Incidental Mutation 'R1507:Ncapg2'
| ID |
168019 |
| 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 |
039555-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R1507 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
12 |
| Chromosomal Location |
116368969-116427152 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 116424186 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Phenylalanine to Serine
at position 1123
(F1123S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000081889
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000084828]
|
| AlphaFold |
Q6DFV1 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000084828
AA Change: F1123S
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
| SMART Domains |
Protein: ENSMUSP00000081889
Gene: ENSMUSG00000042029
AA Change: F1123S
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
14 |
25 |
N/A |
INTRINSIC |
|
Pfam:Condensin2nSMC
|
212 |
361 |
7.2e-62 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000222761
|
| Meta Mutation Damage Score |
0.1123 |
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.3%
- 10x: 96.3%
- 20x: 92.7%
|
| Validation Efficiency |
100% (66/66) |
| 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: 62 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700003F12Rik |
T |
G |
2: 154,391,539 (GRCm39) |
V102G |
probably benign |
Het |
| Adgrv1 |
T |
C |
13: 81,620,699 (GRCm39) |
|
probably null |
Het |
| Ahnak |
T |
A |
19: 8,987,441 (GRCm39) |
D2908E |
probably damaging |
Het |
| Aox1 |
A |
G |
1: 58,143,610 (GRCm39) |
M1243V |
probably benign |
Het |
| Apobec2 |
T |
C |
17: 48,730,003 (GRCm39) |
D221G |
possibly damaging |
Het |
| Bcas1 |
T |
C |
2: 170,208,348 (GRCm39) |
D472G |
probably damaging |
Het |
| Btnl7-ps |
T |
A |
17: 34,760,437 (GRCm39) |
|
noncoding transcript |
Het |
| Cd209d |
G |
T |
8: 3,928,453 (GRCm39) |
Q11K |
possibly damaging |
Het |
| Cdc14a |
G |
A |
3: 116,087,646 (GRCm39) |
T455I |
possibly damaging |
Het |
| Cep120 |
A |
G |
18: 53,830,729 (GRCm39) |
S843P |
probably damaging |
Het |
| Cped1 |
A |
T |
6: 22,122,260 (GRCm39) |
H380L |
probably damaging |
Het |
| Derl2 |
A |
T |
11: 70,898,171 (GRCm39) |
W233R |
probably benign |
Het |
| Drd5 |
A |
T |
5: 38,478,065 (GRCm39) |
I353F |
probably damaging |
Het |
| E330034G19Rik |
A |
T |
14: 24,357,055 (GRCm39) |
Q197L |
possibly damaging |
Het |
| Edil3 |
T |
A |
13: 89,279,831 (GRCm39) |
S170T |
probably damaging |
Het |
| Gldc |
T |
A |
19: 30,096,038 (GRCm39) |
T658S |
probably damaging |
Het |
| Gpr146 |
A |
G |
5: 139,379,124 (GRCm39) |
M309V |
probably benign |
Het |
| H2bc18 |
A |
G |
3: 96,177,189 (GRCm39) |
Y41C |
probably damaging |
Het |
| Hexim2 |
T |
A |
11: 103,029,147 (GRCm39) |
C66* |
probably null |
Het |
| Htr2a |
T |
C |
14: 74,943,419 (GRCm39) |
V333A |
probably damaging |
Het |
| Igdcc4 |
A |
G |
9: 65,041,026 (GRCm39) |
E1065G |
probably damaging |
Het |
| Katnip |
T |
A |
7: 125,465,524 (GRCm39) |
D1325E |
probably damaging |
Het |
| Kcnk9 |
T |
A |
15: 72,384,083 (GRCm39) |
E365V |
possibly damaging |
Het |
| Kif28 |
T |
A |
1: 179,563,571 (GRCm39) |
N135I |
probably damaging |
Het |
| Kmt2a |
A |
T |
9: 44,729,700 (GRCm39) |
|
probably benign |
Het |
| Lamb2 |
A |
T |
9: 108,367,581 (GRCm39) |
I1788F |
probably damaging |
Het |
| Lsm6 |
G |
A |
8: 79,539,608 (GRCm39) |
R31* |
probably null |
Het |
| Mical3 |
T |
A |
6: 121,019,199 (GRCm39) |
T8S |
probably benign |
Het |
| Nprl2 |
A |
G |
9: 107,420,191 (GRCm39) |
D30G |
probably benign |
Het |
| Or51l4 |
C |
T |
7: 103,404,228 (GRCm39) |
R188H |
probably benign |
Het |
| Or5ac24 |
A |
T |
16: 59,165,856 (GRCm39) |
D69E |
probably damaging |
Het |
| Or8b51 |
A |
T |
9: 38,569,310 (GRCm39) |
I126N |
probably damaging |
Het |
| Parvg |
T |
A |
15: 84,214,359 (GRCm39) |
V181E |
probably damaging |
Het |
| Pfas |
T |
C |
11: 68,880,860 (GRCm39) |
T1106A |
probably benign |
Het |
| Plekhh1 |
A |
T |
12: 79,126,224 (GRCm39) |
T1310S |
probably damaging |
Het |
| Potegl |
A |
G |
2: 23,098,086 (GRCm39) |
Y88C |
probably damaging |
Het |
| Ptprj |
A |
G |
2: 90,301,631 (GRCm39) |
V74A |
possibly damaging |
Het |
| Rapgef2 |
A |
T |
3: 78,988,600 (GRCm39) |
|
probably benign |
Het |
| Rfx3 |
G |
T |
19: 27,745,913 (GRCm39) |
T731K |
probably benign |
Het |
| Rnf31 |
A |
T |
14: 55,836,439 (GRCm39) |
K634* |
probably null |
Het |
| Scp2 |
CACTTTAATAATACTTT |
CACTTT |
4: 107,944,209 (GRCm39) |
|
probably null |
Het |
| Set |
A |
G |
2: 29,959,106 (GRCm39) |
H101R |
probably damaging |
Het |
| Slc30a6 |
G |
T |
17: 74,715,857 (GRCm39) |
V106F |
probably damaging |
Het |
| Slc47a1 |
A |
T |
11: 61,250,344 (GRCm39) |
|
probably null |
Het |
| Spaca3 |
G |
A |
11: 80,753,983 (GRCm39) |
R40H |
probably damaging |
Het |
| Srpra |
G |
A |
9: 35,126,766 (GRCm39) |
R508H |
probably benign |
Het |
| Ston2 |
A |
T |
12: 91,608,454 (GRCm39) |
I882N |
probably benign |
Het |
| Tenm3 |
A |
G |
8: 48,740,857 (GRCm39) |
S1209P |
probably benign |
Het |
| Tmprss11g |
T |
C |
5: 86,647,470 (GRCm39) |
T23A |
probably benign |
Het |
| Topors |
A |
G |
4: 40,261,829 (GRCm39) |
V485A |
probably damaging |
Het |
| Tpgs1 |
T |
A |
10: 79,511,620 (GRCm39) |
L254Q |
probably damaging |
Het |
| Traf3 |
A |
C |
12: 111,227,194 (GRCm39) |
T336P |
probably benign |
Het |
| Ttn |
T |
A |
2: 76,710,934 (GRCm39) |
|
probably benign |
Het |
| Ubr5 |
G |
A |
15: 37,981,114 (GRCm39) |
R2388W |
probably damaging |
Het |
| Unc13a |
A |
G |
8: 72,110,910 (GRCm39) |
S434P |
probably benign |
Het |
| Usp33 |
A |
G |
3: 152,080,400 (GRCm39) |
I510M |
possibly damaging |
Het |
| Vmn1r65 |
C |
A |
7: 6,012,108 (GRCm39) |
G42V |
probably benign |
Het |
| Xab2 |
A |
G |
8: 3,666,031 (GRCm39) |
L262S |
possibly damaging |
Het |
| Yap1 |
A |
T |
9: 7,953,141 (GRCm39) |
|
probably benign |
Het |
| Zbtb14 |
C |
G |
17: 69,694,759 (GRCm39) |
I152M |
probably benign |
Het |
| Zfp609 |
A |
G |
9: 65,702,059 (GRCm39) |
Y198H |
possibly damaging |
Het |
| Zfp629 |
T |
A |
7: 127,211,033 (GRCm39) |
K259* |
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 |
|
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 |
|
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'- GGGTGCTGAGCCTGTTTACCTTTAC -3'
(R):5'- TGCCCATGCCACAGTTCCTACAAG -3'
Sequencing Primer
(F):5'- CGGCTGTGAAACTTGTGCTC -3'
(R):5'- CACCCAGTGTTTTTGACGGT -3'
|
| Posted On |
2014-04-13 |
Incidental Mutation