Incidental Mutation 'R7445:Ncapg2'
| ID |
577246 |
| 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 |
045521-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R7445 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
12 |
| Chromosomal Location |
116368969-116427152 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 116382888 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Valine
at position 240
(I240V)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000081889
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000084828]
|
| AlphaFold |
Q6DFV1 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000084828
AA Change: I240V
PolyPhen 2
Score 0.502 (Sensitivity: 0.88; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000081889
Gene: ENSMUSG00000042029
AA Change: I240V
| 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: 99.8%
- 20x: 99.2%
|
| Validation Efficiency |
100% (67/67) |
| 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: 65 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 0610040J01Rik |
T |
A |
5: 64,055,962 (GRCm39) |
S233T |
probably damaging |
Het |
| 1700034E13Rik |
T |
A |
18: 52,793,553 (GRCm39) |
C29S |
probably damaging |
Het |
| Acsbg3 |
G |
A |
17: 57,189,973 (GRCm39) |
R333Q |
possibly damaging |
Het |
| Ank3 |
A |
G |
10: 69,827,954 (GRCm39) |
T2208A |
|
Het |
| Ap4s1 |
T |
C |
12: 51,785,424 (GRCm39) |
L132P |
probably damaging |
Het |
| Ascl4 |
C |
T |
10: 85,764,364 (GRCm39) |
R4C |
probably benign |
Het |
| Brd7 |
A |
T |
8: 89,088,336 (GRCm39) |
Y18N |
probably damaging |
Het |
| Cacna2d3 |
A |
G |
14: 28,780,575 (GRCm39) |
S648P |
possibly damaging |
Het |
| Camta1 |
C |
T |
4: 151,228,748 (GRCm39) |
E695K |
possibly damaging |
Het |
| Ccdc28b |
A |
G |
4: 129,516,400 (GRCm39) |
F53L |
probably benign |
Het |
| Chaf1a |
A |
G |
17: 56,369,170 (GRCm39) |
D467G |
possibly damaging |
Het |
| Cnnm1 |
G |
A |
19: 43,429,260 (GRCm39) |
R126H |
possibly damaging |
Het |
| Cog5 |
T |
G |
12: 31,969,671 (GRCm39) |
S730R |
possibly damaging |
Het |
| Col11a1 |
A |
T |
3: 113,987,578 (GRCm39) |
E1374D |
unknown |
Het |
| Csmd1 |
A |
G |
8: 16,208,268 (GRCm39) |
I1229T |
possibly damaging |
Het |
| Degs1l |
A |
G |
1: 180,882,577 (GRCm39) |
N113S |
possibly damaging |
Het |
| Dnajc30 |
T |
C |
5: 135,093,232 (GRCm39) |
L43P |
probably damaging |
Het |
| Eif3f |
C |
T |
7: 108,533,865 (GRCm39) |
T76M |
unknown |
Het |
| Ermap |
G |
A |
4: 119,045,907 (GRCm39) |
T42I |
unknown |
Het |
| Gpd1l |
C |
T |
9: 114,749,742 (GRCm39) |
G25S |
probably damaging |
Het |
| Heatr1 |
G |
T |
13: 12,445,919 (GRCm39) |
W1632L |
possibly damaging |
Het |
| Ice1 |
T |
C |
13: 70,744,286 (GRCm39) |
D29G |
|
Het |
| Ipo8 |
T |
C |
6: 148,691,315 (GRCm39) |
D685G |
probably benign |
Het |
| Klra10 |
T |
C |
6: 130,252,819 (GRCm39) |
T152A |
probably benign |
Het |
| Lmntd1 |
T |
A |
6: 145,375,693 (GRCm39) |
S82C |
probably damaging |
Het |
| Maip1 |
T |
C |
1: 57,446,190 (GRCm39) |
S87P |
possibly damaging |
Het |
| Mapkapk2 |
A |
G |
1: 131,025,256 (GRCm39) |
S3P |
unknown |
Het |
| Mei4 |
A |
G |
9: 81,772,292 (GRCm39) |
Y35C |
possibly damaging |
Het |
| Ms4a14 |
T |
G |
19: 11,280,336 (GRCm39) |
K741Q |
probably benign |
Het |
| Mtcl3 |
T |
C |
10: 29,072,999 (GRCm39) |
S764P |
possibly damaging |
Het |
| Naip2 |
A |
C |
13: 100,298,290 (GRCm39) |
I582S |
probably benign |
Het |
| Ncbp1 |
T |
A |
4: 46,149,914 (GRCm39) |
M145K |
probably damaging |
Het |
| Nmur2 |
A |
G |
11: 55,923,766 (GRCm39) |
F263L |
probably damaging |
Het |
| Ntrk2 |
A |
G |
13: 58,994,576 (GRCm39) |
E164G |
probably benign |
Het |
| Or2ag1 |
A |
G |
7: 106,472,549 (GRCm39) |
L301S |
possibly damaging |
Het |
| Or4c58 |
T |
A |
2: 89,674,616 (GRCm39) |
T234S |
probably damaging |
Het |
| Or6c5b |
A |
T |
10: 129,245,754 (GRCm39) |
D173V |
probably benign |
Het |
| P3h2 |
T |
A |
16: 25,803,815 (GRCm39) |
Y317F |
probably damaging |
Het |
| Pcmtd1 |
C |
T |
1: 7,190,644 (GRCm39) |
R38C |
probably damaging |
Het |
| Pcyox1 |
T |
C |
6: 86,368,661 (GRCm39) |
T286A |
possibly damaging |
Het |
| Pdxk |
T |
C |
10: 78,283,801 (GRCm39) |
D131G |
probably benign |
Het |
| Ppl |
T |
C |
16: 4,906,932 (GRCm39) |
D1121G |
probably damaging |
Het |
| Prkra |
T |
C |
2: 76,463,942 (GRCm39) |
D240G |
probably benign |
Het |
| Ptgs1 |
C |
A |
2: 36,135,222 (GRCm39) |
N395K |
probably benign |
Het |
| Ptprq |
A |
T |
10: 107,426,820 (GRCm39) |
Y1572N |
probably damaging |
Het |
| Pyroxd1 |
A |
T |
6: 142,304,227 (GRCm39) |
H326L |
probably benign |
Het |
| Rapgef5 |
A |
G |
12: 117,719,704 (GRCm39) |
D778G |
probably benign |
Het |
| Rbm46 |
T |
A |
3: 82,771,517 (GRCm39) |
E366V |
probably damaging |
Het |
| Rnd1 |
G |
T |
15: 98,568,550 (GRCm39) |
H209Q |
probably benign |
Het |
| Rnf122 |
A |
T |
8: 31,608,528 (GRCm39) |
D32V |
possibly damaging |
Het |
| Samd4b |
G |
A |
7: 28,105,881 (GRCm39) |
P446S |
probably benign |
Het |
| Slco1a5 |
C |
A |
6: 142,204,734 (GRCm39) |
A187S |
possibly damaging |
Het |
| Smarca4 |
G |
A |
9: 21,597,543 (GRCm39) |
V1436M |
probably damaging |
Het |
| Smok2a |
G |
A |
17: 13,445,526 (GRCm39) |
G368R |
possibly damaging |
Het |
| Smok3c |
T |
A |
5: 138,062,757 (GRCm39) |
H81Q |
probably damaging |
Het |
| Stk16 |
T |
C |
1: 75,190,296 (GRCm39) |
V245A |
probably damaging |
Het |
| Svep1 |
A |
T |
4: 58,094,122 (GRCm39) |
N1505K |
possibly damaging |
Het |
| Tigd4 |
G |
A |
3: 84,502,471 (GRCm39) |
A463T |
probably benign |
Het |
| Tmem117 |
T |
C |
15: 94,612,799 (GRCm39) |
F112L |
probably benign |
Het |
| Tmem72 |
A |
G |
6: 116,675,291 (GRCm39) |
I67T |
probably benign |
Het |
| Tnik |
A |
G |
3: 28,718,058 (GRCm39) |
|
probably null |
Het |
| Trav14-2 |
A |
G |
14: 53,878,515 (GRCm39) |
Q66R |
probably damaging |
Het |
| Trpv6 |
T |
A |
6: 41,598,276 (GRCm39) |
D677V |
probably damaging |
Het |
| Vgll4 |
C |
T |
6: 114,839,157 (GRCm39) |
S278N |
unknown |
Het |
| Wdfy4 |
C |
T |
14: 32,792,575 (GRCm39) |
W2157* |
probably null |
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 |
|
R7440:Ncapg2
|
UTSW |
12 |
116,414,033 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
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'- AAGTGATACTGACTTGGGCTTC -3'
(R):5'- AGACTGGAGATCAACCTGGG -3'
Sequencing Primer
(F):5'- GGGCTTCATTTTTATAAATAGCTGAC -3'
(R):5'- GGGCTACATATCAAGACCTTGTC -3'
|
| Posted On |
2019-10-07 |
Incidental Mutation