Incidental Mutation 'R5823:Ncapd2'
| ID |
450032 |
| 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 |
043215-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.971)
|
| Stock # |
R5823 (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 G
at 125145663 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 1328
(V1328A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000042260
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000043848]
[ENSMUST00000073605]
[ENSMUST00000117757]
[ENSMUST00000118875]
[ENSMUST00000182052]
[ENSMUST00000182277]
[ENSMUST00000183272]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000043848
AA Change: V1328A
PolyPhen 2
Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)
|
| SMART Domains |
Protein: ENSMUSP00000042260
Gene: ENSMUSG00000038252
AA Change: V1328A
| 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 |
probably benign
Transcript: ENSMUST00000073605
|
| SMART Domains |
Protein: ENSMUSP00000073289
Gene: ENSMUSG00000057666
| Domain | Start | End | E-Value | Type |
|---|
|
Gp_dh_N
|
2 |
143 |
4.2e-90 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000117757
|
| SMART Domains |
Protein: ENSMUSP00000113942
Gene: ENSMUSG00000057666
| Domain | Start | End | E-Value | Type |
|---|
|
Gp_dh_N
|
2 |
150 |
7.33e-109 |
SMART |
|
Pfam:Gp_dh_C
|
155 |
312 |
5.2e-74 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000118875
|
| SMART Domains |
Protein: ENSMUSP00000113213
Gene: ENSMUSG00000057666
| Domain | Start | End | E-Value | Type |
|---|
|
Gp_dh_N
|
2 |
150 |
7.33e-109 |
SMART |
|
Pfam:Gp_dh_C
|
155 |
312 |
7.4e-77 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000144205
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000144588
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000182052
|
| SMART Domains |
Protein: ENSMUSP00000138403
Gene: ENSMUSG00000057666
| Domain | Start | End | E-Value | Type |
|---|
|
Gp_dh_N
|
1 |
55 |
2.96e-4 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000186667
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000185624
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000188410
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000188665
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000191080
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000182115
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000188119
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000182670
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000189706
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000192506
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000182277
|
| SMART Domains |
Protein: ENSMUSP00000138295
Gene: ENSMUSG00000057666
| Domain | Start | End | E-Value | Type |
|---|
|
Gp_dh_N
|
2 |
57 |
2.75e-8 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000183272
|
| SMART Domains |
Protein: ENSMUSP00000138508
Gene: ENSMUSG00000057666
| Domain | Start | End | E-Value | Type |
|---|
|
Gp_dh_N
|
2 |
107 |
7.93e-64 |
SMART |
|
Pfam:Gp_dh_C
|
112 |
269 |
3e-76 |
PFAM |
|
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.5%
- 10x: 97.7%
- 20x: 92.7%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 39 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930505A04Rik |
C |
T |
11: 30,376,349 (GRCm39) |
V173M |
probably damaging |
Het |
| Acsl3 |
G |
T |
1: 78,666,003 (GRCm39) |
R143L |
probably benign |
Het |
| Ankrd11 |
A |
T |
8: 123,622,529 (GRCm39) |
I420K |
probably benign |
Het |
| Aoc1l2 |
T |
A |
6: 48,907,486 (GRCm39) |
I162N |
probably damaging |
Het |
| Cwh43 |
A |
G |
5: 73,569,213 (GRCm39) |
E85G |
probably benign |
Het |
| Dnah1 |
G |
T |
14: 30,988,375 (GRCm39) |
F3442L |
possibly damaging |
Het |
| Dock6 |
T |
A |
9: 21,716,124 (GRCm39) |
N1737I |
probably damaging |
Het |
| Fcf1 |
A |
G |
12: 85,020,921 (GRCm39) |
Y55C |
possibly damaging |
Het |
| Fer1l6 |
T |
A |
15: 58,462,352 (GRCm39) |
Y802* |
probably null |
Het |
| Fgf9 |
T |
G |
14: 58,320,759 (GRCm39) |
S10A |
probably damaging |
Het |
| Fhad1 |
A |
G |
4: 141,682,617 (GRCm39) |
I508T |
possibly damaging |
Het |
| Flnc |
T |
C |
6: 29,461,201 (GRCm39) |
V2692A |
probably damaging |
Het |
| Gm38119 |
G |
T |
3: 92,645,380 (GRCm39) |
H71Q |
unknown |
Het |
| Hcn1 |
A |
T |
13: 117,739,388 (GRCm39) |
H50L |
unknown |
Het |
| Helz2 |
T |
C |
2: 180,878,189 (GRCm39) |
T870A |
possibly damaging |
Het |
| Iqcf4 |
T |
C |
9: 106,445,800 (GRCm39) |
I116V |
probably benign |
Het |
| Lama5 |
T |
A |
2: 179,834,285 (GRCm39) |
I1383F |
probably benign |
Het |
| Lmo2 |
C |
T |
2: 103,811,417 (GRCm39) |
T150I |
probably damaging |
Het |
| Mgat4f |
T |
A |
1: 134,318,655 (GRCm39) |
W476R |
probably damaging |
Het |
| Myh13 |
A |
G |
11: 67,251,294 (GRCm39) |
E1391G |
probably damaging |
Het |
| Mylk |
T |
A |
16: 34,715,317 (GRCm39) |
|
probably null |
Het |
| Nat10 |
A |
T |
2: 103,560,612 (GRCm39) |
V731D |
probably damaging |
Het |
| Nfu1 |
C |
A |
6: 87,002,541 (GRCm39) |
Q207K |
probably damaging |
Het |
| Nipsnap2 |
T |
A |
5: 129,816,833 (GRCm39) |
|
probably null |
Het |
| Npc1 |
T |
C |
18: 12,324,846 (GRCm39) |
K1216E |
possibly damaging |
Het |
| Or2r3 |
C |
A |
6: 42,448,906 (GRCm39) |
V69L |
probably benign |
Het |
| Phf3 |
T |
C |
1: 30,843,764 (GRCm39) |
I1732V |
probably damaging |
Het |
| Rasgrp4 |
G |
T |
7: 28,837,142 (GRCm39) |
R67L |
probably benign |
Het |
| Rubcn |
T |
C |
16: 32,670,091 (GRCm39) |
D88G |
probably damaging |
Het |
| Slc30a2 |
T |
C |
4: 134,073,289 (GRCm39) |
I112T |
probably damaging |
Het |
| Slc35d2 |
A |
G |
13: 64,268,419 (GRCm39) |
I78T |
probably damaging |
Het |
| Slc9a4 |
T |
A |
1: 40,658,277 (GRCm39) |
M600K |
probably damaging |
Het |
| Slfn8 |
A |
G |
11: 82,907,562 (GRCm39) |
I327T |
probably benign |
Het |
| Tas2r118 |
A |
G |
6: 23,969,470 (GRCm39) |
I197T |
probably benign |
Het |
| Tex15 |
A |
G |
8: 34,060,962 (GRCm39) |
I405V |
possibly damaging |
Het |
| Thsd7b |
T |
C |
1: 129,605,821 (GRCm39) |
S521P |
probably benign |
Het |
| Trim36 |
A |
G |
18: 46,302,407 (GRCm39) |
L535P |
probably damaging |
Het |
| Trim63 |
A |
T |
4: 134,043,842 (GRCm39) |
I102F |
probably damaging |
Het |
| Wdr47 |
G |
A |
3: 108,550,401 (GRCm39) |
V809M |
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 |
|
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 |
|
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'- AATGAATCCACAGCTAGGCAAG -3'
(R):5'- TTTGAAACTGGCCAGGGAGG -3'
Sequencing Primer
(F):5'- TAGGCAAGCCCCACTGGAAG -3'
(R):5'- GAGCCCTGTCTGCCAAGAAAC -3'
|
| Posted On |
2016-12-20 |
Incidental Mutation