Incidental Mutation 'R8755:Ncapd2'
| ID |
664099 |
| 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 |
068596-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.971)
|
| Stock # |
R8755 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
6 |
| Chromosomal Location |
125144970-125168664 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 125148817 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Cysteine to Serine
at position 990
(C990S)
|
| 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: C990S
PolyPhen 2
Score 0.691 (Sensitivity: 0.86; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000042260
Gene: ENSMUSG00000038252
AA Change: C990S
| 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 |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.4%
- 20x: 98.0%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 68 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aaas |
A |
C |
15: 102,255,520 (GRCm39) |
D86E |
probably benign |
Het |
| Akap3 |
A |
G |
6: 126,843,130 (GRCm39) |
D583G |
possibly damaging |
Het |
| Alms1 |
T |
A |
6: 85,598,556 (GRCm39) |
D1127E |
probably benign |
Het |
| Anks4b |
T |
A |
7: 119,773,307 (GRCm39) |
|
probably null |
Het |
| Ano8 |
A |
T |
8: 71,935,724 (GRCm39) |
F298Y |
probably benign |
Het |
| Arhgef2 |
C |
A |
3: 88,536,850 (GRCm39) |
Q7K |
probably benign |
Het |
| Brd10 |
T |
C |
19: 29,693,890 (GRCm39) |
I1868V |
probably benign |
Het |
| Cand2 |
T |
C |
6: 115,769,941 (GRCm39) |
L917P |
probably damaging |
Het |
| Car8 |
T |
C |
4: 8,238,083 (GRCm39) |
D44G |
probably benign |
Het |
| Cdk1 |
T |
C |
10: 69,176,435 (GRCm39) |
N224S |
probably benign |
Het |
| Cep162 |
T |
C |
9: 87,114,064 (GRCm39) |
E336G |
probably benign |
Het |
| Chd7 |
T |
C |
4: 8,866,069 (GRCm39) |
M2792T |
probably benign |
Het |
| Cyp4f40 |
A |
T |
17: 32,886,957 (GRCm39) |
K143* |
probably null |
Het |
| Cyth1 |
T |
A |
11: 118,074,768 (GRCm39) |
M178L |
probably benign |
Het |
| Dcaf11 |
C |
T |
14: 55,798,023 (GRCm39) |
|
probably benign |
Het |
| Dlec1 |
T |
G |
9: 118,967,225 (GRCm39) |
W1203G |
probably damaging |
Het |
| Fgd4 |
A |
T |
16: 16,302,133 (GRCm39) |
S141T |
probably benign |
Het |
| Firrm |
A |
G |
1: 163,786,895 (GRCm39) |
S725P |
probably damaging |
Het |
| Flg2 |
T |
A |
3: 93,108,120 (GRCm39) |
D49E |
probably damaging |
Het |
| Fyb2 |
T |
A |
4: 104,861,086 (GRCm39) |
D647E |
unknown |
Het |
| Gstp1 |
T |
C |
19: 4,086,698 (GRCm39) |
Y109C |
probably damaging |
Het |
| Gtf3c3 |
T |
C |
1: 54,468,031 (GRCm39) |
E202G |
probably benign |
Het |
| Hephl1 |
A |
G |
9: 14,985,563 (GRCm39) |
F698L |
probably benign |
Het |
| Hephl1 |
G |
T |
9: 15,023,280 (GRCm39) |
P41T |
probably damaging |
Het |
| Hmcn1 |
T |
A |
1: 150,509,371 (GRCm39) |
E3659V |
probably benign |
Het |
| Il27ra |
A |
T |
8: 84,765,988 (GRCm39) |
D229E |
probably damaging |
Het |
| Itih2 |
T |
A |
2: 10,103,369 (GRCm39) |
D706V |
probably damaging |
Het |
| Itpr2 |
A |
T |
6: 146,133,926 (GRCm39) |
C1893S |
probably benign |
Het |
| Lama5 |
T |
C |
2: 179,832,714 (GRCm39) |
N1646S |
probably benign |
Het |
| Laptm4b |
A |
G |
15: 34,273,420 (GRCm39) |
D111G |
probably damaging |
Het |
| Ldb3 |
T |
A |
14: 34,299,256 (GRCm39) |
S123C |
probably damaging |
Het |
| Lgals12 |
C |
T |
19: 7,581,345 (GRCm39) |
E121K |
possibly damaging |
Het |
| Mmp13 |
T |
A |
9: 7,277,996 (GRCm39) |
S296R |
possibly damaging |
Het |
| Mpeg1 |
T |
C |
19: 12,439,238 (GRCm39) |
F232S |
probably damaging |
Het |
| Nckap5 |
A |
T |
1: 125,954,279 (GRCm39) |
C758S |
possibly damaging |
Het |
| Nwd1 |
A |
T |
8: 73,394,192 (GRCm39) |
D485V |
probably damaging |
Het |
| Or13a21 |
T |
G |
7: 139,999,417 (GRCm39) |
S90R |
probably benign |
Het |
| Or6c2 |
T |
C |
10: 129,362,332 (GRCm39) |
F79L |
possibly damaging |
Het |
| Or8g50 |
T |
A |
9: 39,648,786 (GRCm39) |
I225N |
probably damaging |
Het |
| Pcgf3 |
G |
A |
5: 108,634,108 (GRCm39) |
R122Q |
probably benign |
Het |
| Pgm5 |
T |
A |
19: 24,812,212 (GRCm39) |
I107F |
probably damaging |
Het |
| Pid1 |
G |
T |
1: 84,016,066 (GRCm39) |
H114N |
probably damaging |
Het |
| Pkdrej |
T |
C |
15: 85,703,807 (GRCm39) |
T710A |
probably benign |
Het |
| Plpbp |
T |
A |
8: 27,535,165 (GRCm39) |
|
probably null |
Het |
| Ppfibp2 |
T |
G |
7: 107,343,432 (GRCm39) |
F824V |
probably damaging |
Het |
| Ppp1r16b |
G |
A |
2: 158,593,098 (GRCm39) |
D226N |
probably damaging |
Het |
| Psg17 |
T |
A |
7: 18,550,836 (GRCm39) |
T340S |
possibly damaging |
Het |
| Pstpip2 |
T |
C |
18: 77,961,133 (GRCm39) |
S239P |
probably damaging |
Het |
| Ralbp1 |
A |
C |
17: 66,166,036 (GRCm39) |
S383A |
possibly damaging |
Het |
| Ranbp2 |
T |
A |
10: 58,300,969 (GRCm39) |
L613* |
probably null |
Het |
| Rgs11 |
T |
C |
17: 26,422,346 (GRCm39) |
V49A |
probably damaging |
Het |
| Ryr1 |
C |
T |
7: 28,791,693 (GRCm39) |
V1404I |
probably benign |
Het |
| Secisbp2 |
G |
A |
13: 51,833,869 (GRCm39) |
V670I |
possibly damaging |
Het |
| Slc22a13 |
T |
A |
9: 119,038,126 (GRCm39) |
M1L |
probably damaging |
Het |
| Slc5a1 |
A |
T |
5: 33,316,526 (GRCm39) |
I591L |
probably benign |
Het |
| Tacr2 |
T |
A |
10: 62,088,733 (GRCm39) |
V46E |
possibly damaging |
Het |
| Tet2 |
C |
T |
3: 133,194,039 (GRCm39) |
G132S |
probably damaging |
Het |
| Thsd7a |
G |
A |
6: 12,408,851 (GRCm39) |
R724* |
probably null |
Het |
| Tmco3 |
A |
T |
8: 13,341,782 (GRCm39) |
I19L |
probably benign |
Het |
| Tnfrsf1a |
T |
A |
6: 125,334,768 (GRCm39) |
L14Q |
probably benign |
Het |
| Tpm1 |
A |
T |
9: 66,935,371 (GRCm39) |
L248Q |
probably benign |
Het |
| Tprn |
T |
A |
2: 25,154,027 (GRCm39) |
I443N |
probably benign |
Het |
| Unc80 |
A |
T |
1: 66,651,290 (GRCm39) |
H1545L |
possibly damaging |
Het |
| Vmn2r97 |
T |
A |
17: 19,168,104 (GRCm39) |
M786K |
probably damaging |
Het |
| Wipi1 |
C |
T |
11: 109,494,645 (GRCm39) |
V63M |
probably damaging |
Het |
| Zcchc4 |
G |
A |
5: 52,976,724 (GRCm39) |
R506H |
unknown |
Het |
| Zfand6 |
A |
T |
7: 84,281,899 (GRCm39) |
V110E |
probably benign |
Het |
| Zfp866 |
A |
T |
8: 70,219,381 (GRCm39) |
Y80N |
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 |
|
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 |
|
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'- CAGAGCTCTGGGTTGCTGTATAAG -3'
(R):5'- TCTTAAAGCAGGGTGAAGCG -3'
Sequencing Primer
(F):5'- CTGTATAAGCCAGGGTTGTTACAGAC -3'
(R):5'- GGTGCACGCCTTTAATGC -3'
|
| Posted On |
2021-03-08 |
Incidental Mutation