Incidental Mutation 'IGL02550:Ncapd2'
ID |
298033 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Ncapd2
|
Ensembl Gene |
ENSMUSG00000038252 |
Gene Name |
non-SMC condensin I complex, subunit D2 |
Synonyms |
2810406C15Rik, CAP-D2, CNAP1, 2810465G24Rik |
Accession Numbers |
|
Essential gene? |
Probably essential
(E-score: 0.971)
|
Stock # |
IGL02550
|
Quality Score |
|
Status
|
|
Chromosome |
6 |
Chromosomal Location |
125144970-125168664 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 125154410 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Aspartic acid to Glycine
at position 602
(D602G)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000042260
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000043848]
|
AlphaFold |
no structure available at present |
Predicted Effect |
probably benign
Transcript: ENSMUST00000043848
AA Change: D602G
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000042260 Gene: ENSMUSG00000038252 AA Change: D602G
Domain | Start | End | E-Value | Type |
Pfam:Cnd1_N
|
75 |
240 |
1.4e-41 |
PFAM |
low complexity region
|
461 |
472 |
N/A |
INTRINSIC |
low complexity region
|
936 |
949 |
N/A |
INTRINSIC |
Pfam:Cnd1
|
1058 |
1224 |
2.5e-65 |
PFAM |
low complexity region
|
1329 |
1345 |
N/A |
INTRINSIC |
low complexity region
|
1357 |
1369 |
N/A |
INTRINSIC |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000185624
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000186561
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000186667
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000188306
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000189706
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000191080
|
Coding Region Coverage |
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 65 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Acadl |
A |
G |
1: 66,884,325 (GRCm39) |
|
probably null |
Het |
Acer3 |
G |
A |
7: 97,873,185 (GRCm39) |
T171I |
probably benign |
Het |
Acsm2 |
C |
T |
7: 119,172,507 (GRCm39) |
P117S |
probably damaging |
Het |
Anxa2 |
A |
G |
9: 69,374,588 (GRCm39) |
S22G |
probably benign |
Het |
Arrb2 |
T |
C |
11: 70,327,696 (GRCm39) |
I120T |
probably damaging |
Het |
Atp11a |
G |
T |
8: 12,866,997 (GRCm39) |
K141N |
possibly damaging |
Het |
Casd1 |
T |
C |
6: 4,642,009 (GRCm39) |
V762A |
probably benign |
Het |
Ccdc61 |
A |
T |
7: 18,627,227 (GRCm39) |
S48T |
probably benign |
Het |
Cntn2 |
T |
C |
1: 132,456,801 (GRCm39) |
M82V |
probably null |
Het |
Cobll1 |
A |
G |
2: 64,938,207 (GRCm39) |
S359P |
probably damaging |
Het |
Ctnnbl1 |
C |
A |
2: 157,726,055 (GRCm39) |
D465E |
probably benign |
Het |
Def6 |
A |
T |
17: 28,447,235 (GRCm39) |
E622V |
probably benign |
Het |
Dmgdh |
T |
C |
13: 93,854,083 (GRCm39) |
Y678H |
probably damaging |
Het |
Dock9 |
A |
T |
14: 121,935,724 (GRCm39) |
M1K |
probably null |
Het |
Esyt1 |
T |
C |
10: 128,357,962 (GRCm39) |
K216E |
probably damaging |
Het |
Fhod3 |
A |
G |
18: 25,156,017 (GRCm39) |
D545G |
probably benign |
Het |
Galnt12 |
A |
T |
4: 47,104,126 (GRCm39) |
D128V |
possibly damaging |
Het |
Gm1110 |
C |
T |
9: 26,793,130 (GRCm39) |
V549I |
probably benign |
Het |
Gm7361 |
A |
G |
5: 26,466,120 (GRCm39) |
I161V |
possibly damaging |
Het |
Gsn |
T |
C |
2: 35,172,619 (GRCm39) |
|
probably benign |
Het |
Gvin3 |
A |
T |
7: 106,200,846 (GRCm39) |
|
noncoding transcript |
Het |
Il16 |
T |
A |
7: 83,323,704 (GRCm39) |
Q282L |
possibly damaging |
Het |
Il3ra |
A |
G |
14: 14,348,055 (GRCm38) |
D67G |
probably benign |
Het |
Insrr |
T |
C |
3: 87,711,805 (GRCm39) |
L515P |
probably damaging |
Het |
Jhy |
A |
G |
9: 40,828,466 (GRCm39) |
F480S |
probably benign |
Het |
Klc4 |
C |
A |
17: 46,947,836 (GRCm39) |
|
probably null |
Het |
Klhl12 |
G |
T |
1: 134,395,443 (GRCm39) |
C135F |
possibly damaging |
Het |
Ly6m |
T |
G |
15: 74,752,604 (GRCm39) |
H24P |
probably damaging |
Het |
Mboat7 |
G |
T |
7: 3,686,905 (GRCm39) |
|
probably null |
Het |
Myo1f |
G |
A |
17: 33,807,116 (GRCm39) |
D522N |
probably damaging |
Het |
Myo1f |
A |
G |
17: 33,799,124 (GRCm39) |
|
probably benign |
Het |
Nbea |
C |
A |
3: 55,926,835 (GRCm39) |
M789I |
probably damaging |
Het |
Ncaph2 |
A |
T |
15: 89,254,064 (GRCm39) |
K344* |
probably null |
Het |
Nek2 |
A |
G |
1: 191,554,371 (GRCm39) |
Y70C |
probably damaging |
Het |
Or2t1 |
T |
C |
14: 14,328,423 (GRCm38) |
L104P |
possibly damaging |
Het |
Or4k35 |
T |
A |
2: 111,100,349 (GRCm39) |
D121V |
probably damaging |
Het |
Or4k37 |
T |
C |
2: 111,158,845 (GRCm39) |
L27P |
probably damaging |
Het |
Or5ak22 |
G |
A |
2: 85,230,166 (GRCm39) |
A237V |
probably damaging |
Het |
Or7e166 |
C |
A |
9: 19,624,343 (GRCm39) |
F73L |
possibly damaging |
Het |
Or8g35 |
T |
A |
9: 39,381,842 (GRCm39) |
Y60F |
probably benign |
Het |
Plcb3 |
T |
A |
19: 6,937,544 (GRCm39) |
K625* |
probably null |
Het |
Plrg1 |
T |
C |
3: 82,968,430 (GRCm39) |
|
probably null |
Het |
Ptpn12 |
A |
G |
5: 21,203,137 (GRCm39) |
V547A |
probably benign |
Het |
Ralgapb |
A |
G |
2: 158,290,331 (GRCm39) |
D748G |
probably damaging |
Het |
Rcbtb2 |
A |
G |
14: 73,399,459 (GRCm39) |
E41G |
probably damaging |
Het |
Rela |
G |
T |
19: 5,691,534 (GRCm39) |
R236L |
possibly damaging |
Het |
Rps6kc1 |
A |
G |
1: 190,604,059 (GRCm39) |
S188P |
probably damaging |
Het |
Sipa1l1 |
A |
T |
12: 82,487,723 (GRCm39) |
K1666* |
probably null |
Het |
Slco1a1 |
C |
T |
6: 141,889,191 (GRCm39) |
M40I |
probably benign |
Het |
Smarca4 |
C |
A |
9: 21,597,418 (GRCm39) |
P1391Q |
probably benign |
Het |
Stra6 |
A |
G |
9: 58,057,366 (GRCm39) |
N392S |
possibly damaging |
Het |
Syt4 |
A |
G |
18: 31,577,246 (GRCm39) |
I36T |
probably damaging |
Het |
Tgfbr2 |
A |
T |
9: 115,939,197 (GRCm39) |
M235K |
probably benign |
Het |
Tmem87a |
T |
A |
2: 120,204,966 (GRCm39) |
|
probably null |
Het |
Tmf1 |
T |
C |
6: 97,135,522 (GRCm39) |
D918G |
probably benign |
Het |
Tnfaip2 |
A |
G |
12: 111,412,535 (GRCm39) |
Y312C |
probably damaging |
Het |
Usp47 |
C |
T |
7: 111,703,561 (GRCm39) |
R1178C |
probably damaging |
Het |
Vmn2r95 |
T |
A |
17: 18,671,994 (GRCm39) |
I577N |
probably damaging |
Het |
Vps13b |
T |
C |
15: 35,572,242 (GRCm39) |
V953A |
probably benign |
Het |
Wasl |
A |
G |
6: 24,633,883 (GRCm39) |
F127S |
probably damaging |
Het |
Wdr1 |
C |
T |
5: 38,698,206 (GRCm39) |
V192I |
probably damaging |
Het |
Wnt9a |
C |
T |
11: 59,221,744 (GRCm39) |
T214I |
probably damaging |
Het |
Xpo5 |
A |
G |
17: 46,540,255 (GRCm39) |
D693G |
probably benign |
Het |
Zan |
A |
G |
5: 137,385,301 (GRCm39) |
L5044P |
unknown |
Het |
Zhx3 |
T |
C |
2: 160,623,216 (GRCm39) |
N317S |
probably damaging |
Het |
|
Other mutations in Ncapd2 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00477:Ncapd2
|
APN |
6 |
125,150,388 (GRCm39) |
missense |
probably benign |
0.05 |
IGL00960:Ncapd2
|
APN |
6 |
125,150,811 (GRCm39) |
missense |
probably benign |
|
IGL01307:Ncapd2
|
APN |
6 |
125,145,582 (GRCm39) |
missense |
possibly damaging |
0.56 |
IGL01612:Ncapd2
|
APN |
6 |
125,154,835 (GRCm39) |
missense |
probably benign |
0.01 |
IGL01903:Ncapd2
|
APN |
6 |
125,154,423 (GRCm39) |
missense |
probably benign |
|
IGL01987:Ncapd2
|
APN |
6 |
125,162,804 (GRCm39) |
splice site |
probably benign |
|
IGL01998:Ncapd2
|
APN |
6 |
125,146,896 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01998:Ncapd2
|
APN |
6 |
125,150,078 (GRCm39) |
missense |
probably benign |
0.18 |
IGL02329:Ncapd2
|
APN |
6 |
125,166,781 (GRCm39) |
missense |
probably damaging |
0.99 |
IGL02662:Ncapd2
|
APN |
6 |
125,153,694 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02817:Ncapd2
|
APN |
6 |
125,147,877 (GRCm39) |
critical splice donor site |
probably null |
|
IGL03121:Ncapd2
|
APN |
6 |
125,150,575 (GRCm39) |
missense |
probably benign |
0.00 |
IGL03206:Ncapd2
|
APN |
6 |
125,148,660 (GRCm39) |
missense |
possibly damaging |
0.85 |
FR4548:Ncapd2
|
UTSW |
6 |
125,150,559 (GRCm39) |
critical splice donor site |
probably benign |
|
PIT4305001:Ncapd2
|
UTSW |
6 |
125,160,990 (GRCm39) |
nonsense |
probably null |
|
R0486:Ncapd2
|
UTSW |
6 |
125,160,990 (GRCm39) |
nonsense |
probably null |
|
R0635:Ncapd2
|
UTSW |
6 |
125,149,999 (GRCm39) |
missense |
probably benign |
0.00 |
R0699:Ncapd2
|
UTSW |
6 |
125,146,843 (GRCm39) |
missense |
probably benign |
|
R0746:Ncapd2
|
UTSW |
6 |
125,151,227 (GRCm39) |
missense |
possibly damaging |
0.50 |
R0893:Ncapd2
|
UTSW |
6 |
125,150,445 (GRCm39) |
missense |
probably benign |
|
R1385:Ncapd2
|
UTSW |
6 |
125,150,078 (GRCm39) |
missense |
probably benign |
0.18 |
R1513:Ncapd2
|
UTSW |
6 |
125,147,955 (GRCm39) |
missense |
probably damaging |
1.00 |
R1601:Ncapd2
|
UTSW |
6 |
125,162,735 (GRCm39) |
missense |
probably damaging |
1.00 |
R1698:Ncapd2
|
UTSW |
6 |
125,145,553 (GRCm39) |
missense |
probably null |
0.39 |
R2030:Ncapd2
|
UTSW |
6 |
125,153,678 (GRCm39) |
missense |
possibly damaging |
0.95 |
R2035:Ncapd2
|
UTSW |
6 |
125,161,491 (GRCm39) |
missense |
probably benign |
0.17 |
R2359:Ncapd2
|
UTSW |
6 |
125,156,379 (GRCm39) |
unclassified |
probably benign |
|
R3951:Ncapd2
|
UTSW |
6 |
125,163,747 (GRCm39) |
missense |
probably damaging |
0.98 |
R3952:Ncapd2
|
UTSW |
6 |
125,163,747 (GRCm39) |
missense |
probably damaging |
0.98 |
R3953:Ncapd2
|
UTSW |
6 |
125,147,697 (GRCm39) |
missense |
probably damaging |
0.96 |
R4623:Ncapd2
|
UTSW |
6 |
125,150,572 (GRCm39) |
missense |
probably benign |
0.04 |
R4630:Ncapd2
|
UTSW |
6 |
125,156,196 (GRCm39) |
splice site |
probably null |
|
R4667:Ncapd2
|
UTSW |
6 |
125,161,481 (GRCm39) |
missense |
possibly damaging |
0.69 |
R4769:Ncapd2
|
UTSW |
6 |
125,162,708 (GRCm39) |
missense |
probably damaging |
1.00 |
R4936:Ncapd2
|
UTSW |
6 |
125,146,803 (GRCm39) |
missense |
probably benign |
0.18 |
R5130:Ncapd2
|
UTSW |
6 |
125,146,887 (GRCm39) |
missense |
possibly damaging |
0.90 |
R5465:Ncapd2
|
UTSW |
6 |
125,153,746 (GRCm39) |
missense |
probably damaging |
0.98 |
R5806:Ncapd2
|
UTSW |
6 |
125,158,117 (GRCm39) |
missense |
probably damaging |
0.98 |
R5823:Ncapd2
|
UTSW |
6 |
125,145,663 (GRCm39) |
missense |
probably benign |
0.00 |
R5888:Ncapd2
|
UTSW |
6 |
125,164,052 (GRCm39) |
missense |
probably damaging |
1.00 |
R5940:Ncapd2
|
UTSW |
6 |
125,145,832 (GRCm39) |
missense |
probably benign |
|
R6198:Ncapd2
|
UTSW |
6 |
125,156,286 (GRCm39) |
nonsense |
probably null |
|
R6406:Ncapd2
|
UTSW |
6 |
125,150,841 (GRCm39) |
missense |
probably benign |
|
R6652:Ncapd2
|
UTSW |
6 |
125,163,233 (GRCm39) |
missense |
probably benign |
0.13 |
R6959:Ncapd2
|
UTSW |
6 |
125,145,883 (GRCm39) |
missense |
probably benign |
|
R6977:Ncapd2
|
UTSW |
6 |
125,148,472 (GRCm39) |
missense |
probably damaging |
1.00 |
R6982:Ncapd2
|
UTSW |
6 |
125,153,699 (GRCm39) |
missense |
probably damaging |
0.96 |
R7143:Ncapd2
|
UTSW |
6 |
125,156,524 (GRCm39) |
missense |
probably benign |
|
R7144:Ncapd2
|
UTSW |
6 |
125,153,633 (GRCm39) |
missense |
probably benign |
0.11 |
R7186:Ncapd2
|
UTSW |
6 |
125,163,119 (GRCm39) |
missense |
possibly damaging |
0.89 |
R7203:Ncapd2
|
UTSW |
6 |
125,161,291 (GRCm39) |
missense |
possibly damaging |
0.58 |
R7384:Ncapd2
|
UTSW |
6 |
125,150,364 (GRCm39) |
missense |
probably benign |
|
R8039:Ncapd2
|
UTSW |
6 |
125,157,989 (GRCm39) |
missense |
probably damaging |
0.98 |
R8047:Ncapd2
|
UTSW |
6 |
125,166,762 (GRCm39) |
missense |
probably damaging |
0.98 |
R8048:Ncapd2
|
UTSW |
6 |
125,156,661 (GRCm39) |
nonsense |
probably null |
|
R8056:Ncapd2
|
UTSW |
6 |
125,148,006 (GRCm39) |
missense |
probably damaging |
1.00 |
R8097:Ncapd2
|
UTSW |
6 |
125,145,945 (GRCm39) |
missense |
possibly damaging |
0.78 |
R8489:Ncapd2
|
UTSW |
6 |
125,150,745 (GRCm39) |
missense |
probably damaging |
0.98 |
R8496:Ncapd2
|
UTSW |
6 |
125,147,127 (GRCm39) |
missense |
probably damaging |
0.99 |
R8755:Ncapd2
|
UTSW |
6 |
125,148,817 (GRCm39) |
missense |
possibly damaging |
0.69 |
R8776:Ncapd2
|
UTSW |
6 |
125,154,476 (GRCm39) |
missense |
probably benign |
|
R8776-TAIL:Ncapd2
|
UTSW |
6 |
125,154,476 (GRCm39) |
missense |
probably benign |
|
R9015:Ncapd2
|
UTSW |
6 |
125,145,285 (GRCm39) |
unclassified |
probably benign |
|
R9042:Ncapd2
|
UTSW |
6 |
125,156,301 (GRCm39) |
missense |
probably benign |
|
R9358:Ncapd2
|
UTSW |
6 |
125,163,106 (GRCm39) |
missense |
probably benign |
0.00 |
R9437:Ncapd2
|
UTSW |
6 |
125,153,655 (GRCm39) |
missense |
probably damaging |
0.99 |
RF045:Ncapd2
|
UTSW |
6 |
125,156,199 (GRCm39) |
frame shift |
probably null |
|
|
Posted On |
2015-04-16 |