Incidental Mutation 'R2035:Ncapd2'
ID |
224464 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Ncapd2
|
Ensembl Gene |
ENSMUSG00000038252 |
Gene Name |
non-SMC condensin I complex, subunit D2 |
Synonyms |
2810406C15Rik, CAP-D2, CNAP1, 2810465G24Rik |
MMRRC Submission |
040042-MU
|
Accession Numbers |
|
Essential gene? |
Probably essential
(E-score: 0.971)
|
Stock # |
R2035 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
6 |
Chromosomal Location |
125144970-125168664 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 125161491 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Asparagine to Aspartic acid
at position 208
(N208D)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000042260
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000043848]
[ENSMUST00000188762]
[ENSMUST00000189959]
|
AlphaFold |
no structure available at present |
Predicted Effect |
probably benign
Transcript: ENSMUST00000043848
AA Change: N208D
PolyPhen 2
Score 0.166 (Sensitivity: 0.92; Specificity: 0.87)
|
SMART Domains |
Protein: ENSMUSP00000042260 Gene: ENSMUSG00000038252 AA Change: N208D
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: ENSMUST00000158992
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000186210
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000187351
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000188762
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000189959
|
SMART Domains |
Protein: ENSMUSP00000139445 Gene: ENSMUSG00000038252
Domain | Start | End | E-Value | Type |
Pfam:Cnd1_N
|
73 |
162 |
8.3e-6 |
PFAM |
|
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 96.9%
- 20x: 93.9%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 68 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
2210408I21Rik |
T |
C |
13: 77,760,761 (GRCm39) |
*1273Q |
probably null |
Het |
Aars2 |
A |
G |
17: 45,825,727 (GRCm39) |
I348V |
possibly damaging |
Het |
Abca8b |
G |
A |
11: 109,847,932 (GRCm39) |
R788C |
possibly damaging |
Het |
Abhd15 |
T |
C |
11: 77,406,536 (GRCm39) |
L171P |
probably damaging |
Het |
Abi3bp |
A |
T |
16: 56,480,581 (GRCm39) |
H686L |
probably benign |
Het |
Acsl1 |
A |
G |
8: 46,981,621 (GRCm39) |
Y456C |
probably damaging |
Het |
Arsi |
G |
A |
18: 61,049,723 (GRCm39) |
G202E |
probably benign |
Het |
Ash1l |
T |
A |
3: 88,973,624 (GRCm39) |
V2561D |
probably benign |
Het |
B3galnt2 |
T |
A |
13: 14,140,909 (GRCm39) |
F44I |
probably benign |
Het |
Bicra |
A |
T |
7: 15,730,338 (GRCm39) |
H24Q |
possibly damaging |
Het |
Ccdc163 |
T |
C |
4: 116,568,530 (GRCm39) |
S195P |
probably damaging |
Het |
Cd163 |
A |
T |
6: 124,297,588 (GRCm39) |
K911N |
probably damaging |
Het |
Clcn3 |
A |
T |
8: 61,387,632 (GRCm39) |
S179T |
probably damaging |
Het |
Dctn4 |
T |
A |
18: 60,671,489 (GRCm39) |
D120E |
possibly damaging |
Het |
Dnali1 |
C |
T |
4: 124,952,903 (GRCm39) |
V207M |
probably damaging |
Het |
Dnhd1 |
A |
G |
7: 105,354,128 (GRCm39) |
Q3036R |
probably damaging |
Het |
Dst |
G |
A |
1: 34,310,494 (GRCm39) |
R4098H |
probably damaging |
Het |
Eml5 |
A |
T |
12: 98,760,525 (GRCm39) |
N1741K |
probably benign |
Het |
Enah |
G |
A |
1: 181,749,537 (GRCm39) |
P415L |
probably damaging |
Het |
Entr1 |
T |
A |
2: 26,273,639 (GRCm39) |
S374C |
probably damaging |
Het |
Ess2 |
A |
G |
16: 17,727,950 (GRCm39) |
|
probably null |
Het |
F8 |
ATCTCTCTC |
ATCTCTC |
X: 74,366,604 (GRCm39) |
|
probably null |
Het |
Gm4841 |
T |
G |
18: 60,402,929 (GRCm39) |
Y388S |
probably benign |
Het |
Grin3a |
T |
C |
4: 49,771,336 (GRCm39) |
T479A |
probably damaging |
Het |
Gucy2e |
C |
A |
11: 69,118,358 (GRCm39) |
V743L |
probably benign |
Het |
Il33 |
T |
A |
19: 29,932,037 (GRCm39) |
N143K |
probably damaging |
Het |
Ism1 |
T |
A |
2: 139,599,075 (GRCm39) |
S349R |
probably damaging |
Het |
Itgb2 |
T |
A |
10: 77,383,033 (GRCm39) |
D134E |
probably damaging |
Het |
Kcnk1 |
A |
C |
8: 126,752,108 (GRCm39) |
N238T |
possibly damaging |
Het |
Kcnu1 |
G |
T |
8: 26,386,721 (GRCm39) |
V535L |
probably benign |
Het |
Muc19 |
T |
A |
15: 91,776,599 (GRCm39) |
|
noncoding transcript |
Het |
Mycbp2 |
A |
T |
14: 103,497,675 (GRCm39) |
Y966N |
probably damaging |
Het |
Myo19 |
A |
T |
11: 84,788,434 (GRCm39) |
M349L |
probably benign |
Het |
Narf |
G |
A |
11: 121,129,326 (GRCm39) |
A37T |
probably benign |
Het |
Nr1i2 |
A |
G |
16: 38,071,488 (GRCm39) |
|
probably null |
Het |
Opn5 |
A |
G |
17: 42,918,052 (GRCm39) |
I70T |
probably damaging |
Het |
Or52e19 |
T |
A |
7: 102,959,463 (GRCm39) |
H178Q |
probably damaging |
Het |
Or7a38 |
T |
C |
10: 78,753,421 (GRCm39) |
V249A |
possibly damaging |
Het |
Pkn2 |
G |
T |
3: 142,526,348 (GRCm39) |
P410T |
probably damaging |
Het |
Pla2r1 |
T |
C |
2: 60,253,080 (GRCm39) |
N1337S |
probably damaging |
Het |
Prkd3 |
A |
T |
17: 79,282,802 (GRCm39) |
|
probably null |
Het |
Pum2 |
T |
A |
12: 8,778,638 (GRCm39) |
Y429* |
probably null |
Het |
Resf1 |
G |
A |
6: 149,230,724 (GRCm39) |
V1257I |
possibly damaging |
Het |
Rttn |
T |
A |
18: 89,038,340 (GRCm39) |
V812E |
probably damaging |
Het |
Rufy2 |
T |
A |
10: 62,842,526 (GRCm39) |
L483H |
probably damaging |
Het |
Slc35a3 |
T |
A |
3: 116,480,972 (GRCm39) |
Q97L |
probably damaging |
Het |
St18 |
A |
T |
1: 6,872,552 (GRCm39) |
M96L |
probably benign |
Het |
Strc |
G |
A |
2: 121,205,415 (GRCm39) |
A905V |
probably damaging |
Het |
Syne3 |
T |
C |
12: 104,924,386 (GRCm39) |
M338V |
probably benign |
Het |
Syngr2 |
A |
G |
11: 117,704,186 (GRCm39) |
D187G |
probably benign |
Het |
Tas2r109 |
A |
C |
6: 132,957,423 (GRCm39) |
I169R |
probably benign |
Het |
Tbc1d22a |
T |
A |
15: 86,275,266 (GRCm39) |
|
probably null |
Het |
Thbs1 |
T |
A |
2: 117,948,821 (GRCm39) |
|
probably null |
Het |
Them6 |
C |
A |
15: 74,593,524 (GRCm39) |
D127E |
probably damaging |
Het |
Tmem132d |
T |
C |
5: 127,869,522 (GRCm39) |
D604G |
probably damaging |
Het |
Tnni1 |
A |
G |
1: 135,733,330 (GRCm39) |
T51A |
probably benign |
Het |
Topors |
T |
C |
4: 40,262,879 (GRCm39) |
N135S |
probably damaging |
Het |
Unc80 |
A |
T |
1: 66,645,752 (GRCm39) |
D1476V |
probably damaging |
Het |
Vmn1r17 |
A |
G |
6: 57,337,573 (GRCm39) |
V264A |
probably benign |
Het |
Vmn1r193 |
T |
A |
13: 22,403,732 (GRCm39) |
T87S |
probably benign |
Het |
Vmn1r202 |
C |
A |
13: 22,685,772 (GRCm39) |
R215L |
probably damaging |
Het |
Vmn2r24 |
A |
T |
6: 123,793,019 (GRCm39) |
N782I |
probably damaging |
Het |
Vmn2r53 |
A |
G |
7: 12,332,438 (GRCm39) |
F404L |
possibly damaging |
Het |
Xpo4 |
A |
T |
14: 57,823,383 (GRCm39) |
C1036S |
possibly damaging |
Het |
Yae1d1 |
T |
C |
13: 18,164,306 (GRCm39) |
N104D |
probably benign |
Het |
Zan |
C |
A |
5: 137,442,209 (GRCm39) |
R1901L |
unknown |
Het |
Zbtb9 |
G |
A |
17: 27,193,897 (GRCm39) |
R434H |
probably damaging |
Het |
Zdhhc23 |
A |
C |
16: 43,793,871 (GRCm39) |
C268G |
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 |
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 |
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 |
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 |
|
|
Predicted Primers |
PCR Primer
(F):5'- AGATGGAACGTTAGCCATTCAGG -3'
(R):5'- TTGTCATGGTAACTGGCTGC -3'
Sequencing Primer
(F):5'- TTAGCCATTCAGGGAGAGCTGC -3'
(R):5'- GTCATGGTAACTGGCTGCAATTTAC -3'
|
Posted On |
2014-08-25 |