q probably benign Het
Mrps5 G A 2: 127,445,627 (GRCm39) V385M possibly damaging Het
Ms4a15 T C 19: 10,956,590 (GRCm39) K241E possibly damaging Het
Myt1 A G 2: 181,439,255 (GRCm39) E259G probably damaging Het
Myt1l C A 12: 29,945,304 (GRCm39) T1023K unknown Het
Ncoa6 A G 2: 155,249,053 (GRCm39) V1417A possibly damaging Het
Nmnat1 A G 4: 149,557,802 (GRCm39) V80A possibly damaging Het
Nwd2 A G 5: 63,965,189 (GRCm39) E1591G probably benign Het
Or10ac1 A G 6: 42,515,770 (GRCm39) F62S probably damaging Het
Or8j3b A G 2: 86,204,853 (GRCm39) L301S possibly damaging Het
Osbpl1a A T 18: 12,901,593 (GRCm39) probably null Het
Papln T C 12: 83,821,194 (GRCm39) I204T probably damaging Het
Phf1 A G 17: 27,153,652 (GRCm39) T97A probably benign Het
Plxnb1 A G 9: 108,934,442 (GRCm39) D890G probably damaging Het
Ppp1r12b G T 1: 134,883,471 (GRCm39) A17E probably benign Het
Ptgir A G 7: 16,640,794 (GRCm39) M29V possibly damaging Het
Rbp2 G A 9: 98,389,876 (GRCm39) C96Y probably damaging Het
Rgmb A T 17: 16,027,624 (GRCm39) M365K possibly damaging Het
Ric1 A G 19: 29,572,936 (GRCm39) N792S possibly damaging Het
Ruvbl1 T C 6: 88,474,211 (GRCm39) Y405H possibly damaging Het
Scaf4 A G 16: 90,047,195 (GRCm39) M394T unknown Het
Siglech T A 7: 55,418,177 (GRCm39) C48* probably null Het
Skic2 A G 17: 35,061,897 (GRCm39) V695A possibly damaging Het
Slc2a5 A G 4: 150,224,462 (GRCm39) T320A probably benign Het
Slc6a7 T C 18: 61,135,277 (GRCm39) Y417C probably benign Het
Sox21 A G 14: 118,472,336 (GRCm39) C238R possibly damaging Het
Tbata A T 10: 61,019,132 (GRCm39) K109N probably damaging Het
Tecpr2 T G 12: 110,921,164 (GRCm39) S1246A probably benign Het
Tekt3 A G 11: 62,972,085 (GRCm39) D247G probably benign Het
Tenm3 A T 8: 48,766,271 (GRCm39) probably null Het
Thada A T 17: 84,748,532 (GRCm39) probably null Het
Tpcn2 C T 7: 144,826,088 (GRCm39) G204R probably damaging Het
Tpm2 T C 4: 43,519,220 (GRCm39) probably null Het
Trbv24 T C 6: 41,195,026 (GRCm39) probably benign Het
Tyw1 A G 5: 130,305,899 (GRCm39) R341G probably benign Het
Vmn1r183 T G 7: 23,754,564 (GRCm39) N122K probably benign Het
Vmn2r61 T A 7: 41,916,459 (GRCm39) H357Q possibly damaging Het
Vps13b C T 15: 35,869,518 (GRCm39) T2674I probably damaging Het
Vps13b T C 15: 35,910,439 (GRCm39) L3401P probably benign Het
Vps16 T G 2: 130,280,220 (GRCm39) probably benign Het
Vrtn T A 12: 84,696,468 (GRCm39) I406N probably damaging Het
Vwa8 A T 14: 79,172,053 (GRCm39) Y278F probably benign Het
Washc4 A T 10: 83,415,376 (GRCm39) I789F possibly damaging Het
Zbtb20 C A 16: 43,438,761 (GRCm39) T627K probably damaging Het
Zfyve16 A T 13: 92,658,693 (GRCm39) I406K probably benign Het
Zfyve9 A C 4: 108,575,195 (GRCm39) S629A possibly damaging Het
Zpld1 A T 16: 55,068,618 (GRCm39) N164K 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
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
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'- TGGCACATGGGCTTCTGTAG -3'
(R):5'- CAGTGGTACTTCTCGTCACAC -3'

Sequencing Primer
(F):5'- CTGTAGCTGCTAGATTTGATGTAC -3'
(R):5'- ACACCCTTCGGTACCTGACTG -3'
Posted On 2016-03-01