Incidental Mutation 'R9358:Ncapd2'
| ID |
708522 |
| 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 |
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.971)
|
| Stock # |
R9358 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
6 |
| Chromosomal Location |
125144970-125168664 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 125163106 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Methionine to Lysine
at position 134
(M134K)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000042260
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000043848]
[ENSMUST00000188762]
[ENSMUST00000189959]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000043848
AA Change: M134K
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
| SMART Domains |
Protein: ENSMUSP00000042260
Gene: ENSMUSG00000038252
AA Change: M134K
| 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: ENSMUST00000188762
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000189959
AA Change: M134K
PolyPhen 2
Score 0.012 (Sensitivity: 0.96; Specificity: 0.78)
|
| SMART Domains |
Protein: ENSMUSP00000139445
Gene: ENSMUSG00000038252
AA Change: M134K
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Cnd1_N
|
73 |
162 |
8.3e-6 |
PFAM |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.6%
- 20x: 98.6%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 73 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930432M17Rik |
A |
T |
3: 121,474,976 (GRCm39) |
K149* |
probably null |
Het |
| Ap3m2 |
G |
A |
8: 23,280,959 (GRCm39) |
S365F |
possibly damaging |
Het |
| Apob |
T |
A |
12: 8,060,833 (GRCm39) |
I3105K |
probably benign |
Het |
| Arfgef3 |
A |
G |
10: 18,492,628 (GRCm39) |
L1261P |
probably damaging |
Het |
| Armc8 |
A |
G |
9: 99,450,653 (GRCm39) |
|
probably null |
Het |
| Axin2 |
A |
G |
11: 108,814,873 (GRCm39) |
T254A |
probably benign |
Het |
| Cachd1 |
G |
A |
4: 100,833,622 (GRCm39) |
V800M |
probably damaging |
Het |
| Camta1 |
A |
G |
4: 151,222,881 (GRCm39) |
L892P |
probably damaging |
Het |
| Cfap58 |
C |
T |
19: 47,962,987 (GRCm39) |
R466* |
probably null |
Het |
| Cilp |
A |
G |
9: 65,183,269 (GRCm39) |
Q391R |
probably benign |
Het |
| Cracd |
A |
T |
5: 77,002,836 (GRCm39) |
I137F |
probably damaging |
Het |
| Ctcfl |
T |
A |
2: 172,960,581 (GRCm39) |
M1L |
possibly damaging |
Het |
| Dnah14 |
G |
A |
1: 181,536,598 (GRCm39) |
A2414T |
probably benign |
Het |
| Dnah2 |
A |
G |
11: 69,406,592 (GRCm39) |
L550P |
probably damaging |
Het |
| Erich6b |
T |
A |
14: 75,902,668 (GRCm39) |
S162T |
probably benign |
Het |
| Fbxw7 |
C |
A |
3: 84,883,561 (GRCm39) |
H578Q |
|
Het |
| Fer |
T |
C |
17: 64,280,076 (GRCm39) |
L418P |
possibly damaging |
Het |
| Fndc3b |
A |
C |
3: 27,505,556 (GRCm39) |
L904R |
possibly damaging |
Het |
| Gabrg1 |
A |
T |
5: 70,935,422 (GRCm39) |
I249N |
possibly damaging |
Het |
| Gbe1 |
T |
A |
16: 70,238,127 (GRCm39) |
D304E |
probably benign |
Het |
| Gm10549 |
C |
T |
18: 33,597,375 (GRCm39) |
P54S |
unknown |
Het |
| Gpatch4 |
G |
T |
3: 87,962,452 (GRCm39) |
E222* |
probably null |
Het |
| Heatr1 |
A |
T |
13: 12,433,087 (GRCm39) |
T1146S |
probably benign |
Het |
| Hrc |
A |
C |
7: 44,985,984 (GRCm39) |
E378D |
probably benign |
Het |
| Hspg2 |
G |
T |
4: 137,244,909 (GRCm39) |
R878L |
probably damaging |
Het |
| Igkv1-122 |
A |
G |
6: 67,993,756 (GRCm39) |
M11V |
probably benign |
Het |
| Itih3 |
T |
A |
14: 30,643,885 (GRCm39) |
K75* |
probably null |
Het |
| Jag1 |
A |
G |
2: 136,924,948 (GRCm39) |
V1218A |
probably benign |
Het |
| Kif28 |
C |
T |
1: 179,563,695 (GRCm39) |
D94N |
probably benign |
Het |
| Lama2 |
G |
A |
10: 27,064,378 (GRCm39) |
T1201M |
possibly damaging |
Het |
| Lama2 |
A |
G |
10: 27,492,761 (GRCm39) |
L11P |
unknown |
Het |
| Lrfn2 |
T |
C |
17: 49,403,530 (GRCm39) |
V551A |
probably damaging |
Het |
| Lrrc8d |
A |
G |
5: 105,960,358 (GRCm39) |
N256S |
probably benign |
Het |
| Mindy1 |
C |
T |
3: 95,202,590 (GRCm39) |
L394F |
probably benign |
Het |
| Mon2 |
A |
G |
10: 122,868,452 (GRCm39) |
S534P |
probably benign |
Het |
| Mrps5 |
T |
A |
2: 127,437,734 (GRCm39) |
I187N |
probably benign |
Het |
| Mto1 |
A |
G |
9: 78,364,840 (GRCm39) |
M360V |
probably benign |
Het |
| Muc16 |
T |
G |
9: 18,553,520 (GRCm39) |
I4258L |
probably benign |
Het |
| Myo10 |
A |
G |
15: 25,781,520 (GRCm39) |
D1005G |
possibly damaging |
Het |
| Myo18b |
T |
A |
5: 112,943,269 (GRCm39) |
R1645S |
possibly damaging |
Het |
| Naip2 |
A |
T |
13: 100,298,080 (GRCm39) |
V652D |
probably damaging |
Het |
| Naip5 |
T |
A |
13: 100,356,338 (GRCm39) |
E1092D |
probably benign |
Het |
| Nup107 |
A |
G |
10: 117,586,868 (GRCm39) |
F893S |
probably damaging |
Het |
| Or10j3 |
A |
T |
1: 173,031,741 (GRCm39) |
R273W |
probably damaging |
Het |
| Or11h23 |
A |
G |
14: 50,947,802 (GRCm39) |
E5G |
probably benign |
Het |
| Or1e35 |
A |
T |
11: 73,797,451 (GRCm39) |
I289N |
probably damaging |
Het |
| Or4f14b |
A |
G |
2: 111,775,429 (GRCm39) |
V124A |
probably benign |
Het |
| Or5p64 |
C |
T |
7: 107,854,799 (GRCm39) |
C182Y |
probably damaging |
Het |
| Pcgf1 |
G |
T |
6: 83,056,433 (GRCm39) |
R124L |
probably benign |
Het |
| Pdcd10 |
A |
T |
3: 75,448,533 (GRCm39) |
N10K |
probably damaging |
Het |
| Pdx1 |
C |
T |
5: 147,207,064 (GRCm39) |
Q6* |
probably null |
Het |
| Plcl1 |
T |
C |
1: 55,735,810 (GRCm39) |
S384P |
probably damaging |
Het |
| Serpina1b |
T |
A |
12: 103,694,653 (GRCm39) |
T364S |
possibly damaging |
Het |
| Slc5a11 |
C |
T |
7: 122,857,775 (GRCm39) |
T288I |
probably damaging |
Het |
| Slc6a1 |
A |
T |
6: 114,291,271 (GRCm39) |
S515C |
probably damaging |
Het |
| Snca |
A |
T |
6: 60,710,121 (GRCm39) |
D119E |
probably benign |
Het |
| Sorcs2 |
T |
C |
5: 36,200,814 (GRCm39) |
D578G |
probably damaging |
Het |
| Sulf1 |
T |
A |
1: 12,890,729 (GRCm39) |
L389Q |
probably damaging |
Het |
| Thoc2l |
T |
C |
5: 104,667,826 (GRCm39) |
F783L |
possibly damaging |
Het |
| Tln1 |
A |
C |
4: 43,532,084 (GRCm39) |
I2501S |
possibly damaging |
Het |
| Tmem191 |
A |
G |
16: 17,094,257 (GRCm39) |
E27G |
probably damaging |
Het |
| Tmem200a |
G |
T |
10: 25,869,677 (GRCm39) |
N197K |
probably benign |
Het |
| Tmem207 |
A |
T |
16: 26,345,434 (GRCm39) |
S11T |
probably benign |
Het |
| Ttn |
T |
C |
2: 76,564,953 (GRCm39) |
T28425A |
probably damaging |
Het |
| Ush2a |
C |
T |
1: 188,607,147 (GRCm39) |
T4014M |
probably benign |
Het |
| Vac14 |
G |
A |
8: 111,439,379 (GRCm39) |
|
probably null |
Het |
| Vmn2r32 |
A |
T |
7: 7,477,197 (GRCm39) |
I398K |
probably damaging |
Het |
| Vmn2r77 |
A |
T |
7: 86,452,236 (GRCm39) |
H472L |
probably benign |
Het |
| Vps45 |
C |
T |
3: 95,940,976 (GRCm39) |
|
probably null |
Het |
| Wdr26 |
T |
C |
1: 181,019,423 (GRCm39) |
H334R |
probably damaging |
Het |
| Zfp268 |
A |
T |
4: 145,349,613 (GRCm39) |
Y350F |
possibly damaging |
Het |
| Zmynd10 |
A |
G |
9: 107,426,249 (GRCm39) |
D132G |
possibly damaging |
Het |
| Zpbp2 |
A |
G |
11: 98,444,774 (GRCm39) |
T123A |
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 |
|
|
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 |
|
|
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'- AGAGCTGGACCTTAAGTGCTC -3'
(R):5'- GGTAATCTGATGGCTATAAGCGC -3'
Sequencing Primer
(F):5'- GGACCTTAAGTGCTCCCTCCTAAAC -3'
(R):5'- ATCTGATGGCTATAAGCGCTAAGTG -3'
|
| Posted On |
2022-04-18 |
Incidental Mutation