Incidental Mutation 'R0565:Ncapd3'
ID |
46127 |
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 |
038756-MU
|
Accession Numbers |
|
Essential gene? |
Probably essential
(E-score: 0.962)
|
Stock # |
R0565 (G1)
|
Quality Score |
166 |
Status
|
Validated
|
Chromosome |
9 |
Chromosomal Location |
26941471-27006611 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to T
at 26999294 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Alanine to Valine
at position 1290
(A1290V)
|
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: A1290V
PolyPhen 2
Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)
|
SMART Domains |
Protein: ENSMUSP00000072871 Gene: ENSMUSG00000035024 AA Change: A1290V
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 |
noncoding transcript
Transcript: ENSMUST00000214270
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000214432
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000216677
AA Change: A1290V
PolyPhen 2
Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)
|
Meta Mutation Damage Score |
0.0898 |
Coding Region Coverage |
- 1x: 99.6%
- 3x: 98.8%
- 10x: 96.8%
- 20x: 93.6%
|
Validation Efficiency |
100% (73/73) |
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: 71 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4930562C15Rik |
A |
T |
16: 4,682,200 (GRCm39) |
H1010L |
probably benign |
Het |
A2ml1 |
C |
A |
6: 128,545,706 (GRCm39) |
E474* |
probably null |
Het |
Agtr1b |
T |
C |
3: 20,369,838 (GRCm39) |
H256R |
probably damaging |
Het |
Amacr |
C |
T |
15: 10,982,032 (GRCm39) |
A46V |
possibly damaging |
Het |
Atosb |
A |
T |
4: 43,034,647 (GRCm39) |
|
probably benign |
Het |
Cabp5 |
A |
T |
7: 13,135,260 (GRCm39) |
M67L |
probably damaging |
Het |
Caskin2 |
T |
C |
11: 115,691,842 (GRCm39) |
E981G |
probably damaging |
Het |
Ccdc88a |
A |
G |
11: 29,411,042 (GRCm39) |
|
probably benign |
Het |
Cd180 |
A |
G |
13: 102,839,382 (GRCm39) |
|
probably benign |
Het |
Cd200l1 |
T |
A |
16: 45,264,536 (GRCm39) |
|
probably benign |
Het |
Cemip |
G |
A |
7: 83,613,318 (GRCm39) |
H627Y |
probably damaging |
Het |
Cep131 |
G |
T |
11: 119,964,588 (GRCm39) |
H289Q |
probably damaging |
Het |
Cep350 |
G |
A |
1: 155,836,941 (GRCm39) |
|
probably benign |
Het |
Cfap52 |
A |
T |
11: 67,840,425 (GRCm39) |
C169S |
probably benign |
Het |
Cps1 |
A |
T |
1: 67,205,608 (GRCm39) |
T544S |
possibly damaging |
Het |
Cul7 |
T |
C |
17: 46,962,929 (GRCm39) |
S187P |
probably damaging |
Het |
Dhx40 |
C |
A |
11: 86,661,993 (GRCm39) |
R688L |
probably damaging |
Het |
E330034G19Rik |
C |
A |
14: 24,356,985 (GRCm39) |
Q174K |
probably benign |
Het |
Efna5 |
T |
C |
17: 63,188,031 (GRCm39) |
Y32C |
probably damaging |
Het |
Ethe1 |
A |
G |
7: 24,307,314 (GRCm39) |
H176R |
probably benign |
Het |
Exoc3 |
A |
G |
13: 74,330,394 (GRCm39) |
|
probably null |
Het |
Fam135b |
T |
A |
15: 71,362,686 (GRCm39) |
N232Y |
possibly damaging |
Het |
Fndc9 |
C |
T |
11: 46,128,984 (GRCm39) |
L168F |
probably damaging |
Het |
Fpr-rs3 |
G |
A |
17: 20,844,283 (GRCm39) |
A286V |
probably damaging |
Het |
Immt |
T |
A |
6: 71,823,467 (GRCm39) |
|
probably benign |
Het |
Ipo7 |
T |
C |
7: 109,648,800 (GRCm39) |
|
probably benign |
Het |
Ipo8 |
A |
T |
6: 148,688,221 (GRCm39) |
L747H |
probably damaging |
Het |
Ireb2 |
A |
T |
9: 54,807,267 (GRCm39) |
N610Y |
probably damaging |
Het |
Irs2 |
A |
G |
8: 11,054,592 (GRCm39) |
V1280A |
probably damaging |
Het |
Kcnj3 |
T |
A |
2: 55,485,276 (GRCm39) |
M458K |
probably benign |
Het |
Kl |
A |
G |
5: 150,904,409 (GRCm39) |
K387R |
possibly damaging |
Het |
L3mbtl2 |
C |
A |
15: 81,568,487 (GRCm39) |
|
probably benign |
Het |
Lamb1 |
A |
C |
12: 31,348,914 (GRCm39) |
I649L |
probably benign |
Het |
Lipm |
A |
C |
19: 34,093,906 (GRCm39) |
L274F |
probably benign |
Het |
Lrfn3 |
A |
G |
7: 30,060,216 (GRCm39) |
V3A |
probably benign |
Het |
Lrrc8c |
A |
C |
5: 105,754,894 (GRCm39) |
D223A |
probably damaging |
Het |
Ltn1 |
C |
A |
16: 87,212,898 (GRCm39) |
K554N |
probably benign |
Het |
Mertk |
T |
C |
2: 128,613,403 (GRCm39) |
I473T |
probably benign |
Het |
Mfsd12 |
C |
A |
10: 81,197,243 (GRCm39) |
N245K |
probably benign |
Het |
Mmp16 |
A |
G |
4: 17,987,705 (GRCm39) |
D89G |
probably damaging |
Het |
Myo5a |
T |
A |
9: 75,087,394 (GRCm39) |
N1083K |
probably benign |
Het |
Nefm |
A |
G |
14: 68,362,070 (GRCm39) |
S65P |
probably damaging |
Het |
Nt5c2 |
C |
T |
19: 46,886,064 (GRCm39) |
R220H |
probably damaging |
Het |
Or4c102 |
T |
A |
2: 88,422,353 (GRCm39) |
D68E |
probably benign |
Het |
Osbpl1a |
A |
T |
18: 12,892,501 (GRCm39) |
S438R |
probably damaging |
Het |
Pcdhb5 |
T |
C |
18: 37,453,820 (GRCm39) |
S67P |
possibly damaging |
Het |
Per3 |
A |
T |
4: 151,118,409 (GRCm39) |
I228N |
probably damaging |
Het |
Pnpla7 |
T |
G |
2: 24,870,129 (GRCm39) |
|
probably benign |
Het |
Ppp1r15b |
G |
T |
1: 133,064,391 (GRCm39) |
|
probably benign |
Het |
Psmd2 |
G |
T |
16: 20,479,176 (GRCm39) |
L678F |
probably null |
Het |
Ptch2 |
A |
G |
4: 116,963,340 (GRCm39) |
|
probably benign |
Het |
Ranbp2 |
T |
A |
10: 58,312,158 (GRCm39) |
D959E |
probably benign |
Het |
Rph3al |
C |
T |
11: 75,724,227 (GRCm39) |
|
probably null |
Het |
Sec31b |
T |
A |
19: 44,512,992 (GRCm39) |
E499V |
probably damaging |
Het |
Sel1l |
T |
C |
12: 91,778,663 (GRCm39) |
I667M |
probably benign |
Het |
Sel1l |
C |
A |
12: 91,780,719 (GRCm39) |
V641L |
possibly damaging |
Het |
Slc7a1 |
T |
A |
5: 148,288,879 (GRCm39) |
I123F |
probably damaging |
Het |
Smarca2 |
G |
A |
19: 26,659,275 (GRCm39) |
R855Q |
possibly damaging |
Het |
Sphk1 |
G |
T |
11: 116,427,184 (GRCm39) |
|
probably benign |
Het |
Spink12 |
C |
A |
18: 44,237,755 (GRCm39) |
S11* |
probably null |
Het |
Sstr2 |
A |
T |
11: 113,516,445 (GRCm39) |
I342F |
probably benign |
Het |
Stxbp1 |
T |
C |
2: 32,709,860 (GRCm39) |
T78A |
probably benign |
Het |
Trim11 |
T |
A |
11: 58,881,410 (GRCm39) |
S434R |
probably damaging |
Het |
Ubr2 |
T |
C |
17: 47,266,812 (GRCm39) |
E1113G |
probably damaging |
Het |
Upb1 |
T |
A |
10: 75,264,188 (GRCm39) |
|
probably benign |
Het |
Vit |
T |
A |
17: 78,932,266 (GRCm39) |
C458S |
probably damaging |
Het |
Vmn1r58 |
T |
C |
7: 5,414,165 (GRCm39) |
I22V |
probably benign |
Het |
Vps25 |
T |
C |
11: 101,149,731 (GRCm39) |
|
probably benign |
Het |
Wbp2 |
G |
T |
11: 115,973,211 (GRCm39) |
D65E |
possibly damaging |
Het |
Wdr72 |
A |
G |
9: 74,124,588 (GRCm39) |
D980G |
probably benign |
Het |
Xkr8 |
A |
C |
4: 132,458,228 (GRCm39) |
|
probably null |
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 |
|
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 |
|
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'- AATGAGAGGGTCTAACCTGCCCTG -3'
(R):5'- ATGGAGGCATCAGTTCCTACCCAG -3'
Sequencing Primer
(F):5'- AACCTGCCCTGACATTTGTG -3'
(R):5'- TGCCTATGAGAATGCCTCAACTG -3'
|
Posted On |
2013-06-11 |