Incidental Mutation 'R0084:Ncapd3'
ID |
19816 |
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 |
038371-MU
|
Accession Numbers |
|
Essential gene? |
Probably essential
(E-score: 0.962)
|
Stock # |
R0084 (G1)
|
Quality Score |
157 |
Status
|
Validated
|
Chromosome |
9 |
Chromosomal Location |
26941471-27006611 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 26967407 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Aspartic acid to Glycine
at position 581
(D581G)
|
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 benign
Transcript: ENSMUST00000073127
AA Change: D581G
PolyPhen 2
Score 0.064 (Sensitivity: 0.94; Specificity: 0.84)
|
SMART Domains |
Protein: ENSMUSP00000072871 Gene: ENSMUSG00000035024 AA Change: D581G
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 damaging
Transcript: ENSMUST00000086198
AA Change: D581G
PolyPhen 2
Score 0.983 (Sensitivity: 0.75; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000083374 Gene: ENSMUSG00000035024 AA Change: D581G
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 |
probably benign
Transcript: ENSMUST00000216677
AA Change: D581G
PolyPhen 2
Score 0.064 (Sensitivity: 0.94; Specificity: 0.84)
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000217311
|
Meta Mutation Damage Score |
0.5431 |
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.0%
- 10x: 94.5%
- 20x: 86.0%
|
Validation Efficiency |
99% (77/78) |
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: 58 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abca8a |
A |
G |
11: 109,927,423 (GRCm39) |
|
probably benign |
Het |
Abcc9 |
A |
G |
6: 142,604,277 (GRCm39) |
Y653H |
probably damaging |
Het |
Acp3 |
A |
T |
9: 104,191,564 (GRCm39) |
S241T |
probably benign |
Het |
Acvr1 |
A |
G |
2: 58,348,895 (GRCm39) |
|
probably null |
Het |
Adgb |
T |
C |
10: 10,272,088 (GRCm39) |
N832S |
possibly damaging |
Het |
AI182371 |
A |
G |
2: 34,975,714 (GRCm39) |
|
probably null |
Het |
Anapc1 |
G |
A |
2: 128,465,886 (GRCm39) |
|
probably benign |
Het |
Apba1 |
T |
C |
19: 23,889,861 (GRCm39) |
S420P |
possibly damaging |
Het |
Ass1 |
A |
T |
2: 31,404,831 (GRCm39) |
N371Y |
probably damaging |
Het |
Bpifb2 |
A |
T |
2: 153,733,011 (GRCm39) |
M365L |
probably benign |
Het |
Btnl9 |
A |
T |
11: 49,069,606 (GRCm39) |
N224K |
possibly damaging |
Het |
Cntn1 |
A |
T |
15: 92,215,798 (GRCm39) |
I944L |
probably benign |
Het |
Cpa3 |
T |
C |
3: 20,296,265 (GRCm39) |
|
probably benign |
Het |
Dcaf11 |
C |
T |
14: 55,806,700 (GRCm39) |
R468C |
probably benign |
Het |
E4f1 |
T |
C |
17: 24,663,056 (GRCm39) |
T750A |
possibly damaging |
Het |
Ercc5 |
A |
G |
1: 44,215,136 (GRCm39) |
K890E |
possibly damaging |
Het |
Fbrsl1 |
A |
G |
5: 110,527,381 (GRCm39) |
L262P |
probably damaging |
Het |
Flnb |
A |
G |
14: 7,935,979 (GRCm38) |
D2273G |
probably benign |
Het |
Gm9848 |
A |
T |
13: 113,244,776 (GRCm39) |
|
noncoding transcript |
Het |
Hcrtr1 |
T |
A |
4: 130,031,059 (GRCm39) |
H75L |
possibly damaging |
Het |
Heatr9 |
A |
T |
11: 83,403,721 (GRCm39) |
|
probably benign |
Het |
Htatip2 |
G |
A |
7: 49,409,420 (GRCm39) |
G58D |
probably damaging |
Het |
Jkampl |
A |
T |
6: 73,445,918 (GRCm39) |
Y210* |
probably null |
Het |
Lmntd1 |
G |
A |
6: 145,350,254 (GRCm39) |
H234Y |
unknown |
Het |
Ly6g2 |
T |
A |
15: 75,089,624 (GRCm39) |
M44K |
probably benign |
Het |
Map4k3 |
T |
C |
17: 80,963,343 (GRCm39) |
K85E |
possibly damaging |
Het |
Moxd2 |
T |
C |
6: 40,856,342 (GRCm39) |
D510G |
probably null |
Het |
Mpv17l2 |
A |
T |
8: 71,217,190 (GRCm39) |
|
probably benign |
Het |
Nbeal2 |
A |
G |
9: 110,472,778 (GRCm39) |
|
probably null |
Het |
Ndufb5 |
T |
C |
3: 32,791,352 (GRCm39) |
V33A |
probably benign |
Het |
Or10a49 |
A |
T |
7: 108,468,007 (GRCm39) |
M118K |
probably damaging |
Het |
Osbpl1a |
T |
C |
18: 12,890,669 (GRCm39) |
T524A |
probably benign |
Het |
Otogl |
A |
C |
10: 107,737,202 (GRCm39) |
S71A |
probably damaging |
Het |
Ovol2 |
G |
T |
2: 144,147,808 (GRCm39) |
N180K |
probably damaging |
Het |
Pam |
A |
G |
1: 97,823,774 (GRCm39) |
V219A |
probably benign |
Het |
Paox |
C |
T |
7: 139,712,359 (GRCm39) |
R197* |
probably null |
Het |
Pax2 |
T |
A |
19: 44,806,874 (GRCm39) |
Y290N |
probably damaging |
Het |
Pik3ca |
T |
C |
3: 32,516,937 (GRCm39) |
M933T |
possibly damaging |
Het |
Ppfia4 |
G |
T |
1: 134,227,164 (GRCm39) |
R1124S |
possibly damaging |
Het |
Prkch |
T |
C |
12: 73,744,761 (GRCm39) |
F258S |
possibly damaging |
Het |
Rhob |
G |
A |
12: 8,549,107 (GRCm39) |
R176C |
probably benign |
Het |
Sbf2 |
A |
T |
7: 110,041,573 (GRCm39) |
I326N |
possibly damaging |
Het |
Scgb2b2 |
A |
T |
7: 31,003,041 (GRCm39) |
E45D |
probably benign |
Het |
Scube3 |
T |
A |
17: 28,381,935 (GRCm39) |
D320E |
probably benign |
Het |
Serpina1f |
A |
G |
12: 103,659,847 (GRCm39) |
V145A |
possibly damaging |
Het |
Slc28a2b |
A |
G |
2: 122,353,314 (GRCm39) |
Y498C |
possibly damaging |
Het |
Slc6a5 |
A |
C |
7: 49,579,761 (GRCm39) |
I380L |
probably benign |
Het |
Spag16 |
A |
G |
1: 70,035,998 (GRCm39) |
N342S |
probably benign |
Het |
Spata16 |
A |
G |
3: 26,721,559 (GRCm39) |
T27A |
possibly damaging |
Het |
Spock3 |
A |
C |
8: 63,596,963 (GRCm39) |
K89T |
probably damaging |
Het |
Tbc1d1 |
T |
C |
5: 64,481,797 (GRCm39) |
V795A |
probably damaging |
Het |
Tirap |
G |
T |
9: 35,100,458 (GRCm39) |
H75Q |
probably benign |
Het |
Tpk1 |
C |
A |
6: 43,323,763 (GRCm39) |
V229L |
possibly damaging |
Het |
Tshz2 |
A |
G |
2: 169,726,286 (GRCm39) |
H294R |
probably damaging |
Het |
Ttn |
A |
T |
2: 76,703,043 (GRCm39) |
|
probably benign |
Het |
Unc13d |
C |
T |
11: 115,954,657 (GRCm39) |
V984M |
probably damaging |
Het |
Zbtb43 |
A |
T |
2: 33,343,996 (GRCm39) |
Y373N |
probably damaging |
Het |
Zfp646 |
T |
A |
7: 127,480,476 (GRCm39) |
H884Q |
possibly damaging |
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 |
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 |
|
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'- GTTGATCCCTCACCCCAAAACGTAG -3'
(R):5'- GCACAACACTGTCTCCCTAAGTTCC -3'
Sequencing Primer
(F):5'- TAGGCAACAGGAATTGGAATCTTTG -3'
(R):5'- ttttttttttttttttGAGATGGGGC -3'
|
Posted On |
2013-04-11 |