Incidental Mutation 'R4623:Ncapd2'
ID |
346325 |
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 |
041888-MU
|
Accession Numbers |
|
Essential gene? |
Probably essential
(E-score: 0.971)
|
Stock # |
R4623 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
6 |
Chromosomal Location |
125144970-125168664 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 125150572 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Valine to Alanine
at position 843
(V843A)
|
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: V843A
PolyPhen 2
Score 0.044 (Sensitivity: 0.94; Specificity: 0.83)
|
SMART Domains |
Protein: ENSMUSP00000042260 Gene: ENSMUSG00000038252 AA Change: V843A
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: ENSMUST00000188306
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000188410
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000189706
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000188665
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000191080
|
Meta Mutation Damage Score |
0.1524 |
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.1%
- 20x: 94.8%
|
Validation Efficiency |
99% (88/89) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 82 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
1700034J04Rik |
T |
C |
12: 11,272,141 (GRCm39) |
|
noncoding transcript |
Het |
A930003A15Rik |
C |
T |
16: 19,702,487 (GRCm39) |
|
noncoding transcript |
Het |
Abca13 |
A |
G |
11: 9,259,130 (GRCm39) |
Y2952C |
probably damaging |
Het |
Actrt2 |
T |
C |
4: 154,751,747 (GRCm39) |
T130A |
probably benign |
Het |
Adamts7 |
T |
A |
9: 90,068,515 (GRCm39) |
D475E |
probably benign |
Het |
Adgrf5 |
A |
G |
17: 43,761,874 (GRCm39) |
S1190G |
probably benign |
Het |
Adgrg6 |
A |
T |
10: 14,317,243 (GRCm39) |
C526S |
probably damaging |
Het |
Aldoc |
T |
C |
11: 78,215,947 (GRCm39) |
V151A |
probably damaging |
Het |
Arsj |
A |
T |
3: 126,158,445 (GRCm39) |
E8V |
probably benign |
Het |
Asph |
T |
C |
4: 9,622,005 (GRCm39) |
K167E |
possibly damaging |
Het |
Auts2 |
G |
A |
5: 131,469,221 (GRCm39) |
P475S |
probably benign |
Het |
C1d |
A |
G |
11: 17,212,742 (GRCm39) |
D29G |
possibly damaging |
Het |
Calb1 |
T |
A |
4: 15,895,721 (GRCm39) |
|
probably benign |
Het |
Ceacam15 |
A |
T |
7: 16,407,391 (GRCm39) |
F42Y |
probably damaging |
Het |
Cpm |
A |
G |
10: 117,506,202 (GRCm39) |
N188D |
possibly damaging |
Het |
Cts6 |
A |
T |
13: 61,349,974 (GRCm39) |
Y36N |
possibly damaging |
Het |
Cux1 |
T |
C |
5: 136,337,154 (GRCm39) |
K657R |
probably damaging |
Het |
Cyp2a22 |
G |
T |
7: 26,632,916 (GRCm39) |
P429T |
probably damaging |
Het |
Dipk2a |
T |
C |
9: 94,402,451 (GRCm39) |
N404D |
possibly damaging |
Het |
Dock3 |
T |
C |
9: 106,939,244 (GRCm39) |
E168G |
possibly damaging |
Het |
Dot1l |
A |
G |
10: 80,617,984 (GRCm39) |
N324S |
probably benign |
Het |
Dusp13b |
A |
C |
14: 21,793,546 (GRCm39) |
|
probably benign |
Het |
Eif4g1 |
T |
A |
16: 20,500,095 (GRCm39) |
|
probably benign |
Het |
Fan1 |
G |
T |
7: 64,023,301 (GRCm39) |
Y121* |
probably null |
Het |
Foxn4 |
T |
C |
5: 114,398,991 (GRCm39) |
E80G |
possibly damaging |
Het |
Gal3st2c |
C |
A |
1: 93,937,178 (GRCm39) |
H374Q |
possibly damaging |
Het |
Gm973 |
A |
T |
1: 59,595,435 (GRCm39) |
I409F |
probably damaging |
Het |
Gpr18 |
T |
A |
14: 122,149,579 (GRCm39) |
T149S |
probably damaging |
Het |
Gsr |
A |
G |
8: 34,170,333 (GRCm39) |
E206G |
probably damaging |
Het |
Hal |
A |
G |
10: 93,343,301 (GRCm39) |
H515R |
probably damaging |
Het |
Heatr5b |
A |
G |
17: 79,102,548 (GRCm39) |
S1277P |
possibly damaging |
Het |
Hmcn2 |
A |
G |
2: 31,286,722 (GRCm39) |
E2125G |
probably damaging |
Het |
Ikzf4 |
A |
G |
10: 128,476,988 (GRCm39) |
C108R |
probably damaging |
Het |
Kcnh2 |
A |
G |
5: 24,553,440 (GRCm39) |
V59A |
probably benign |
Het |
Khdrbs1 |
A |
G |
4: 129,614,635 (GRCm39) |
V306A |
probably benign |
Het |
Kif11 |
A |
T |
19: 37,398,195 (GRCm39) |
I674L |
probably benign |
Het |
Lrp1b |
A |
T |
2: 41,136,033 (GRCm39) |
C1646S |
probably damaging |
Het |
Ltbp2 |
A |
G |
12: 84,856,122 (GRCm39) |
I707T |
probably damaging |
Het |
Macf1 |
A |
G |
4: 123,266,141 (GRCm39) |
|
probably null |
Het |
Mib1 |
C |
A |
18: 10,808,086 (GRCm39) |
N944K |
probably benign |
Het |
Mical3 |
C |
A |
6: 120,938,586 (GRCm39) |
E262* |
probably null |
Het |
Mms22l |
C |
T |
4: 24,502,792 (GRCm39) |
Q55* |
probably null |
Het |
Mplkipl1 |
C |
T |
19: 61,164,364 (GRCm39) |
G24R |
unknown |
Het |
Mrps11 |
T |
C |
7: 78,441,689 (GRCm39) |
|
probably null |
Het |
Myh8 |
A |
G |
11: 67,177,084 (GRCm39) |
E412G |
probably damaging |
Het |
Myo9a |
T |
A |
9: 59,778,355 (GRCm39) |
D1370E |
probably benign |
Het |
Nell1 |
A |
G |
7: 49,770,310 (GRCm39) |
E123G |
possibly damaging |
Het |
Nkd1 |
A |
G |
8: 89,316,383 (GRCm39) |
D213G |
probably benign |
Het |
Nlrp1b |
T |
C |
11: 71,052,669 (GRCm39) |
T920A |
probably benign |
Het |
Or5k8 |
A |
T |
16: 58,644,469 (GRCm39) |
I201N |
possibly damaging |
Het |
Or6c208 |
G |
A |
10: 129,223,915 (GRCm39) |
V138M |
probably benign |
Het |
Or8k40 |
T |
A |
2: 86,584,906 (GRCm39) |
M59L |
possibly damaging |
Het |
Pde8b |
C |
T |
13: 95,178,447 (GRCm39) |
A566T |
possibly damaging |
Het |
Pds5b |
T |
A |
5: 150,724,066 (GRCm39) |
S1214R |
probably benign |
Het |
Pld1 |
T |
C |
3: 28,083,393 (GRCm39) |
I171T |
probably benign |
Het |
Plekha5 |
T |
A |
6: 140,496,912 (GRCm39) |
V154E |
probably damaging |
Het |
Plxna2 |
A |
T |
1: 194,494,458 (GRCm39) |
I1892L |
probably benign |
Het |
Ppp1r16b |
A |
G |
2: 158,603,383 (GRCm39) |
Y436C |
possibly damaging |
Het |
Proc |
T |
A |
18: 32,260,526 (GRCm39) |
T200S |
probably benign |
Het |
Psap |
T |
G |
10: 60,136,630 (GRCm39) |
C536W |
probably damaging |
Het |
Ptger2 |
G |
A |
14: 45,226,471 (GRCm39) |
R17H |
possibly damaging |
Het |
Rab42 |
A |
G |
4: 132,030,504 (GRCm39) |
F49L |
possibly damaging |
Het |
Racgap1 |
C |
A |
15: 99,524,087 (GRCm39) |
S440I |
probably benign |
Het |
Rdh10 |
G |
A |
1: 16,201,287 (GRCm39) |
|
probably benign |
Het |
Rnft2 |
T |
A |
5: 118,370,471 (GRCm39) |
S244C |
probably damaging |
Het |
Sftpc |
T |
C |
14: 70,759,718 (GRCm39) |
|
probably null |
Het |
Shcbp1 |
A |
C |
8: 4,789,178 (GRCm39) |
V547G |
probably damaging |
Het |
Slc6a13 |
T |
C |
6: 121,302,104 (GRCm39) |
S229P |
probably damaging |
Het |
Soat2 |
A |
T |
15: 102,066,144 (GRCm39) |
|
probably benign |
Het |
Swap70 |
A |
G |
7: 109,867,079 (GRCm39) |
K294E |
probably benign |
Het |
Tcim |
C |
A |
8: 24,928,725 (GRCm39) |
R63L |
probably damaging |
Het |
Tek |
G |
A |
4: 94,751,898 (GRCm39) |
V1013I |
probably damaging |
Het |
Tg |
T |
A |
15: 66,607,120 (GRCm39) |
M219K |
probably benign |
Het |
Tie1 |
A |
G |
4: 118,343,808 (GRCm39) |
S45P |
possibly damaging |
Het |
Tmem59 |
A |
T |
4: 107,047,915 (GRCm39) |
|
probably benign |
Het |
Togaram1 |
A |
T |
12: 65,029,224 (GRCm39) |
E882D |
possibly damaging |
Het |
Tram1l1 |
T |
A |
3: 124,115,509 (GRCm39) |
M223K |
possibly damaging |
Het |
Tssk5 |
C |
T |
15: 76,256,668 (GRCm39) |
R280Q |
probably benign |
Het |
Uspl1 |
T |
A |
5: 149,151,405 (GRCm39) |
D669E |
probably damaging |
Het |
Vav1 |
C |
A |
17: 57,606,839 (GRCm39) |
|
probably null |
Het |
Vcl |
A |
T |
14: 21,065,007 (GRCm39) |
E634V |
probably benign |
Het |
Zfp672 |
A |
T |
11: 58,207,281 (GRCm39) |
C347S |
probably benign |
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 |
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 |
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'- TTGCAACATCTGGGCACAG -3'
(R):5'- GTGTGCCTTGCCATTGCTAAC -3'
Sequencing Primer
(F):5'- AGAGCACATCAGGGCTCTCTG -3'
(R):5'- TTGCTAACATCTCGGACAGG -3'
|
Posted On |
2015-09-25 |