Incidental Mutation 'R4936:Ncapd2'
ID |
380375 |
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 |
042536-MU
|
Accession Numbers |
|
Essential gene? |
Probably essential
(E-score: 0.969)
|
Stock # |
R4936 (G1)
|
Quality Score |
155 |
Status
|
Not validated
|
Chromosome |
6 |
Chromosomal Location |
125144970-125168664 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to T
at 125146803 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Arginine to Histidine
at position 1261
(R1261H)
|
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 benign
Transcript: ENSMUST00000043848
AA Change: R1261H
PolyPhen 2
Score 0.179 (Sensitivity: 0.92; Specificity: 0.87)
|
SMART Domains |
Protein: ENSMUSP00000042260 Gene: ENSMUSG00000038252 AA Change: R1261H
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: ENSMUST00000188665
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000188410
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000191080
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000185624
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000189706
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000182670
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000192506
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000182115
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000186667
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000188119
|
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: 98.9%
- 3x: 98.0%
- 10x: 95.0%
- 20x: 87.5%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 84 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
2300002M23Rik |
T |
A |
17: 35,879,212 (GRCm39) |
F183L |
possibly damaging |
Het |
4930590J08Rik |
T |
A |
6: 91,921,245 (GRCm39) |
M775K |
probably damaging |
Het |
Actn1 |
T |
G |
12: 80,219,772 (GRCm39) |
I700L |
probably benign |
Het |
Adam5 |
T |
C |
8: 25,276,287 (GRCm39) |
Y460C |
probably damaging |
Het |
Akna |
C |
T |
4: 63,313,502 (GRCm39) |
G207E |
probably damaging |
Het |
Ank2 |
T |
A |
3: 126,748,688 (GRCm39) |
H527L |
possibly damaging |
Het |
Anks1 |
C |
A |
17: 28,207,779 (GRCm39) |
N383K |
probably damaging |
Het |
Apba3 |
C |
T |
10: 81,105,204 (GRCm39) |
|
probably null |
Het |
Atp9b |
C |
A |
18: 80,779,308 (GRCm39) |
V1121F |
possibly damaging |
Het |
Bsn |
T |
C |
9: 107,988,960 (GRCm39) |
Y2264C |
probably damaging |
Het |
Bst1 |
A |
G |
5: 43,997,799 (GRCm39) |
D266G |
probably damaging |
Het |
Cep55 |
A |
G |
19: 38,060,202 (GRCm39) |
|
probably null |
Het |
Ces4a |
G |
A |
8: 105,864,729 (GRCm39) |
G69S |
probably damaging |
Het |
Ckb |
T |
C |
12: 111,637,664 (GRCm39) |
K156E |
probably benign |
Het |
Cln3 |
T |
A |
7: 126,174,393 (GRCm39) |
H315L |
probably damaging |
Het |
Cnot6l |
A |
G |
5: 96,227,796 (GRCm39) |
F479S |
probably damaging |
Het |
Col1a1 |
A |
G |
11: 94,837,958 (GRCm39) |
D826G |
unknown |
Het |
Cyp27a1 |
T |
C |
1: 74,774,564 (GRCm39) |
V194A |
probably benign |
Het |
Dis3l2 |
C |
T |
1: 86,971,890 (GRCm39) |
P643S |
probably benign |
Het |
Dpf3 |
T |
C |
12: 83,378,740 (GRCm39) |
D108G |
probably damaging |
Het |
Eif2b4 |
C |
T |
5: 31,350,241 (GRCm39) |
G27D |
probably benign |
Het |
Eif4a1 |
T |
G |
11: 69,563,251 (GRCm39) |
|
probably benign |
Het |
Espl1 |
A |
T |
15: 102,213,372 (GRCm39) |
D566V |
probably damaging |
Het |
Ext2 |
T |
A |
2: 93,644,024 (GRCm39) |
R86* |
probably null |
Het |
Fasn |
A |
T |
11: 120,706,911 (GRCm39) |
F914I |
probably damaging |
Het |
Fbf1 |
A |
G |
11: 116,043,378 (GRCm39) |
L477P |
probably benign |
Het |
Fsd1 |
A |
T |
17: 56,303,452 (GRCm39) |
K441N |
possibly damaging |
Het |
Fsip2 |
T |
A |
2: 82,815,384 (GRCm39) |
S3706T |
probably benign |
Het |
Gabra5 |
A |
T |
7: 57,058,547 (GRCm39) |
N400K |
probably benign |
Het |
Gimap8 |
G |
T |
6: 48,633,068 (GRCm39) |
G296W |
probably damaging |
Het |
Gli2 |
A |
G |
1: 118,763,870 (GRCm39) |
V1427A |
probably benign |
Het |
Gm7334 |
A |
T |
17: 51,005,855 (GRCm39) |
Y47F |
probably damaging |
Het |
Gm8674 |
T |
G |
13: 50,054,791 (GRCm39) |
|
noncoding transcript |
Het |
Gmeb2 |
G |
T |
2: 180,896,039 (GRCm39) |
T377K |
probably benign |
Het |
Gp9 |
T |
A |
6: 87,756,229 (GRCm39) |
D81E |
probably benign |
Het |
Il5ra |
T |
A |
6: 106,715,123 (GRCm39) |
I212F |
possibly damaging |
Het |
Klhl18 |
G |
T |
9: 110,258,029 (GRCm39) |
N470K |
possibly damaging |
Het |
Lfng |
G |
T |
5: 140,598,150 (GRCm39) |
|
probably null |
Het |
Lpo |
A |
G |
11: 87,701,166 (GRCm39) |
I430T |
probably benign |
Het |
Lrrc31 |
C |
T |
3: 30,743,417 (GRCm39) |
D183N |
probably damaging |
Het |
Meis2 |
T |
C |
2: 115,694,893 (GRCm39) |
T410A |
probably benign |
Het |
Myo6 |
A |
G |
9: 80,214,963 (GRCm39) |
D1232G |
probably damaging |
Het |
Nfkb1 |
C |
T |
3: 135,319,743 (GRCm39) |
V251M |
probably damaging |
Het |
Nmbr |
C |
A |
10: 14,642,730 (GRCm39) |
H96Q |
probably damaging |
Het |
Nop14 |
C |
T |
5: 34,809,737 (GRCm39) |
R256H |
probably damaging |
Het |
Nqo2 |
T |
A |
13: 34,165,501 (GRCm39) |
Y133N |
probably damaging |
Het |
Or1f12 |
T |
C |
13: 21,721,357 (GRCm39) |
I273V |
probably benign |
Het |
Or5w20 |
A |
G |
2: 87,727,157 (GRCm39) |
I213V |
probably benign |
Het |
Pbld2 |
C |
A |
10: 62,888,017 (GRCm39) |
S168R |
probably damaging |
Het |
Pcdhb7 |
G |
T |
18: 37,475,202 (GRCm39) |
G113* |
probably null |
Het |
Pcdhb7 |
G |
T |
18: 37,475,203 (GRCm39) |
G113V |
probably damaging |
Het |
Pdgfra |
A |
T |
5: 75,355,687 (GRCm39) |
T1066S |
probably damaging |
Het |
Prdm8 |
A |
T |
5: 98,332,881 (GRCm39) |
|
probably null |
Het |
Prdm8 |
G |
T |
5: 98,332,882 (GRCm39) |
|
probably null |
Het |
Prkg1 |
T |
C |
19: 30,563,775 (GRCm39) |
Y479C |
probably benign |
Het |
Pudp |
T |
C |
18: 50,701,539 (GRCm39) |
T65A |
probably benign |
Het |
Rbbp6 |
C |
T |
7: 122,598,926 (GRCm39) |
|
probably benign |
Het |
Rcc1 |
C |
G |
4: 132,063,046 (GRCm39) |
V187L |
probably damaging |
Het |
Rims2 |
T |
A |
15: 39,301,124 (GRCm39) |
M285K |
probably damaging |
Het |
Rtkn2 |
T |
C |
10: 67,877,745 (GRCm39) |
*602Q |
probably null |
Het |
Rxfp3 |
T |
G |
15: 11,036,866 (GRCm39) |
S169R |
probably damaging |
Het |
Sardh |
T |
C |
2: 27,118,253 (GRCm39) |
|
probably null |
Het |
Slc24a2 |
A |
T |
4: 87,145,584 (GRCm39) |
F157I |
probably damaging |
Het |
Slc25a20 |
T |
C |
9: 108,559,191 (GRCm39) |
Y186H |
probably damaging |
Het |
Slc25a24 |
A |
G |
3: 109,070,864 (GRCm39) |
R408G |
probably damaging |
Het |
Slc44a5 |
T |
G |
3: 153,959,353 (GRCm39) |
I348S |
probably damaging |
Het |
Slc8a2 |
A |
T |
7: 15,868,100 (GRCm39) |
K111* |
probably null |
Het |
Smc5 |
A |
G |
19: 23,211,367 (GRCm39) |
V589A |
probably damaging |
Het |
Thbd |
A |
T |
2: 148,249,655 (GRCm39) |
I71N |
probably damaging |
Het |
Thsd7b |
T |
C |
1: 129,605,882 (GRCm39) |
M541T |
probably benign |
Het |
Tie1 |
T |
A |
4: 118,341,968 (GRCm39) |
|
silent |
Het |
Tln1 |
A |
G |
4: 43,547,522 (GRCm39) |
F813S |
possibly damaging |
Het |
Tnrc18 |
A |
T |
5: 142,751,732 (GRCm39) |
L1191* |
probably null |
Het |
Tubb2a |
A |
C |
13: 34,259,240 (GRCm39) |
Y183* |
probably null |
Het |
Ubr4 |
T |
A |
4: 139,123,877 (GRCm39) |
V343E |
probably damaging |
Het |
Vmn2r93 |
A |
T |
17: 18,524,327 (GRCm39) |
D107V |
possibly damaging |
Het |
Vwa5a |
T |
G |
9: 38,647,494 (GRCm39) |
S624R |
probably benign |
Het |
Wwox |
G |
A |
8: 115,433,098 (GRCm39) |
V255I |
probably benign |
Het |
Wwp1 |
T |
C |
4: 19,638,804 (GRCm39) |
K546E |
probably damaging |
Het |
Xirp2 |
T |
A |
2: 67,340,163 (GRCm39) |
F801L |
possibly damaging |
Het |
Zfp407 |
T |
C |
18: 84,577,589 (GRCm39) |
I1175V |
probably benign |
Het |
Zfp646 |
T |
A |
7: 127,480,933 (GRCm39) |
C1037S |
possibly damaging |
Het |
Zfp786 |
A |
T |
6: 47,798,202 (GRCm39) |
C245* |
probably null |
Het |
Zfp827 |
T |
C |
8: 79,787,812 (GRCm39) |
V326A |
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 |
R4769:Ncapd2
|
UTSW |
6 |
125,162,708 (GRCm39) |
missense |
probably damaging |
1.00 |
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'- GGACCAGGAATTAAGATCTGGTC -3'
(R):5'- TGCTAAGAGGGACCTTTCAGAAG -3'
Sequencing Primer
(F):5'- AAGATCTGGTCTTAGTCACTCTG -3'
(R):5'- CCTTTCAGAAGAGAGAGTCCCTG -3'
|
Posted On |
2016-04-15 |