Incidental Mutation 'IGL03206:Ncapd2'
| ID |
413149 |
| 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 # |
IGL03206
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
6 |
| Chromosomal Location |
125144970-125168664 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 125148660 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Asparagine
at position 1018
(Y1018N)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000042260
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000043848]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000043848
AA Change: Y1018N
PolyPhen 2
Score 0.846 (Sensitivity: 0.83; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000042260
Gene: ENSMUSG00000038252
AA Change: Y1018N
| 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: ENSMUST00000188119
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000188410
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000188665
|
| 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: 45 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| A2ml1 |
T |
A |
6: 128,530,239 (GRCm39) |
E939D |
possibly damaging |
Het |
| Aloxe3 |
C |
A |
11: 69,020,472 (GRCm39) |
A172D |
possibly damaging |
Het |
| Bscl2 |
G |
A |
19: 8,820,453 (GRCm39) |
R158Q |
probably damaging |
Het |
| Cdon |
A |
G |
9: 35,414,602 (GRCm39) |
D1159G |
probably benign |
Het |
| Cep164 |
A |
G |
9: 45,714,023 (GRCm39) |
V203A |
probably benign |
Het |
| Chml |
T |
C |
1: 175,515,303 (GRCm39) |
D206G |
probably benign |
Het |
| E2f6 |
T |
C |
12: 16,872,090 (GRCm39) |
|
probably benign |
Het |
| Emilin3 |
T |
A |
2: 160,752,719 (GRCm39) |
Y77F |
probably damaging |
Het |
| Fbxw15 |
A |
T |
9: 109,394,430 (GRCm39) |
N128K |
possibly damaging |
Het |
| Gjd2 |
A |
G |
2: 113,842,204 (GRCm39) |
L91P |
probably damaging |
Het |
| Gm12830 |
T |
A |
4: 114,702,314 (GRCm39) |
|
probably benign |
Het |
| Gpr161 |
T |
A |
1: 165,149,218 (GRCm39) |
L529Q |
probably damaging |
Het |
| Hoxd10 |
T |
A |
2: 74,522,776 (GRCm39) |
Y151* |
probably null |
Het |
| Iars1 |
A |
G |
13: 49,846,546 (GRCm39) |
D215G |
possibly damaging |
Het |
| Ift140 |
T |
C |
17: 25,311,800 (GRCm39) |
V1241A |
probably damaging |
Het |
| Kdm5b |
A |
G |
1: 134,555,055 (GRCm39) |
N1321S |
probably benign |
Het |
| Lrat |
T |
A |
3: 82,810,656 (GRCm39) |
I122F |
probably damaging |
Het |
| Myl10 |
C |
T |
5: 136,726,796 (GRCm39) |
Q106* |
probably null |
Het |
| Ndrg1 |
C |
T |
15: 66,814,936 (GRCm39) |
W172* |
probably null |
Het |
| Nphs2 |
T |
C |
1: 156,153,701 (GRCm39) |
M264T |
probably damaging |
Het |
| Nrxn3 |
A |
T |
12: 89,227,278 (GRCm39) |
R677S |
possibly damaging |
Het |
| Nudt12 |
T |
C |
17: 59,314,667 (GRCm39) |
T306A |
probably benign |
Het |
| Numb |
A |
G |
12: 83,872,070 (GRCm39) |
|
probably benign |
Het |
| Or10h28 |
T |
A |
17: 33,487,725 (GRCm39) |
I9K |
possibly damaging |
Het |
| Or2y1 |
A |
T |
11: 49,385,536 (GRCm39) |
M59L |
probably benign |
Het |
| Or5p58 |
C |
T |
7: 107,694,261 (GRCm39) |
C172Y |
probably damaging |
Het |
| Pbld2 |
T |
A |
10: 62,883,261 (GRCm39) |
D94E |
probably benign |
Het |
| Pkd1l3 |
C |
A |
8: 110,350,345 (GRCm39) |
Q397K |
probably benign |
Het |
| Ppp4r3a |
A |
T |
12: 101,024,878 (GRCm39) |
L207H |
probably damaging |
Het |
| Ranbp2 |
T |
A |
10: 58,301,369 (GRCm39) |
I674N |
probably damaging |
Het |
| Retnlg |
G |
T |
16: 48,694,655 (GRCm39) |
C101F |
probably damaging |
Het |
| Rif1 |
T |
A |
2: 51,993,634 (GRCm39) |
I849N |
probably damaging |
Het |
| Serpinb9d |
T |
C |
13: 33,382,014 (GRCm39) |
I161T |
possibly damaging |
Het |
| Slc17a6 |
T |
C |
7: 51,315,771 (GRCm39) |
|
probably benign |
Het |
| Smg8 |
A |
C |
11: 86,976,814 (GRCm39) |
|
probably null |
Het |
| Spata31d1c |
C |
A |
13: 65,183,407 (GRCm39) |
N316K |
probably benign |
Het |
| Tlr1 |
A |
G |
5: 65,082,400 (GRCm39) |
S726P |
probably damaging |
Het |
| Trim69 |
A |
C |
2: 122,003,636 (GRCm39) |
D195A |
probably benign |
Het |
| Ttc16 |
T |
G |
2: 32,661,897 (GRCm39) |
|
probably null |
Het |
| Usp53 |
T |
A |
3: 122,746,832 (GRCm39) |
M405L |
probably benign |
Het |
| Ywhag |
G |
A |
5: 135,939,914 (GRCm39) |
R227* |
probably null |
Het |
| Zfp335 |
G |
T |
2: 164,734,601 (GRCm39) |
|
probably benign |
Het |
| Zfp607a |
T |
C |
7: 27,577,248 (GRCm39) |
I106T |
possibly damaging |
Het |
| Zfp959 |
T |
C |
17: 56,204,613 (GRCm39) |
S214P |
possibly damaging |
Het |
| Zfyve9 |
T |
C |
4: 108,546,406 (GRCm39) |
M868V |
possibly 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 |
|
IGL02550:Ncapd2
|
APN |
6 |
125,154,410 (GRCm39) |
missense |
probably benign |
|
|
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 |
|
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 |
2016-08-02 |
Incidental Mutation