Incidental Mutation 'R0491:Ncapd3'
ID |
42477 |
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 |
038689-MU
|
Accession Numbers |
|
Essential gene? |
Probably essential
(E-score: 0.962)
|
Stock # |
R0491 (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 26969179 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Valine to Glycine
at position 611
(V611G)
|
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: V611G
PolyPhen 2
Score 0.967 (Sensitivity: 0.77; Specificity: 0.95)
|
SMART Domains |
Protein: ENSMUSP00000072871 Gene: ENSMUSG00000035024 AA Change: V611G
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 |
possibly damaging
Transcript: ENSMUST00000086198
AA Change: V611G
PolyPhen 2
Score 0.941 (Sensitivity: 0.80; Specificity: 0.94)
|
SMART Domains |
Protein: ENSMUSP00000083374 Gene: ENSMUSG00000035024 AA Change: V611G
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 damaging
Transcript: ENSMUST00000216677
AA Change: V611G
PolyPhen 2
Score 0.967 (Sensitivity: 0.77; Specificity: 0.95)
|
Meta Mutation Damage Score |
0.6467 |
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 96.8%
- 20x: 94.4%
|
Validation Efficiency |
100% (65/65) |
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: 67 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abca13 |
T |
C |
11: 9,248,235 (GRCm39) |
F2661L |
probably benign |
Het |
Acadsb |
A |
G |
7: 131,031,836 (GRCm39) |
D224G |
probably benign |
Het |
Acsm1 |
A |
G |
7: 119,239,920 (GRCm39) |
H288R |
probably damaging |
Het |
Adamts2 |
A |
G |
11: 50,667,457 (GRCm39) |
D465G |
probably damaging |
Het |
Akap9 |
A |
T |
5: 4,022,851 (GRCm39) |
|
probably benign |
Het |
Alms1 |
A |
G |
6: 85,679,582 (GRCm39) |
T3240A |
probably damaging |
Het |
Ap3d1 |
A |
G |
10: 80,555,075 (GRCm39) |
W417R |
probably damaging |
Het |
Arfgef1 |
C |
A |
1: 10,250,212 (GRCm39) |
|
probably benign |
Het |
Atf6 |
A |
G |
1: 170,614,913 (GRCm39) |
|
probably null |
Het |
Cacna1s |
T |
A |
1: 136,016,746 (GRCm39) |
|
probably benign |
Het |
Clcn1 |
T |
C |
6: 42,287,515 (GRCm39) |
F740L |
probably benign |
Het |
Clec12a |
T |
A |
6: 129,341,016 (GRCm39) |
D265E |
probably benign |
Het |
Clic3 |
T |
A |
2: 25,347,797 (GRCm39) |
|
probably benign |
Het |
Cntnap3 |
T |
G |
13: 64,909,859 (GRCm39) |
T749P |
probably benign |
Het |
Col11a2 |
T |
A |
17: 34,261,186 (GRCm39) |
D45E |
probably null |
Het |
Cplane1 |
T |
A |
15: 8,211,727 (GRCm39) |
S356T |
probably damaging |
Het |
Crxos |
T |
A |
7: 15,632,460 (GRCm39) |
S89T |
probably benign |
Het |
Cxcr1 |
G |
T |
1: 74,231,468 (GRCm39) |
P185T |
possibly damaging |
Het |
Cyp20a1 |
T |
A |
1: 60,410,486 (GRCm39) |
N262K |
possibly damaging |
Het |
Dennd2b |
T |
A |
7: 109,156,411 (GRCm39) |
Q113L |
probably benign |
Het |
Dpy19l2 |
T |
C |
9: 24,607,324 (GRCm39) |
R46G |
probably benign |
Het |
Dpysl2 |
A |
T |
14: 67,045,411 (GRCm39) |
L454Q |
probably damaging |
Het |
Dvl3 |
C |
T |
16: 20,346,173 (GRCm39) |
|
probably benign |
Het |
Eppin |
T |
A |
2: 164,431,332 (GRCm39) |
E98V |
possibly damaging |
Het |
Fancm |
A |
T |
12: 65,152,835 (GRCm39) |
H1097L |
probably benign |
Het |
Fkbp4 |
A |
G |
6: 128,412,705 (GRCm39) |
I75T |
probably damaging |
Het |
Fmn2 |
A |
G |
1: 174,409,525 (GRCm39) |
H586R |
unknown |
Het |
Gm973 |
C |
T |
1: 59,597,393 (GRCm39) |
|
probably benign |
Het |
Haus6 |
A |
C |
4: 86,521,083 (GRCm39) |
V185G |
possibly damaging |
Het |
Herc2 |
T |
A |
7: 55,772,114 (GRCm39) |
C1098S |
possibly damaging |
Het |
Hic1 |
C |
A |
11: 75,057,136 (GRCm39) |
L584F |
possibly damaging |
Het |
Itgb1bp1 |
C |
A |
12: 21,326,896 (GRCm39) |
|
probably benign |
Het |
Kbtbd2 |
G |
A |
6: 56,757,374 (GRCm39) |
R121* |
probably null |
Het |
Lgr4 |
C |
T |
2: 109,837,626 (GRCm39) |
|
probably benign |
Het |
Lrrc55 |
T |
C |
2: 85,022,264 (GRCm39) |
E309G |
probably damaging |
Het |
Mertk |
T |
C |
2: 128,635,027 (GRCm39) |
|
probably null |
Het |
Micu3 |
A |
G |
8: 40,819,294 (GRCm39) |
|
probably benign |
Het |
Mmp11 |
G |
A |
10: 75,762,592 (GRCm39) |
A287V |
probably benign |
Het |
Mpzl2 |
A |
G |
9: 44,954,039 (GRCm39) |
Y47C |
probably damaging |
Het |
Muc5b |
A |
C |
7: 141,415,752 (GRCm39) |
R2899S |
probably benign |
Het |
Myo1b |
A |
G |
1: 51,794,857 (GRCm39) |
Y1078H |
probably benign |
Het |
Naip1 |
A |
T |
13: 100,559,727 (GRCm39) |
D1092E |
probably benign |
Het |
Ntpcr |
C |
T |
8: 126,464,093 (GRCm39) |
R73* |
probably null |
Het |
Or4c120 |
A |
T |
2: 89,000,704 (GRCm39) |
V284E |
probably benign |
Het |
Or5b119 |
G |
A |
19: 13,456,857 (GRCm39) |
A235V |
probably damaging |
Het |
Osbp2 |
A |
G |
11: 3,664,709 (GRCm39) |
F88S |
probably damaging |
Het |
Pkn3 |
A |
T |
2: 29,979,889 (GRCm39) |
T711S |
probably damaging |
Het |
Plekhm1 |
T |
C |
11: 103,285,602 (GRCm39) |
K278E |
probably benign |
Het |
Ppp1r36 |
A |
G |
12: 76,486,065 (GRCm39) |
T408A |
probably benign |
Het |
Prss41 |
T |
C |
17: 24,061,477 (GRCm39) |
T105A |
possibly damaging |
Het |
Psme1 |
G |
T |
14: 55,817,378 (GRCm39) |
|
probably benign |
Het |
Ptprq |
A |
T |
10: 107,444,036 (GRCm39) |
Y1523N |
probably damaging |
Het |
Ric8b |
A |
G |
10: 84,828,086 (GRCm39) |
D470G |
probably damaging |
Het |
Scarb1 |
A |
G |
5: 125,375,795 (GRCm39) |
|
probably benign |
Het |
Slc25a54 |
G |
A |
3: 109,010,112 (GRCm39) |
A204T |
probably damaging |
Het |
Spink10 |
T |
C |
18: 62,793,036 (GRCm39) |
C67R |
probably damaging |
Het |
Tmtc1 |
A |
T |
6: 148,314,138 (GRCm39) |
|
probably null |
Het |
Tprkb |
A |
G |
6: 85,901,446 (GRCm39) |
D28G |
probably benign |
Het |
Ttll13 |
A |
G |
7: 79,910,098 (GRCm39) |
H747R |
probably benign |
Het |
Usp24 |
A |
G |
4: 106,259,302 (GRCm39) |
S1608G |
probably benign |
Het |
Utp20 |
A |
T |
10: 88,596,774 (GRCm39) |
F2115L |
probably damaging |
Het |
Vmn1r200 |
A |
T |
13: 22,579,361 (GRCm39) |
I46L |
probably benign |
Het |
Zdhhc8 |
A |
T |
16: 18,046,254 (GRCm39) |
M103K |
probably damaging |
Het |
Zfp595 |
C |
T |
13: 67,465,369 (GRCm39) |
G298E |
probably damaging |
Het |
Zfp738 |
T |
G |
13: 67,818,140 (GRCm39) |
H617P |
possibly damaging |
Het |
Zfp9 |
A |
T |
6: 118,442,163 (GRCm39) |
H166Q |
probably damaging |
Het |
Zp3r |
C |
A |
1: 130,546,071 (GRCm39) |
D80Y |
probably 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 |
R0084:Ncapd3
|
UTSW |
9 |
26,967,407 (GRCm39) |
missense |
probably damaging |
0.98 |
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'- GGCTCATCATAAGCTAGAGGCTGC -3'
(R):5'- ACTCTGCTGTGGAACACATCCGTC -3'
Sequencing Primer
(F):5'- ttgttttggttttccttttgtttttg -3'
(R):5'- cacacacacacacacacac -3'
|
Posted On |
2013-05-23 |