Incidental Mutation 'IGL03328:Ncapg2'
ID |
416727 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Ncapg2
|
Ensembl Gene |
ENSMUSG00000042029 |
Gene Name |
non-SMC condensin II complex, subunit G2 |
Synonyms |
5830426I05Rik, Mtb, mCAP-G2, Luzp5 |
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
IGL03328
|
Quality Score |
|
Status
|
|
Chromosome |
12 |
Chromosomal Location |
116368969-116427152 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 116403677 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Glutamic Acid to Glycine
at position 863
(E863G)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000081889
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000084828]
|
AlphaFold |
Q6DFV1 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000084828
AA Change: E863G
PolyPhen 2
Score 0.904 (Sensitivity: 0.82; Specificity: 0.94)
|
SMART Domains |
Protein: ENSMUSP00000081889 Gene: ENSMUSG00000042029 AA Change: E863G
Domain | Start | End | E-Value | Type |
low complexity region
|
14 |
25 |
N/A |
INTRINSIC |
Pfam:Condensin2nSMC
|
212 |
361 |
7.2e-62 |
PFAM |
|
Coding Region Coverage |
|
Validation Efficiency |
|
MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a protein that belongs to the Condensin2nSMC family of proteins. The encoded protein is a regulatory subunit of the condensin II complex which, along with the condensin I complex, plays a role in chromosome assembly and segregation during mitosis. A similar protein in mouse is required for early development of the embryo. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Aug 2013] PHENOTYPE: Homozygous null embryos exhibit impaired inner cell mass expansion and die shortly after implantation and prior to gastrulation and blood cell development. [provided by MGI curators]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 67 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Acaca |
A |
T |
11: 84,211,355 (GRCm39) |
M1556L |
probably benign |
Het |
Aicda |
T |
G |
6: 122,539,396 (GRCm39) |
D187E |
probably benign |
Het |
Arfgap3 |
A |
C |
15: 83,227,282 (GRCm39) |
F43L |
probably damaging |
Het |
AW551984 |
T |
C |
9: 39,508,412 (GRCm39) |
E368G |
probably damaging |
Het |
Bbs4 |
T |
C |
9: 59,251,401 (GRCm39) |
E33G |
probably damaging |
Het |
Bcas1 |
T |
A |
2: 170,208,316 (GRCm39) |
K437* |
probably null |
Het |
Brwd1 |
A |
T |
16: 95,803,925 (GRCm39) |
W2082R |
probably damaging |
Het |
Card6 |
A |
T |
15: 5,134,927 (GRCm39) |
|
probably benign |
Het |
Cd200r4 |
A |
G |
16: 44,653,882 (GRCm39) |
I226M |
possibly damaging |
Het |
Cep57l1 |
T |
C |
10: 41,619,148 (GRCm39) |
E73G |
probably damaging |
Het |
Chaf1a |
T |
G |
17: 56,370,374 (GRCm39) |
F613C |
probably damaging |
Het |
Clybl |
G |
T |
14: 122,639,406 (GRCm39) |
K323N |
probably damaging |
Het |
Coa7 |
A |
G |
4: 108,195,479 (GRCm39) |
D136G |
probably damaging |
Het |
Col5a2 |
C |
A |
1: 45,415,306 (GRCm39) |
V1478L |
possibly damaging |
Het |
Ctnnd2 |
T |
C |
15: 30,921,993 (GRCm39) |
|
probably benign |
Het |
Cyp4f17 |
T |
G |
17: 32,739,600 (GRCm39) |
M174R |
probably damaging |
Het |
Dnah10 |
A |
T |
5: 124,831,354 (GRCm39) |
D794V |
probably benign |
Het |
Eapp |
A |
G |
12: 54,738,878 (GRCm39) |
S87P |
probably benign |
Het |
Efnb3 |
A |
G |
11: 69,448,031 (GRCm39) |
I137T |
probably damaging |
Het |
Eif4e |
T |
A |
3: 138,259,488 (GRCm39) |
|
probably benign |
Het |
Fam83b |
T |
A |
9: 76,400,324 (GRCm39) |
I260L |
probably benign |
Het |
Fras1 |
A |
G |
5: 96,929,619 (GRCm39) |
T4008A |
probably damaging |
Het |
Fut8 |
A |
T |
12: 77,412,003 (GRCm39) |
R118W |
probably damaging |
Het |
Glt1d1 |
A |
C |
5: 127,734,183 (GRCm39) |
D119A |
probably benign |
Het |
Gm3727 |
T |
A |
14: 7,261,685 (GRCm38) |
*206C |
probably null |
Het |
Gmip |
G |
A |
8: 70,264,261 (GRCm39) |
V174M |
possibly damaging |
Het |
Gtf2ird1 |
A |
G |
5: 134,417,983 (GRCm39) |
|
probably null |
Het |
Haao |
C |
T |
17: 84,154,078 (GRCm39) |
C23Y |
probably damaging |
Het |
Hip1 |
A |
T |
5: 135,453,728 (GRCm39) |
V400E |
probably damaging |
Het |
Keg1 |
A |
G |
19: 12,696,461 (GRCm39) |
N215S |
probably damaging |
Het |
Lss |
T |
G |
10: 76,376,785 (GRCm39) |
I334S |
probably damaging |
Het |
Lyn |
A |
C |
4: 3,745,327 (GRCm39) |
E77D |
probably benign |
Het |
Myo3a |
A |
G |
2: 22,468,210 (GRCm39) |
E1426G |
probably benign |
Het |
Ncl |
T |
C |
1: 86,280,319 (GRCm39) |
Y496C |
probably damaging |
Het |
Nefm |
A |
T |
14: 68,358,739 (GRCm39) |
S432T |
probably benign |
Het |
Nipsnap1 |
A |
G |
11: 4,834,096 (GRCm39) |
Y95C |
possibly damaging |
Het |
Npc1l1 |
C |
A |
11: 6,168,643 (GRCm39) |
E913* |
probably null |
Het |
Nup205 |
T |
C |
6: 35,209,349 (GRCm39) |
L1552P |
probably damaging |
Het |
Or2t46 |
A |
G |
11: 58,472,539 (GRCm39) |
N290D |
probably damaging |
Het |
Or4c112 |
G |
T |
2: 88,854,199 (GRCm39) |
Y49* |
probably null |
Het |
Or52h7 |
T |
A |
7: 104,213,677 (GRCm39) |
V83D |
probably damaging |
Het |
Or7c70 |
C |
T |
10: 78,683,201 (GRCm39) |
E183K |
probably benign |
Het |
Osm |
A |
C |
11: 4,188,426 (GRCm39) |
I18L |
unknown |
Het |
Otoa |
T |
A |
7: 120,710,217 (GRCm39) |
S254R |
probably damaging |
Het |
Parp1 |
T |
C |
1: 180,427,155 (GRCm39) |
|
probably benign |
Het |
Pcdh17 |
A |
G |
14: 84,770,551 (GRCm39) |
I1010V |
probably benign |
Het |
Peli2 |
A |
T |
14: 48,490,032 (GRCm39) |
|
probably null |
Het |
Pkd1l3 |
T |
G |
8: 110,388,738 (GRCm39) |
|
probably benign |
Het |
Pkhd1 |
A |
G |
1: 20,151,524 (GRCm39) |
|
probably benign |
Het |
Polg2 |
A |
C |
11: 106,659,163 (GRCm39) |
V450G |
probably benign |
Het |
Potegl |
A |
T |
2: 23,102,817 (GRCm39) |
Y185F |
possibly damaging |
Het |
Ptpn13 |
A |
T |
5: 103,664,214 (GRCm39) |
T401S |
probably benign |
Het |
Rgs22 |
C |
T |
15: 36,043,350 (GRCm39) |
|
probably null |
Het |
Rttn |
T |
G |
18: 89,061,152 (GRCm39) |
S1107A |
probably benign |
Het |
Scn5a |
G |
T |
9: 119,366,702 (GRCm39) |
N328K |
probably benign |
Het |
Sned1 |
G |
A |
1: 93,217,089 (GRCm39) |
A1325T |
probably benign |
Het |
St8sia4 |
T |
A |
1: 95,588,595 (GRCm39) |
E80V |
probably benign |
Het |
Stard7 |
T |
C |
2: 127,134,176 (GRCm39) |
|
probably benign |
Het |
Suco |
G |
T |
1: 161,647,990 (GRCm39) |
P1099T |
probably damaging |
Het |
Syn2 |
G |
T |
6: 115,251,221 (GRCm39) |
C459F |
probably damaging |
Het |
Tas2r117 |
A |
C |
6: 132,780,041 (GRCm39) |
I60L |
probably benign |
Het |
Tomm70a |
T |
C |
16: 56,965,150 (GRCm39) |
C445R |
probably damaging |
Het |
Tpsab1 |
T |
A |
17: 25,564,102 (GRCm39) |
D87V |
probably benign |
Het |
Trgc4 |
A |
G |
13: 19,536,416 (GRCm39) |
Y158C |
unknown |
Het |
Trpm6 |
A |
T |
19: 18,815,446 (GRCm39) |
E1177D |
possibly damaging |
Het |
Vmn2r71 |
A |
T |
7: 85,273,499 (GRCm39) |
D771V |
probably damaging |
Het |
Vmn2r93 |
A |
T |
17: 18,525,220 (GRCm39) |
T293S |
probably damaging |
Het |
|
Other mutations in Ncapg2 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01410:Ncapg2
|
APN |
12 |
116,388,270 (GRCm39) |
missense |
possibly damaging |
0.54 |
IGL01694:Ncapg2
|
APN |
12 |
116,370,850 (GRCm39) |
utr 5 prime |
probably benign |
|
IGL01724:Ncapg2
|
APN |
12 |
116,390,331 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01792:Ncapg2
|
APN |
12 |
116,389,438 (GRCm39) |
missense |
probably damaging |
0.99 |
IGL02098:Ncapg2
|
APN |
12 |
116,407,952 (GRCm39) |
missense |
possibly damaging |
0.59 |
IGL02136:Ncapg2
|
APN |
12 |
116,424,203 (GRCm39) |
missense |
probably benign |
|
IGL02409:Ncapg2
|
APN |
12 |
116,384,337 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02580:Ncapg2
|
APN |
12 |
116,384,309 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02653:Ncapg2
|
APN |
12 |
116,389,526 (GRCm39) |
critical splice donor site |
probably null |
|
IGL03073:Ncapg2
|
APN |
12 |
116,415,894 (GRCm39) |
missense |
probably benign |
0.01 |
IGL03114:Ncapg2
|
APN |
12 |
116,415,993 (GRCm39) |
splice site |
probably benign |
|
IGL03199:Ncapg2
|
APN |
12 |
116,382,856 (GRCm39) |
missense |
probably damaging |
1.00 |
P0033:Ncapg2
|
UTSW |
12 |
116,402,255 (GRCm39) |
missense |
probably benign |
0.03 |
R0008:Ncapg2
|
UTSW |
12 |
116,393,455 (GRCm39) |
missense |
probably damaging |
1.00 |
R0194:Ncapg2
|
UTSW |
12 |
116,384,303 (GRCm39) |
splice site |
probably null |
|
R0379:Ncapg2
|
UTSW |
12 |
116,406,695 (GRCm39) |
missense |
probably damaging |
1.00 |
R0568:Ncapg2
|
UTSW |
12 |
116,386,835 (GRCm39) |
missense |
probably damaging |
1.00 |
R0771:Ncapg2
|
UTSW |
12 |
116,376,779 (GRCm39) |
nonsense |
probably null |
|
R1016:Ncapg2
|
UTSW |
12 |
116,402,295 (GRCm39) |
missense |
probably damaging |
1.00 |
R1507:Ncapg2
|
UTSW |
12 |
116,424,186 (GRCm39) |
missense |
probably benign |
0.00 |
R1524:Ncapg2
|
UTSW |
12 |
116,398,198 (GRCm39) |
splice site |
probably benign |
|
R1596:Ncapg2
|
UTSW |
12 |
116,382,856 (GRCm39) |
missense |
probably damaging |
1.00 |
R1635:Ncapg2
|
UTSW |
12 |
116,398,305 (GRCm39) |
frame shift |
probably null |
|
R1752:Ncapg2
|
UTSW |
12 |
116,390,338 (GRCm39) |
missense |
probably damaging |
1.00 |
R2164:Ncapg2
|
UTSW |
12 |
116,414,095 (GRCm39) |
splice site |
probably null |
|
R2266:Ncapg2
|
UTSW |
12 |
116,393,296 (GRCm39) |
missense |
probably damaging |
1.00 |
R2366:Ncapg2
|
UTSW |
12 |
116,384,349 (GRCm39) |
nonsense |
probably null |
|
R2924:Ncapg2
|
UTSW |
12 |
116,402,349 (GRCm39) |
missense |
probably benign |
0.03 |
R2925:Ncapg2
|
UTSW |
12 |
116,402,349 (GRCm39) |
missense |
probably benign |
0.03 |
R3828:Ncapg2
|
UTSW |
12 |
116,370,938 (GRCm39) |
splice site |
probably benign |
|
R3829:Ncapg2
|
UTSW |
12 |
116,370,938 (GRCm39) |
splice site |
probably benign |
|
R4384:Ncapg2
|
UTSW |
12 |
116,403,497 (GRCm39) |
critical splice donor site |
probably null |
|
R4651:Ncapg2
|
UTSW |
12 |
116,389,407 (GRCm39) |
missense |
probably damaging |
1.00 |
R4701:Ncapg2
|
UTSW |
12 |
116,404,238 (GRCm39) |
missense |
probably benign |
|
R4821:Ncapg2
|
UTSW |
12 |
116,379,077 (GRCm39) |
missense |
probably damaging |
0.99 |
R4845:Ncapg2
|
UTSW |
12 |
116,404,208 (GRCm39) |
missense |
probably damaging |
0.96 |
R5135:Ncapg2
|
UTSW |
12 |
116,391,406 (GRCm39) |
missense |
possibly damaging |
0.64 |
R5294:Ncapg2
|
UTSW |
12 |
116,391,414 (GRCm39) |
missense |
possibly damaging |
0.54 |
R5334:Ncapg2
|
UTSW |
12 |
116,390,257 (GRCm39) |
missense |
probably damaging |
1.00 |
R5588:Ncapg2
|
UTSW |
12 |
116,376,697 (GRCm39) |
missense |
possibly damaging |
0.95 |
R5888:Ncapg2
|
UTSW |
12 |
116,389,420 (GRCm39) |
missense |
possibly damaging |
0.84 |
R5938:Ncapg2
|
UTSW |
12 |
116,393,277 (GRCm39) |
missense |
probably damaging |
1.00 |
R5978:Ncapg2
|
UTSW |
12 |
116,388,291 (GRCm39) |
missense |
possibly damaging |
0.68 |
R6016:Ncapg2
|
UTSW |
12 |
116,390,227 (GRCm39) |
missense |
probably damaging |
1.00 |
R6026:Ncapg2
|
UTSW |
12 |
116,406,641 (GRCm39) |
missense |
possibly damaging |
0.73 |
R6155:Ncapg2
|
UTSW |
12 |
116,401,631 (GRCm39) |
missense |
possibly damaging |
0.83 |
R6509:Ncapg2
|
UTSW |
12 |
116,391,376 (GRCm39) |
missense |
probably damaging |
1.00 |
R6675:Ncapg2
|
UTSW |
12 |
116,398,281 (GRCm39) |
missense |
possibly damaging |
0.71 |
R6912:Ncapg2
|
UTSW |
12 |
116,390,202 (GRCm39) |
missense |
probably benign |
|
R7069:Ncapg2
|
UTSW |
12 |
116,388,337 (GRCm39) |
splice site |
probably null |
|
R7339:Ncapg2
|
UTSW |
12 |
116,378,454 (GRCm39) |
missense |
probably damaging |
0.96 |
R7440:Ncapg2
|
UTSW |
12 |
116,414,033 (GRCm39) |
missense |
possibly damaging |
0.89 |
R7445:Ncapg2
|
UTSW |
12 |
116,382,888 (GRCm39) |
missense |
possibly damaging |
0.50 |
R7704:Ncapg2
|
UTSW |
12 |
116,382,897 (GRCm39) |
missense |
probably damaging |
1.00 |
R8061:Ncapg2
|
UTSW |
12 |
116,390,197 (GRCm39) |
missense |
probably benign |
|
R8132:Ncapg2
|
UTSW |
12 |
116,407,967 (GRCm39) |
missense |
possibly damaging |
0.93 |
R8166:Ncapg2
|
UTSW |
12 |
116,376,036 (GRCm39) |
missense |
probably benign |
0.00 |
R8351:Ncapg2
|
UTSW |
12 |
116,403,647 (GRCm39) |
missense |
possibly damaging |
0.80 |
R8526:Ncapg2
|
UTSW |
12 |
116,403,679 (GRCm39) |
missense |
probably benign |
0.00 |
R8692:Ncapg2
|
UTSW |
12 |
116,414,049 (GRCm39) |
missense |
probably damaging |
1.00 |
R8739:Ncapg2
|
UTSW |
12 |
116,379,098 (GRCm39) |
missense |
possibly damaging |
0.75 |
R8766:Ncapg2
|
UTSW |
12 |
116,390,356 (GRCm39) |
missense |
probably damaging |
1.00 |
R8929:Ncapg2
|
UTSW |
12 |
116,415,983 (GRCm39) |
missense |
probably damaging |
1.00 |
R9046:Ncapg2
|
UTSW |
12 |
116,376,145 (GRCm39) |
missense |
probably benign |
0.01 |
R9187:Ncapg2
|
UTSW |
12 |
116,402,287 (GRCm39) |
missense |
probably damaging |
1.00 |
R9344:Ncapg2
|
UTSW |
12 |
116,388,273 (GRCm39) |
missense |
probably damaging |
1.00 |
R9444:Ncapg2
|
UTSW |
12 |
116,370,863 (GRCm39) |
missense |
probably damaging |
1.00 |
R9580:Ncapg2
|
UTSW |
12 |
116,424,228 (GRCm39) |
missense |
probably damaging |
1.00 |
R9634:Ncapg2
|
UTSW |
12 |
116,379,077 (GRCm39) |
missense |
probably damaging |
0.99 |
R9749:Ncapg2
|
UTSW |
12 |
116,411,368 (GRCm39) |
nonsense |
probably null |
|
X0020:Ncapg2
|
UTSW |
12 |
116,388,327 (GRCm39) |
missense |
probably damaging |
1.00 |
Z1177:Ncapg2
|
UTSW |
12 |
116,402,225 (GRCm39) |
missense |
probably damaging |
0.99 |
|
Posted On |
2016-08-02 |