Incidental Mutation 'R9688:Ncapd3'
ID |
728985 |
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 |
|
Accession Numbers |
|
Essential gene? |
Probably essential
(E-score: 0.962)
|
Stock # |
R9688 (G1)
|
Quality Score |
225.009 |
Status
|
Not validated
|
Chromosome |
9 |
Chromosomal Location |
26941471-27006611 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 26967349 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Serine to Glycine
at position 562
(S562G)
|
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: S562G
PolyPhen 2
Score 0.023 (Sensitivity: 0.95; Specificity: 0.81)
|
SMART Domains |
Protein: ENSMUSP00000072871 Gene: ENSMUSG00000035024 AA Change: S562G
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
AA Change: S562G
PolyPhen 2
Score 0.014 (Sensitivity: 0.96; Specificity: 0.79)
|
SMART Domains |
Protein: ENSMUSP00000083374 Gene: ENSMUSG00000035024 AA Change: S562G
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: S562G
PolyPhen 2
Score 0.023 (Sensitivity: 0.95; Specificity: 0.81)
|
Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.8%
- 20x: 99.3%
|
Validation Efficiency |
|
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: 69 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
1700093K21Rik |
A |
G |
11: 23,469,067 (GRCm39) |
|
probably null |
Het |
Abca2 |
G |
C |
2: 25,324,459 (GRCm39) |
A272P |
possibly damaging |
Het |
Adarb1 |
T |
A |
10: 77,147,099 (GRCm39) |
D479V |
probably damaging |
Het |
Amz2 |
T |
C |
11: 109,320,765 (GRCm39) |
F162S |
probably damaging |
Het |
Ano4 |
A |
T |
10: 89,180,506 (GRCm39) |
M1K |
probably null |
Het |
Antxr1 |
G |
A |
6: 87,114,334 (GRCm39) |
R478C |
probably damaging |
Het |
Apobr |
T |
C |
7: 126,186,663 (GRCm39) |
S725P |
probably benign |
Het |
Arap2 |
A |
T |
5: 62,872,109 (GRCm39) |
D506E |
probably damaging |
Het |
Ash1l |
T |
G |
3: 88,892,024 (GRCm39) |
I1301S |
probably damaging |
Het |
Camk1g |
T |
A |
1: 193,031,029 (GRCm39) |
R305W |
probably damaging |
Het |
Ces2g |
A |
T |
8: 105,691,304 (GRCm39) |
I147F |
probably benign |
Het |
Cfap61 |
T |
C |
2: 145,878,758 (GRCm39) |
F505L |
probably damaging |
Het |
Cndp1 |
G |
C |
18: 84,655,982 (GRCm39) |
N62K |
probably benign |
Het |
Cog6 |
G |
T |
3: 52,916,528 (GRCm39) |
Q214K |
probably benign |
Het |
Depdc5 |
T |
A |
5: 33,055,276 (GRCm39) |
Y226* |
probably null |
Het |
Elp5 |
T |
A |
11: 69,861,425 (GRCm39) |
I185F |
probably damaging |
Het |
Ercc6 |
A |
C |
14: 32,297,755 (GRCm39) |
H1334P |
probably benign |
Het |
Ern1 |
T |
C |
11: 106,349,836 (GRCm39) |
T27A |
possibly damaging |
Het |
Esf1 |
A |
T |
2: 140,010,095 (GRCm39) |
D80E |
probably damaging |
Het |
Evpl |
T |
C |
11: 116,124,986 (GRCm39) |
K159E |
probably damaging |
Het |
Gbx1 |
T |
C |
5: 24,731,510 (GRCm39) |
Y102C |
probably damaging |
Het |
Gjd2 |
A |
G |
2: 113,842,109 (GRCm39) |
S123P |
probably benign |
Het |
H2-M11 |
A |
G |
17: 36,859,054 (GRCm39) |
Y198C |
probably damaging |
Het |
Hps1 |
A |
C |
19: 42,755,147 (GRCm39) |
V265G |
probably benign |
Het |
Ifna16 |
C |
A |
4: 88,594,874 (GRCm39) |
E74* |
probably null |
Het |
Inca1 |
C |
T |
11: 70,579,810 (GRCm39) |
|
probably null |
Het |
Jag2 |
A |
G |
12: 112,872,564 (GRCm39) |
V1230A |
probably benign |
Het |
Jam3 |
G |
A |
9: 27,010,204 (GRCm39) |
T260M |
probably benign |
Het |
Klhl5 |
A |
T |
5: 65,321,930 (GRCm39) |
D652V |
probably damaging |
Het |
L3mbtl1 |
A |
T |
2: 162,790,697 (GRCm39) |
I81L |
possibly damaging |
Het |
Lgalsl |
C |
T |
11: 20,779,442 (GRCm39) |
A68T |
probably benign |
Het |
Map3k14 |
T |
A |
11: 103,130,059 (GRCm39) |
D286V |
possibly damaging |
Het |
Mdn1 |
A |
G |
4: 32,745,590 (GRCm39) |
I4083V |
probably damaging |
Het |
Ms4a5 |
T |
C |
19: 11,254,058 (GRCm39) |
I136M |
possibly damaging |
Het |
Mtcl3 |
T |
C |
10: 29,072,691 (GRCm39) |
V661A |
possibly damaging |
Het |
Naa16 |
A |
T |
14: 79,573,309 (GRCm39) |
Y820* |
probably null |
Het |
Nbea |
G |
T |
3: 55,557,165 (GRCm39) |
N2537K |
probably benign |
Het |
Or5t5 |
A |
C |
2: 86,617,005 (GRCm39) |
K310N |
probably damaging |
Het |
Or6c1b |
C |
A |
10: 129,272,967 (GRCm39) |
C95* |
probably null |
Het |
Pcdhac2 |
A |
G |
18: 37,277,628 (GRCm39) |
S203G |
probably benign |
Het |
Pds5a |
A |
T |
5: 65,812,196 (GRCm39) |
F309I |
probably benign |
Het |
Pdzd8 |
G |
A |
19: 59,333,683 (GRCm39) |
L113F |
probably benign |
Het |
Pex12 |
T |
C |
11: 83,189,257 (GRCm39) |
Y4C |
possibly damaging |
Het |
Ppfibp2 |
A |
G |
7: 107,318,448 (GRCm39) |
D332G |
probably benign |
Het |
Psg23 |
A |
T |
7: 18,344,547 (GRCm39) |
W303R |
probably damaging |
Het |
Pyy |
T |
A |
11: 101,998,099 (GRCm39) |
D27V |
probably damaging |
Het |
Rc3h1 |
A |
G |
1: 160,770,234 (GRCm39) |
Q302R |
probably damaging |
Het |
Rhoh |
A |
G |
5: 66,049,656 (GRCm39) |
|
probably benign |
Het |
Samd9l |
A |
G |
6: 3,377,087 (GRCm39) |
M58T |
probably damaging |
Het |
Scaf11 |
A |
C |
15: 96,313,808 (GRCm39) |
H1324Q |
probably damaging |
Het |
Serinc2 |
C |
A |
4: 130,158,133 (GRCm39) |
A105S |
probably damaging |
Het |
Setx |
A |
T |
2: 29,036,328 (GRCm39) |
S938C |
probably damaging |
Het |
Sgo2a |
A |
T |
1: 58,056,737 (GRCm39) |
T974S |
probably damaging |
Het |
Sh3rf1 |
T |
C |
8: 61,679,348 (GRCm39) |
V130A |
probably benign |
Het |
Slc43a2 |
T |
C |
11: 75,434,112 (GRCm39) |
F97L |
probably damaging |
Het |
Slc9a9 |
C |
A |
9: 95,111,107 (GRCm39) |
Q642K |
probably benign |
Het |
Sox6 |
G |
T |
7: 115,076,225 (GRCm39) |
D804E |
probably benign |
Het |
Tbx15 |
A |
T |
3: 99,233,708 (GRCm39) |
R290S |
possibly damaging |
Het |
Tent4a |
A |
G |
13: 69,655,199 (GRCm39) |
L425P |
probably damaging |
Het |
Terf2 |
A |
G |
8: 107,821,543 (GRCm39) |
S176P |
probably damaging |
Het |
Ttc6 |
A |
T |
12: 57,720,602 (GRCm39) |
H956L |
possibly damaging |
Het |
Tti2 |
T |
C |
8: 31,644,279 (GRCm39) |
V292A |
probably damaging |
Het |
Vmn1r29 |
A |
T |
6: 58,284,739 (GRCm39) |
E153V |
probably benign |
Het |
Vmn1r55 |
G |
T |
7: 5,149,669 (GRCm39) |
H251Q |
probably benign |
Het |
Yeats4 |
T |
C |
10: 117,051,586 (GRCm39) |
T224A |
probably benign |
Het |
Yipf4 |
T |
A |
17: 74,806,078 (GRCm39) |
F239Y |
probably benign |
Het |
Zan |
T |
C |
5: 137,466,717 (GRCm39) |
D380G |
probably damaging |
Het |
Zbtb9 |
T |
C |
17: 27,193,894 (GRCm39) |
F433S |
probably damaging |
Het |
Zic5 |
T |
C |
14: 122,701,435 (GRCm39) |
K432R |
unknown |
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 |
|
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 |
|
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'- CAGACCACCTTTCATTTCAGTAG -3'
(R):5'- GCCTGAAGCCTACTACGAGTAC -3'
Sequencing Primer
(F):5'- GACCACCTTTCATTTCAGTAGATTTG -3'
(R):5'- GAACTGCTTCTGATGCAAGGCAC -3'
|
Posted On |
2022-10-06 |