Incidental Mutation 'R1596:Ncapg2'
| ID |
175827 |
| 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 |
039633-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R1596 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
12 |
| Chromosomal Location |
116368969-116427152 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 116382856 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Histidine
at position 229
(L229H)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000081889
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000084828]
|
| AlphaFold |
Q6DFV1 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000084828
AA Change: L229H
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000081889
Gene: ENSMUSG00000042029
AA Change: L229H
| 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: ENSMUST00000220608
|
| Meta Mutation Damage Score |
0.7779 |
| Coding Region Coverage |
- 1x: 98.9%
- 3x: 97.9%
- 10x: 94.9%
- 20x: 87.7%
|
| 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: 56 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930447A16Rik |
A |
G |
15: 37,426,018 (GRCm39) |
|
probably benign |
Het |
| Abca8a |
T |
A |
11: 109,958,886 (GRCm39) |
Y745F |
possibly damaging |
Het |
| Abl1 |
A |
G |
2: 31,680,350 (GRCm39) |
N316S |
probably damaging |
Het |
| Ackr2 |
T |
C |
9: 121,738,278 (GRCm39) |
F218L |
probably damaging |
Het |
| Adam6b |
T |
A |
12: 113,454,646 (GRCm39) |
Y488N |
probably damaging |
Het |
| Arhgap10 |
A |
G |
8: 78,177,326 (GRCm39) |
I103T |
possibly damaging |
Het |
| Atm |
A |
G |
9: 53,364,678 (GRCm39) |
V2669A |
probably damaging |
Het |
| Atp10b |
A |
G |
11: 43,126,594 (GRCm39) |
K1117E |
probably damaging |
Het |
| Brinp3 |
T |
C |
1: 146,390,520 (GRCm39) |
V22A |
probably benign |
Het |
| Casp8 |
G |
T |
1: 58,870,833 (GRCm39) |
|
probably benign |
Het |
| Ccdc178 |
T |
A |
18: 22,153,930 (GRCm39) |
K626N |
possibly damaging |
Het |
| Clcn6 |
T |
A |
4: 148,107,836 (GRCm39) |
S193C |
probably damaging |
Het |
| Col11a1 |
C |
T |
3: 113,946,262 (GRCm39) |
|
probably benign |
Het |
| Csn1s2b |
T |
A |
5: 87,966,917 (GRCm39) |
|
probably benign |
Het |
| Cst5 |
T |
C |
2: 149,247,329 (GRCm39) |
V15A |
unknown |
Het |
| Cttnbp2 |
A |
G |
6: 18,408,591 (GRCm39) |
F1010S |
probably damaging |
Het |
| Dlg2 |
T |
C |
7: 92,080,259 (GRCm39) |
V614A |
probably damaging |
Het |
| Dsg1c |
A |
G |
18: 20,415,104 (GRCm39) |
Y667C |
probably damaging |
Het |
| Ep400 |
A |
T |
5: 110,856,727 (GRCm39) |
|
probably benign |
Het |
| Fam83c |
C |
T |
2: 155,672,982 (GRCm39) |
|
probably null |
Het |
| Fbxw20 |
C |
T |
9: 109,050,368 (GRCm39) |
C419Y |
probably damaging |
Het |
| Fgd2 |
G |
A |
17: 29,595,904 (GRCm39) |
V521I |
probably benign |
Het |
| Frrs1 |
A |
G |
3: 116,676,848 (GRCm39) |
|
probably benign |
Het |
| Gli3 |
C |
A |
13: 15,900,056 (GRCm39) |
Q1148K |
possibly damaging |
Het |
| Hdac5 |
G |
T |
11: 102,095,482 (GRCm39) |
|
probably null |
Het |
| Ice1 |
C |
T |
13: 70,753,014 (GRCm39) |
R1024H |
possibly damaging |
Het |
| Irak3 |
A |
T |
10: 120,018,451 (GRCm39) |
I99N |
probably damaging |
Het |
| Klhl31 |
A |
G |
9: 77,557,356 (GRCm39) |
D24G |
probably damaging |
Het |
| Lrba |
C |
T |
3: 86,257,611 (GRCm39) |
Q1292* |
probably null |
Het |
| Map1a |
C |
T |
2: 121,120,246 (GRCm39) |
A44V |
probably benign |
Het |
| Mbd2 |
T |
A |
18: 70,749,703 (GRCm39) |
M306K |
probably damaging |
Het |
| Mrc1 |
C |
T |
2: 14,253,701 (GRCm39) |
H241Y |
possibly damaging |
Het |
| Mrgprg |
A |
G |
7: 143,318,431 (GRCm39) |
F227S |
possibly damaging |
Het |
| Ncf4 |
G |
A |
15: 78,134,637 (GRCm39) |
E30K |
probably damaging |
Het |
| Nlrp4c |
C |
A |
7: 6,069,777 (GRCm39) |
D559E |
probably benign |
Het |
| Nxpe4 |
T |
A |
9: 48,307,855 (GRCm39) |
W320R |
probably damaging |
Het |
| Or10a3n |
T |
A |
7: 108,493,086 (GRCm39) |
H176L |
probably damaging |
Het |
| Or52n4b |
T |
A |
7: 108,144,290 (GRCm39) |
M184K |
possibly damaging |
Het |
| Or6z5 |
T |
C |
7: 6,477,514 (GRCm39) |
L135P |
probably damaging |
Het |
| Pdzrn3 |
A |
G |
6: 101,127,966 (GRCm39) |
V900A |
probably benign |
Het |
| Prcp |
T |
C |
7: 92,567,042 (GRCm39) |
|
probably benign |
Het |
| Prkaa2 |
A |
T |
4: 104,893,526 (GRCm39) |
D474E |
probably damaging |
Het |
| Prl3a1 |
A |
G |
13: 27,443,600 (GRCm39) |
|
probably benign |
Het |
| Ptpra |
T |
A |
2: 130,386,872 (GRCm39) |
Y624N |
probably damaging |
Het |
| Ramp1 |
T |
C |
1: 91,151,022 (GRCm39) |
V129A |
possibly damaging |
Het |
| Reep1 |
G |
T |
6: 71,733,421 (GRCm39) |
|
probably null |
Het |
| Robo3 |
C |
T |
9: 37,335,928 (GRCm39) |
|
probably null |
Het |
| Sapcd2 |
T |
A |
2: 25,266,422 (GRCm39) |
I403N |
probably damaging |
Het |
| Sdk2 |
T |
A |
11: 113,729,435 (GRCm39) |
|
probably benign |
Het |
| Serpinb3a |
T |
C |
1: 106,974,904 (GRCm39) |
M210V |
probably benign |
Het |
| Slc45a3 |
T |
A |
1: 131,909,267 (GRCm39) |
I488N |
probably damaging |
Het |
| Tnrc6c |
C |
T |
11: 117,648,867 (GRCm39) |
P1513S |
probably damaging |
Het |
| Trank1 |
T |
A |
9: 111,195,358 (GRCm39) |
H1127Q |
possibly damaging |
Het |
| Trim67 |
T |
C |
8: 125,552,878 (GRCm39) |
V660A |
probably damaging |
Het |
| Ubash3b |
A |
G |
9: 40,942,793 (GRCm39) |
I233T |
probably benign |
Het |
| Unkl |
A |
G |
17: 25,424,707 (GRCm39) |
R245G |
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 |
|
|
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'- CACTGTAGCACTTCCCAGTTCAACC -3'
(R):5'- TGGAGATCAACCTGGGCAGCAAAC -3'
Sequencing Primer
(F):5'- CAAGTGATACTGACTTGGGCTTC -3'
(R):5'- acacatatacatatacgcacacac -3'
|
| Posted On |
2014-04-24 |
Incidental Mutation