Incidental Mutation 'R4769:Ncapd2'
| ID |
366330 |
| 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 |
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.971)
|
| Stock # |
R4769 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
6 |
| Chromosomal Location |
125144970-125168664 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to C
at 125162708 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Arginine
at position 179
(L179R)
|
| 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 damaging
Transcript: ENSMUST00000043848
AA Change: L179R
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000042260
Gene: ENSMUSG00000038252
AA Change: L179R
| 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: 99.1%
- 3x: 98.4%
- 10x: 96.7%
- 20x: 93.8%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 50 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 3425401B19Rik |
A |
C |
14: 32,382,174 (GRCm39) |
S1264A |
probably benign |
Het |
| Adamts13 |
T |
G |
2: 26,898,723 (GRCm39) |
Y1361* |
probably null |
Het |
| Ahrr |
A |
T |
13: 74,362,331 (GRCm39) |
D389E |
probably damaging |
Het |
| Alx3 |
T |
C |
3: 107,508,007 (GRCm39) |
F172S |
probably damaging |
Het |
| Antxrl |
A |
G |
14: 33,795,027 (GRCm39) |
H485R |
possibly damaging |
Het |
| Aox4 |
A |
G |
1: 58,298,307 (GRCm39) |
D1091G |
probably null |
Het |
| Btbd1 |
T |
A |
7: 81,455,558 (GRCm39) |
Q271L |
probably benign |
Het |
| Cd209c |
A |
T |
8: 3,994,953 (GRCm39) |
N70K |
probably benign |
Het |
| Cdc14a |
C |
T |
3: 116,088,399 (GRCm39) |
|
probably null |
Het |
| Cenpe |
A |
G |
3: 134,953,912 (GRCm39) |
M1641V |
probably benign |
Het |
| Clec2e |
G |
A |
6: 129,077,790 (GRCm39) |
T16I |
probably benign |
Het |
| Clp1 |
T |
C |
2: 84,556,219 (GRCm39) |
D87G |
possibly damaging |
Het |
| Dpy19l1 |
A |
T |
9: 24,337,444 (GRCm39) |
F517I |
probably damaging |
Het |
| Dzip3 |
T |
C |
16: 48,758,837 (GRCm39) |
N646S |
probably damaging |
Het |
| Ephx1 |
T |
A |
1: 180,823,543 (GRCm39) |
Y188F |
possibly damaging |
Het |
| Etfa |
A |
T |
9: 55,403,051 (GRCm39) |
H81Q |
possibly damaging |
Het |
| Gigyf2 |
T |
A |
1: 87,368,571 (GRCm39) |
F1084I |
probably damaging |
Het |
| Heatr3 |
T |
C |
8: 88,868,411 (GRCm39) |
|
probably null |
Het |
| Ift81 |
G |
T |
5: 122,732,656 (GRCm39) |
H293N |
probably benign |
Het |
| Igkv9-120 |
G |
T |
6: 68,027,351 (GRCm39) |
R88S |
possibly damaging |
Het |
| Il6 |
T |
G |
5: 30,223,076 (GRCm39) |
L114* |
probably null |
Het |
| Ism2 |
A |
T |
12: 87,346,355 (GRCm39) |
M42K |
probably benign |
Het |
| Lhx5 |
A |
G |
5: 120,574,503 (GRCm39) |
E269G |
probably benign |
Het |
| Marveld1 |
T |
G |
19: 42,136,434 (GRCm39) |
M116R |
possibly damaging |
Het |
| Micall2 |
A |
G |
5: 139,692,641 (GRCm39) |
S911P |
probably damaging |
Het |
| Mier1 |
G |
A |
4: 102,997,417 (GRCm39) |
R195H |
probably benign |
Het |
| Muc2 |
T |
A |
7: 141,286,260 (GRCm39) |
|
probably null |
Het |
| Mybbp1a |
A |
G |
11: 72,336,466 (GRCm39) |
K486R |
probably damaging |
Het |
| Nos1 |
C |
T |
5: 118,081,310 (GRCm39) |
Q1171* |
probably null |
Het |
| Nrg1 |
T |
A |
8: 32,408,000 (GRCm39) |
I78F |
probably damaging |
Het |
| Or5d36 |
T |
G |
2: 87,901,073 (GRCm39) |
T218P |
probably benign |
Het |
| Or6y1 |
T |
G |
1: 174,276,524 (GRCm39) |
F112V |
possibly damaging |
Het |
| Plek2 |
C |
T |
12: 78,953,664 (GRCm39) |
|
probably null |
Het |
| Plod2 |
A |
G |
9: 92,477,325 (GRCm39) |
H339R |
probably damaging |
Het |
| Pold1 |
C |
T |
7: 44,184,495 (GRCm39) |
C835Y |
probably damaging |
Het |
| Polr1a |
A |
G |
6: 71,927,852 (GRCm39) |
I868V |
probably benign |
Het |
| Prss54 |
C |
A |
8: 96,286,003 (GRCm39) |
V357L |
probably benign |
Het |
| Rbbp8 |
T |
A |
18: 11,855,727 (GRCm39) |
S625T |
probably damaging |
Het |
| Rgs1 |
A |
T |
1: 144,123,667 (GRCm39) |
L86Q |
probably damaging |
Het |
| Ripk4 |
T |
A |
16: 97,545,262 (GRCm39) |
N462Y |
probably damaging |
Het |
| Rsf1 |
C |
T |
7: 97,325,429 (GRCm39) |
L1011F |
probably damaging |
Het |
| Slc19a3 |
G |
A |
1: 82,997,062 (GRCm39) |
T382I |
probably damaging |
Het |
| Slc9a2 |
G |
A |
1: 40,765,534 (GRCm39) |
R308Q |
probably damaging |
Het |
| Top2b |
T |
A |
14: 16,398,991 (GRCm38) |
L537Q |
probably damaging |
Het |
| Trim45 |
C |
A |
3: 100,839,050 (GRCm39) |
|
probably benign |
Het |
| Umodl1 |
G |
T |
17: 31,202,976 (GRCm39) |
R443M |
possibly damaging |
Het |
| Vmn1r11 |
G |
A |
6: 57,114,597 (GRCm39) |
R87K |
probably damaging |
Het |
| Vmn1r78 |
T |
A |
7: 11,886,725 (GRCm39) |
I112N |
probably damaging |
Het |
| Zeb2 |
T |
G |
2: 44,886,447 (GRCm39) |
E825A |
probably damaging |
Het |
| Zfp930 |
A |
T |
8: 69,679,344 (GRCm39) |
I50F |
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 |
|
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 |
|
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'- AACGCACATTCCATTCAGTATG -3'
(R):5'- TATCCTCCATGGTACTGCCTGG -3'
Sequencing Primer
(F):5'- TGCATGTAATAGACACTCCTATGTAC -3'
(R):5'- GCCTTGCCTTGATACTGAGTGC -3'
|
| Posted On |
2015-12-21 |
Incidental Mutation