Incidental Mutation 'R7339:Ncapg2'
| ID |
569724 |
| 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 |
045429-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R7339 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
12 |
| Chromosomal Location |
116368969-116427152 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 116378454 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Glycine
at position 160
(E160G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000081889
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000084828]
[ENSMUST00000221114]
[ENSMUST00000221970]
[ENSMUST00000222469]
|
| AlphaFold |
Q6DFV1 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000084828
AA Change: E160G
PolyPhen 2
Score 0.960 (Sensitivity: 0.78; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000081889
Gene: ENSMUSG00000042029
AA Change: E160G
| 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
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.7%
- 20x: 99.1%
|
| Validation Efficiency |
100% (61/61) |
| 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: 63 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2900026A02Rik |
T |
C |
5: 113,330,938 (GRCm39) |
D1092G |
probably benign |
Het |
| Abcb11 |
C |
T |
2: 69,130,211 (GRCm39) |
D282N |
probably damaging |
Het |
| Ahnak |
A |
T |
19: 8,985,529 (GRCm39) |
N2271I |
possibly damaging |
Het |
| Amz1 |
A |
G |
5: 140,727,306 (GRCm39) |
S90G |
probably benign |
Het |
| Arhgap5 |
A |
G |
12: 52,564,481 (GRCm39) |
E484G |
possibly damaging |
Het |
| Arid3c |
A |
G |
4: 41,729,883 (GRCm39) |
|
probably null |
Het |
| Atp1a1 |
T |
C |
3: 101,497,188 (GRCm39) |
I373V |
probably benign |
Het |
| Barhl1 |
T |
C |
2: 28,799,899 (GRCm39) |
E242G |
probably damaging |
Het |
| Bltp2 |
G |
A |
11: 78,163,210 (GRCm39) |
|
probably null |
Het |
| Cactin |
CCGGAGTCGGAGTCGGAGTCGGAGTCGGAGTCGGAG |
CCGGAGTCGGAGTCGGAGTCGGAGTCGGAGTCGGAGTCGGAG |
10: 81,157,152 (GRCm39) |
|
probably benign |
Het |
| Casz1 |
T |
A |
4: 149,036,202 (GRCm39) |
V1488E |
probably damaging |
Het |
| Ccdc175 |
C |
A |
12: 72,182,815 (GRCm39) |
Q401H |
probably damaging |
Het |
| Cfap36 |
T |
C |
11: 29,175,925 (GRCm39) |
Y191C |
probably benign |
Het |
| Chmp2b |
G |
A |
16: 65,342,232 (GRCm39) |
Q119* |
probably null |
Het |
| Cps1 |
T |
A |
1: 67,236,174 (GRCm39) |
I969N |
possibly damaging |
Het |
| Dennd5a |
A |
G |
7: 109,500,366 (GRCm39) |
F920L |
probably damaging |
Het |
| Dnah12 |
A |
T |
14: 26,594,277 (GRCm39) |
T3410S |
probably benign |
Het |
| Fbxo42 |
T |
G |
4: 140,927,455 (GRCm39) |
S578R |
possibly damaging |
Het |
| Fcgr1 |
C |
T |
3: 96,191,615 (GRCm39) |
G398R |
not run |
Het |
| Foxa3 |
A |
T |
7: 18,748,794 (GRCm39) |
Y111N |
probably damaging |
Het |
| Gabbr2 |
T |
C |
4: 46,846,340 (GRCm39) |
K190E |
probably benign |
Het |
| Gbp10 |
T |
C |
5: 105,367,964 (GRCm39) |
Y403C |
possibly damaging |
Het |
| Hsd3b5 |
A |
G |
3: 98,529,390 (GRCm39) |
I80T |
probably damaging |
Het |
| Kri1 |
T |
G |
9: 21,197,883 (GRCm39) |
Q89P |
|
Het |
| Lrp6 |
G |
T |
6: 134,427,781 (GRCm39) |
P1604T |
probably damaging |
Het |
| Metap1 |
T |
C |
3: 138,171,898 (GRCm39) |
|
probably null |
Het |
| Mkrn3 |
C |
T |
7: 62,069,530 (GRCm39) |
R87H |
probably benign |
Het |
| Ms4a6d |
G |
A |
19: 11,567,437 (GRCm39) |
Q155* |
probably null |
Het |
| Myh6 |
T |
C |
14: 55,199,025 (GRCm39) |
|
probably null |
Het |
| Naip6 |
G |
T |
13: 100,452,527 (GRCm39) |
P178Q |
probably damaging |
Het |
| Nek6 |
G |
A |
2: 38,450,977 (GRCm39) |
A127T |
probably damaging |
Het |
| Nell1 |
T |
C |
7: 49,929,297 (GRCm39) |
V264A |
probably benign |
Het |
| Nlrp2 |
T |
A |
7: 5,330,627 (GRCm39) |
I590F |
possibly damaging |
Het |
| Or13j1 |
C |
T |
4: 43,706,080 (GRCm39) |
A163T |
probably benign |
Het |
| Or2y17 |
G |
A |
11: 49,231,875 (GRCm39) |
R172Q |
not run |
Het |
| Or4f57 |
A |
T |
2: 111,790,956 (GRCm39) |
M154K |
probably benign |
Het |
| Or4f6 |
A |
G |
2: 111,838,820 (GRCm39) |
L237P |
probably damaging |
Het |
| Or52n4b |
A |
C |
7: 108,144,107 (GRCm39) |
D125A |
probably damaging |
Het |
| Otop3 |
T |
A |
11: 115,237,204 (GRCm39) |
L556Q |
probably damaging |
Het |
| Padi1 |
T |
C |
4: 140,556,545 (GRCm39) |
D190G |
probably null |
Het |
| Pald1 |
T |
C |
10: 61,159,110 (GRCm39) |
S774G |
possibly damaging |
Het |
| Pde10a |
C |
T |
17: 8,975,860 (GRCm39) |
T55I |
probably benign |
Het |
| Pla2g4d |
T |
C |
2: 120,109,459 (GRCm39) |
M197V |
probably benign |
Het |
| Prom1 |
C |
A |
5: 44,258,995 (GRCm39) |
|
probably benign |
Het |
| Ptdss1 |
A |
G |
13: 67,111,426 (GRCm39) |
H164R |
possibly damaging |
Het |
| Rrh |
A |
T |
3: 129,604,262 (GRCm39) |
I313N |
probably damaging |
Het |
| Slc35b4 |
A |
G |
6: 34,144,591 (GRCm39) |
I88T |
probably damaging |
Het |
| Slc38a11 |
C |
T |
2: 65,156,914 (GRCm39) |
V353I |
probably benign |
Het |
| Spata31e3 |
A |
T |
13: 50,401,204 (GRCm39) |
I374N |
possibly damaging |
Het |
| Spdef |
T |
A |
17: 27,939,219 (GRCm39) |
E42D |
probably benign |
Het |
| Tgoln1 |
G |
C |
6: 72,593,261 (GRCm39) |
T73R |
probably benign |
Het |
| Tmx1 |
A |
G |
12: 70,505,624 (GRCm39) |
D129G |
probably benign |
Het |
| Trav13n-4 |
A |
T |
14: 53,601,435 (GRCm39) |
Y68F |
probably benign |
Het |
| Trp53 |
T |
C |
11: 69,480,015 (GRCm39) |
S238P |
probably damaging |
Het |
| Trp53bp1 |
T |
C |
2: 121,066,950 (GRCm39) |
D592G |
probably benign |
Het |
| Ttll5 |
T |
C |
12: 85,904,238 (GRCm39) |
|
probably null |
Het |
| Urb1 |
CACTTAC |
CAC |
16: 90,569,461 (GRCm39) |
|
probably benign |
Het |
| Vmn2r43 |
A |
T |
7: 8,258,306 (GRCm39) |
Y302* |
probably null |
Het |
| Vps13d |
C |
T |
4: 144,847,938 (GRCm39) |
V2478I |
|
Het |
| Vps35l |
A |
T |
7: 118,409,194 (GRCm39) |
I612F |
probably damaging |
Het |
| Wsb1 |
A |
G |
11: 79,131,184 (GRCm39) |
V404A |
probably damaging |
Het |
| Zfc3h1 |
A |
G |
10: 115,239,205 (GRCm39) |
D539G |
probably damaging |
Het |
| Zfp318 |
T |
C |
17: 46,722,173 (GRCm39) |
V1392A |
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 |
|
|
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'- TTGCCTAGCTAGGTCTTGTATAAGTC -3'
(R):5'- CTTGGACCTCTACACATCACTG -3'
Sequencing Primer
(F):5'- CTGGGGATTAAACTCAGGATCTC -3'
(R):5'- TCACTGTAAGAAACACCTAGGCTGG -3'
|
| Posted On |
2019-09-13 |
Incidental Mutation