Incidental Mutation 'R8132:Ncapg2'
ID |
632084 |
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 |
067895-MU
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R8132 (G1)
|
Quality Score |
194.009 |
Status
|
Not validated
|
Chromosome |
12 |
Chromosomal Location |
116368969-116427152 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to A
at 116407967 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Isoleucine to Asparagine
at position 989
(I989N)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000081889
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000084828]
|
AlphaFold |
Q6DFV1 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000084828
AA Change: I989N
PolyPhen 2
Score 0.928 (Sensitivity: 0.81; Specificity: 0.94)
|
SMART Domains |
Protein: ENSMUSP00000081889 Gene: ENSMUSG00000042029 AA Change: I989N
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: 99.8%
- 3x: 99.6%
- 10x: 98.6%
- 20x: 94.2%
|
Validation Efficiency |
|
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: 50 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abcb10 |
C |
T |
8: 124,691,757 (GRCm39) |
A403T |
|
Het |
Abhd16b |
G |
A |
2: 181,135,760 (GRCm39) |
A221T |
probably damaging |
Het |
Arhgef1 |
C |
T |
7: 24,607,087 (GRCm39) |
|
probably benign |
Het |
Arhgef1 |
C |
T |
7: 24,619,174 (GRCm39) |
Q472* |
probably null |
Het |
Calr3 |
C |
T |
8: 73,181,023 (GRCm39) |
G298S |
probably damaging |
Het |
Chrng |
A |
G |
1: 87,133,718 (GRCm39) |
T15A |
unknown |
Het |
CK137956 |
T |
A |
4: 127,845,075 (GRCm39) |
K223* |
probably null |
Het |
Clca3b |
A |
T |
3: 144,552,935 (GRCm39) |
S97T |
probably benign |
Het |
Cops7b |
G |
T |
1: 86,514,916 (GRCm39) |
G102V |
probably damaging |
Het |
Dennd1a |
T |
A |
2: 37,748,072 (GRCm39) |
S382C |
probably damaging |
Het |
Fdps |
G |
A |
3: 89,006,693 (GRCm39) |
Q66* |
probably null |
Het |
Gemin4 |
T |
C |
11: 76,103,739 (GRCm39) |
T341A |
probably benign |
Het |
Grk3 |
A |
G |
5: 113,109,355 (GRCm39) |
S201P |
unknown |
Het |
Hgf |
C |
T |
5: 16,807,329 (GRCm39) |
T407I |
probably damaging |
Het |
Hip1r |
C |
T |
5: 124,135,290 (GRCm39) |
R446C |
probably damaging |
Het |
Hyal6 |
A |
T |
6: 24,740,827 (GRCm39) |
I327L |
possibly damaging |
Het |
Ifna15 |
T |
C |
4: 88,475,920 (GRCm39) |
E188G |
possibly damaging |
Het |
Igip |
A |
G |
18: 36,434,266 (GRCm39) |
S11G |
probably benign |
Het |
Igkv5-39 |
A |
G |
6: 69,877,589 (GRCm39) |
Y56H |
probably damaging |
Het |
Jph1 |
G |
A |
1: 17,086,379 (GRCm39) |
T381I |
probably damaging |
Het |
Lrrc55 |
T |
C |
2: 85,022,259 (GRCm39) |
I311V |
probably benign |
Het |
Mrps35 |
T |
A |
6: 146,949,661 (GRCm39) |
D58E |
probably benign |
Het |
Ms4a4d |
C |
A |
19: 11,535,310 (GRCm39) |
P203T |
probably benign |
Het |
Naip1 |
T |
G |
13: 100,573,883 (GRCm39) |
E225D |
possibly damaging |
Het |
Nek3 |
A |
T |
8: 22,647,036 (GRCm39) |
Y166* |
probably null |
Het |
Nphs1 |
A |
G |
7: 30,181,478 (GRCm39) |
E1169G |
probably benign |
Het |
Nudt15 |
G |
A |
14: 73,759,099 (GRCm39) |
P123L |
probably benign |
Het |
Or10c1 |
T |
A |
17: 37,522,207 (GRCm39) |
E179V |
probably damaging |
Het |
Or10q1b |
G |
A |
19: 13,682,584 (GRCm39) |
C131Y |
probably damaging |
Het |
Or5ac22 |
T |
C |
16: 59,134,907 (GRCm39) |
I288V |
possibly damaging |
Het |
Or6k14 |
T |
A |
1: 173,927,737 (GRCm39) |
S238T |
probably damaging |
Het |
Or8a1b |
C |
T |
9: 37,623,369 (GRCm39) |
V69M |
probably benign |
Het |
Pcdha5 |
T |
C |
18: 37,093,694 (GRCm39) |
S68P |
possibly damaging |
Het |
Plec |
G |
T |
15: 76,074,773 (GRCm39) |
A330E |
unknown |
Het |
Rpa3 |
A |
C |
6: 8,256,790 (GRCm39) |
I63S |
probably damaging |
Het |
Rsf1 |
CG |
CGACGGCGGGG |
7: 97,229,115 (GRCm39) |
|
probably benign |
Het |
Snap25 |
A |
T |
2: 136,611,748 (GRCm39) |
K83N |
probably benign |
Het |
Sos1 |
T |
G |
17: 80,716,031 (GRCm39) |
Q977P |
probably damaging |
Het |
Spag16 |
A |
G |
1: 70,420,461 (GRCm39) |
Y483C |
probably damaging |
Het |
Speg |
A |
G |
1: 75,399,639 (GRCm39) |
E2362G |
probably damaging |
Het |
Swap70 |
A |
G |
7: 109,855,084 (GRCm39) |
D128G |
probably damaging |
Het |
Syngap1 |
G |
A |
17: 27,177,154 (GRCm39) |
M545I |
probably damaging |
Het |
Tdpoz6 |
G |
A |
3: 93,599,452 (GRCm39) |
Q306* |
probably null |
Het |
Tmem147 |
T |
C |
7: 30,427,872 (GRCm39) |
E110G |
probably damaging |
Het |
Tmem156 |
T |
A |
5: 65,233,098 (GRCm39) |
I155F |
probably benign |
Het |
Trim25 |
C |
A |
11: 88,907,432 (GRCm39) |
A597E |
probably damaging |
Het |
Ttc7b |
T |
C |
12: 100,413,131 (GRCm39) |
Y229C |
probably damaging |
Het |
Utrn |
T |
A |
10: 12,558,154 (GRCm39) |
Q1435L |
probably damaging |
Het |
Zbtb41 |
T |
C |
1: 139,350,955 (GRCm39) |
S23P |
probably benign |
Het |
Zeb2 |
T |
A |
2: 44,879,142 (GRCm39) |
I1075F |
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 |
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 |
|
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'- TATCCTGCCTGAGCTGATGG -3'
(R):5'- GATGGCATCCTCAGCACATG -3'
Sequencing Primer
(F):5'- TTGGCCTGGAACTCACAATG -3'
(R):5'- AGCCAACCAGCTGAATGG -3'
|
Posted On |
2020-06-30 |