Incidental Mutation 'R1524:Ncapg2'
ID |
167737 |
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 |
039565-MU
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R1524 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
12 |
Chromosomal Location |
116368969-116427152 bp(+) (GRCm39) |
Type of Mutation |
splice site |
DNA Base Change (assembly) |
T to C
at 116398198 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Ref Sequence |
ENSEMBL: ENSMUSP00000081889
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000084828]
|
AlphaFold |
Q6DFV1 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000084828
|
SMART Domains |
Protein: ENSMUSP00000081889 Gene: ENSMUSG00000042029
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: 99.3%
- 3x: 98.7%
- 10x: 97.3%
- 20x: 95.5%
|
Validation Efficiency |
97% (68/70) |
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 |
2310003L06Rik |
G |
T |
5: 88,119,548 (GRCm39) |
V102L |
probably benign |
Het |
Adck1 |
T |
C |
12: 88,368,854 (GRCm39) |
Y111H |
probably damaging |
Het |
Adcy10 |
G |
T |
1: 165,345,972 (GRCm39) |
K340N |
probably damaging |
Het |
Aebp1 |
T |
C |
11: 5,820,089 (GRCm39) |
V355A |
probably damaging |
Het |
Atp2b2 |
T |
C |
6: 113,751,162 (GRCm39) |
|
probably benign |
Het |
Atrn |
T |
C |
2: 130,799,000 (GRCm39) |
V390A |
probably benign |
Het |
Bpifc |
T |
A |
10: 85,813,599 (GRCm39) |
Q315L |
probably benign |
Het |
C1qtnf6 |
T |
G |
15: 78,409,092 (GRCm39) |
|
probably null |
Het |
Cab39l |
A |
G |
14: 59,757,186 (GRCm39) |
|
probably benign |
Het |
Capn12 |
T |
A |
7: 28,582,189 (GRCm39) |
|
probably benign |
Het |
Ceacam18 |
A |
C |
7: 43,288,779 (GRCm39) |
T177P |
possibly damaging |
Het |
Ces5a |
A |
T |
8: 94,252,293 (GRCm39) |
F200I |
probably damaging |
Het |
Cldn19 |
G |
T |
4: 119,114,248 (GRCm39) |
|
probably null |
Het |
Cntnap2 |
A |
G |
6: 46,507,613 (GRCm39) |
S46P |
probably damaging |
Het |
Dchs1 |
A |
G |
7: 105,413,732 (GRCm39) |
Y1028H |
probably damaging |
Het |
Exd1 |
A |
T |
2: 119,355,155 (GRCm39) |
F253L |
probably damaging |
Het |
Fam161a |
A |
G |
11: 22,965,826 (GRCm39) |
N40D |
possibly damaging |
Het |
Fam81a |
A |
T |
9: 70,032,390 (GRCm39) |
I34N |
probably damaging |
Het |
Fchsd1 |
A |
C |
18: 38,098,950 (GRCm39) |
|
probably null |
Het |
Fut11 |
T |
A |
14: 20,746,234 (GRCm39) |
F359I |
possibly damaging |
Het |
Fut7 |
T |
C |
2: 25,315,159 (GRCm39) |
V92A |
probably damaging |
Het |
Grid2 |
C |
G |
6: 64,406,738 (GRCm39) |
F699L |
possibly damaging |
Het |
Grin2a |
A |
G |
16: 9,481,467 (GRCm39) |
S445P |
possibly damaging |
Het |
H2al2b |
A |
C |
Y: 2,720,391 (GRCm39) |
F95C |
probably damaging |
Het |
Hecw2 |
T |
C |
1: 53,890,777 (GRCm39) |
D1246G |
probably damaging |
Het |
Ifit1 |
A |
G |
19: 34,625,032 (GRCm39) |
N56S |
probably damaging |
Het |
Ldb3 |
C |
A |
14: 34,277,313 (GRCm39) |
V354L |
probably benign |
Het |
Lrig2 |
T |
C |
3: 104,371,192 (GRCm39) |
Y479C |
probably benign |
Het |
Ltn1 |
A |
G |
16: 87,178,444 (GRCm39) |
V1595A |
probably damaging |
Het |
Macf1 |
A |
G |
4: 123,326,323 (GRCm39) |
V2939A |
possibly damaging |
Het |
Mapre3 |
T |
G |
5: 31,019,261 (GRCm39) |
I35S |
probably damaging |
Het |
Med16 |
A |
T |
10: 79,734,150 (GRCm39) |
L588Q |
probably damaging |
Het |
Ncstn |
C |
A |
1: 171,899,716 (GRCm39) |
R322L |
possibly damaging |
Het |
Ndst1 |
A |
T |
18: 60,831,576 (GRCm39) |
I594N |
probably damaging |
Het |
Ndst3 |
A |
G |
3: 123,342,555 (GRCm39) |
I752T |
possibly damaging |
Het |
Obscn |
G |
T |
11: 59,006,681 (GRCm39) |
S1185R |
probably damaging |
Het |
Or5b112 |
T |
A |
19: 13,319,486 (GRCm39) |
C121* |
probably null |
Het |
Or6aa1 |
A |
G |
7: 86,044,020 (GRCm39) |
S229P |
probably benign |
Het |
Or9q1 |
A |
T |
19: 13,805,679 (GRCm39) |
L27H |
probably damaging |
Het |
Otof |
T |
A |
5: 30,536,900 (GRCm39) |
D1285V |
probably benign |
Het |
Pcnx2 |
A |
G |
8: 126,617,880 (GRCm39) |
I125T |
probably benign |
Het |
Pde4a |
T |
C |
9: 21,112,543 (GRCm39) |
S240P |
probably damaging |
Het |
Pi15 |
T |
C |
1: 17,690,076 (GRCm39) |
S126P |
probably benign |
Het |
Pkhd1 |
T |
C |
1: 20,188,004 (GRCm39) |
S3435G |
probably damaging |
Het |
Plin1 |
C |
A |
7: 79,376,338 (GRCm39) |
V133L |
probably benign |
Het |
Pnpt1 |
T |
A |
11: 29,080,776 (GRCm39) |
C7S |
unknown |
Het |
Ppp3ca |
A |
T |
3: 136,503,579 (GRCm39) |
M51L |
probably benign |
Het |
Primpol |
G |
T |
8: 47,039,502 (GRCm39) |
|
probably benign |
Het |
Prlr |
T |
C |
15: 10,319,419 (GRCm39) |
V116A |
probably damaging |
Het |
Ptgr3 |
A |
G |
18: 84,112,831 (GRCm39) |
E169G |
probably benign |
Het |
Rnf139 |
A |
G |
15: 58,761,266 (GRCm39) |
D35G |
probably damaging |
Het |
Rsbn1l |
T |
A |
5: 21,156,671 (GRCm39) |
K38M |
probably damaging |
Het |
Ryr3 |
T |
A |
2: 112,699,427 (GRCm39) |
I888F |
probably damaging |
Het |
Sec16a |
C |
A |
2: 26,318,394 (GRCm39) |
V1566F |
probably damaging |
Het |
Sin3b |
A |
G |
8: 73,479,915 (GRCm39) |
T874A |
probably benign |
Het |
Skic3 |
T |
A |
13: 76,286,491 (GRCm39) |
D891E |
probably benign |
Het |
Slc5a5 |
A |
C |
8: 71,344,978 (GRCm39) |
Y110D |
probably damaging |
Het |
Smarcd2 |
C |
T |
11: 106,157,978 (GRCm39) |
V97I |
probably benign |
Het |
St6galnac2 |
G |
A |
11: 116,575,313 (GRCm39) |
|
probably benign |
Het |
Tbc1d22b |
T |
C |
17: 29,789,585 (GRCm39) |
L149P |
probably damaging |
Het |
Tekt2 |
T |
C |
4: 126,217,442 (GRCm39) |
I208V |
probably benign |
Het |
Tenm3 |
A |
G |
8: 48,682,016 (GRCm39) |
I2522T |
possibly damaging |
Het |
Ttll5 |
T |
A |
12: 85,911,342 (GRCm39) |
Y233* |
probably null |
Het |
Vcpip1 |
C |
T |
1: 9,794,727 (GRCm39) |
E1215K |
probably damaging |
Het |
Wdr4 |
T |
C |
17: 31,728,737 (GRCm39) |
|
probably benign |
Het |
Zfp703 |
G |
A |
8: 27,469,401 (GRCm39) |
G355D |
probably damaging |
Het |
Zfp830 |
T |
A |
11: 82,655,794 (GRCm39) |
D199E |
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 |
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 |
|
Predicted Primers |
PCR Primer
(F):5'- TGAGACAGGGGCTTTGTTATGCAC -3'
(R):5'- CTTCAGGTACTCTGGAAGCACAGC -3'
Sequencing Primer
(F):5'- AAGTGTCTAGCAGTCAGTGCC -3'
(R):5'- GGATGTTCTTCCAGAGGATCACA -3'
|
Posted On |
2014-04-13 |