Incidental Mutation 'R6406:Ncapd2'
| ID |
516301 |
| 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 |
044551-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.971)
|
| Stock # |
R6406 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
6 |
| Chromosomal Location |
125144970-125168664 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to A
at 125150841 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Alanine to Serine
at position 785
(A785S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000042260
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000043848]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000043848
AA Change: A785S
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000042260
Gene: ENSMUSG00000038252
AA Change: A785S
| 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: ENSMUST00000185624
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000186561
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000186667
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000188119
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000188306
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000188410
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000188665
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000189706
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000191080
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.5%
- 20x: 98.3%
|
| Validation Efficiency |
96% (48/50) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 49 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aars2 |
C |
T |
17: 45,817,865 (GRCm39) |
P29L |
probably benign |
Het |
| Acsm1 |
A |
G |
7: 119,261,484 (GRCm39) |
N567S |
probably benign |
Het |
| Ahi1 |
T |
G |
10: 20,852,948 (GRCm39) |
N505K |
probably damaging |
Het |
| Ank2 |
T |
A |
3: 126,825,874 (GRCm39) |
D356V |
probably damaging |
Het |
| Bhlhe40 |
TG |
TGG |
6: 108,641,818 (GRCm39) |
254 |
probably null |
Het |
| Bpifb6 |
C |
A |
2: 153,746,457 (GRCm39) |
T117K |
possibly damaging |
Het |
| C2cd6 |
T |
C |
1: 59,097,835 (GRCm39) |
E418G |
possibly damaging |
Het |
| Cbx1 |
A |
T |
11: 96,692,364 (GRCm39) |
K84* |
probably null |
Het |
| Cr2 |
A |
G |
1: 194,852,079 (GRCm39) |
L90P |
probably damaging |
Het |
| Dclk1 |
A |
G |
3: 55,387,827 (GRCm39) |
D91G |
probably damaging |
Het |
| Dock1 |
C |
A |
7: 134,747,215 (GRCm39) |
Q1509K |
probably benign |
Het |
| Fzd1 |
T |
G |
5: 4,806,089 (GRCm39) |
T498P |
probably damaging |
Het |
| Galnt12 |
A |
G |
4: 47,122,534 (GRCm39) |
N271S |
probably benign |
Het |
| Gm12888 |
A |
G |
4: 121,176,654 (GRCm39) |
I49T |
possibly damaging |
Het |
| Gria4 |
A |
T |
9: 4,427,077 (GRCm39) |
W788R |
probably damaging |
Het |
| Ilf3 |
C |
T |
9: 21,307,540 (GRCm39) |
A379V |
probably damaging |
Het |
| Islr2 |
A |
G |
9: 58,107,263 (GRCm39) |
V43A |
probably benign |
Het |
| Jag1 |
T |
A |
2: 136,929,563 (GRCm39) |
N782I |
probably damaging |
Het |
| Klhl8 |
T |
A |
5: 104,010,981 (GRCm39) |
I539F |
possibly damaging |
Het |
| Lama5 |
A |
T |
2: 179,839,257 (GRCm39) |
C750* |
probably null |
Het |
| Lrrc37a |
T |
A |
11: 103,388,361 (GRCm39) |
T2355S |
unknown |
Het |
| Lrrc8a |
A |
G |
2: 30,147,103 (GRCm39) |
H639R |
possibly damaging |
Het |
| Map1a |
A |
T |
2: 121,131,224 (GRCm39) |
D442V |
probably damaging |
Het |
| Mier3 |
T |
C |
13: 111,846,343 (GRCm39) |
|
probably null |
Het |
| Msantd1 |
C |
A |
5: 35,080,665 (GRCm39) |
|
probably null |
Het |
| Ncbp2 |
CTCGTCTGG |
C |
16: 31,775,159 (GRCm39) |
|
probably null |
Het |
| Ncbp2 |
CGTCTGGATG |
CG |
16: 31,775,161 (GRCm39) |
|
probably null |
Het |
| Ndst4 |
T |
C |
3: 125,232,150 (GRCm39) |
S240P |
probably benign |
Het |
| Nek9 |
T |
C |
12: 85,385,946 (GRCm39) |
D17G |
probably damaging |
Het |
| Nkx6-1 |
C |
T |
5: 101,811,677 (GRCm39) |
A142T |
unknown |
Het |
| Nt5dc1 |
T |
C |
10: 34,200,404 (GRCm39) |
H205R |
probably benign |
Het |
| Or5b94 |
T |
C |
19: 12,652,184 (GRCm39) |
I205T |
probably benign |
Het |
| Or9g3 |
T |
A |
2: 85,590,651 (GRCm39) |
Q23L |
possibly damaging |
Het |
| Pafah1b1 |
A |
G |
11: 74,573,098 (GRCm39) |
M322T |
probably benign |
Het |
| Parp2 |
A |
G |
14: 51,056,934 (GRCm39) |
N353D |
probably benign |
Het |
| Pdcd6ip |
T |
C |
9: 113,503,412 (GRCm39) |
N452S |
possibly damaging |
Het |
| Pkd1l2 |
A |
G |
8: 117,762,586 (GRCm39) |
V1397A |
probably damaging |
Het |
| Prkdc |
T |
A |
16: 15,535,665 (GRCm39) |
L1675Q |
probably damaging |
Het |
| Ptprt |
T |
C |
2: 161,395,703 (GRCm39) |
I1157V |
probably damaging |
Het |
| Rsf1 |
CGGCGGCGG |
CGGCGGCGGGGGCGGCGG |
7: 97,229,133 (GRCm39) |
|
probably benign |
Het |
| Sele |
G |
T |
1: 163,878,312 (GRCm39) |
C217F |
probably damaging |
Het |
| Spats1 |
T |
A |
17: 45,768,191 (GRCm39) |
H125L |
probably damaging |
Het |
| Stard3 |
T |
C |
11: 98,269,595 (GRCm39) |
V330A |
probably benign |
Het |
| Synj2 |
T |
A |
17: 6,069,846 (GRCm39) |
|
probably benign |
Het |
| Thoc1 |
T |
A |
18: 9,977,963 (GRCm39) |
F301L |
probably damaging |
Het |
| Thumpd3 |
G |
A |
6: 113,032,924 (GRCm39) |
E221K |
probably damaging |
Het |
| Trim61 |
T |
C |
8: 65,466,377 (GRCm39) |
T295A |
possibly damaging |
Het |
| Trp53bp1 |
T |
C |
2: 121,101,093 (GRCm39) |
Q35R |
probably damaging |
Het |
| Tsnaxip1 |
C |
T |
8: 106,570,615 (GRCm39) |
T578I |
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 |
|
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 |
|
|
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'- AAACAACCTGTGCTCCTGAGG -3'
(R):5'- CCGGAGCTTTCTGTAGTGAG -3'
Sequencing Primer
(F):5'- TCACCCAGGGAAGGCTGAG -3'
(R):5'- AGTGCTTCAGGGCTCTAGACAC -3'
|
| Posted On |
2018-05-04 |
Incidental Mutation