Incidental Mutation 'R7440:Ncapg2'
| ID |
576914 |
| 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 |
045516-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R7440 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
12 |
| Chromosomal Location |
116368969-116427152 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to T
at 116414033 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glycine to Cysteine
at position 1068
(G1068C)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000081889
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000084828]
|
| AlphaFold |
Q6DFV1 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000084828
AA Change: G1068C
PolyPhen 2
Score 0.887 (Sensitivity: 0.82; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000081889
Gene: ENSMUSG00000042029
AA Change: G1068C
| 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: 100.0%
- 3x: 100.0%
- 10x: 99.7%
- 20x: 98.9%
|
| Validation Efficiency |
100% (69/69) |
| 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: 69 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acadm |
G |
A |
3: 153,628,626 (GRCm39) |
T403I |
probably damaging |
Het |
| Adat1 |
A |
T |
8: 112,716,530 (GRCm39) |
M64K |
probably damaging |
Het |
| Adcy2 |
C |
T |
13: 68,944,786 (GRCm39) |
V199M |
probably damaging |
Het |
| Ankrd13a |
T |
C |
5: 114,941,636 (GRCm39) |
S508P |
possibly damaging |
Het |
| Ap1g1 |
T |
A |
8: 110,529,356 (GRCm39) |
|
probably null |
Het |
| Bicral |
C |
T |
17: 47,136,710 (GRCm39) |
G167R |
probably damaging |
Het |
| Ccser2 |
T |
C |
14: 36,620,174 (GRCm39) |
K727E |
possibly damaging |
Het |
| Cep350 |
T |
G |
1: 155,816,518 (GRCm39) |
K332N |
probably damaging |
Het |
| Cfap68 |
A |
G |
9: 50,676,213 (GRCm39) |
V35A |
probably benign |
Het |
| Chd5 |
A |
G |
4: 152,469,108 (GRCm39) |
N1811S |
probably benign |
Het |
| Chpf |
A |
T |
1: 75,452,245 (GRCm39) |
V565D |
probably damaging |
Het |
| Clcn6 |
A |
T |
4: 148,098,652 (GRCm39) |
L489H |
probably damaging |
Het |
| Cntln |
C |
A |
4: 84,981,453 (GRCm39) |
T877K |
possibly damaging |
Het |
| Cog4 |
T |
C |
8: 111,606,338 (GRCm39) |
V630A |
probably benign |
Het |
| Col6a5 |
G |
T |
9: 105,758,630 (GRCm39) |
S2192* |
probably null |
Het |
| Cry2 |
G |
A |
2: 92,243,983 (GRCm39) |
R397W |
probably damaging |
Het |
| Cstdc2 |
A |
C |
2: 148,688,911 (GRCm39) |
C109W |
probably damaging |
Het |
| Cyp1b1 |
T |
C |
17: 80,020,986 (GRCm39) |
N252S |
probably damaging |
Het |
| Dhx9 |
T |
C |
1: 153,356,977 (GRCm39) |
I91V |
probably benign |
Het |
| Dnajb6 |
G |
A |
5: 29,962,857 (GRCm39) |
A256T |
possibly damaging |
Het |
| Epm2a |
T |
G |
10: 11,266,619 (GRCm39) |
Y121* |
probably null |
Het |
| Erlec1 |
T |
C |
11: 30,900,818 (GRCm39) |
I117V |
possibly damaging |
Het |
| Exoc8 |
T |
C |
8: 125,622,520 (GRCm39) |
M616V |
probably benign |
Het |
| Fmn1 |
A |
T |
2: 113,271,956 (GRCm39) |
Q108L |
unknown |
Het |
| Fuz |
T |
C |
7: 44,545,996 (GRCm39) |
L46P |
probably damaging |
Het |
| Insc |
T |
C |
7: 114,444,278 (GRCm39) |
S422P |
possibly damaging |
Het |
| Intu |
A |
G |
3: 40,651,981 (GRCm39) |
I813V |
probably benign |
Het |
| Jak3 |
T |
A |
8: 72,133,362 (GRCm39) |
S352T |
probably benign |
Het |
| Klf11 |
T |
C |
12: 24,705,490 (GRCm39) |
S315P |
probably benign |
Het |
| Lrrc63 |
T |
C |
14: 75,358,453 (GRCm39) |
N400D |
possibly damaging |
Het |
| Lrrk1 |
T |
C |
7: 65,940,602 (GRCm39) |
D760G |
probably damaging |
Het |
| Macf1 |
A |
T |
4: 123,349,239 (GRCm39) |
L3976* |
probably null |
Het |
| Map7 |
C |
T |
10: 20,137,605 (GRCm39) |
A259V |
probably damaging |
Het |
| Meioc |
T |
A |
11: 102,565,063 (GRCm39) |
D170E |
possibly damaging |
Het |
| Mgat5b |
T |
A |
11: 116,859,271 (GRCm39) |
Y34* |
probably null |
Het |
| Mgst1 |
A |
G |
6: 138,127,842 (GRCm39) |
K68R |
probably benign |
Het |
| Miga1 |
T |
A |
3: 152,043,683 (GRCm39) |
|
probably null |
Het |
| Mrps33 |
G |
A |
6: 39,779,413 (GRCm39) |
P94L |
probably damaging |
Het |
| Ndufaf7 |
C |
T |
17: 79,249,546 (GRCm39) |
H148Y |
probably damaging |
Het |
| Nkx6-3 |
A |
T |
8: 23,643,770 (GRCm39) |
D57V |
probably damaging |
Het |
| Nlrp1a |
T |
C |
11: 70,983,150 (GRCm39) |
D1272G |
probably damaging |
Het |
| Oit3 |
T |
C |
10: 59,265,392 (GRCm39) |
N291S |
probably damaging |
Het |
| Or1b1 |
A |
T |
2: 36,995,181 (GRCm39) |
H160Q |
possibly damaging |
Het |
| Pld1 |
T |
G |
3: 28,095,419 (GRCm39) |
S251A |
probably benign |
Het |
| Polr1h |
T |
A |
17: 37,268,736 (GRCm39) |
L75F |
probably benign |
Het |
| Potefam3a |
C |
T |
8: 20,356,948 (GRCm38) |
S254N |
unknown |
Het |
| Ppfibp1 |
T |
C |
6: 146,921,001 (GRCm39) |
S580P |
probably benign |
Het |
| Prdx6b |
A |
T |
2: 80,123,560 (GRCm39) |
D123V |
probably damaging |
Het |
| Ptprs |
A |
G |
17: 56,731,256 (GRCm39) |
L1050P |
possibly damaging |
Het |
| Rcc1 |
A |
C |
4: 132,065,110 (GRCm39) |
S138A |
probably damaging |
Het |
| Rimbp3 |
G |
T |
16: 17,031,065 (GRCm39) |
R1496S |
possibly damaging |
Het |
| Sacs |
T |
C |
14: 61,429,054 (GRCm39) |
V371A |
probably benign |
Het |
| Sfxn4 |
A |
G |
19: 60,830,642 (GRCm39) |
L260P |
possibly damaging |
Het |
| Slc17a1 |
G |
A |
13: 24,062,466 (GRCm39) |
S211N |
possibly damaging |
Het |
| Slc39a11 |
C |
T |
11: 113,452,918 (GRCm39) |
V8M |
probably damaging |
Het |
| Smpd2 |
A |
G |
10: 41,365,012 (GRCm39) |
I78T |
probably benign |
Het |
| Steap3 |
A |
C |
1: 120,169,248 (GRCm39) |
F350V |
probably benign |
Het |
| Syt17 |
A |
T |
7: 117,981,107 (GRCm39) |
V462E |
probably damaging |
Het |
| Tlr11 |
T |
A |
14: 50,598,801 (GRCm39) |
D262E |
probably benign |
Het |
| Tnfrsf9 |
T |
C |
4: 151,014,331 (GRCm39) |
V10A |
probably benign |
Het |
| Trpv3 |
C |
A |
11: 73,168,800 (GRCm39) |
Q87K |
probably benign |
Het |
| Ugt1a5 |
T |
C |
1: 88,094,281 (GRCm39) |
Y170H |
probably benign |
Het |
| Urb1 |
A |
G |
16: 90,584,296 (GRCm39) |
L562P |
probably damaging |
Het |
| Usp3 |
G |
T |
9: 66,437,537 (GRCm39) |
N299K |
probably benign |
Het |
| Vmn1r83 |
T |
C |
7: 12,055,556 (GRCm39) |
Y167C |
probably damaging |
Het |
| Vmn2r117 |
T |
A |
17: 23,694,539 (GRCm39) |
Y436F |
probably benign |
Het |
| Vps13d |
A |
G |
4: 144,854,981 (GRCm39) |
I2220T |
|
Het |
| Zfp936 |
T |
A |
7: 42,836,685 (GRCm39) |
V32D |
probably damaging |
Het |
| Zswim2 |
A |
G |
2: 83,751,063 (GRCm39) |
C259R |
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 |
|
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 |
|
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'- TACACATAGGGGAGGACCTC -3'
(R):5'- ATTTAGACAGCACTAGGGAGC -3'
Sequencing Primer
(F):5'- AGGACCTCAGGCATCTTCC -3'
(R):5'- CCTATCCTGGCAGAGGGGAG -3'
|
| Posted On |
2019-10-07 |
Incidental Mutation