Incidental Mutation 'R5052:Ncapd3'
ID 394704
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 042642-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.962) question?
Stock # R5052 (G1)
Quality Score 225
Status Validated
Chromosome 9
Chromosomal Location 26941471-27006611 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to G at 26963015 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Arginine at position 440 (L440R)
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 damaging
Transcript: ENSMUST00000073127
AA Change: L440R

PolyPhen 2 Score 0.966 (Sensitivity: 0.77; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000072871
Gene: ENSMUSG00000035024
AA Change: L440R

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 damaging
Transcript: ENSMUST00000086198
AA Change: L440R

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000083374
Gene: ENSMUSG00000035024
AA Change: L440R

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 probably damaging
Transcript: ENSMUST00000216677
AA Change: L440R

PolyPhen 2 Score 0.966 (Sensitivity: 0.77; Specificity: 0.95)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000217311
Meta Mutation Damage Score 0.6467 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.0%
  • 10x: 94.8%
  • 20x: 86.2%
Validation Efficiency 100% (58/58)
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: 42 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcd3 A T 3: 121,563,162 (GRCm39) probably null Het
Adgrv1 T C 13: 81,676,940 (GRCm39) T1964A probably damaging Het
Agbl5 C T 5: 31,048,558 (GRCm39) T210I possibly damaging Het
Ak5 T C 3: 152,366,204 (GRCm39) T66A probably benign Het
Aktip G A 8: 91,856,279 (GRCm39) T66I possibly damaging Het
Aldh1l2 T C 10: 83,344,556 (GRCm39) Y330C possibly damaging Het
Btbd19 T G 4: 116,979,454 (GRCm39) K122Q possibly damaging Het
Cd180 A G 13: 102,841,403 (GRCm39) T150A probably benign Het
Celsr2 A G 3: 108,319,674 (GRCm39) I1046T probably damaging Het
Cep170 C T 1: 176,621,117 (GRCm39) R20Q probably damaging Het
Cercam T A 2: 29,765,639 (GRCm39) N260K probably damaging Het
Cfh T A 1: 140,071,782 (GRCm39) H284L probably damaging Het
Chmp5 A G 4: 40,948,608 (GRCm39) M1V probably null Het
Elp3 A T 14: 65,815,389 (GRCm39) I220N probably damaging Het
Esyt2 A G 12: 116,331,416 (GRCm39) T765A probably damaging Het
Evi5l T C 8: 4,256,019 (GRCm39) probably benign Het
Gm5866 T G 5: 52,740,234 (GRCm39) noncoding transcript Het
Grik1 C A 16: 87,746,986 (GRCm39) G417V probably benign Het
Gtpbp1 T G 15: 79,600,170 (GRCm39) I399R probably damaging Het
Il17rc T C 6: 113,449,284 (GRCm39) C14R probably damaging Het
Ipo9 T C 1: 135,316,349 (GRCm39) probably null Het
Kazn G A 4: 141,845,514 (GRCm39) probably benign Het
Map3k15 T C X: 158,771,742 (GRCm39) V105A possibly damaging Het
Mitf A G 6: 97,987,406 (GRCm39) T320A possibly damaging Het
Nrxn2 C G 19: 6,505,234 (GRCm39) A359G probably damaging Het
P2rx3 T G 2: 84,829,368 (GRCm39) I371L probably benign Het
Pde1b C A 15: 103,436,075 (GRCm39) Q493K possibly damaging Het
Ptpn13 T C 5: 103,709,846 (GRCm39) F1503S probably damaging Het
Ptprz1 T G 6: 23,045,625 (GRCm39) W1283G probably damaging Het
Rasd2 T A 8: 75,948,564 (GRCm39) D163E possibly damaging Het
Rgs11 A G 17: 26,426,947 (GRCm39) probably benign Het
Scap T C 9: 110,182,220 (GRCm39) I37T possibly damaging Het
Sgms2 C T 3: 131,124,005 (GRCm39) V232M probably benign Het
Slc25a54 A G 3: 109,010,016 (GRCm39) I172V probably benign Het
Sympk C T 7: 18,769,967 (GRCm39) R215C probably benign Het
Tacc2 T A 7: 130,336,744 (GRCm39) D171E probably damaging Het
Tmco4 A G 4: 138,785,817 (GRCm39) E629G probably benign Het
Trav7-1 T G 14: 52,892,765 (GRCm39) L106R possibly damaging Het
Ugt1a1 CAGAGAGAGAGAGA CAGAGAGAGAGA 1: 88,139,706 (GRCm39) probably benign Het
Utf1 T C 7: 139,524,814 (GRCm39) probably benign Het
Zdhhc13 A G 7: 48,474,479 (GRCm39) N577S possibly damaging Het
Zmym6 A G 4: 127,017,767 (GRCm39) N1183D possibly 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
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'- GATGTGTCCGAATCCAAGCTC -3'
(R):5'- AACACCGAGTTATGCCTCC -3'

Sequencing Primer
(F):5'- TGACTGTCTGATGGCAGCC -3'
(R):5'- GAGTTATGCCTCCAGCCTC -3'
Posted On 2016-06-15