Incidental Mutation 'R7704:Ncapg2'
| ID |
594203 |
| 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 |
045765-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R7704 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
12 |
| Chromosomal Location |
116368969-116427152 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 116382897 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Phenylalanine
at position 243
(I243F)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000081889
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000084828]
|
| AlphaFold |
Q6DFV1 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000084828
AA Change: I243F
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000081889
Gene: ENSMUSG00000042029
AA Change: I243F
| 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: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 98.9%
|
| 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: 49 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcc8 |
C |
A |
7: 45,756,068 (GRCm39) |
W1458L |
probably damaging |
Het |
| Actn4 |
A |
T |
7: 28,596,467 (GRCm39) |
I676N |
possibly damaging |
Het |
| Adamts10 |
T |
C |
17: 33,770,126 (GRCm39) |
C1002R |
probably damaging |
Het |
| Agbl2 |
A |
C |
2: 90,619,349 (GRCm39) |
N58T |
probably benign |
Het |
| Akap12 |
A |
T |
10: 4,306,082 (GRCm39) |
D1069V |
probably damaging |
Het |
| Bltp2 |
C |
A |
11: 78,159,570 (GRCm39) |
Q540K |
probably benign |
Het |
| Cfap65 |
T |
A |
1: 74,967,527 (GRCm39) |
T184S |
probably benign |
Het |
| Chd1 |
T |
C |
17: 15,987,737 (GRCm39) |
V1517A |
probably benign |
Het |
| CN725425 |
T |
A |
15: 91,119,993 (GRCm39) |
V38D |
possibly damaging |
Het |
| Copg1 |
T |
A |
6: 87,884,940 (GRCm39) |
L712Q |
probably benign |
Het |
| Ctsf |
T |
G |
19: 4,906,567 (GRCm39) |
F165V |
probably damaging |
Het |
| Ddx21 |
T |
C |
10: 62,429,865 (GRCm39) |
Y293C |
probably damaging |
Het |
| Ddx46 |
C |
T |
13: 55,821,832 (GRCm39) |
P839S |
probably benign |
Het |
| Dennd5a |
A |
G |
7: 109,496,174 (GRCm39) |
V1164A |
possibly damaging |
Het |
| Dync1h1 |
T |
A |
12: 110,632,200 (GRCm39) |
I4490N |
probably damaging |
Het |
| Ecm1 |
A |
C |
3: 95,643,843 (GRCm39) |
Y236D |
probably damaging |
Het |
| Fat2 |
T |
C |
11: 55,175,173 (GRCm39) |
T1847A |
probably benign |
Het |
| Galc |
T |
A |
12: 98,175,102 (GRCm39) |
I567L |
probably benign |
Het |
| Gask1a |
C |
T |
9: 121,780,151 (GRCm39) |
|
probably benign |
Het |
| H6pd |
T |
C |
4: 150,067,360 (GRCm39) |
D350G |
probably benign |
Het |
| Ifi44 |
A |
G |
3: 151,438,061 (GRCm39) |
Y409H |
probably benign |
Het |
| Kdm5a |
T |
G |
6: 120,404,025 (GRCm39) |
F1210C |
probably damaging |
Het |
| Kdm5b |
C |
T |
1: 134,515,669 (GRCm39) |
R98C |
probably damaging |
Het |
| Lipt1 |
T |
A |
1: 37,915,043 (GRCm39) |
C366* |
probably null |
Het |
| Med13 |
G |
A |
11: 86,236,744 (GRCm39) |
R138* |
probably null |
Het |
| Mterf1a |
A |
G |
5: 3,941,845 (GRCm39) |
C8R |
probably benign |
Het |
| Nop58 |
T |
C |
1: 59,744,754 (GRCm39) |
S304P |
probably damaging |
Het |
| Nsd2 |
T |
C |
5: 34,028,811 (GRCm39) |
*167Q |
probably null |
Het |
| Or1e30 |
T |
G |
11: 73,678,616 (GRCm39) |
M284R |
probably damaging |
Het |
| Or2t35 |
T |
A |
14: 14,407,867 (GRCm38) |
I213N |
probably damaging |
Het |
| Or52ab2 |
T |
A |
7: 102,969,978 (GRCm39) |
M120K |
|
Het |
| Pramel29 |
C |
T |
4: 143,935,091 (GRCm39) |
V217I |
possibly damaging |
Het |
| Prdm16 |
C |
T |
4: 154,425,947 (GRCm39) |
G613R |
probably damaging |
Het |
| Prss46 |
T |
C |
9: 110,679,065 (GRCm39) |
S89P |
probably damaging |
Het |
| Scin |
T |
C |
12: 40,174,687 (GRCm39) |
N132S |
possibly damaging |
Het |
| Sec14l2 |
T |
C |
11: 4,058,574 (GRCm39) |
K196R |
probably benign |
Het |
| Sox17 |
C |
A |
1: 4,563,895 (GRCm39) |
|
probably benign |
Het |
| Tango6 |
A |
G |
8: 107,425,621 (GRCm39) |
T394A |
probably benign |
Het |
| Tbc1d22a |
T |
A |
15: 86,250,876 (GRCm39) |
I398N |
probably damaging |
Het |
| Tdpoz8 |
A |
G |
3: 92,981,752 (GRCm39) |
I183V |
probably benign |
Het |
| Tmem8b |
T |
C |
4: 43,689,461 (GRCm39) |
V285A |
probably damaging |
Het |
| Tnfrsf11b |
T |
A |
15: 54,123,497 (GRCm39) |
T35S |
probably benign |
Het |
| Unc13c |
T |
A |
9: 73,606,494 (GRCm39) |
I1289F |
probably benign |
Het |
| Ust |
C |
T |
10: 8,205,987 (GRCm39) |
V99I |
probably benign |
Het |
| Vmn1r76 |
A |
G |
7: 11,664,344 (GRCm39) |
V290A |
probably benign |
Het |
| Vmn2r50 |
T |
C |
7: 9,781,665 (GRCm39) |
N360S |
probably benign |
Het |
| Vmn2r93 |
T |
C |
17: 18,536,910 (GRCm39) |
I531T |
probably benign |
Het |
| Zap70 |
T |
C |
1: 36,818,395 (GRCm39) |
|
probably null |
Het |
| Zfp932 |
A |
G |
5: 110,157,630 (GRCm39) |
N443D |
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 |
|
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'- AGTGATACTGACTTGGGCTTC -3'
(R):5'- GATCAACCTGGGCAGCAAAC -3'
Sequencing Primer
(F):5'- ACTAAATGATGTTTGTGTGGCCAAGC -3'
(R):5'- ACTGCTGTGTAGTGACAGGCC -3'
|
| Posted On |
2019-11-12 |
Incidental Mutation