Incidental Mutation 'IGL01307:Ncapd2'
ID |
73477 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
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 # |
IGL01307
|
Quality Score |
|
Status
|
|
Chromosome |
6 |
Chromosomal Location |
125144970-125168664 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 125145582 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Valine to Alanine
at position 1355
(V1355A)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000042260
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000043848]
[ENSMUST00000073605]
[ENSMUST00000117757]
[ENSMUST00000118875]
[ENSMUST00000182277]
[ENSMUST00000183272]
[ENSMUST00000182052]
|
AlphaFold |
no structure available at present |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000043848
AA Change: V1355A
PolyPhen 2
Score 0.555 (Sensitivity: 0.88; Specificity: 0.91)
|
SMART Domains |
Protein: ENSMUSP00000042260 Gene: ENSMUSG00000038252 AA Change: V1355A
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 |
noncoding transcript
Transcript: ENSMUST00000185624
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000186667
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000188410
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000188665
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000191080
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000182670
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000189706
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000188119
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000182115
|
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 |
|
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: ENSMUST00000192506
|
Coding Region Coverage |
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 48 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abca13 |
T |
A |
11: 9,247,159 (GRCm39) |
M2302K |
possibly damaging |
Het |
Actl9 |
A |
G |
17: 33,653,152 (GRCm39) |
E404G |
probably damaging |
Het |
Adamts12 |
A |
T |
15: 11,237,632 (GRCm39) |
I314L |
possibly damaging |
Het |
Card6 |
C |
A |
15: 5,129,484 (GRCm39) |
M637I |
possibly damaging |
Het |
Ccdc122 |
G |
A |
14: 77,329,516 (GRCm39) |
|
probably benign |
Het |
Cdh10 |
A |
G |
15: 18,899,886 (GRCm39) |
D71G |
probably benign |
Het |
Cdk15 |
A |
T |
1: 59,326,955 (GRCm39) |
Y214F |
probably benign |
Het |
Cdon |
A |
G |
9: 35,368,860 (GRCm39) |
K365E |
probably benign |
Het |
Cyp2c37 |
T |
C |
19: 39,981,023 (GRCm39) |
V47A |
probably benign |
Het |
Ddc |
T |
A |
11: 11,789,462 (GRCm39) |
D271V |
probably damaging |
Het |
Dnah6 |
G |
A |
6: 73,042,708 (GRCm39) |
A3290V |
probably damaging |
Het |
Dtl |
A |
T |
1: 191,302,811 (GRCm39) |
S20T |
possibly damaging |
Het |
Egf |
A |
C |
3: 129,533,642 (GRCm39) |
I66S |
probably damaging |
Het |
Eif4a3 |
T |
C |
11: 119,184,387 (GRCm39) |
K268E |
probably damaging |
Het |
Fbxl16 |
A |
T |
17: 26,038,338 (GRCm39) |
|
probably benign |
Het |
Fez2 |
C |
T |
17: 78,689,029 (GRCm39) |
|
probably benign |
Het |
Fras1 |
C |
A |
5: 96,929,551 (GRCm39) |
T3985K |
probably benign |
Het |
Gbp4 |
T |
C |
5: 105,284,887 (GRCm39) |
M1V |
probably null |
Het |
Gpnmb |
A |
G |
6: 49,022,299 (GRCm39) |
D143G |
probably benign |
Het |
Grm5 |
A |
T |
7: 87,724,220 (GRCm39) |
T837S |
probably damaging |
Het |
Hmcn1 |
T |
C |
1: 150,620,752 (GRCm39) |
T1153A |
possibly damaging |
Het |
Hp |
C |
T |
8: 110,302,415 (GRCm39) |
V178I |
probably benign |
Het |
Macf1 |
A |
T |
4: 123,276,922 (GRCm39) |
V4061E |
probably damaging |
Het |
Msto1 |
C |
A |
3: 88,820,993 (GRCm39) |
R34L |
probably benign |
Het |
Mtf2 |
C |
T |
5: 108,254,756 (GRCm39) |
T519M |
probably damaging |
Het |
Myo3a |
T |
A |
2: 22,448,301 (GRCm39) |
N25K |
probably damaging |
Het |
Nhlrc2 |
C |
A |
19: 56,540,231 (GRCm39) |
Y73* |
probably null |
Het |
Nwd2 |
A |
T |
5: 63,965,626 (GRCm39) |
S1737C |
possibly damaging |
Het |
Or1p1 |
T |
A |
11: 74,180,254 (GRCm39) |
C261S |
possibly damaging |
Het |
Osmr |
A |
G |
15: 6,873,908 (GRCm39) |
V163A |
probably damaging |
Het |
Palm3 |
T |
C |
8: 84,756,074 (GRCm39) |
S529P |
possibly damaging |
Het |
Pcnt |
A |
G |
10: 76,247,422 (GRCm39) |
Y1037H |
probably damaging |
Het |
Pkhd1l1 |
T |
C |
15: 44,393,425 (GRCm39) |
I1920T |
possibly damaging |
Het |
Plekha7 |
A |
G |
7: 115,744,479 (GRCm39) |
|
probably benign |
Het |
Psd |
C |
T |
19: 46,303,097 (GRCm39) |
G762R |
probably damaging |
Het |
Psmb8 |
A |
G |
17: 34,418,210 (GRCm39) |
T51A |
probably benign |
Het |
Rbm12 |
A |
C |
2: 155,937,302 (GRCm39) |
|
probably benign |
Het |
Rictor |
T |
A |
15: 6,804,085 (GRCm39) |
|
probably null |
Het |
Slc24a5 |
G |
A |
2: 124,922,800 (GRCm39) |
G158S |
probably damaging |
Het |
Spata31f1a |
G |
T |
4: 42,850,963 (GRCm39) |
L398I |
probably benign |
Het |
Stag1 |
A |
G |
9: 100,833,841 (GRCm39) |
|
probably benign |
Het |
Tln2 |
A |
G |
9: 67,302,749 (GRCm39) |
M74T |
probably benign |
Het |
Trim24 |
C |
A |
6: 37,942,570 (GRCm39) |
D957E |
possibly damaging |
Het |
Trpa1 |
A |
T |
1: 14,966,771 (GRCm39) |
M531K |
probably benign |
Het |
Ttn |
A |
G |
2: 76,736,637 (GRCm39) |
Y4376H |
possibly damaging |
Het |
Twsg1 |
T |
C |
17: 66,255,646 (GRCm39) |
|
probably benign |
Het |
Usp34 |
T |
A |
11: 23,367,676 (GRCm39) |
V1671E |
probably damaging |
Het |
Vwa5b2 |
A |
G |
16: 20,423,020 (GRCm39) |
D1006G |
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 |
|
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 |
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 |
|
|
Posted On |
2013-10-07 |