Incidental Mutation 'IGL01410:Ncapg2'
| ID |
79958 |
| 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 # |
IGL01410
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
12 |
| Chromosomal Location |
116368969-116427152 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 116388270 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Aspartic acid
at position 318
(V318D)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000081889
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000084828]
|
| AlphaFold |
Q6DFV1 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000084828
AA Change: V318D
PolyPhen 2
Score 0.543 (Sensitivity: 0.88; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000081889
Gene: ENSMUSG00000042029
AA Change: V318D
| 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: 60 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aox1 |
T |
A |
1: 58,145,184 (GRCm39) |
|
probably null |
Het |
| Aspm |
C |
T |
1: 139,410,182 (GRCm39) |
T1359I |
probably benign |
Het |
| Atp13a2 |
A |
G |
4: 140,719,509 (GRCm39) |
D26G |
probably benign |
Het |
| Atrnl1 |
G |
A |
19: 58,119,536 (GRCm39) |
A1343T |
probably damaging |
Het |
| Ccsap |
A |
C |
8: 124,585,969 (GRCm39) |
S61A |
probably damaging |
Het |
| Cdh1 |
A |
T |
8: 107,384,485 (GRCm39) |
M318L |
probably benign |
Het |
| Cfap69 |
G |
A |
5: 5,696,979 (GRCm39) |
P106S |
probably damaging |
Het |
| Cfp |
G |
A |
X: 20,795,963 (GRCm39) |
T88I |
probably damaging |
Het |
| Chst1 |
A |
T |
2: 92,444,475 (GRCm39) |
I316F |
probably damaging |
Het |
| Col7a1 |
A |
T |
9: 108,793,686 (GRCm39) |
D1382V |
unknown |
Het |
| Cr2 |
T |
A |
1: 194,845,542 (GRCm39) |
M514L |
possibly damaging |
Het |
| Cubn |
G |
A |
2: 13,470,719 (GRCm39) |
H558Y |
probably benign |
Het |
| Cul9 |
A |
T |
17: 46,839,572 (GRCm39) |
M802K |
probably damaging |
Het |
| Dennd2d |
A |
T |
3: 106,398,542 (GRCm39) |
I169L |
probably damaging |
Het |
| Dnah11 |
T |
A |
12: 118,010,991 (GRCm39) |
K162* |
probably null |
Het |
| Dnah3 |
T |
A |
7: 119,566,943 (GRCm39) |
T2428S |
possibly damaging |
Het |
| Dock11 |
T |
A |
X: 35,301,296 (GRCm39) |
H1284Q |
probably damaging |
Het |
| Flrt2 |
T |
A |
12: 95,745,966 (GRCm39) |
D101E |
probably damaging |
Het |
| Gabrr2 |
G |
A |
4: 33,085,626 (GRCm39) |
V349M |
probably damaging |
Het |
| Gli2 |
C |
A |
1: 118,764,621 (GRCm39) |
V1177L |
probably benign |
Het |
| Gm16506 |
A |
G |
14: 43,961,630 (GRCm39) |
Y206H |
probably benign |
Het |
| Gm5612 |
C |
T |
9: 18,338,869 (GRCm39) |
|
probably benign |
Het |
| Gvin3 |
C |
T |
7: 106,202,258 (GRCm39) |
|
noncoding transcript |
Het |
| Heg1 |
C |
T |
16: 33,545,936 (GRCm39) |
T460I |
possibly damaging |
Het |
| Lgals9 |
T |
G |
11: 78,863,977 (GRCm39) |
D56A |
probably damaging |
Het |
| Lpgat1 |
A |
T |
1: 191,508,544 (GRCm39) |
|
probably null |
Het |
| Megf6 |
T |
A |
4: 154,337,020 (GRCm39) |
|
probably null |
Het |
| Megf8 |
G |
A |
7: 25,059,296 (GRCm39) |
M2265I |
probably benign |
Het |
| Memo1 |
G |
A |
17: 74,548,976 (GRCm39) |
R121* |
probably null |
Het |
| Morc1 |
T |
C |
16: 48,432,677 (GRCm39) |
V715A |
probably benign |
Het |
| Mycbp2 |
A |
T |
14: 103,466,928 (GRCm39) |
|
probably null |
Het |
| Ndst1 |
T |
C |
18: 60,833,517 (GRCm39) |
Y498C |
probably damaging |
Het |
| Nod1 |
C |
T |
6: 54,921,341 (GRCm39) |
A326T |
probably damaging |
Het |
| Or2ag15 |
A |
G |
7: 106,340,706 (GRCm39) |
V145A |
probably benign |
Het |
| Or4c11 |
T |
A |
2: 88,695,864 (GRCm39) |
M305K |
probably benign |
Het |
| Peg3 |
T |
C |
7: 6,710,624 (GRCm39) |
S1533G |
probably benign |
Het |
| Pgc |
G |
T |
17: 48,045,165 (GRCm39) |
G361V |
probably damaging |
Het |
| Phka1 |
C |
T |
X: 101,629,712 (GRCm39) |
R477H |
probably damaging |
Het |
| Plagl2 |
C |
T |
2: 153,074,574 (GRCm39) |
R109Q |
probably damaging |
Het |
| Prr36 |
T |
A |
8: 4,266,230 (GRCm39) |
I107F |
probably benign |
Het |
| Ptpdc1 |
T |
A |
13: 48,740,080 (GRCm39) |
R450S |
probably damaging |
Het |
| Ptprb |
A |
T |
10: 116,138,179 (GRCm39) |
D361V |
possibly damaging |
Het |
| Rbm44 |
A |
G |
1: 91,096,551 (GRCm39) |
D970G |
probably benign |
Het |
| Scrn2 |
T |
G |
11: 96,921,396 (GRCm39) |
V52G |
probably benign |
Het |
| Sdk1 |
C |
T |
5: 142,197,875 (GRCm39) |
T2176I |
probably benign |
Het |
| Serpina1d |
T |
A |
12: 103,729,993 (GRCm39) |
E396D |
probably benign |
Het |
| Slc38a5 |
A |
C |
X: 8,146,070 (GRCm39) |
Q465P |
probably benign |
Het |
| Slc38a5 |
G |
T |
X: 8,146,071 (GRCm39) |
Q465H |
probably benign |
Het |
| Smarca1 |
T |
C |
X: 46,981,255 (GRCm39) |
T48A |
possibly damaging |
Het |
| Trak2 |
A |
T |
1: 58,962,766 (GRCm39) |
I132N |
probably damaging |
Het |
| Trank1 |
A |
G |
9: 111,194,117 (GRCm39) |
T714A |
probably benign |
Het |
| Trank1 |
T |
C |
9: 111,194,327 (GRCm39) |
S784P |
probably benign |
Het |
| Trp53i13 |
G |
A |
11: 77,399,083 (GRCm39) |
|
probably benign |
Het |
| Trrap |
A |
C |
5: 144,767,831 (GRCm39) |
D2596A |
probably benign |
Het |
| Ttyh1 |
A |
T |
7: 4,127,656 (GRCm39) |
T19S |
probably damaging |
Het |
| Tyk2 |
C |
T |
9: 21,020,660 (GRCm39) |
V947M |
probably damaging |
Het |
| Ugt2b34 |
G |
A |
5: 87,040,689 (GRCm39) |
A411V |
possibly damaging |
Het |
| Virma |
T |
A |
4: 11,518,929 (GRCm39) |
Y725* |
probably null |
Het |
| Vmn1r192 |
A |
G |
13: 22,372,079 (GRCm39) |
L47P |
probably damaging |
Het |
| Vmn2r74 |
T |
C |
7: 85,610,500 (GRCm39) |
D64G |
possibly damaging |
Het |
|
| Other mutations in Ncapg2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
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 |
|
IGL03328:Ncapg2
|
APN |
12 |
116,403,677 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
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 |
2013-11-05 |
Incidental Mutation