Incidental Mutation 'R7655:Ncapd3'
| ID |
591140 |
| 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 |
045731-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.962)
|
| Stock # |
R7655 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
9 |
| Chromosomal Location |
26941471-27006611 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 26966801 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Asparagine
at position 545
(I545N)
|
| 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: I545N
PolyPhen 2
Score 0.423 (Sensitivity: 0.89; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000072871
Gene: ENSMUSG00000035024
AA Change: I545N
| 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: I545N
PolyPhen 2
Score 0.468 (Sensitivity: 0.89; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000083374
Gene: ENSMUSG00000035024
AA Change: I545N
| 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: I545N
PolyPhen 2
Score 0.423 (Sensitivity: 0.89; Specificity: 0.90)
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 98.9%
|
| 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: 63 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abitram |
A |
G |
4: 56,804,218 (GRCm39) |
I78V |
probably benign |
Het |
| Acot2 |
A |
G |
12: 84,039,691 (GRCm39) |
Y400C |
probably benign |
Het |
| Agbl1 |
A |
G |
7: 76,059,080 (GRCm39) |
M237V |
|
Het |
| Atrnl1 |
C |
A |
19: 57,599,811 (GRCm39) |
S9* |
probably null |
Het |
| BC031181 |
A |
T |
18: 75,142,406 (GRCm39) |
K71* |
probably null |
Het |
| Bmal2 |
A |
G |
6: 146,707,940 (GRCm39) |
T21A |
probably benign |
Het |
| Brpf1 |
A |
T |
6: 113,291,835 (GRCm39) |
M294L |
probably benign |
Het |
| Camk2g |
T |
G |
14: 20,789,410 (GRCm39) |
D382A |
possibly damaging |
Het |
| Ccdc33 |
T |
A |
9: 58,025,748 (GRCm39) |
R94W |
probably damaging |
Het |
| Cd244a |
T |
A |
1: 171,404,823 (GRCm39) |
L225Q |
probably damaging |
Het |
| Chsy1 |
G |
T |
7: 65,820,778 (GRCm39) |
V338F |
probably damaging |
Het |
| Col14a1 |
A |
G |
15: 55,225,846 (GRCm39) |
I170V |
unknown |
Het |
| Col6a2 |
G |
T |
10: 76,443,590 (GRCm39) |
Q492K |
probably benign |
Het |
| Dnah12 |
G |
T |
14: 26,581,273 (GRCm39) |
V3168L |
probably benign |
Het |
| Dnah7a |
T |
C |
1: 53,535,164 (GRCm39) |
S2699G |
possibly damaging |
Het |
| Fsip2 |
A |
G |
2: 82,807,886 (GRCm39) |
K1402E |
possibly damaging |
Het |
| Ghdc |
C |
T |
11: 100,660,493 (GRCm39) |
A127T |
probably benign |
Het |
| Glp1r |
T |
C |
17: 31,149,572 (GRCm39) |
|
probably null |
Het |
| Gm19410 |
A |
T |
8: 36,276,253 (GRCm39) |
M1637L |
probably benign |
Het |
| Grm5 |
T |
G |
7: 87,779,459 (GRCm39) |
D998E |
probably benign |
Het |
| Krtcap3 |
A |
G |
5: 31,409,904 (GRCm39) |
T157A |
probably damaging |
Het |
| Luc7l2 |
A |
G |
6: 38,580,399 (GRCm39) |
R333G |
unknown |
Het |
| Mdc1 |
T |
G |
17: 36,161,773 (GRCm39) |
S895R |
probably benign |
Het |
| Mef2a |
G |
A |
7: 66,945,142 (GRCm39) |
T80M |
probably damaging |
Het |
| Mitd1 |
T |
A |
1: 37,924,356 (GRCm39) |
I65F |
probably benign |
Het |
| Mms19 |
A |
G |
19: 41,933,011 (GRCm39) |
L1026P |
probably damaging |
Het |
| Mtbp |
G |
T |
15: 55,472,922 (GRCm39) |
V629L |
unknown |
Het |
| Nin |
G |
A |
12: 70,089,542 (GRCm39) |
T1291M |
|
Het |
| Or10z1 |
T |
A |
1: 174,077,784 (GRCm39) |
K236N |
probably damaging |
Het |
| Or5b123 |
A |
T |
19: 13,597,197 (GRCm39) |
I181F |
probably damaging |
Het |
| Orc3 |
G |
T |
4: 34,587,032 (GRCm39) |
C352* |
probably null |
Het |
| Oxct2b |
G |
A |
4: 123,011,550 (GRCm39) |
G490D |
probably benign |
Het |
| Pcdhb16 |
A |
T |
18: 37,612,458 (GRCm39) |
T473S |
probably benign |
Het |
| Phkg2 |
G |
A |
7: 127,182,074 (GRCm39) |
G365D |
probably damaging |
Het |
| Pira1 |
T |
C |
7: 3,742,281 (GRCm39) |
E82G |
probably damaging |
Het |
| Ppp2r3d |
A |
T |
9: 101,088,911 (GRCm39) |
F471I |
probably benign |
Het |
| Prl3d1 |
T |
C |
13: 27,284,018 (GRCm39) |
C196R |
possibly damaging |
Het |
| Prmt1 |
A |
T |
7: 44,633,552 (GRCm39) |
F14L |
probably benign |
Het |
| Prox1 |
A |
G |
1: 189,894,418 (GRCm39) |
L9P |
probably damaging |
Het |
| Ptpn13 |
T |
A |
5: 103,688,849 (GRCm39) |
F881I |
probably benign |
Het |
| Rab3ip |
A |
G |
10: 116,750,044 (GRCm39) |
I363T |
probably benign |
Het |
| Rapgef3 |
T |
C |
15: 97,659,090 (GRCm39) |
E134G |
probably damaging |
Het |
| Rapgef6 |
C |
T |
11: 54,585,279 (GRCm39) |
P1559L |
probably benign |
Het |
| Rnf180 |
T |
C |
13: 105,304,096 (GRCm39) |
K507E |
probably damaging |
Het |
| Rpl3l |
T |
C |
17: 24,949,960 (GRCm39) |
I53T |
probably benign |
Het |
| Rtl1 |
T |
C |
12: 109,557,442 (GRCm39) |
I1466V |
unknown |
Het |
| Saxo2 |
A |
G |
7: 82,284,559 (GRCm39) |
Y100H |
probably damaging |
Het |
| Selenoh |
G |
T |
2: 84,500,724 (GRCm39) |
R39S |
probably damaging |
Het |
| Sgsm2 |
A |
G |
11: 74,756,323 (GRCm39) |
V342A |
probably damaging |
Het |
| Slc26a9 |
T |
A |
1: 131,690,982 (GRCm39) |
F587I |
possibly damaging |
Het |
| Smoc1 |
A |
T |
12: 81,152,682 (GRCm39) |
Q91L |
possibly damaging |
Het |
| Spag9 |
A |
C |
11: 93,887,389 (GRCm39) |
H98P |
possibly damaging |
Het |
| Spata31e3 |
T |
G |
13: 50,401,122 (GRCm39) |
K401N |
probably benign |
Het |
| T2 |
T |
A |
17: 8,637,047 (GRCm39) |
C337* |
probably null |
Het |
| Tbc1d19 |
A |
G |
5: 54,054,377 (GRCm39) |
Y455C |
probably damaging |
Het |
| Thbd |
A |
G |
2: 148,249,340 (GRCm39) |
L176P |
probably damaging |
Het |
| Tmem116 |
A |
G |
5: 121,590,252 (GRCm39) |
|
probably null |
Het |
| Tmem25 |
C |
T |
9: 44,709,640 (GRCm39) |
V54I |
possibly damaging |
Het |
| Trpm4 |
C |
T |
7: 44,971,233 (GRCm39) |
V378I |
probably benign |
Het |
| Trrap |
G |
T |
5: 144,779,422 (GRCm39) |
W3129C |
probably damaging |
Het |
| Ttn |
A |
T |
2: 76,558,660 (GRCm39) |
D29740E |
probably damaging |
Het |
| Vcan |
C |
T |
13: 89,833,233 (GRCm39) |
C3073Y |
probably damaging |
Het |
| Xrra1 |
T |
A |
7: 99,560,189 (GRCm39) |
D388E |
probably benign |
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 |
|
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'- ACCTCATCAGATCTTTAAAAGGCC -3'
(R):5'- AGCCACCAAGTAATTTGAAAGC -3'
Sequencing Primer
(F):5'- AGGCCTCTAGGTCATGATAAGTC -3'
(R):5'- GCTTAAAAATTAGCAAGCTCTTCTAG -3'
|
| Posted On |
2019-11-12 |
Incidental Mutation