Incidental Mutation 'R9749:Ncapg2'
| ID |
732431 |
| 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 |
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R9749 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
12 |
| Chromosomal Location |
116368969-116427152 bp(+) (GRCm39) |
| Type of Mutation |
nonsense |
| DNA Base Change (assembly) |
C to A
at 116411368 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Stop codon
at position 1051
(S1051*)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000081889
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000084828]
|
| AlphaFold |
Q6DFV1 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000084828
AA Change: S1051*
|
| SMART Domains |
Protein: ENSMUSP00000081889
Gene: ENSMUSG00000042029
AA Change: S1051*
| 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: 99.9%
- 3x: 99.8%
- 10x: 99.3%
- 20x: 98.3%
|
| 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: 80 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4933427D14Rik |
T |
A |
11: 72,080,521 (GRCm39) |
I382F |
possibly damaging |
Het |
| Adamtsl3 |
A |
G |
7: 82,099,394 (GRCm39) |
S183G |
probably benign |
Het |
| Adamtsl4 |
T |
C |
3: 95,591,457 (GRCm39) |
H170R |
probably benign |
Het |
| Adcy2 |
T |
C |
13: 68,773,974 (GRCm39) |
D1023G |
probably damaging |
Het |
| Agrn |
C |
A |
4: 156,258,114 (GRCm39) |
V1083F |
probably benign |
Het |
| Arhgap21 |
T |
C |
2: 20,854,026 (GRCm39) |
T1789A |
probably benign |
Het |
| Atr |
T |
C |
9: 95,819,703 (GRCm39) |
|
probably null |
Het |
| Bcl2l13 |
T |
C |
6: 120,842,633 (GRCm39) |
S109P |
possibly damaging |
Het |
| Bik |
A |
T |
15: 83,425,540 (GRCm39) |
T14S |
possibly damaging |
Het |
| Car7 |
A |
G |
8: 105,275,054 (GRCm39) |
D164G |
probably damaging |
Het |
| Cat |
T |
A |
2: 103,285,445 (GRCm39) |
K499M |
probably benign |
Het |
| Ccar2 |
T |
A |
14: 70,388,728 (GRCm39) |
Q161L |
probably benign |
Het |
| Cd109 |
T |
G |
9: 78,592,166 (GRCm39) |
V760G |
probably damaging |
Het |
| Cep350 |
A |
T |
1: 155,828,985 (GRCm39) |
H246Q |
probably benign |
Het |
| Cfap91 |
A |
G |
16: 38,128,487 (GRCm39) |
I496T |
probably damaging |
Het |
| Chst13 |
T |
C |
6: 90,295,251 (GRCm39) |
D54G |
probably damaging |
Het |
| Cilk1 |
T |
A |
9: 78,060,999 (GRCm39) |
V215E |
probably damaging |
Het |
| Col4a4 |
A |
G |
1: 82,463,353 (GRCm39) |
S1046P |
unknown |
Het |
| Col6a5 |
T |
C |
9: 105,739,190 (GRCm39) |
Q2581R |
probably damaging |
Het |
| Cox5b-ps |
G |
A |
13: 21,685,515 (GRCm39) |
A25V |
probably benign |
Het |
| Csmd2 |
A |
T |
4: 128,389,921 (GRCm39) |
I2219F |
|
Het |
| Cux2 |
G |
A |
5: 122,007,780 (GRCm39) |
S627L |
possibly damaging |
Het |
| Cyp2a22 |
A |
T |
7: 26,638,715 (GRCm39) |
W24R |
probably null |
Het |
| Dhrs7c |
A |
T |
11: 67,702,479 (GRCm39) |
T156S |
probably damaging |
Het |
| Dnah9 |
A |
G |
11: 65,986,202 (GRCm39) |
V1144A |
probably damaging |
Het |
| Folh1 |
T |
C |
7: 86,368,908 (GRCm39) |
T740A |
probably damaging |
Het |
| Foxo4 |
G |
A |
X: 100,301,955 (GRCm39) |
S209N |
probably benign |
Het |
| Gm10300 |
A |
G |
4: 131,802,029 (GRCm39) |
T8A |
unknown |
Het |
| Gns |
T |
A |
10: 121,214,057 (GRCm39) |
I244N |
probably benign |
Het |
| Gsdmd |
A |
G |
15: 75,735,411 (GRCm39) |
K52E |
probably damaging |
Het |
| H1f0 |
A |
G |
15: 78,913,217 (GRCm39) |
D99G |
probably benign |
Het |
| Hapln4 |
T |
C |
8: 70,539,724 (GRCm39) |
Y252H |
probably damaging |
Het |
| Hmcn1 |
A |
C |
1: 150,632,339 (GRCm39) |
I866S |
possibly damaging |
Het |
| Hrnr |
C |
T |
3: 93,231,384 (GRCm39) |
R541C |
unknown |
Het |
| Igkv4-57-1 |
A |
G |
6: 69,521,408 (GRCm39) |
I98T |
probably damaging |
Het |
| Itih3 |
T |
A |
14: 30,641,279 (GRCm39) |
D253V |
probably damaging |
Het |
| Kansl1l |
T |
A |
1: 66,760,970 (GRCm39) |
E869D |
probably damaging |
Het |
| Kif13a |
T |
C |
13: 46,914,227 (GRCm39) |
Q502R |
probably damaging |
Het |
| Lama5 |
T |
A |
2: 179,825,433 (GRCm39) |
Q2447L |
probably benign |
Het |
| Lcn6 |
A |
T |
2: 25,570,034 (GRCm39) |
M1L |
probably benign |
Het |
| Lrrtm1 |
T |
C |
6: 77,220,855 (GRCm39) |
V104A |
probably damaging |
Het |
| Map3k13 |
T |
C |
16: 21,740,581 (GRCm39) |
L636P |
probably benign |
Het |
| Melk |
T |
A |
4: 44,307,067 (GRCm39) |
H74Q |
possibly damaging |
Het |
| Mixl1 |
A |
T |
1: 180,522,311 (GRCm39) |
M190K |
probably benign |
Het |
| Mttp |
A |
G |
3: 137,830,989 (GRCm39) |
S27P |
probably damaging |
Het |
| Myh6 |
T |
C |
14: 55,190,943 (GRCm39) |
I911V |
probably damaging |
Het |
| Ncapd3 |
T |
A |
9: 26,956,873 (GRCm39) |
I262N |
probably benign |
Het |
| Nckap1 |
G |
A |
2: 80,401,568 (GRCm39) |
Q39* |
probably null |
Het |
| Nemp1 |
A |
G |
10: 127,524,198 (GRCm39) |
D76G |
probably benign |
Het |
| Or12e10 |
A |
C |
2: 87,640,202 (GRCm39) |
K13Q |
probably benign |
Het |
| Or2a20 |
G |
A |
6: 43,194,258 (GRCm39) |
W137* |
probably null |
Het |
| Or2l13 |
A |
T |
16: 19,306,113 (GRCm39) |
H175L |
possibly damaging |
Het |
| Or4a2 |
T |
A |
2: 89,248,662 (GRCm39) |
I32F |
possibly damaging |
Het |
| Or8k36-ps1 |
T |
C |
2: 86,437,909 (GRCm39) |
E2G |
probably benign |
Het |
| Osbpl5 |
C |
A |
7: 143,249,308 (GRCm39) |
V578L |
probably benign |
Het |
| Peg10 |
CCACATCAGGATCCACATCAGGATGCACATCAGCATCAGGATCCCCATCAGGATGCACATCAGGATCCACATCAGGATGCACATCAG |
CCACATCAGGATCCACATCAGGATGCACATCAG |
6: 4,756,398 (GRCm39) |
|
probably benign |
Het |
| Rabl3 |
A |
G |
16: 37,377,190 (GRCm39) |
D49G |
possibly damaging |
Het |
| Rngtt |
A |
G |
4: 33,368,618 (GRCm39) |
I384V |
possibly damaging |
Het |
| Robo1 |
T |
C |
16: 72,105,257 (GRCm39) |
|
probably benign |
Het |
| Rtcb |
C |
A |
10: 85,785,453 (GRCm39) |
R125L |
probably damaging |
Het |
| Rtn4rl2 |
C |
A |
2: 84,702,954 (GRCm39) |
R206L |
probably damaging |
Het |
| Sbk2 |
A |
T |
7: 4,960,333 (GRCm39) |
I279N |
probably benign |
Het |
| Scaf1 |
A |
G |
7: 44,656,576 (GRCm39) |
S768P |
unknown |
Het |
| Slc6a9 |
A |
G |
4: 117,721,198 (GRCm39) |
H316R |
probably damaging |
Het |
| Son |
CATGGACTCCCAGATGTTAGCAACTAGCTCTATGGACTCCCAGATGTTAGCAACTAGCTCTATGGACTCCCAGATGTTAGCAACCAGCAGTATGGACTCCCAGATGTTAGCAACCAGCAGTATGGACTCCCAGATGTTAGCAACCAGCTCCATGGACTCCCAGATGTTAGCAAC |
CATGGACTCCCAGATGTTAGCAACTAGCTCTATGGACTCCCAGATGTTAGCAACCAGCAGTATGGACTCCCAGATGTTAGCAACCAGCAGTATGGACTCCCAGATGTTAGCAACCAGCTCCATGGACTCCCAGATGTTAGCAAC |
16: 91,453,579 (GRCm39) |
|
probably benign |
Het |
| Tas2r136 |
G |
T |
6: 132,755,106 (GRCm39) |
T7K |
probably damaging |
Het |
| Tbc1d9 |
T |
A |
8: 83,968,339 (GRCm39) |
|
probably null |
Het |
| Tekt2 |
C |
T |
4: 126,217,444 (GRCm39) |
R207H |
probably damaging |
Het |
| Tmem40 |
T |
C |
6: 115,719,306 (GRCm39) |
D53G |
probably benign |
Het |
| Tram1 |
A |
T |
1: 13,640,238 (GRCm39) |
V272D |
possibly damaging |
Het |
| Trpc4 |
G |
A |
3: 54,102,302 (GRCm39) |
D67N |
probably damaging |
Het |
| Ttc6 |
A |
T |
12: 57,701,559 (GRCm39) |
T591S |
probably benign |
Het |
| Ube2g1 |
A |
T |
11: 72,570,199 (GRCm39) |
E144V |
probably benign |
Het |
| Unc80 |
A |
G |
1: 66,544,179 (GRCm39) |
D434G |
probably damaging |
Het |
| Vmn1r168 |
C |
A |
7: 23,240,237 (GRCm39) |
N31K |
probably damaging |
Het |
| Vmn1r79 |
A |
T |
7: 11,910,450 (GRCm39) |
T111S |
probably damaging |
Het |
| Vmn2r118 |
C |
T |
17: 55,915,415 (GRCm39) |
|
probably null |
Het |
| Vps35l |
C |
A |
7: 118,352,107 (GRCm39) |
D195E |
probably benign |
Het |
| Yy1 |
A |
G |
12: 108,772,417 (GRCm39) |
D231G |
possibly damaging |
Het |
| Zfp748 |
A |
G |
13: 67,690,573 (GRCm39) |
V229A |
probably benign |
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 |
|
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 |
|
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'- GGAGAACTGGTTAAAGTGGCTC -3'
(R):5'- CCCTTCTACCAGAATTTAGTTGTG -3'
Sequencing Primer
(F):5'- TGGCTCAGCATAAAGTCTAAAGC -3'
(R):5'- AGGCACTGGGAACAGTTA -3'
|
| Posted On |
2022-11-14 |
Incidental Mutation