Incidental Mutation 'R5135:Ncapg2'
ID |
396155 |
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 |
043261-MU
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R5135 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
12 |
Chromosomal Location |
116368969-116427152 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to A
at 116391406 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Isoleucine to Asparagine
at position 485
(I485N)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000081889
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000084828]
|
AlphaFold |
Q6DFV1 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000084828
AA Change: I485N
PolyPhen 2
Score 0.637 (Sensitivity: 0.87; Specificity: 0.91)
|
SMART Domains |
Protein: ENSMUSP00000081889 Gene: ENSMUSG00000042029 AA Change: I485N
Domain | Start | End | E-Value | Type |
low complexity region
|
14 |
25 |
N/A |
INTRINSIC |
Pfam:Condensin2nSMC
|
212 |
361 |
7.2e-62 |
PFAM |
|
Meta Mutation Damage Score |
0.4548 |
Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.3%
- 20x: 95.1%
|
Validation Efficiency |
98% (82/84) |
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 |
1700056E22Rik |
T |
C |
1: 183,765,703 (GRCm39) |
S119G |
probably benign |
Het |
4930553M12Rik |
G |
T |
4: 88,786,508 (GRCm39) |
H37N |
unknown |
Het |
Adam10 |
T |
A |
9: 70,673,356 (GRCm39) |
C496S |
probably damaging |
Het |
Aldh18a1 |
A |
C |
19: 40,543,261 (GRCm39) |
|
probably benign |
Het |
Alox5 |
A |
G |
6: 116,390,747 (GRCm39) |
F468S |
probably benign |
Het |
Ankrd50 |
T |
C |
3: 38,509,952 (GRCm39) |
H805R |
probably damaging |
Het |
Ap2s1 |
T |
A |
7: 16,481,248 (GRCm39) |
D72E |
probably damaging |
Het |
Apaf1 |
T |
C |
10: 90,895,956 (GRCm39) |
Y372C |
probably damaging |
Het |
Apob |
C |
T |
12: 8,060,086 (GRCm39) |
T2823I |
probably damaging |
Het |
Bhmt |
A |
G |
13: 93,763,831 (GRCm39) |
V70A |
probably damaging |
Het |
Bltp3b |
T |
C |
10: 89,625,217 (GRCm39) |
I48T |
probably damaging |
Het |
Cdc42bpg |
T |
A |
19: 6,370,648 (GRCm39) |
L1247H |
probably damaging |
Het |
Cel |
A |
G |
2: 28,449,435 (GRCm39) |
V264A |
probably benign |
Het |
Celsr2 |
T |
C |
3: 108,305,975 (GRCm39) |
N2043S |
probably damaging |
Het |
Clca4a |
A |
T |
3: 144,660,707 (GRCm39) |
W706R |
probably damaging |
Het |
Col22a1 |
G |
T |
15: 71,671,186 (GRCm39) |
P1058Q |
unknown |
Het |
Cyp4a14 |
A |
G |
4: 115,347,157 (GRCm39) |
|
probably null |
Het |
Dhx30 |
T |
G |
9: 109,927,863 (GRCm39) |
R55S |
probably damaging |
Het |
Dlgap5 |
C |
T |
14: 47,637,122 (GRCm39) |
R452H |
probably damaging |
Het |
Dnah12 |
T |
A |
14: 26,492,434 (GRCm39) |
D1191E |
probably damaging |
Het |
Dock3 |
A |
T |
9: 106,810,196 (GRCm39) |
I164N |
probably damaging |
Het |
Edrf1 |
T |
A |
7: 133,252,773 (GRCm39) |
M436K |
probably benign |
Het |
Eif2ak2 |
T |
A |
17: 79,173,774 (GRCm39) |
Y268F |
probably damaging |
Het |
Evi2a |
G |
A |
11: 79,418,277 (GRCm39) |
T111M |
possibly damaging |
Het |
Fzd4 |
A |
G |
7: 89,056,709 (GRCm39) |
E252G |
probably damaging |
Het |
Gcm2 |
A |
G |
13: 41,256,435 (GRCm39) |
V438A |
probably benign |
Het |
Gm10722 |
T |
C |
9: 3,000,937 (GRCm39) |
C6R |
probably benign |
Het |
Gm4787 |
G |
C |
12: 81,424,604 (GRCm39) |
T518S |
probably benign |
Het |
Gm4846 |
T |
C |
1: 166,311,551 (GRCm39) |
D436G |
probably damaging |
Het |
Gm5414 |
T |
A |
15: 101,536,203 (GRCm39) |
I141F |
probably damaging |
Het |
Gm6185 |
T |
A |
1: 161,025,801 (GRCm39) |
|
noncoding transcript |
Het |
Grip2 |
T |
C |
6: 91,750,897 (GRCm39) |
E776G |
possibly damaging |
Het |
H2-Ob |
T |
A |
17: 34,462,490 (GRCm39) |
V160E |
probably benign |
Het |
Hormad1 |
T |
C |
3: 95,492,531 (GRCm39) |
|
probably benign |
Het |
Ighv2-1 |
A |
T |
12: 113,538,082 (GRCm39) |
|
probably benign |
Het |
Igkv4-92 |
A |
T |
6: 68,732,538 (GRCm39) |
C14S |
probably benign |
Het |
Iqsec3 |
T |
C |
6: 121,360,878 (GRCm39) |
I993M |
probably damaging |
Het |
Kdm5b |
T |
A |
1: 134,516,484 (GRCm39) |
|
probably benign |
Het |
Kitl |
T |
C |
10: 99,924,084 (GRCm39) |
|
probably null |
Het |
Klhl26 |
G |
T |
8: 70,905,368 (GRCm39) |
R100S |
probably benign |
Het |
Kpna4 |
C |
T |
3: 69,000,142 (GRCm39) |
|
probably null |
Het |
Lama5 |
T |
A |
2: 179,844,013 (GRCm39) |
N383Y |
possibly damaging |
Het |
Large1 |
T |
G |
8: 73,544,724 (GRCm39) |
I685L |
probably benign |
Het |
Larp4b |
A |
G |
13: 9,220,773 (GRCm39) |
E590G |
probably damaging |
Het |
Liph |
A |
T |
16: 21,774,915 (GRCm39) |
C425* |
probably null |
Het |
Lrrc31 |
A |
T |
3: 30,739,039 (GRCm39) |
C327* |
probably null |
Het |
Lrrc36 |
T |
C |
8: 106,190,530 (GRCm39) |
V733A |
probably benign |
Het |
Mmel1 |
T |
A |
4: 154,966,781 (GRCm39) |
I83K |
probably benign |
Het |
Myo16 |
G |
T |
8: 10,526,114 (GRCm39) |
V885L |
probably benign |
Het |
Naip2 |
A |
T |
13: 100,315,948 (GRCm39) |
N277K |
probably damaging |
Het |
Npc1l1 |
A |
T |
11: 6,174,245 (GRCm39) |
Y687N |
possibly damaging |
Het |
Obscn |
A |
T |
11: 59,020,479 (GRCm39) |
V922E |
probably damaging |
Het |
Oc90 |
A |
G |
15: 65,755,679 (GRCm39) |
S223P |
probably benign |
Het |
Or1e16 |
AGCGGTCGTAGGC |
AGC |
11: 73,286,480 (GRCm39) |
|
probably null |
Het |
Or4a80 |
A |
T |
2: 89,582,239 (GRCm39) |
L311H |
possibly damaging |
Het |
Or4e1 |
T |
C |
14: 52,701,311 (GRCm39) |
I52V |
probably benign |
Het |
Pakap |
G |
T |
4: 57,855,912 (GRCm39) |
A414S |
probably benign |
Het |
Pdlim5 |
C |
T |
3: 142,010,126 (GRCm39) |
R174H |
probably benign |
Het |
Pex5l |
G |
T |
3: 33,009,980 (GRCm39) |
A386E |
probably damaging |
Het |
Plcxd1 |
T |
A |
5: 110,249,229 (GRCm39) |
|
probably benign |
Het |
Pramel12 |
T |
G |
4: 143,145,579 (GRCm39) |
S349R |
probably benign |
Het |
Prl8a1 |
A |
T |
13: 27,763,802 (GRCm39) |
|
probably null |
Het |
Ryr2 |
G |
T |
13: 11,677,016 (GRCm39) |
N3278K |
probably benign |
Het |
Sacm1l |
A |
G |
9: 123,406,090 (GRCm39) |
M324V |
probably benign |
Het |
Sdad1 |
T |
C |
5: 92,451,793 (GRCm39) |
T143A |
probably benign |
Het |
Sec11a |
A |
T |
7: 80,572,812 (GRCm39) |
|
probably benign |
Het |
Sema6a |
A |
G |
18: 47,424,239 (GRCm39) |
V223A |
probably damaging |
Het |
Serpinb6c |
A |
G |
13: 34,064,080 (GRCm39) |
V325A |
probably damaging |
Het |
Slc4a2 |
G |
A |
5: 24,635,125 (GRCm39) |
A177T |
possibly damaging |
Het |
Slc5a4a |
A |
G |
10: 75,983,428 (GRCm39) |
N22D |
unknown |
Het |
Stard13 |
C |
T |
5: 150,986,232 (GRCm39) |
W308* |
probably null |
Het |
Tanc2 |
C |
T |
11: 105,748,379 (GRCm39) |
L504F |
possibly damaging |
Het |
Tfap2e |
G |
T |
4: 126,614,337 (GRCm39) |
N282K |
probably damaging |
Het |
Usp36 |
G |
T |
11: 118,155,731 (GRCm39) |
T682K |
possibly damaging |
Het |
Zc3h11a |
T |
C |
1: 133,561,527 (GRCm39) |
T315A |
probably benign |
Het |
Zfa-ps |
T |
A |
10: 52,419,118 (GRCm39) |
|
noncoding transcript |
Het |
Zfp1002 |
A |
T |
2: 150,097,410 (GRCm39) |
Y34* |
probably null |
Het |
Zfp663 |
A |
T |
2: 165,195,590 (GRCm39) |
C210S |
possibly damaging |
Het |
Zfp747 |
T |
C |
7: 126,973,566 (GRCm39) |
I201M |
probably damaging |
Het |
Zic4 |
C |
T |
9: 91,266,205 (GRCm39) |
T276M |
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 |
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 |
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'- TCTTAGATGCTTCCTACCTAAATGTT -3'
(R):5'- ACACACATTATTTCTAGAACCTTTCCT -3'
Sequencing Primer
(F):5'- TGCTTCCTACCTAAATGTTTTATTGG -3'
(R):5'- ACCTTTCCTTAGAAACATAAAACCAC -3'
|
Posted On |
2016-06-21 |