Incidental Mutation 'R4980:Ncapd3'
ID |
384755 |
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 |
042575-MU
|
Accession Numbers |
|
Essential gene? |
Probably essential
(E-score: 0.962)
|
Stock # |
R4980 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
9 |
Chromosomal Location |
26941471-27006611 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 26974591 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Serine to Proline
at position 688
(S688P)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000083374
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000073127]
[ENSMUST00000086198]
[ENSMUST00000216677]
|
AlphaFold |
no structure available at present |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000073127
AA Change: S688P
PolyPhen 2
Score 0.468 (Sensitivity: 0.89; Specificity: 0.90)
|
SMART Domains |
Protein: ENSMUSP00000072871 Gene: ENSMUSG00000035024 AA Change: S688P
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: S688P
PolyPhen 2
Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
|
SMART Domains |
Protein: ENSMUSP00000083374 Gene: ENSMUSG00000035024 AA Change: S688P
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 |
possibly damaging
Transcript: ENSMUST00000216677
AA Change: S688P
PolyPhen 2
Score 0.468 (Sensitivity: 0.89; Specificity: 0.90)
|
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 96.8%
- 20x: 93.8%
|
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: 70 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4930522L14Rik |
A |
T |
5: 109,885,292 (GRCm39) |
C189S |
probably damaging |
Het |
Abcd3 |
A |
T |
3: 121,562,917 (GRCm39) |
|
probably null |
Het |
Adar |
T |
C |
3: 89,638,121 (GRCm39) |
S2P |
probably benign |
Het |
Amhr2 |
T |
A |
15: 102,362,765 (GRCm39) |
S511T |
probably benign |
Het |
Atg16l1 |
T |
C |
1: 87,694,553 (GRCm39) |
S77P |
possibly damaging |
Het |
Bltp1 |
T |
C |
3: 36,997,461 (GRCm39) |
S1173P |
probably damaging |
Het |
Cacna1i |
T |
C |
15: 80,232,650 (GRCm39) |
F218L |
probably damaging |
Het |
Cd5l |
A |
T |
3: 87,274,908 (GRCm39) |
H149L |
probably benign |
Het |
Cdc14a |
T |
A |
3: 116,186,506 (GRCm39) |
R92* |
probably null |
Het |
Col19a1 |
T |
C |
1: 24,565,564 (GRCm39) |
T256A |
unknown |
Het |
Col22a1 |
C |
T |
15: 71,673,792 (GRCm39) |
A975T |
unknown |
Het |
Cracd |
A |
T |
5: 77,005,421 (GRCm39) |
D594V |
unknown |
Het |
Cyp20a1 |
T |
C |
1: 60,402,373 (GRCm39) |
W153R |
probably damaging |
Het |
Dnase1l1 |
C |
T |
X: 73,320,644 (GRCm39) |
|
probably null |
Homo |
Dpyd |
T |
C |
3: 118,710,767 (GRCm39) |
S392P |
probably damaging |
Het |
Dst |
A |
T |
1: 34,295,369 (GRCm39) |
L957F |
probably damaging |
Het |
Emilin2 |
G |
T |
17: 71,560,066 (GRCm39) |
D970E |
possibly damaging |
Het |
Fbn2 |
T |
C |
18: 58,143,703 (GRCm39) |
E2784G |
probably benign |
Het |
Fbxw10 |
T |
C |
11: 62,738,583 (GRCm39) |
I159T |
possibly damaging |
Het |
Fgfr2 |
T |
C |
7: 129,802,810 (GRCm39) |
Y192C |
probably damaging |
Het |
Gm7298 |
A |
G |
6: 121,736,198 (GRCm39) |
|
probably null |
Het |
Igf2r |
C |
T |
17: 12,922,247 (GRCm39) |
|
probably null |
Het |
Ints4 |
T |
C |
7: 97,151,057 (GRCm39) |
|
probably null |
Het |
Kcnf1 |
A |
G |
12: 17,225,012 (GRCm39) |
F403S |
possibly damaging |
Het |
Kif11 |
C |
T |
19: 37,375,819 (GRCm39) |
Q211* |
probably null |
Het |
Kif13a |
A |
G |
13: 46,906,222 (GRCm39) |
S574P |
possibly damaging |
Het |
Kifc3 |
T |
A |
8: 95,853,177 (GRCm39) |
T60S |
probably benign |
Het |
Krt82 |
T |
C |
15: 101,453,534 (GRCm39) |
D284G |
possibly damaging |
Het |
Lancl1 |
T |
C |
1: 67,043,968 (GRCm39) |
Y344C |
probably benign |
Het |
Ltbp3 |
A |
T |
19: 5,803,955 (GRCm39) |
|
probably null |
Het |
Map3k4 |
A |
G |
17: 12,490,958 (GRCm39) |
F158L |
probably damaging |
Het |
Mast2 |
A |
G |
4: 116,174,948 (GRCm39) |
Y469H |
probably damaging |
Het |
Mcf2l |
T |
G |
8: 13,034,883 (GRCm39) |
F97C |
probably damaging |
Het |
Mpeg1 |
T |
C |
19: 12,438,904 (GRCm39) |
S121P |
probably damaging |
Het |
Mycbp2 |
A |
T |
14: 103,497,821 (GRCm39) |
|
probably null |
Het |
Myt1l |
A |
T |
12: 29,877,038 (GRCm39) |
T230S |
unknown |
Het |
Naa15 |
T |
C |
3: 51,366,173 (GRCm39) |
|
probably null |
Het |
Nans |
G |
A |
4: 46,492,764 (GRCm39) |
R64Q |
probably benign |
Het |
Nbea |
C |
T |
3: 55,554,772 (GRCm39) |
|
probably null |
Het |
Nbea |
T |
C |
3: 55,860,466 (GRCm39) |
E1870G |
probably benign |
Het |
Nedd4l |
G |
T |
18: 65,213,131 (GRCm39) |
E96* |
probably null |
Het |
Or56a5 |
T |
A |
7: 104,793,431 (GRCm39) |
Y23F |
probably benign |
Het |
Or5b21 |
A |
T |
19: 12,839,384 (GRCm39) |
M82L |
probably benign |
Het |
Pdxk |
A |
G |
10: 78,287,318 (GRCm39) |
L81P |
probably damaging |
Het |
Plec |
T |
A |
15: 76,077,495 (GRCm39) |
R269* |
probably null |
Het |
Plec |
T |
C |
15: 76,090,065 (GRCm39) |
I92V |
probably damaging |
Het |
Ppara |
T |
C |
15: 85,671,434 (GRCm39) |
Y112H |
probably damaging |
Het |
Ppp2r2c |
A |
T |
5: 37,109,732 (GRCm39) |
M364L |
probably benign |
Het |
Prag1 |
A |
C |
8: 36,606,740 (GRCm39) |
H827P |
probably damaging |
Het |
Ptprg |
A |
G |
14: 12,154,421 (GRCm38) |
N714S |
probably benign |
Het |
Rbp2 |
G |
A |
9: 98,380,894 (GRCm39) |
V67I |
probably benign |
Het |
Rictor |
T |
A |
15: 6,811,141 (GRCm39) |
Y835N |
probably damaging |
Het |
Ripply2 |
A |
G |
9: 86,901,747 (GRCm39) |
Q91R |
probably damaging |
Het |
Sap130 |
C |
A |
18: 31,782,699 (GRCm39) |
H203Q |
possibly damaging |
Het |
Sema4d |
T |
C |
13: 51,865,270 (GRCm39) |
Y358C |
probably damaging |
Het |
Serbp1 |
G |
A |
6: 67,254,872 (GRCm39) |
D294N |
probably benign |
Het |
Slc16a10 |
A |
G |
10: 39,956,801 (GRCm39) |
W113R |
probably damaging |
Het |
Slc6a6 |
A |
G |
6: 91,703,041 (GRCm39) |
Y138C |
probably damaging |
Het |
Spag11a |
T |
C |
8: 19,207,962 (GRCm39) |
M1T |
probably null |
Het |
Spata20 |
T |
C |
11: 94,375,435 (GRCm39) |
M120V |
probably damaging |
Het |
Stk32a |
A |
C |
18: 43,447,113 (GRCm39) |
K357Q |
probably benign |
Het |
Tasor |
T |
A |
14: 27,183,382 (GRCm39) |
L614I |
probably benign |
Het |
Trmo |
A |
T |
4: 46,389,364 (GRCm39) |
C10* |
probably null |
Het |
Tsc22d1 |
T |
G |
14: 76,655,696 (GRCm39) |
V643G |
probably benign |
Het |
Vangl2 |
A |
T |
1: 171,837,132 (GRCm39) |
L226I |
probably damaging |
Het |
Vps35l |
T |
A |
7: 118,406,232 (GRCm39) |
D605E |
probably damaging |
Het |
Wnt3a |
A |
T |
11: 59,140,626 (GRCm39) |
C297S |
probably damaging |
Het |
Wwc1 |
T |
C |
11: 35,778,930 (GRCm39) |
K301E |
possibly damaging |
Het |
Zfhx4 |
C |
T |
3: 5,464,039 (GRCm39) |
T1399I |
possibly damaging |
Het |
Zswim4 |
C |
T |
8: 84,953,296 (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 |
|
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 |
|
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'- GGTATCAGACATCCAAAGAGCCAG -3'
(R):5'- TAGGCCAGAGCTTTGCTTCC -3'
Sequencing Primer
(F):5'- AGCCAGACTCGCTGCATG -3'
(R):5'- GGCTACTTTGTAAGCGTGCAAAC -3'
|
Posted On |
2016-05-10 |