Incidental Mutation 'R8739:Ncapg2'
| ID |
663240 |
| 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 |
068586-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R8739 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
12 |
| Chromosomal Location |
116368969-116427152 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to G
at 116379098 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glutamic Acid
at position 197
(D197E)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000081889
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000084828]
[ENSMUST00000221114]
[ENSMUST00000221970]
[ENSMUST00000222469]
|
| AlphaFold |
Q6DFV1 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000084828
AA Change: D197E
PolyPhen 2
Score 0.755 (Sensitivity: 0.85; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000081889
Gene: ENSMUSG00000042029
AA Change: D197E
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
14 |
25 |
N/A |
INTRINSIC |
|
Pfam:Condensin2nSMC
|
212 |
361 |
7.2e-62 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000221114
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000221970
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000222469
|
| Meta Mutation Damage Score |
0.2554 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.9%
- 20x: 99.6%
|
| Validation Efficiency |
100% (59/59) |
| 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: 60 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adam24 |
T |
C |
8: 41,133,480 (GRCm39) |
V316A |
possibly damaging |
Het |
| Adamts9 |
T |
C |
6: 92,831,261 (GRCm39) |
E1364G |
probably benign |
Het |
| Agrn |
C |
T |
4: 156,257,045 (GRCm39) |
R1233Q |
probably benign |
Het |
| Ankrd6 |
A |
G |
4: 32,806,337 (GRCm39) |
S639P |
possibly damaging |
Het |
| Arid5a |
A |
G |
1: 36,358,677 (GRCm39) |
N418S |
probably benign |
Het |
| Cep152 |
T |
C |
2: 125,461,975 (GRCm39) |
E69G |
probably benign |
Het |
| Chrnb2 |
A |
G |
3: 89,669,746 (GRCm39) |
S109P |
probably damaging |
Het |
| Chuk |
A |
G |
19: 44,077,135 (GRCm39) |
S404P |
probably benign |
Het |
| Clec4a3 |
T |
C |
6: 122,944,508 (GRCm39) |
Y185H |
probably damaging |
Het |
| Dctd |
T |
A |
8: 48,591,883 (GRCm39) |
L149H |
probably benign |
Het |
| Dgkb |
T |
A |
12: 38,278,323 (GRCm39) |
|
probably benign |
Het |
| Dhrs13 |
G |
C |
11: 77,923,492 (GRCm39) |
R70P |
possibly damaging |
Het |
| Dnah5 |
G |
A |
15: 28,346,006 (GRCm39) |
A2449T |
probably benign |
Het |
| Dync1h1 |
T |
C |
12: 110,581,014 (GRCm39) |
V247A |
probably damaging |
Het |
| Eef1ece2 |
G |
A |
16: 20,449,665 (GRCm39) |
|
probably benign |
Het |
| Espnl |
T |
A |
1: 91,272,317 (GRCm39) |
L559Q |
probably damaging |
Het |
| Gak |
A |
G |
5: 108,739,604 (GRCm39) |
V627A |
possibly damaging |
Het |
| Gcnt1 |
A |
T |
19: 17,307,437 (GRCm39) |
M96K |
probably benign |
Het |
| Ggta1 |
T |
C |
2: 35,292,572 (GRCm39) |
D245G |
probably damaging |
Het |
| Hfm1 |
A |
T |
5: 107,046,371 (GRCm39) |
F505Y |
probably damaging |
Het |
| Inpp4a |
A |
G |
1: 37,422,207 (GRCm39) |
|
probably benign |
Het |
| Kcnj14 |
C |
G |
7: 45,468,812 (GRCm39) |
R231P |
probably damaging |
Het |
| Lamc2 |
A |
T |
1: 153,020,399 (GRCm39) |
C382* |
probably null |
Het |
| Marveld3 |
T |
C |
8: 110,688,609 (GRCm39) |
E44G |
possibly damaging |
Het |
| Mettl17 |
T |
C |
14: 52,128,848 (GRCm39) |
F373L |
possibly damaging |
Het |
| Morc3 |
T |
A |
16: 93,657,398 (GRCm39) |
L374Q |
probably damaging |
Het |
| Muc16 |
C |
T |
9: 18,548,594 (GRCm39) |
D5900N |
probably benign |
Het |
| Myo15a |
A |
G |
11: 60,368,088 (GRCm39) |
N283D |
probably benign |
Het |
| Nipbl |
T |
C |
15: 8,332,904 (GRCm39) |
T2240A |
probably benign |
Het |
| Nrip1 |
A |
C |
16: 76,088,236 (GRCm39) |
V1107G |
possibly damaging |
Het |
| Or13a19 |
T |
C |
7: 139,902,647 (GRCm39) |
F12L |
probably damaging |
Het |
| Or4d5 |
G |
A |
9: 40,012,636 (GRCm39) |
T50I |
probably benign |
Het |
| Or4f52 |
C |
A |
2: 111,061,834 (GRCm39) |
M101I |
probably benign |
Het |
| Pcdhb11 |
T |
A |
18: 37,555,549 (GRCm39) |
I293K |
probably damaging |
Het |
| Pcsk5 |
G |
T |
19: 17,432,138 (GRCm39) |
H1492Q |
probably benign |
Het |
| Pdcd4 |
T |
A |
19: 53,899,405 (GRCm39) |
Y131* |
probably null |
Het |
| Pdf |
T |
A |
8: 107,773,796 (GRCm39) |
M216L |
probably damaging |
Het |
| Pira13 |
A |
T |
7: 3,828,188 (GRCm39) |
S40T |
|
Het |
| Plch1 |
T |
C |
3: 63,778,106 (GRCm39) |
H17R |
possibly damaging |
Het |
| Prkdc |
T |
G |
16: 15,626,068 (GRCm39) |
S3365A |
probably benign |
Het |
| Rab3c |
T |
C |
13: 110,397,135 (GRCm39) |
T44A |
probably damaging |
Het |
| Rad17 |
T |
C |
13: 100,765,998 (GRCm39) |
T377A |
probably benign |
Het |
| Rftn1 |
G |
T |
17: 50,354,408 (GRCm39) |
A318D |
probably damaging |
Het |
| Rnf215 |
T |
G |
11: 4,085,959 (GRCm39) |
|
probably null |
Het |
| Sec31b |
G |
A |
19: 44,507,620 (GRCm39) |
T808I |
probably benign |
Het |
| Selenbp1 |
A |
T |
3: 94,844,601 (GRCm39) |
D86V |
probably damaging |
Het |
| Smurf2 |
G |
T |
11: 106,743,322 (GRCm39) |
Y241* |
probably null |
Het |
| Spint1 |
T |
C |
2: 119,079,286 (GRCm39) |
V456A |
possibly damaging |
Het |
| Spmap2 |
G |
T |
10: 79,419,581 (GRCm39) |
N240K |
possibly damaging |
Het |
| Stx5a |
A |
T |
19: 8,725,924 (GRCm39) |
I175F |
probably damaging |
Het |
| Tenm4 |
C |
T |
7: 96,555,148 (GRCm39) |
P2618S |
probably benign |
Het |
| Tfb1m |
T |
C |
17: 3,569,927 (GRCm39) |
E313G |
probably benign |
Het |
| Thrb |
A |
G |
14: 17,963,082 (GRCm38) |
D15G |
probably benign |
Het |
| Tln2 |
T |
C |
9: 67,165,555 (GRCm39) |
K1045R |
probably damaging |
Het |
| Tmx2 |
T |
C |
2: 84,505,745 (GRCm39) |
|
probably benign |
Het |
| Trabd |
T |
C |
15: 88,969,152 (GRCm39) |
I192T |
probably damaging |
Het |
| Try5 |
T |
A |
6: 41,288,637 (GRCm39) |
D194V |
probably damaging |
Het |
| Ttc21a |
A |
G |
9: 119,796,371 (GRCm39) |
N1263S |
probably benign |
Het |
| Ttll13 |
T |
C |
7: 79,902,923 (GRCm39) |
I197T |
probably damaging |
Het |
| Virma |
T |
C |
4: 11,540,643 (GRCm39) |
|
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 |
|
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 |
|
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'- TCCTGGATAAAAGGCAGGCATG -3'
(R):5'- GCCACATGAATTTAAGGAAAGCATC -3'
Sequencing Primer
(F):5'- AAGGCAGGCATGATTTAGAATTC -3'
(R):5'- GGATATGCAGCTGCTTCCAACTG -3'
|
| Posted On |
2021-03-08 |
Incidental Mutation