Incidental Mutation 'R4845:Ncapg2'
| ID |
372120 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ncapg2
|
| Ensembl Gene |
ENSMUSG00000042029 |
| Gene Name |
non-SMC condensin II complex, subunit G2 |
| Synonyms |
5830426I05Rik, Mtb, mCAP-G2, Luzp5 |
| MMRRC Submission |
042458-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R4845 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
12 |
| Chromosomal Location |
116368969-116427152 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 116404208 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glycine
at position 893
(D893G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000081889
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000084828]
|
| AlphaFold |
Q6DFV1 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000084828
AA Change: D893G
PolyPhen 2
Score 0.963 (Sensitivity: 0.78; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000081889
Gene: ENSMUSG00000042029
AA Change: D893G
| 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 |
- 1x: 99.1%
- 3x: 98.4%
- 10x: 96.7%
- 20x: 93.6%
|
| 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: 57 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcg1 |
C |
T |
17: 31,333,057 (GRCm39) |
S600F |
possibly damaging |
Het |
| Arhgap21 |
T |
A |
2: 20,885,998 (GRCm39) |
N393I |
probably damaging |
Het |
| Atp5pf |
T |
A |
16: 84,628,365 (GRCm39) |
I6F |
possibly damaging |
Het |
| B4galt6 |
A |
G |
18: 20,821,517 (GRCm39) |
L337S |
probably benign |
Het |
| C8b |
G |
T |
4: 104,649,009 (GRCm39) |
V308F |
possibly damaging |
Het |
| Cables1 |
A |
G |
18: 12,077,545 (GRCm39) |
R558G |
probably damaging |
Het |
| Chmp2b |
T |
A |
16: 65,347,862 (GRCm39) |
Q38L |
probably damaging |
Het |
| Clca3b |
A |
T |
3: 144,531,031 (GRCm39) |
I773K |
probably benign |
Het |
| Cnmd |
T |
C |
14: 79,899,448 (GRCm39) |
T2A |
probably benign |
Het |
| Crb1 |
C |
T |
1: 139,170,772 (GRCm39) |
D812N |
probably benign |
Het |
| Dnah7c |
T |
A |
1: 46,832,692 (GRCm39) |
D3901E |
probably damaging |
Het |
| Dst |
T |
C |
1: 34,232,208 (GRCm39) |
V3445A |
probably benign |
Het |
| Epn1 |
T |
A |
7: 5,096,908 (GRCm39) |
I230N |
possibly damaging |
Het |
| Exoc6b |
G |
T |
6: 84,812,119 (GRCm39) |
D627E |
probably benign |
Het |
| Exosc1 |
T |
C |
19: 41,919,797 (GRCm39) |
K74E |
possibly damaging |
Het |
| Extl3 |
T |
C |
14: 65,315,024 (GRCm39) |
T53A |
probably benign |
Het |
| Fam227a |
C |
T |
15: 79,533,912 (GRCm39) |
R17H |
probably damaging |
Het |
| Faxc |
G |
T |
4: 21,993,358 (GRCm39) |
W334L |
probably damaging |
Het |
| Gabrr3 |
T |
C |
16: 59,246,833 (GRCm39) |
I94T |
probably damaging |
Het |
| Ifi203 |
A |
T |
1: 173,754,595 (GRCm39) |
M298K |
probably benign |
Het |
| Igkv4-78 |
A |
T |
6: 69,037,207 (GRCm39) |
M1K |
probably null |
Het |
| Iqcm |
G |
T |
8: 76,472,980 (GRCm39) |
R273I |
probably damaging |
Het |
| Itga1 |
G |
T |
13: 115,110,708 (GRCm39) |
S961* |
probably null |
Het |
| Jmy |
T |
A |
13: 93,576,246 (GRCm39) |
M886L |
possibly damaging |
Het |
| Lrp2 |
T |
C |
2: 69,339,585 (GRCm39) |
T1109A |
possibly damaging |
Het |
| Mastl |
A |
G |
2: 23,030,010 (GRCm39) |
S239P |
probably benign |
Het |
| Mettl14 |
T |
A |
3: 123,165,004 (GRCm39) |
E112V |
probably damaging |
Het |
| Mfng |
C |
T |
15: 78,648,588 (GRCm39) |
R163H |
probably benign |
Het |
| Musk |
A |
G |
4: 58,296,679 (GRCm39) |
D93G |
probably damaging |
Het |
| Myoc |
C |
T |
1: 162,475,034 (GRCm39) |
T195M |
possibly damaging |
Het |
| Nrap |
C |
T |
19: 56,339,902 (GRCm39) |
V908M |
probably benign |
Het |
| Or4a79 |
T |
C |
2: 89,552,120 (GRCm39) |
I112V |
probably benign |
Het |
| Or52n5 |
T |
C |
7: 104,588,570 (GRCm39) |
V279A |
possibly damaging |
Het |
| Or5g9 |
T |
A |
2: 85,551,836 (GRCm39) |
L29* |
probably null |
Het |
| Orc4 |
T |
C |
2: 48,799,478 (GRCm39) |
N333S |
probably benign |
Het |
| Otx1 |
C |
A |
11: 21,947,037 (GRCm39) |
A91S |
probably damaging |
Het |
| Pcdhb8 |
G |
A |
18: 37,489,771 (GRCm39) |
G483D |
probably benign |
Het |
| Pclo |
A |
T |
5: 14,729,132 (GRCm39) |
|
probably benign |
Het |
| Ppm1k |
A |
T |
6: 57,499,753 (GRCm39) |
Y174* |
probably null |
Het |
| Ptprq |
A |
T |
10: 107,489,393 (GRCm39) |
S911T |
probably benign |
Het |
| Rp1 |
C |
A |
1: 4,419,451 (GRCm39) |
A554S |
probably benign |
Het |
| Sema3f |
T |
C |
9: 107,562,700 (GRCm39) |
Y427C |
probably damaging |
Het |
| Slc12a1 |
A |
T |
2: 125,030,146 (GRCm39) |
I573F |
probably damaging |
Het |
| Slc17a1 |
A |
T |
13: 24,060,601 (GRCm39) |
Y201F |
probably damaging |
Het |
| Slc4a7 |
A |
T |
14: 14,733,803 (GRCm38) |
H71L |
probably damaging |
Het |
| Spata6l |
G |
T |
19: 28,905,148 (GRCm39) |
D305E |
probably benign |
Het |
| St13 |
G |
C |
15: 81,283,786 (GRCm39) |
R4G |
probably benign |
Het |
| Tab1 |
C |
T |
15: 80,036,964 (GRCm39) |
R217W |
probably damaging |
Het |
| Taf6 |
T |
A |
5: 138,180,909 (GRCm39) |
Y224F |
possibly damaging |
Het |
| Tmc5 |
C |
G |
7: 118,241,604 (GRCm39) |
F432L |
probably damaging |
Het |
| Trbc1 |
A |
T |
6: 41,516,169 (GRCm39) |
|
probably benign |
Het |
| Trbv21 |
A |
G |
6: 41,179,879 (GRCm39) |
N65S |
probably benign |
Het |
| Trim15 |
G |
A |
17: 37,177,875 (GRCm39) |
P40L |
probably benign |
Het |
| Txnip |
T |
C |
3: 96,466,916 (GRCm39) |
S197P |
probably benign |
Het |
| Vmn1r167 |
T |
A |
7: 23,204,158 (GRCm39) |
Q286L |
probably benign |
Het |
| Wnt9a |
A |
G |
11: 59,222,067 (GRCm39) |
I322V |
probably benign |
Het |
| Zfp879 |
T |
C |
11: 50,724,672 (GRCm39) |
E128G |
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 |
|
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- TATCACATCTTGGAGAGGCTTTG -3'
(R):5'- TCTCTGAACCTGCTAGCTGC -3'
Sequencing Primer
(F):5'- AGAGGCTTTGTGGGCTTGAC -3'
(R):5'- AAAGCCAGTGTGTGTTACTTGGAAC -3'
|
| Posted On |
2016-03-01 |
Incidental Mutation