Incidental Mutation 'R0893:Ncapd2'
ID |
83582 |
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 |
039056-MU
|
Accession Numbers |
|
Essential gene? |
Probably essential
(E-score: 0.971)
|
Stock # |
R0893 (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 125150445 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Valine to Alanine
at position 860
(V860A)
|
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: V860A
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000042260 Gene: ENSMUSG00000038252 AA Change: V860A
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: ENSMUST00000191080
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000188665
|
Meta Mutation Damage Score |
0.0604 |
Coding Region Coverage |
- 1x: 99.4%
- 3x: 98.9%
- 10x: 97.4%
- 20x: 95.1%
|
Validation Efficiency |
99% (77/78) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 77 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
2700049A03Rik |
T |
A |
12: 71,266,082 (GRCm39) |
|
probably benign |
Het |
Adnp |
A |
T |
2: 168,025,647 (GRCm39) |
F549L |
possibly damaging |
Het |
Agl |
A |
G |
3: 116,546,935 (GRCm39) |
I1305T |
probably benign |
Het |
Aldh8a1 |
T |
A |
10: 21,267,593 (GRCm39) |
M326K |
probably benign |
Het |
Amdhd1 |
A |
T |
10: 93,363,513 (GRCm39) |
M295K |
probably damaging |
Het |
Arhgef4 |
T |
A |
1: 34,846,191 (GRCm39) |
C324S |
probably damaging |
Het |
Car8 |
A |
T |
4: 8,238,119 (GRCm39) |
|
probably null |
Het |
Cc2d1a |
T |
C |
8: 84,867,468 (GRCm39) |
|
probably benign |
Het |
Cd81 |
G |
A |
7: 142,616,242 (GRCm39) |
V27M |
possibly damaging |
Het |
Ces1b |
A |
T |
8: 93,806,056 (GRCm39) |
S62T |
probably benign |
Het |
Cfb |
A |
G |
17: 35,077,031 (GRCm39) |
S30P |
probably damaging |
Het |
Cmtm3 |
A |
G |
8: 105,070,543 (GRCm39) |
M101V |
possibly damaging |
Het |
Cul7 |
T |
A |
17: 46,974,116 (GRCm39) |
L1467H |
probably damaging |
Het |
Ddb1 |
C |
T |
19: 10,590,280 (GRCm39) |
S269L |
probably benign |
Het |
Ddx25 |
G |
A |
9: 35,465,686 (GRCm39) |
Q143* |
probably null |
Het |
Dis3l2 |
T |
A |
1: 86,971,928 (GRCm39) |
|
probably null |
Het |
Dlgap4 |
G |
T |
2: 156,587,898 (GRCm39) |
E598* |
probably null |
Het |
Dus1l |
C |
T |
11: 120,680,262 (GRCm39) |
G471D |
possibly damaging |
Het |
Elp4 |
C |
A |
2: 105,727,290 (GRCm39) |
|
probably benign |
Het |
Eya3 |
A |
G |
4: 132,417,097 (GRCm39) |
N194S |
probably benign |
Het |
Golgb1 |
G |
T |
16: 36,732,639 (GRCm39) |
V629L |
possibly damaging |
Het |
Hars2 |
G |
A |
18: 36,920,648 (GRCm39) |
A164T |
possibly damaging |
Het |
Hexb |
T |
A |
13: 97,322,135 (GRCm39) |
I217L |
probably benign |
Het |
Hgh1 |
A |
G |
15: 76,253,848 (GRCm39) |
|
probably null |
Het |
Hsd3b3 |
A |
T |
3: 98,649,757 (GRCm39) |
|
probably null |
Het |
Ighg2c |
T |
A |
12: 113,251,053 (GRCm39) |
N321Y |
unknown |
Het |
Il5 |
A |
G |
11: 53,611,763 (GRCm39) |
T34A |
probably benign |
Het |
Jph1 |
C |
A |
1: 17,074,507 (GRCm39) |
E504* |
probably null |
Het |
Kif2b |
G |
T |
11: 91,466,420 (GRCm39) |
T621K |
probably benign |
Het |
Kmt2c |
A |
T |
5: 25,556,268 (GRCm39) |
|
probably benign |
Het |
Leprotl1 |
A |
G |
8: 34,606,006 (GRCm39) |
|
probably null |
Het |
Lpar3 |
C |
T |
3: 145,946,348 (GRCm39) |
R9C |
possibly damaging |
Het |
Map1a |
A |
G |
2: 121,131,014 (GRCm39) |
E372G |
probably damaging |
Het |
Map2 |
C |
A |
1: 66,419,927 (GRCm39) |
T86K |
probably damaging |
Het |
Map7 |
A |
G |
10: 20,149,629 (GRCm39) |
|
probably null |
Het |
Mdn1 |
T |
C |
4: 32,701,713 (GRCm39) |
V1482A |
probably benign |
Het |
Mks1 |
G |
A |
11: 87,747,777 (GRCm39) |
|
probably benign |
Het |
Morf4l1 |
T |
G |
9: 89,984,403 (GRCm39) |
K102N |
probably damaging |
Het |
Mroh1 |
T |
A |
15: 76,293,138 (GRCm39) |
V304D |
possibly damaging |
Het |
Mtg1 |
G |
A |
7: 139,729,665 (GRCm39) |
V252M |
probably damaging |
Het |
Myh13 |
A |
T |
11: 67,225,427 (GRCm39) |
D264V |
probably damaging |
Het |
Myh2 |
A |
G |
11: 67,077,334 (GRCm39) |
Y823C |
possibly damaging |
Het |
Myoz1 |
A |
T |
14: 20,701,252 (GRCm39) |
S112R |
probably benign |
Het |
Nfix |
G |
A |
8: 85,453,155 (GRCm39) |
R300C |
probably damaging |
Het |
Npffr1 |
T |
C |
10: 61,450,010 (GRCm39) |
F95L |
possibly damaging |
Het |
Or51f1e |
G |
T |
7: 102,747,641 (GRCm39) |
R231L |
probably benign |
Het |
Or8b9 |
T |
C |
9: 37,766,492 (GRCm39) |
I126T |
probably damaging |
Het |
Orc4 |
A |
C |
2: 48,822,622 (GRCm39) |
|
probably benign |
Het |
P3h3 |
A |
C |
6: 124,822,476 (GRCm39) |
I565R |
probably damaging |
Het |
Pak4 |
T |
C |
7: 28,259,202 (GRCm39) |
D552G |
probably benign |
Het |
Pcdhb4 |
G |
T |
18: 37,442,423 (GRCm39) |
|
probably null |
Het |
Pdcd4 |
G |
T |
19: 53,917,525 (GRCm39) |
R454L |
probably damaging |
Het |
Phf8-ps |
T |
C |
17: 33,284,263 (GRCm39) |
I846M |
probably benign |
Het |
Pkd1l2 |
A |
G |
8: 117,771,231 (GRCm39) |
I1116T |
probably damaging |
Het |
Plcb2 |
A |
G |
2: 118,555,586 (GRCm39) |
|
probably benign |
Het |
Pmpca |
T |
C |
2: 26,283,230 (GRCm39) |
|
probably benign |
Het |
Pnpla7 |
T |
A |
2: 24,887,252 (GRCm39) |
I32N |
probably damaging |
Het |
Prpf8 |
A |
G |
11: 75,384,775 (GRCm39) |
K718E |
probably damaging |
Het |
Racgap1 |
C |
T |
15: 99,524,411 (GRCm39) |
A359T |
probably benign |
Het |
Rgs3 |
G |
A |
4: 62,523,798 (GRCm39) |
|
probably null |
Het |
Rhpn1 |
A |
G |
15: 75,583,503 (GRCm39) |
E356G |
probably damaging |
Het |
Rps6ka5 |
T |
C |
12: 100,540,697 (GRCm39) |
H488R |
possibly damaging |
Het |
Scn11a |
A |
G |
9: 119,632,396 (GRCm39) |
|
probably null |
Het |
Sema4f |
A |
T |
6: 82,912,948 (GRCm39) |
|
probably benign |
Het |
Serpina1f |
A |
G |
12: 103,660,094 (GRCm39) |
S63P |
probably damaging |
Het |
Slc9a3 |
T |
C |
13: 74,307,365 (GRCm39) |
W386R |
probably damaging |
Het |
Slc9b1 |
A |
C |
3: 135,100,651 (GRCm39) |
L465F |
probably benign |
Het |
Smc5 |
A |
G |
19: 23,241,017 (GRCm39) |
V165A |
possibly damaging |
Het |
Tex10 |
C |
T |
4: 48,456,800 (GRCm39) |
R637Q |
probably benign |
Het |
Tinagl1 |
G |
T |
4: 130,067,816 (GRCm39) |
D59E |
probably damaging |
Het |
Tns3 |
A |
G |
11: 8,443,302 (GRCm39) |
Y354H |
probably damaging |
Het |
Trappc9 |
C |
T |
15: 72,461,956 (GRCm39) |
G1103D |
probably damaging |
Het |
Unc79 |
A |
T |
12: 102,957,687 (GRCm39) |
D34V |
probably damaging |
Het |
Unc80 |
T |
C |
1: 66,560,645 (GRCm39) |
L791P |
probably damaging |
Het |
Unc93a2 |
A |
G |
17: 7,641,926 (GRCm39) |
L174P |
probably damaging |
Het |
Xpo7 |
G |
T |
14: 70,903,537 (GRCm39) |
|
probably benign |
Het |
Zbtb1 |
T |
A |
12: 76,432,113 (GRCm39) |
I33N |
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 |
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 |
|
|
Predicted Primers |
PCR Primer
(F):5'- TCAACCTGAACAAACTGAGATGCCG -3'
(R):5'- AGGAGAGTGAAGAGCTTCCTGCTG -3'
Sequencing Primer
(F):5'- TTGGGGTGGACAGAGGC -3'
(R):5'- TCAGCCTTCCCTGGGTGAG -3'
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Posted On |
2013-11-08 |