Incidental Mutation 'R6862:Ncapd3'
| ID |
535702 |
| 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 |
045026-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.963)
|
| Stock # |
R6862 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
9 |
| Chromosomal Location |
26941471-27006611 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 26942105 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Cysteine to Arginine
at position 14
(C14R)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000150938
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000034470]
[ENSMUST00000073127]
[ENSMUST00000086198]
[ENSMUST00000216677]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000034470
|
| SMART Domains |
Protein: ENSMUSP00000034470
Gene: ENSMUSG00000031988
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Vps26
|
6 |
281 |
1e-135 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000073127
AA Change: C14R
PolyPhen 2
Score 0.984 (Sensitivity: 0.74; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000072871
Gene: ENSMUSG00000035024
AA Change: C14R
| 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: C14R
PolyPhen 2
Score 0.969 (Sensitivity: 0.77; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000083374
Gene: ENSMUSG00000035024
AA Change: C14R
| 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: C14R
PolyPhen 2
Score 0.984 (Sensitivity: 0.74; Specificity: 0.96)
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.4%
- 20x: 98.0%
|
| Validation Efficiency |
98% (57/58) |
| 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: 61 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930579F01Rik |
C |
T |
3: 137,891,949 (GRCm39) |
|
probably benign |
Het |
| Adgra2 |
T |
A |
8: 27,603,465 (GRCm39) |
C417S |
probably damaging |
Het |
| Adgra2 |
C |
A |
8: 27,603,464 (GRCm39) |
H416Q |
probably benign |
Het |
| Aff3 |
C |
A |
1: 38,445,578 (GRCm39) |
R307L |
possibly damaging |
Het |
| Arhgap17 |
T |
C |
7: 122,921,124 (GRCm39) |
D121G |
probably damaging |
Het |
| Ascc3 |
G |
T |
10: 50,725,742 (GRCm39) |
R2155I |
probably null |
Het |
| Ccdc115 |
C |
T |
1: 34,478,364 (GRCm39) |
S19N |
possibly damaging |
Het |
| Ccser2 |
T |
C |
14: 36,662,038 (GRCm39) |
N382S |
probably benign |
Het |
| Cct6b |
A |
T |
11: 82,610,785 (GRCm39) |
V500E |
probably damaging |
Het |
| Cenpo |
A |
T |
12: 4,266,539 (GRCm39) |
Y190N |
probably damaging |
Het |
| Cfh |
T |
A |
1: 140,030,100 (GRCm39) |
K924N |
probably damaging |
Het |
| Col4a1 |
A |
G |
8: 11,252,926 (GRCm39) |
|
probably benign |
Het |
| Coro1b |
T |
C |
19: 4,200,770 (GRCm39) |
V234A |
probably benign |
Het |
| Crot |
T |
C |
5: 9,039,641 (GRCm39) |
K69E |
probably damaging |
Het |
| Cyp2d11 |
A |
T |
15: 82,274,339 (GRCm39) |
H347Q |
probably benign |
Het |
| Efcab3 |
A |
T |
11: 104,612,284 (GRCm39) |
K636* |
probably null |
Het |
| Fbn2 |
T |
A |
18: 58,257,393 (GRCm39) |
I325F |
probably benign |
Het |
| Fbxw4 |
T |
A |
19: 45,571,187 (GRCm39) |
R41S |
probably benign |
Het |
| Fn1 |
T |
A |
1: 71,653,066 (GRCm39) |
I1308F |
probably benign |
Het |
| Frem1 |
C |
A |
4: 82,930,251 (GRCm39) |
E232* |
probably null |
Het |
| Gabrg3 |
T |
C |
7: 56,423,059 (GRCm39) |
Q213R |
possibly damaging |
Het |
| Garin3 |
G |
A |
11: 46,298,418 (GRCm39) |
G574D |
possibly damaging |
Het |
| Gsdme |
A |
T |
6: 50,204,378 (GRCm39) |
V193E |
probably damaging |
Het |
| Hadha |
C |
A |
5: 30,352,977 (GRCm39) |
|
probably null |
Het |
| Hdgfl2 |
C |
A |
17: 56,406,211 (GRCm39) |
A533E |
probably damaging |
Het |
| Hivep2 |
T |
C |
10: 14,006,327 (GRCm39) |
F975S |
probably damaging |
Het |
| Htatip2 |
T |
A |
7: 49,420,666 (GRCm39) |
S171T |
probably benign |
Het |
| Ift57 |
A |
T |
16: 49,584,167 (GRCm39) |
I307F |
possibly damaging |
Het |
| Il22 |
A |
T |
10: 118,041,715 (GRCm39) |
R110W |
probably benign |
Het |
| Kcnk13 |
G |
T |
12: 100,027,948 (GRCm39) |
R341L |
probably damaging |
Het |
| Kif2b |
G |
A |
11: 91,466,741 (GRCm39) |
T514M |
probably damaging |
Het |
| Kmt2c |
A |
C |
5: 25,515,515 (GRCm39) |
I2776S |
probably damaging |
Het |
| Ly9 |
T |
C |
1: 171,428,723 (GRCm39) |
D189G |
probably benign |
Het |
| Mal2 |
T |
C |
15: 54,451,753 (GRCm39) |
V58A |
probably damaging |
Het |
| Mettl21e |
T |
A |
1: 44,245,526 (GRCm39) |
N240I |
probably benign |
Het |
| Msantd5f1 |
A |
G |
4: 73,605,621 (GRCm39) |
N344S |
probably benign |
Het |
| Muc5ac |
C |
T |
7: 141,363,481 (GRCm39) |
|
probably benign |
Het |
| Nacc1 |
G |
A |
8: 85,399,844 (GRCm39) |
R458C |
probably damaging |
Het |
| Obscn |
G |
T |
11: 58,886,279 (GRCm39) |
|
probably benign |
Het |
| Or13c3 |
A |
G |
4: 52,855,695 (GRCm39) |
F273L |
probably benign |
Het |
| Or1j4 |
A |
T |
2: 36,740,234 (GRCm39) |
M59L |
possibly damaging |
Het |
| Or8d23 |
T |
A |
9: 38,841,772 (GRCm39) |
F102I |
possibly damaging |
Het |
| Parp12 |
T |
C |
6: 39,088,670 (GRCm39) |
I189V |
probably benign |
Het |
| Pde4dip |
C |
A |
3: 97,674,340 (GRCm39) |
R192L |
possibly damaging |
Het |
| Pdlim4 |
C |
A |
11: 53,946,674 (GRCm39) |
E204D |
probably damaging |
Het |
| Phf3 |
T |
C |
1: 30,853,063 (GRCm39) |
Q1049R |
probably damaging |
Het |
| Prr14l |
A |
G |
5: 32,985,103 (GRCm39) |
L1464P |
probably damaging |
Het |
| Psg25 |
C |
T |
7: 18,255,323 (GRCm39) |
V398I |
probably benign |
Het |
| Ptprq |
T |
A |
10: 107,522,086 (GRCm39) |
N622Y |
probably damaging |
Het |
| Rsf1 |
CG |
CGACGGCGGTG |
7: 97,229,115 (GRCm39) |
|
probably benign |
Het |
| Tex36 |
A |
G |
7: 133,189,002 (GRCm39) |
L190P |
probably benign |
Het |
| Tk1 |
A |
G |
11: 117,707,320 (GRCm39) |
C156R |
probably damaging |
Het |
| Tmem144 |
T |
A |
3: 79,739,406 (GRCm39) |
M126L |
probably benign |
Het |
| Tmem208 |
G |
A |
8: 106,054,862 (GRCm39) |
|
probably null |
Het |
| Trappc13 |
T |
C |
13: 104,286,660 (GRCm39) |
Q199R |
probably damaging |
Het |
| Trim30b |
T |
A |
7: 104,012,960 (GRCm39) |
K156N |
probably damaging |
Het |
| Trps1 |
A |
G |
15: 50,695,001 (GRCm39) |
|
probably null |
Het |
| Washc4 |
T |
A |
10: 83,394,757 (GRCm39) |
F329Y |
possibly damaging |
Het |
| Zbed5 |
T |
G |
5: 129,932,026 (GRCm39) |
D658E |
probably benign |
Het |
| Zfyve28 |
T |
G |
5: 34,445,449 (GRCm39) |
K11N |
probably benign |
Het |
| Zp1 |
C |
T |
19: 10,893,877 (GRCm39) |
V443I |
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 |
|
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 |
|
|
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'- ATTGGCTTGGGTTACGAACAC -3'
(R):5'- CCAATTACTCGTCTGGACTCAG -3'
Sequencing Primer
(F):5'- TTGGGTTACGAACACGGCTC -3'
(R):5'- AGATCCCACCGTAAGTTTGG -3'
|
| Posted On |
2018-10-18 |
Incidental Mutation