Incidental Mutation 'R5294:Ncapg2'
| ID |
405323 |
| 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 |
042877-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R5294 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
12 |
| Chromosomal Location |
116368969-116427152 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to T
at 116391414 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Leucine
at position 488
(V488L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000081889
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000084828]
|
| AlphaFold |
Q6DFV1 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000084828
AA Change: V488L
PolyPhen 2
Score 0.543 (Sensitivity: 0.88; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000081889
Gene: ENSMUSG00000042029
AA Change: V488L
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
14 |
25 |
N/A |
INTRINSIC |
|
Pfam:Condensin2nSMC
|
212 |
361 |
7.2e-62 |
PFAM |
|
| Meta Mutation Damage Score |
0.1106 |
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.5%
- 20x: 96.0%
|
| Validation Efficiency |
97% (70/72) |
| 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: 70 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930579C12Rik |
T |
C |
9: 89,034,056 (GRCm39) |
|
noncoding transcript |
Het |
| Acaca |
A |
G |
11: 84,282,345 (GRCm39) |
E2154G |
probably benign |
Het |
| Acacb |
T |
C |
5: 114,380,013 (GRCm39) |
F2056L |
probably damaging |
Het |
| Aff1 |
A |
G |
5: 103,959,023 (GRCm39) |
|
probably benign |
Het |
| Amn1 |
T |
A |
6: 149,086,622 (GRCm39) |
|
probably benign |
Het |
| Arid1a |
C |
A |
4: 133,418,366 (GRCm39) |
|
probably benign |
Het |
| Aste1 |
T |
A |
9: 105,279,904 (GRCm39) |
|
probably null |
Het |
| Asxl3 |
T |
A |
18: 22,649,496 (GRCm39) |
V495D |
possibly damaging |
Het |
| Atp1a3 |
T |
A |
7: 24,687,473 (GRCm39) |
H688L |
probably damaging |
Het |
| B3gnt8 |
T |
C |
7: 25,328,191 (GRCm39) |
L207P |
probably damaging |
Het |
| Baz2b |
T |
C |
2: 59,808,946 (GRCm39) |
H101R |
probably benign |
Het |
| Bicc1 |
G |
A |
10: 70,783,730 (GRCm39) |
T387M |
possibly damaging |
Het |
| Champ1 |
A |
C |
8: 13,928,981 (GRCm39) |
K380Q |
probably damaging |
Het |
| Cnst |
A |
G |
1: 179,438,005 (GRCm39) |
E523G |
probably benign |
Het |
| Cops6 |
G |
C |
5: 138,159,378 (GRCm39) |
|
probably benign |
Het |
| Cp |
G |
C |
3: 20,020,480 (GRCm39) |
V158L |
probably benign |
Het |
| Cyfip1 |
T |
A |
7: 55,523,231 (GRCm39) |
M52K |
possibly damaging |
Het |
| Dars1 |
A |
T |
1: 128,292,039 (GRCm39) |
F480I |
probably benign |
Het |
| Diaph1 |
C |
A |
18: 38,030,603 (GRCm39) |
E284* |
probably null |
Het |
| Diaph1 |
T |
C |
18: 38,030,633 (GRCm39) |
M274V |
unknown |
Het |
| Dock8 |
G |
A |
19: 25,038,517 (GRCm39) |
V68M |
probably benign |
Het |
| Elavl4 |
A |
G |
4: 110,068,627 (GRCm39) |
F247L |
possibly damaging |
Het |
| Emc10 |
C |
T |
7: 44,145,863 (GRCm39) |
|
probably benign |
Het |
| Fbxw16 |
T |
C |
9: 109,265,712 (GRCm39) |
D369G |
probably benign |
Het |
| Fgr |
A |
T |
4: 132,724,811 (GRCm39) |
D304V |
probably benign |
Het |
| Filip1l |
G |
A |
16: 57,390,399 (GRCm39) |
S91N |
possibly damaging |
Het |
| Haus8 |
A |
G |
8: 71,708,354 (GRCm39) |
S103P |
unknown |
Het |
| Hscb |
A |
G |
5: 110,982,658 (GRCm39) |
L143P |
probably damaging |
Het |
| Hsd11b2 |
A |
T |
8: 106,249,929 (GRCm39) |
M347L |
probably benign |
Het |
| Jrk |
C |
A |
15: 74,579,185 (GRCm39) |
E33D |
possibly damaging |
Het |
| Kbtbd8 |
T |
A |
6: 95,098,813 (GRCm39) |
Y123* |
probably null |
Het |
| Lrrc37 |
A |
G |
11: 103,507,057 (GRCm39) |
|
probably benign |
Het |
| Mis18bp1 |
A |
C |
12: 65,203,817 (GRCm39) |
M59R |
probably damaging |
Het |
| Mrps27 |
T |
C |
13: 99,546,381 (GRCm39) |
V260A |
probably damaging |
Het |
| Nepn |
A |
T |
10: 52,276,896 (GRCm39) |
N211Y |
probably benign |
Het |
| Ntrk3 |
A |
T |
7: 78,167,254 (GRCm39) |
|
probably null |
Het |
| Or10x4 |
A |
T |
1: 174,218,791 (GRCm39) |
Y52F |
probably benign |
Het |
| Or11h23 |
A |
G |
14: 50,947,900 (GRCm39) |
T38A |
possibly damaging |
Het |
| Or11h23 |
A |
G |
14: 50,948,236 (GRCm39) |
I150V |
probably benign |
Het |
| Or52w1 |
C |
T |
7: 105,017,620 (GRCm39) |
T20I |
probably benign |
Het |
| Otud4 |
A |
T |
8: 80,399,521 (GRCm39) |
Q744L |
possibly damaging |
Het |
| P2ry14 |
A |
T |
3: 59,022,989 (GRCm39) |
I166N |
possibly damaging |
Het |
| Pak2 |
T |
A |
16: 31,840,648 (GRCm39) |
N478Y |
probably damaging |
Het |
| Papss2 |
A |
G |
19: 32,616,400 (GRCm39) |
D202G |
probably benign |
Het |
| Pcdh7 |
C |
A |
5: 57,885,453 (GRCm39) |
|
probably null |
Het |
| Peg3 |
C |
A |
7: 6,720,848 (GRCm39) |
S19I |
possibly damaging |
Het |
| Prim2 |
G |
T |
1: 33,707,974 (GRCm39) |
T40K |
probably benign |
Het |
| Ranbp2 |
T |
C |
10: 58,314,490 (GRCm39) |
F1737L |
probably benign |
Het |
| Rex2 |
A |
C |
4: 147,142,442 (GRCm39) |
N310T |
probably benign |
Het |
| Rnf123 |
AT |
ATT |
9: 107,941,202 (GRCm39) |
|
probably null |
Het |
| Rnf39 |
C |
T |
17: 37,258,092 (GRCm39) |
A86V |
probably damaging |
Het |
| Ror1 |
A |
T |
4: 100,283,135 (GRCm39) |
N400I |
probably benign |
Het |
| Slc38a8 |
C |
T |
8: 120,221,028 (GRCm39) |
G177D |
probably damaging |
Het |
| Slc43a3 |
T |
C |
2: 84,786,654 (GRCm39) |
V445A |
probably benign |
Het |
| Sptbn2 |
A |
G |
19: 4,768,936 (GRCm39) |
N23S |
possibly damaging |
Het |
| Taf5l |
A |
G |
8: 124,734,957 (GRCm39) |
F74L |
probably benign |
Het |
| Trappc11 |
G |
C |
8: 47,983,766 (GRCm39) |
A42G |
possibly damaging |
Het |
| Trim30d |
T |
C |
7: 104,121,695 (GRCm39) |
K350R |
probably damaging |
Het |
| Trnt1 |
T |
C |
6: 106,750,375 (GRCm39) |
F93S |
probably damaging |
Het |
| Ube2c |
T |
C |
2: 164,619,110 (GRCm39) |
V161A |
probably benign |
Het |
| Usp24 |
A |
G |
4: 106,219,554 (GRCm39) |
E555G |
possibly damaging |
Het |
| Vmn2r55 |
T |
G |
7: 12,385,791 (GRCm39) |
S730R |
probably damaging |
Het |
| Vmn2r89 |
T |
A |
14: 51,692,570 (GRCm39) |
N124K |
probably benign |
Het |
| Vmn2r98 |
T |
A |
17: 19,290,016 (GRCm39) |
C517* |
probably null |
Het |
| Vps13a |
A |
T |
19: 16,619,031 (GRCm39) |
I2845N |
probably damaging |
Het |
| Vps51 |
T |
G |
19: 6,121,063 (GRCm39) |
E283D |
probably benign |
Het |
| Xpo5 |
T |
C |
17: 46,547,848 (GRCm39) |
V896A |
probably benign |
Het |
| Zfp2 |
T |
C |
11: 50,792,068 (GRCm39) |
|
probably benign |
Het |
| Zgrf1 |
G |
A |
3: 127,394,629 (GRCm39) |
M1328I |
probably benign |
Het |
| Zswim5 |
A |
G |
4: 116,836,774 (GRCm39) |
D686G |
possibly 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 |
|
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 |
|
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'- CTCTTAGATGCTTCCTACCTAAATGT -3'
(R):5'- CACACATTATTTCTAGAACCTTTCCT -3'
Sequencing Primer
(F):5'- GTGTTCTAATTTGAAGTGCTTTCTCC -3'
(R):5'- ACCTTTCCTTAGAAACATAAAACCAC -3'
|
| Posted On |
2016-07-22 |
Incidental Mutation