Incidental Mutation 'R1698:Ncapd2'
ID |
192407 |
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 |
039731-MU
|
Accession Numbers |
|
Essential gene? |
Probably essential
(E-score: 0.971)
|
Stock # |
R1698 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
6 |
Chromosomal Location |
125144970-125168664 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to T
at 125145553 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Glutamic Acid to Lysine
at position 1365
(E1365K)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000042260
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000043848]
[ENSMUST00000073605]
[ENSMUST00000117757]
[ENSMUST00000118875]
[ENSMUST00000182052]
[ENSMUST00000183272]
[ENSMUST00000182277]
|
AlphaFold |
no structure available at present |
Predicted Effect |
probably null
Transcript: ENSMUST00000043848
AA Change: E1365K
PolyPhen 2
Score 0.390 (Sensitivity: 0.90; Specificity: 0.89)
|
SMART Domains |
Protein: ENSMUSP00000042260 Gene: ENSMUSG00000038252 AA Change: E1365K
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: ENSMUST00000188119
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000191080
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000185624
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000188665
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000182670
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000192506
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000189706
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000186667
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000188410
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000182115
|
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: ENSMUST00000182277
|
SMART Domains |
Protein: ENSMUSP00000138295 Gene: ENSMUSG00000057666
Domain | Start | End | E-Value | Type |
Gp_dh_N
|
2 |
57 |
2.75e-8 |
SMART |
|
Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.4%
- 10x: 96.6%
- 20x: 93.6%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 82 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
A2m |
A |
C |
6: 121,622,117 (GRCm39) |
E340A |
possibly damaging |
Het |
Abca13 |
A |
G |
11: 9,264,507 (GRCm39) |
D2963G |
probably benign |
Het |
Actn3 |
T |
C |
19: 4,912,235 (GRCm39) |
D783G |
possibly damaging |
Het |
Adamtsl2 |
A |
G |
2: 26,993,139 (GRCm39) |
E723G |
possibly damaging |
Het |
Agrn |
G |
T |
4: 156,251,015 (GRCm39) |
Q1931K |
probably benign |
Het |
Ankrd27 |
G |
A |
7: 35,313,946 (GRCm39) |
A426T |
probably benign |
Het |
Atg9b |
C |
A |
5: 24,593,186 (GRCm39) |
G406C |
probably damaging |
Het |
C1ra |
A |
T |
6: 124,499,725 (GRCm39) |
Q637L |
probably benign |
Het |
Cdhr2 |
A |
T |
13: 54,867,394 (GRCm39) |
M438L |
probably benign |
Het |
Cep350 |
T |
C |
1: 155,829,104 (GRCm39) |
I267V |
possibly damaging |
Het |
Chrna5 |
A |
G |
9: 54,911,926 (GRCm39) |
Y138C |
probably damaging |
Het |
Chst3 |
T |
A |
10: 60,021,525 (GRCm39) |
M441L |
probably benign |
Het |
Cmya5 |
G |
A |
13: 93,200,027 (GRCm39) |
P3434S |
probably benign |
Het |
Cog2 |
T |
A |
8: 125,252,422 (GRCm39) |
L42Q |
probably damaging |
Het |
Cpq |
A |
T |
15: 33,250,272 (GRCm39) |
I210F |
probably benign |
Het |
Crnn |
C |
A |
3: 93,055,765 (GRCm39) |
Q184K |
probably damaging |
Het |
Csnka2ip |
A |
T |
16: 64,298,422 (GRCm39) |
Y647* |
probably null |
Het |
D5Ertd579e |
C |
T |
5: 36,761,874 (GRCm39) |
R1331H |
probably benign |
Het |
Dennd5a |
C |
T |
7: 109,516,587 (GRCm39) |
|
probably null |
Het |
Dync1h1 |
A |
G |
12: 110,593,426 (GRCm39) |
Q1231R |
possibly damaging |
Het |
Erbin |
T |
A |
13: 103,970,239 (GRCm39) |
I1126F |
possibly damaging |
Het |
Fastkd1 |
T |
C |
2: 69,532,813 (GRCm39) |
D518G |
probably benign |
Het |
Gcc1 |
A |
G |
6: 28,421,110 (GRCm39) |
L69P |
possibly damaging |
Het |
Gkn1 |
T |
C |
6: 87,324,151 (GRCm39) |
Y119C |
probably damaging |
Het |
Gmpr |
T |
G |
13: 45,670,520 (GRCm39) |
W81G |
probably benign |
Het |
Gyg1 |
T |
A |
3: 20,192,215 (GRCm39) |
I236F |
probably benign |
Het |
Hcrtr2 |
T |
C |
9: 76,153,735 (GRCm39) |
Y219C |
probably damaging |
Het |
Hmcn1 |
G |
A |
1: 150,441,120 (GRCm39) |
Q5379* |
probably null |
Het |
Kank1 |
T |
C |
19: 25,388,681 (GRCm39) |
C785R |
probably benign |
Het |
Lrp1b |
A |
T |
2: 40,741,818 (GRCm39) |
C3036* |
probably null |
Het |
Mdga2 |
T |
C |
12: 66,736,109 (GRCm39) |
D373G |
probably damaging |
Het |
Mgat2 |
A |
T |
12: 69,232,493 (GRCm39) |
I356F |
probably benign |
Het |
Miga2 |
A |
G |
2: 30,268,009 (GRCm39) |
D346G |
probably damaging |
Het |
Mprip |
T |
A |
11: 59,651,084 (GRCm39) |
L1596Q |
possibly damaging |
Het |
Mroh2b |
G |
A |
15: 4,943,622 (GRCm39) |
R386Q |
probably benign |
Het |
Mst1r |
T |
A |
9: 107,797,179 (GRCm39) |
S1349R |
probably benign |
Het |
Mtmr3 |
C |
T |
11: 4,442,825 (GRCm39) |
R403H |
possibly damaging |
Het |
Mycbpap |
G |
A |
11: 94,398,969 (GRCm39) |
Q460* |
probably null |
Het |
Myo9a |
T |
C |
9: 59,775,464 (GRCm39) |
V1025A |
probably benign |
Het |
Nkiras2 |
C |
A |
11: 100,515,989 (GRCm39) |
D105E |
probably damaging |
Het |
Nolc1 |
T |
G |
19: 46,069,870 (GRCm39) |
|
probably null |
Het |
Nos1 |
T |
C |
5: 118,005,297 (GRCm39) |
F6L |
probably benign |
Het |
Or10j3 |
A |
T |
1: 173,030,938 (GRCm39) |
N5I |
probably damaging |
Het |
Or12e1 |
G |
T |
2: 87,022,081 (GRCm39) |
V17L |
probably benign |
Het |
Or2t46 |
T |
C |
11: 58,472,077 (GRCm39) |
Y136H |
probably damaging |
Het |
Or2w1b |
C |
T |
13: 21,300,735 (GRCm39) |
T291I |
probably benign |
Het |
Or4f54 |
T |
A |
2: 111,122,905 (GRCm39) |
C97* |
probably null |
Het |
Or8b46 |
T |
A |
9: 38,450,552 (GRCm39) |
Y120* |
probably null |
Het |
Pfkm |
A |
G |
15: 98,026,199 (GRCm39) |
E598G |
possibly damaging |
Het |
Phf2 |
A |
T |
13: 48,961,106 (GRCm39) |
D861E |
unknown |
Het |
Polr2a |
A |
G |
11: 69,630,703 (GRCm39) |
|
probably null |
Het |
Popdc2 |
G |
A |
16: 38,189,853 (GRCm39) |
V167M |
probably damaging |
Het |
Ptpn22 |
T |
C |
3: 103,793,114 (GRCm39) |
S422P |
probably benign |
Het |
Rasa2 |
T |
C |
9: 96,450,428 (GRCm39) |
K490R |
possibly damaging |
Het |
Rbfox3 |
T |
A |
11: 118,386,047 (GRCm39) |
D286V |
probably damaging |
Het |
Rdh13 |
A |
G |
7: 4,430,790 (GRCm39) |
W223R |
probably damaging |
Het |
Riok3 |
T |
C |
18: 12,261,986 (GRCm39) |
S7P |
probably benign |
Het |
Rnaseh2b |
A |
G |
14: 62,591,081 (GRCm39) |
E144G |
probably benign |
Het |
Rnf20 |
C |
T |
4: 49,651,498 (GRCm39) |
Q655* |
probably null |
Het |
Rpap2 |
T |
C |
5: 107,751,416 (GRCm39) |
Y8H |
probably damaging |
Het |
Slc5a10 |
T |
C |
11: 61,600,428 (GRCm39) |
Y181C |
probably benign |
Het |
Snd1 |
G |
T |
6: 28,888,252 (GRCm39) |
G896* |
probably null |
Het |
Spast |
C |
T |
17: 74,663,155 (GRCm39) |
Q158* |
probably null |
Het |
Tas2r104 |
G |
A |
6: 131,662,547 (GRCm39) |
S54F |
probably damaging |
Het |
Tcaf2 |
C |
T |
6: 42,604,951 (GRCm39) |
W611* |
probably null |
Het |
Thoc2l |
C |
T |
5: 104,668,376 (GRCm39) |
A966V |
probably benign |
Het |
Timp4 |
G |
A |
6: 115,227,364 (GRCm39) |
|
probably null |
Het |
Tmem45a |
G |
A |
16: 56,643,933 (GRCm39) |
S72L |
probably benign |
Het |
Tnrc18 |
T |
C |
5: 142,774,458 (GRCm39) |
T124A |
possibly damaging |
Het |
Tns2 |
C |
T |
15: 102,017,369 (GRCm39) |
R281C |
probably damaging |
Het |
Ttn |
T |
C |
2: 76,773,259 (GRCm39) |
D2381G |
probably damaging |
Het |
Uevld |
T |
C |
7: 46,605,372 (GRCm39) |
T41A |
possibly damaging |
Het |
Ugcg |
C |
T |
4: 59,207,798 (GRCm39) |
P46S |
probably benign |
Het |
Unc5d |
T |
C |
8: 29,186,506 (GRCm39) |
E527G |
probably damaging |
Het |
Vmn2r125 |
C |
T |
4: 156,703,333 (GRCm39) |
T237I |
probably benign |
Het |
Vmn2r63 |
A |
C |
7: 42,583,038 (GRCm39) |
I59S |
probably benign |
Het |
Vps72 |
G |
A |
3: 95,026,006 (GRCm39) |
S106N |
probably benign |
Het |
Zan |
A |
C |
5: 137,407,931 (GRCm39) |
|
probably benign |
Het |
Zbtb38 |
T |
C |
9: 96,567,515 (GRCm39) |
K1190E |
probably benign |
Het |
Zc3h6 |
T |
C |
2: 128,859,278 (GRCm39) |
V1103A |
probably benign |
Het |
Zfp407 |
G |
A |
18: 84,580,282 (GRCm39) |
T277I |
probably damaging |
Het |
Zfp804b |
A |
G |
5: 6,819,509 (GRCm39) |
S1149P |
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 |
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'- TCATCCAGTAAGATACCCTGCACGG -3'
(R):5'- TCTCAAGGCTACAGCCTCTGACTTC -3'
Sequencing Primer
(F):5'- TGGATCTCAAAGTAAACACATGCG -3'
(R):5'- CTGTAGACTCAGACAATGACTTTG -3'
|
Posted On |
2014-05-14 |