Incidental Mutation 'R4572:Ncapd3'
ID |
342203 |
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 |
041796-MU
|
Accession Numbers |
|
Essential gene? |
Probably essential
(E-score: 0.962)
|
Stock # |
R4572 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
9 |
Chromosomal Location |
26941471-27006611 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 27005911 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Aspartic acid to Glycine
at position 1469
(D1469G)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000150938
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000034472]
[ENSMUST00000073127]
[ENSMUST00000086198]
[ENSMUST00000216677]
|
AlphaFold |
no structure available at present |
Predicted Effect |
probably benign
Transcript: ENSMUST00000034472
|
SMART Domains |
Protein: ENSMUSP00000034472 Gene: ENSMUSG00000031990
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
31 |
N/A |
INTRINSIC |
IG
|
38 |
136 |
2.7e-9 |
SMART |
IGc2
|
151 |
226 |
8.12e-13 |
SMART |
transmembrane domain
|
245 |
267 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000073127
AA Change: D1469G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000072871 Gene: ENSMUSG00000035024 AA Change: D1469G
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
|
SMART Domains |
Protein: ENSMUSP00000083374 Gene: ENSMUSG00000035024
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 |
noncoding transcript
Transcript: ENSMUST00000214432
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000216677
AA Change: D1469G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000217654
|
Meta Mutation Damage Score |
0.0780 |
Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.6%
- 10x: 97.2%
- 20x: 95.0%
|
Validation Efficiency |
100% (71/71) |
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: 65 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abca6 |
A |
T |
11: 110,107,374 (GRCm39) |
I747N |
probably benign |
Het |
Adamtsl2 |
A |
G |
2: 26,973,268 (GRCm39) |
Y97C |
probably damaging |
Het |
Alox12e |
A |
G |
11: 70,212,007 (GRCm39) |
|
probably benign |
Het |
Alpk2 |
A |
T |
18: 65,414,075 (GRCm39) |
S2014T |
probably damaging |
Het |
Ankrd36 |
A |
T |
11: 5,639,340 (GRCm39) |
|
probably null |
Het |
Apobec1 |
T |
C |
6: 122,558,356 (GRCm39) |
D133G |
probably damaging |
Het |
Arfgef1 |
A |
T |
1: 10,283,366 (GRCm39) |
I181N |
probably damaging |
Het |
Cilp2 |
A |
G |
8: 70,335,060 (GRCm39) |
V646A |
probably damaging |
Het |
Clasrp |
A |
G |
7: 19,318,389 (GRCm39) |
|
probably null |
Het |
Cnot2 |
T |
C |
10: 116,330,751 (GRCm39) |
T423A |
probably benign |
Het |
Crtap |
T |
C |
9: 114,213,874 (GRCm39) |
D227G |
probably benign |
Het |
Cyp17a1 |
A |
G |
19: 46,658,990 (GRCm39) |
F217S |
probably damaging |
Het |
Ddx60 |
A |
G |
8: 62,440,455 (GRCm39) |
M1036V |
probably damaging |
Het |
Dnah11 |
A |
T |
12: 117,973,860 (GRCm39) |
I2818N |
probably benign |
Het |
Dok6 |
T |
A |
18: 89,492,071 (GRCm39) |
I169F |
possibly damaging |
Het |
Duox2 |
T |
A |
2: 122,112,207 (GRCm39) |
R1326S |
probably benign |
Het |
Epha10 |
A |
G |
4: 124,796,361 (GRCm39) |
T357A |
unknown |
Het |
Ephb2 |
A |
C |
4: 136,383,251 (GRCm39) |
F942C |
probably damaging |
Het |
Fscn3 |
T |
A |
6: 28,430,634 (GRCm39) |
|
probably null |
Het |
Gabrb2 |
A |
G |
11: 42,484,744 (GRCm39) |
N267S |
possibly damaging |
Het |
Gabrr3 |
A |
T |
16: 59,282,001 (GRCm39) |
Y452F |
probably benign |
Het |
Gen1 |
A |
G |
12: 11,292,419 (GRCm39) |
S457P |
probably damaging |
Het |
Gm1993 |
C |
T |
X: 25,515,656 (GRCm39) |
R77H |
probably damaging |
Het |
Gm5592 |
G |
A |
7: 40,865,583 (GRCm39) |
|
probably benign |
Het |
Hmbox1 |
A |
G |
14: 65,140,682 (GRCm39) |
|
probably null |
Het |
Hus1 |
A |
T |
11: 8,957,617 (GRCm39) |
|
probably null |
Het |
Ino80 |
G |
A |
2: 119,232,839 (GRCm39) |
R1160W |
probably damaging |
Het |
Kalrn |
A |
T |
16: 34,212,412 (GRCm39) |
F27L |
probably damaging |
Het |
Kri1 |
A |
T |
9: 21,191,680 (GRCm39) |
F187L |
probably damaging |
Het |
Lekr1 |
A |
T |
3: 65,691,336 (GRCm39) |
|
noncoding transcript |
Het |
Mapk15 |
T |
C |
15: 75,870,599 (GRCm39) |
|
probably benign |
Het |
Mrgpre |
G |
A |
7: 143,334,841 (GRCm39) |
L221F |
probably damaging |
Het |
Mrpl50 |
A |
T |
4: 49,514,399 (GRCm39) |
S91T |
possibly damaging |
Het |
Muc4 |
T |
C |
16: 32,753,802 (GRCm38) |
I1226T |
probably benign |
Het |
Mup15 |
A |
G |
4: 61,356,454 (GRCm39) |
|
probably null |
Het |
Nlrp9b |
G |
A |
7: 19,760,606 (GRCm39) |
|
probably null |
Het |
Npy6r |
A |
T |
18: 44,408,984 (GRCm39) |
Y135F |
probably benign |
Het |
Or7e170 |
A |
C |
9: 19,795,275 (GRCm39) |
C109G |
probably benign |
Het |
Phf14 |
G |
A |
6: 12,006,823 (GRCm39) |
R825Q |
probably damaging |
Het |
Pigg |
A |
G |
5: 108,480,751 (GRCm39) |
M379V |
probably benign |
Het |
Plppr3 |
T |
A |
10: 79,701,897 (GRCm39) |
Q315L |
probably benign |
Het |
Plxnd1 |
C |
A |
6: 115,932,717 (GRCm39) |
C1921F |
probably damaging |
Het |
Ptger4 |
A |
C |
15: 5,272,614 (GRCm39) |
S2A |
probably benign |
Het |
Qrfprl |
A |
T |
6: 65,431,975 (GRCm39) |
M293L |
probably benign |
Het |
Rab4a |
A |
T |
8: 124,560,799 (GRCm39) |
D196V |
probably benign |
Het |
Rbck1 |
G |
A |
2: 152,160,653 (GRCm39) |
Q428* |
probably null |
Het |
Rgs14 |
A |
T |
13: 55,527,875 (GRCm39) |
N266I |
probably damaging |
Het |
Serpina1c |
A |
T |
12: 103,864,967 (GRCm39) |
|
probably benign |
Het |
Sesn3 |
G |
A |
9: 14,232,516 (GRCm39) |
R263H |
probably benign |
Het |
Slfn1 |
A |
T |
11: 83,012,289 (GRCm39) |
D135V |
probably benign |
Het |
Spata17 |
T |
C |
1: 186,926,193 (GRCm39) |
K46E |
possibly damaging |
Het |
Srcin1 |
A |
C |
11: 97,425,760 (GRCm39) |
D432E |
probably damaging |
Het |
Stxbp5 |
T |
C |
10: 9,713,888 (GRCm39) |
E217G |
probably damaging |
Het |
Terf2ip |
A |
G |
8: 112,738,649 (GRCm39) |
D179G |
probably damaging |
Het |
Tll1 |
A |
G |
8: 64,509,343 (GRCm39) |
F556L |
possibly damaging |
Het |
Tmed4 |
CTCTTTCT |
CTCT |
11: 6,224,461 (GRCm39) |
|
probably null |
Het |
Trappc9 |
G |
T |
15: 72,808,916 (GRCm39) |
Q537K |
possibly damaging |
Het |
Trim30a |
G |
T |
7: 104,060,395 (GRCm39) |
C460* |
probably null |
Het |
Trim35 |
T |
C |
14: 66,545,322 (GRCm39) |
Y298H |
probably damaging |
Het |
Ugt3a1 |
T |
A |
15: 9,306,479 (GRCm39) |
H209Q |
probably benign |
Het |
Ulk4 |
T |
C |
9: 121,021,830 (GRCm39) |
K627R |
probably damaging |
Het |
Wnk1 |
T |
C |
6: 119,928,872 (GRCm39) |
T1319A |
possibly damaging |
Het |
Wnt9b |
G |
A |
11: 103,622,981 (GRCm39) |
R141C |
probably damaging |
Het |
Zfp735 |
A |
G |
11: 73,580,611 (GRCm39) |
M37V |
probably benign |
Het |
Zmym1 |
A |
T |
4: 126,944,628 (GRCm39) |
N186K |
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 |
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'- TTGCAGCAGGGGTCAGTTAC -3'
(R):5'- CATATTTCCACAGGTCTCAGTTG -3'
Sequencing Primer
(F):5'- GTCAGTTACATAGGGACACCAGC -3'
(R):5'- CACAGGTCTCAGTTGGCTGTC -3'
|
Posted On |
2015-09-24 |