Incidental Mutation 'R6198:Ncapd2'
| ID |
503038 |
| 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 |
044338-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.971)
|
| Stock # |
R6198 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
6 |
| Chromosomal Location |
125144970-125168664 bp(-) (GRCm39) |
| Type of Mutation |
nonsense |
| DNA Base Change (assembly) |
C to A
at 125156286 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Stop codon
at position 500
(E500*)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000042260
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000043848]
[ENSMUST00000188762]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably null
Transcript: ENSMUST00000043848
AA Change: E500*
|
| SMART Domains |
Protein: ENSMUSP00000042260
Gene: ENSMUSG00000038252
AA Change: E500*
| 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: ENSMUST00000186561
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000188306
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000188762
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000189706
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000191080
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.7%
- 20x: 99.0%
|
| Validation Efficiency |
99% (68/69) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 68 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700006A11Rik |
A |
T |
3: 124,210,499 (GRCm39) |
|
probably null |
Het |
| 2610318N02Rik |
A |
G |
16: 16,936,233 (GRCm39) |
S164P |
probably damaging |
Het |
| Acsbg3 |
A |
G |
17: 57,189,679 (GRCm39) |
S265G |
probably damaging |
Het |
| Acyp2 |
C |
T |
11: 30,456,354 (GRCm39) |
E98K |
possibly damaging |
Het |
| Adam19 |
A |
C |
11: 46,012,329 (GRCm39) |
N275T |
probably damaging |
Het |
| Adgrg7 |
T |
A |
16: 56,597,556 (GRCm39) |
T84S |
possibly damaging |
Het |
| Asl |
C |
T |
5: 130,047,757 (GRCm39) |
V70I |
probably benign |
Het |
| Atp2c1 |
A |
G |
9: 105,398,271 (GRCm39) |
S26P |
probably benign |
Het |
| Bcas3 |
A |
T |
11: 85,400,261 (GRCm39) |
D410V |
probably damaging |
Het |
| Cc2d1b |
C |
T |
4: 108,490,422 (GRCm39) |
R825W |
probably damaging |
Het |
| Ccdc15 |
A |
C |
9: 37,225,581 (GRCm39) |
|
probably null |
Het |
| Cfh |
A |
G |
1: 140,033,178 (GRCm39) |
S789P |
probably damaging |
Het |
| Cltc |
T |
C |
11: 86,611,188 (GRCm39) |
N561S |
probably benign |
Het |
| Cnst |
A |
G |
1: 179,420,430 (GRCm39) |
Q187R |
probably damaging |
Het |
| Csmd3 |
T |
C |
15: 48,177,273 (GRCm39) |
T422A |
probably benign |
Het |
| Cyp2c55 |
A |
T |
19: 38,995,565 (GRCm39) |
R26* |
probably null |
Het |
| Dgkb |
A |
T |
12: 38,223,822 (GRCm39) |
M414L |
probably benign |
Het |
| Dgkd |
A |
G |
1: 87,851,930 (GRCm39) |
D444G |
probably damaging |
Het |
| Dipk1b |
A |
G |
2: 26,525,710 (GRCm39) |
K215E |
probably damaging |
Het |
| Dnmt3c |
T |
C |
2: 153,561,929 (GRCm39) |
V544A |
noncoding transcript |
Het |
| Dus3l |
A |
T |
17: 57,074,858 (GRCm39) |
T327S |
possibly damaging |
Het |
| Elf2 |
A |
T |
3: 51,184,670 (GRCm39) |
L5Q |
probably damaging |
Het |
| Fxyd6 |
A |
G |
9: 45,301,968 (GRCm39) |
Y30C |
probably damaging |
Het |
| Gcc2 |
A |
T |
10: 58,128,412 (GRCm39) |
T1375S |
probably benign |
Het |
| Git2 |
A |
T |
5: 114,883,556 (GRCm39) |
Y393* |
probably null |
Het |
| Gm14403 |
AAACCCTA |
AA |
2: 177,201,448 (GRCm39) |
|
probably benign |
Het |
| Golgb1 |
T |
C |
16: 36,713,757 (GRCm39) |
L246P |
probably damaging |
Het |
| Grp |
G |
T |
18: 66,013,057 (GRCm39) |
Q74H |
possibly damaging |
Het |
| Ifi203 |
A |
T |
1: 173,751,648 (GRCm39) |
M391K |
probably damaging |
Het |
| Itih2 |
A |
G |
2: 10,103,352 (GRCm39) |
Y712H |
probably benign |
Het |
| Kdm5a |
T |
A |
6: 120,415,958 (GRCm39) |
V1626E |
probably benign |
Het |
| Klhl40 |
A |
G |
9: 121,607,833 (GRCm39) |
Y331C |
probably damaging |
Het |
| Kprp |
T |
A |
3: 92,731,994 (GRCm39) |
Y352F |
probably damaging |
Het |
| Lama2 |
G |
T |
10: 27,064,018 (GRCm39) |
H1286Q |
probably damaging |
Het |
| Lgi4 |
T |
A |
7: 30,768,547 (GRCm39) |
|
probably null |
Het |
| Lrrc47 |
A |
T |
4: 154,100,129 (GRCm39) |
N235I |
probably damaging |
Het |
| Lrrc74b |
T |
A |
16: 17,366,650 (GRCm39) |
I308F |
probably damaging |
Het |
| Map7d1 |
T |
A |
4: 126,135,636 (GRCm39) |
K135M |
probably damaging |
Het |
| Marchf5 |
A |
G |
19: 37,188,140 (GRCm39) |
R36G |
probably damaging |
Het |
| Mtx3 |
C |
A |
13: 92,989,359 (GRCm39) |
P299Q |
probably benign |
Het |
| Muc21 |
T |
A |
17: 35,931,808 (GRCm39) |
|
probably benign |
Het |
| Nckap5l |
T |
C |
15: 99,323,869 (GRCm39) |
K878R |
probably damaging |
Het |
| Nphs1 |
T |
C |
7: 30,167,340 (GRCm39) |
I756T |
probably damaging |
Het |
| Olfm4 |
T |
G |
14: 80,237,813 (GRCm39) |
S17A |
probably benign |
Het |
| Or1j15 |
A |
G |
2: 36,458,963 (GRCm39) |
M118V |
probably damaging |
Het |
| Or4b1 |
A |
T |
2: 89,979,782 (GRCm39) |
D189E |
probably damaging |
Het |
| Pak1ip1 |
G |
T |
13: 41,154,886 (GRCm39) |
Q27H |
probably benign |
Het |
| Piezo2 |
A |
T |
18: 63,290,281 (GRCm39) |
C159* |
probably null |
Het |
| Pkn2 |
G |
T |
3: 142,516,165 (GRCm39) |
T538K |
probably benign |
Het |
| Ppp3cc |
A |
T |
14: 70,485,060 (GRCm39) |
M198K |
probably benign |
Het |
| Rrm1 |
T |
G |
7: 102,095,936 (GRCm39) |
|
probably null |
Het |
| Setd3 |
T |
C |
12: 108,131,427 (GRCm39) |
K7E |
possibly damaging |
Het |
| Shc1 |
A |
G |
3: 89,329,414 (GRCm39) |
K86R |
probably benign |
Het |
| Slc16a7 |
T |
C |
10: 125,064,084 (GRCm39) |
T418A |
probably benign |
Het |
| Spocd1 |
C |
T |
4: 129,849,208 (GRCm39) |
P676S |
probably damaging |
Het |
| Spp1 |
A |
G |
5: 104,587,374 (GRCm39) |
|
probably null |
Het |
| Syne1 |
A |
G |
10: 5,252,269 (GRCm39) |
Y2462H |
probably damaging |
Het |
| Tiam2 |
T |
C |
17: 3,464,396 (GRCm39) |
S42P |
probably benign |
Het |
| Tmem63b |
C |
T |
17: 45,972,442 (GRCm39) |
V722I |
probably benign |
Het |
| Ubqln1 |
A |
G |
13: 58,344,404 (GRCm39) |
S130P |
probably benign |
Het |
| Usp34 |
G |
T |
11: 23,434,127 (GRCm39) |
L3215F |
probably damaging |
Het |
| Uvssa |
A |
G |
5: 33,566,854 (GRCm39) |
Y517C |
probably damaging |
Het |
| Vps13d |
A |
T |
4: 144,875,560 (GRCm39) |
F1649Y |
probably benign |
Het |
| Zfp236 |
A |
G |
18: 82,675,278 (GRCm39) |
S405P |
probably damaging |
Het |
| Zfp9 |
T |
C |
6: 118,454,282 (GRCm39) |
M1V |
probably null |
Het |
| Zfp946 |
A |
T |
17: 22,673,896 (GRCm39) |
S217C |
probably damaging |
Het |
| Zfp970 |
T |
A |
2: 177,167,253 (GRCm39) |
C276S |
probably damaging |
Het |
| Zswim5 |
T |
A |
4: 116,735,204 (GRCm39) |
F183Y |
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 |
|
|
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'- CGTGTTCTGTCACATACTACACAC -3'
(R):5'- TTACAAGAAATGCGAGCCCAG -3'
Sequencing Primer
(F):5'- ACTGTCAGAGTGCCCTGCTC -3'
(R):5'- TTCAGCTGCAGCACTAGA -3'
|
| Posted On |
2018-02-27 |
Incidental Mutation