Incidental Mutation 'R8324:Ncapg'
| ID |
643976 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ncapg
|
| Ensembl Gene |
ENSMUSG00000015880 |
| Gene Name |
non-SMC condensin I complex, subunit G |
| Synonyms |
MFT.M05.13, Hcapg, 5730507H05Rik |
| MMRRC Submission |
067725-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.952)
|
| Stock # |
R8324 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
5 |
| Chromosomal Location |
45827261-45857888 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to G
at 45853010 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Histidine to Glutamine
at position 825
(H825Q)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000112871
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000045586]
[ENSMUST00000117396]
[ENSMUST00000121573]
[ENSMUST00000190036]
|
| AlphaFold |
E9PWG6 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000045586
|
| SMART Domains |
Protein: ENSMUSP00000042677
Gene: ENSMUSG00000015882
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
234 |
253 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000117396
AA Change: H825Q
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000112871
Gene: ENSMUSG00000015880
AA Change: H825Q
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Cnd3
|
557 |
863 |
7.4e-87 |
PFAM |
|
low complexity region
|
864 |
874 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000121573
|
| SMART Domains |
Protein: ENSMUSP00000112416
Gene: ENSMUSG00000015882
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
151 |
170 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000190036
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.6%
- 20x: 98.6%
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a subunit of the condensin complex, which is responsible for the condensation and stabilization of chromosomes during mitosis and meiosis. Phosphorylation of the encoded protein activates the condensin complex. There are pseudogenes for this gene on chromosomes 8 and 15. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2012]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 70 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca13 |
T |
C |
11: 9,240,395 (GRCm39) |
S753P |
probably damaging |
Het |
| Acan |
A |
G |
7: 78,740,804 (GRCm39) |
E390G |
probably damaging |
Het |
| Antxr2 |
T |
C |
5: 98,086,368 (GRCm39) |
N413S |
probably damaging |
Het |
| Bace2 |
C |
T |
16: 97,158,108 (GRCm39) |
A36V |
possibly damaging |
Het |
| Caprin1 |
G |
A |
2: 103,613,526 (GRCm39) |
R79* |
probably null |
Het |
| Cdan1 |
A |
G |
2: 120,557,806 (GRCm39) |
V507A |
probably benign |
Het |
| Cdkl3 |
T |
A |
11: 51,913,706 (GRCm39) |
|
probably null |
Het |
| Chst5 |
A |
T |
8: 112,617,140 (GRCm39) |
L160Q |
probably benign |
Het |
| Col11a1 |
C |
G |
3: 113,958,059 (GRCm39) |
P1111R |
probably damaging |
Het |
| Col6a6 |
T |
A |
9: 105,632,853 (GRCm39) |
E1470D |
probably benign |
Het |
| Cpped1 |
T |
A |
16: 11,623,340 (GRCm39) |
T274S |
probably benign |
Het |
| Ctnnbl1 |
G |
A |
2: 157,621,735 (GRCm39) |
E75K |
probably damaging |
Het |
| Cyp4f40 |
T |
C |
17: 32,878,502 (GRCm39) |
S15P |
probably benign |
Het |
| Ddx46 |
T |
C |
13: 55,811,727 (GRCm39) |
S643P |
probably damaging |
Het |
| Defb34 |
A |
G |
8: 19,173,814 (GRCm39) |
Q16R |
probably null |
Het |
| Dhrs2 |
T |
A |
14: 55,476,221 (GRCm39) |
V147E |
probably damaging |
Het |
| Dnah5 |
G |
T |
15: 28,347,011 (GRCm39) |
R2498L |
probably damaging |
Het |
| Dpp10 |
T |
A |
1: 123,781,901 (GRCm39) |
I93F |
probably benign |
Het |
| Eef1e1 |
T |
A |
13: 38,839,045 (GRCm39) |
D104V |
probably damaging |
Het |
| Egfr |
A |
G |
11: 16,808,971 (GRCm39) |
Y55C |
probably damaging |
Het |
| Egfr |
A |
C |
11: 16,858,885 (GRCm39) |
I955L |
probably damaging |
Het |
| Ehbp1l1 |
C |
A |
19: 5,770,026 (GRCm39) |
V426F |
possibly damaging |
Het |
| Elp1 |
C |
T |
4: 56,772,491 (GRCm39) |
E877K |
probably damaging |
Het |
| Fam234a |
C |
T |
17: 26,437,672 (GRCm39) |
V108I |
probably benign |
Het |
| Fzd8 |
T |
A |
18: 9,214,688 (GRCm39) |
M590K |
probably damaging |
Het |
| Gm13287 |
T |
C |
4: 88,721,875 (GRCm39) |
S129P |
probably damaging |
Het |
| Heatr5b |
A |
G |
17: 79,062,793 (GRCm39) |
S1919P |
possibly damaging |
Het |
| Hspg2 |
C |
G |
4: 137,246,290 (GRCm39) |
P1023A |
possibly damaging |
Het |
| Itpr2 |
T |
C |
6: 146,229,896 (GRCm39) |
E1233G |
probably damaging |
Het |
| Kcnmb4 |
A |
G |
10: 116,254,219 (GRCm39) |
L186P |
probably damaging |
Het |
| Krt72 |
T |
A |
15: 101,690,580 (GRCm39) |
Y224F |
probably damaging |
Het |
| Loxhd1 |
T |
C |
18: 77,427,275 (GRCm39) |
|
probably null |
Het |
| Lrguk |
A |
G |
6: 34,079,506 (GRCm39) |
T914A |
probably benign |
Het |
| Lrrtm4 |
A |
G |
6: 79,998,974 (GRCm39) |
T129A |
probably damaging |
Het |
| Mmp13 |
A |
T |
9: 7,276,636 (GRCm39) |
I244F |
possibly damaging |
Het |
| Mob1a |
T |
A |
6: 83,306,956 (GRCm39) |
L41Q |
probably damaging |
Het |
| Mtcl1 |
T |
C |
17: 66,743,212 (GRCm39) |
R426G |
probably damaging |
Het |
| Mybbp1a |
T |
C |
11: 72,336,114 (GRCm39) |
|
probably null |
Het |
| Myh9 |
A |
G |
15: 77,673,117 (GRCm39) |
|
probably null |
Het |
| Myo1d |
T |
A |
11: 80,448,347 (GRCm39) |
D926V |
probably damaging |
Het |
| Olfml1 |
T |
C |
7: 107,189,570 (GRCm39) |
S212P |
probably benign |
Het |
| Or52p1 |
G |
A |
7: 104,267,321 (GRCm39) |
R145H |
probably benign |
Het |
| Pak2 |
T |
C |
16: 31,871,029 (GRCm39) |
N51S |
probably benign |
Het |
| Papln |
T |
C |
12: 83,833,393 (GRCm39) |
Y1132H |
probably damaging |
Het |
| Pax3 |
T |
A |
1: 78,170,426 (GRCm39) |
R134S |
probably damaging |
Het |
| Pdzrn4 |
A |
G |
15: 92,668,818 (GRCm39) |
E990G |
probably damaging |
Het |
| Peak1 |
A |
T |
9: 56,114,760 (GRCm39) |
W1394R |
probably damaging |
Het |
| Pkn2 |
T |
C |
3: 142,534,771 (GRCm39) |
N285D |
probably benign |
Het |
| Pramel13 |
A |
C |
4: 144,122,427 (GRCm39) |
L39R |
probably damaging |
Het |
| Prrc2a |
A |
G |
17: 35,375,960 (GRCm39) |
S897P |
possibly damaging |
Het |
| Rad51 |
A |
G |
2: 118,954,312 (GRCm39) |
T131A |
possibly damaging |
Het |
| Rc3h2 |
T |
A |
2: 37,290,738 (GRCm39) |
T255S |
possibly damaging |
Het |
| Repin1 |
G |
T |
6: 48,574,279 (GRCm39) |
E403* |
probably null |
Het |
| Rictor |
T |
A |
15: 6,775,043 (GRCm39) |
V125E |
probably damaging |
Het |
| Rps6ka5 |
C |
T |
12: 100,524,746 (GRCm39) |
D664N |
possibly damaging |
Het |
| Rreb1 |
T |
A |
13: 38,131,597 (GRCm39) |
W1584R |
probably damaging |
Het |
| Rxra |
T |
C |
2: 27,631,195 (GRCm39) |
I142T |
probably damaging |
Het |
| Sall2 |
T |
C |
14: 52,550,343 (GRCm39) |
T951A |
probably benign |
Het |
| Slc15a2 |
T |
G |
16: 36,579,669 (GRCm39) |
N359T |
probably damaging |
Het |
| Slc23a1 |
C |
T |
18: 35,755,588 (GRCm39) |
G436E |
probably damaging |
Het |
| Slc6a13 |
T |
C |
6: 121,314,373 (GRCm39) |
*603Q |
probably null |
Het |
| Sptb |
T |
C |
12: 76,665,936 (GRCm39) |
D894G |
possibly damaging |
Het |
| Srgn |
A |
G |
10: 62,343,444 (GRCm39) |
L17P |
probably damaging |
Het |
| Tmprss9 |
T |
C |
10: 80,733,205 (GRCm39) |
|
probably null |
Het |
| Trav9n-4 |
T |
C |
14: 53,532,403 (GRCm39) |
F86L |
probably benign |
Het |
| Trp63 |
A |
G |
16: 25,695,484 (GRCm39) |
Y482C |
unknown |
Het |
| Ttc9b |
G |
T |
7: 27,353,394 (GRCm39) |
A15S |
probably damaging |
Het |
| Urb1 |
A |
T |
16: 90,588,078 (GRCm39) |
I410N |
probably damaging |
Het |
| Vmn2r82 |
A |
T |
10: 79,214,727 (GRCm39) |
K237* |
probably null |
Het |
| Wwox |
G |
A |
8: 115,215,745 (GRCm39) |
|
probably null |
Het |
|
| Other mutations in Ncapg |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00662:Ncapg
|
APN |
5 |
45,850,502 (GRCm39) |
missense |
possibly damaging |
0.53 |
|
IGL00777:Ncapg
|
APN |
5 |
45,853,107 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
IGL00857:Ncapg
|
APN |
5 |
45,833,927 (GRCm39) |
splice site |
probably null |
|
|
IGL00916:Ncapg
|
APN |
5 |
45,828,534 (GRCm39) |
missense |
probably benign |
0.37 |
|
IGL01293:Ncapg
|
APN |
5 |
45,839,196 (GRCm39) |
missense |
probably benign |
0.01 |
|
IGL01360:Ncapg
|
APN |
5 |
45,831,727 (GRCm39) |
nonsense |
probably null |
|
|
IGL01462:Ncapg
|
APN |
5 |
45,828,477 (GRCm39) |
missense |
probably benign |
0.02 |
|
IGL01527:Ncapg
|
APN |
5 |
45,829,726 (GRCm39) |
missense |
possibly damaging |
0.71 |
|
IGL01732:Ncapg
|
APN |
5 |
45,851,195 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01788:Ncapg
|
APN |
5 |
45,828,423 (GRCm39) |
missense |
probably damaging |
0.97 |
|
IGL01871:Ncapg
|
APN |
5 |
45,845,923 (GRCm39) |
missense |
probably benign |
0.09 |
|
IGL03106:Ncapg
|
APN |
5 |
45,853,010 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03124:Ncapg
|
APN |
5 |
45,828,551 (GRCm39) |
missense |
probably benign |
|
|
R0086:Ncapg
|
UTSW |
5 |
45,834,086 (GRCm39) |
splice site |
probably null |
|
|
R0109:Ncapg
|
UTSW |
5 |
45,851,090 (GRCm39) |
splice site |
probably null |
|
|
R0110:Ncapg
|
UTSW |
5 |
45,850,489 (GRCm39) |
unclassified |
probably benign |
|
|
R0377:Ncapg
|
UTSW |
5 |
45,851,159 (GRCm39) |
missense |
probably benign |
|
|
R0432:Ncapg
|
UTSW |
5 |
45,829,770 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R0637:Ncapg
|
UTSW |
5 |
45,844,666 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0835:Ncapg
|
UTSW |
5 |
45,838,790 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R0894:Ncapg
|
UTSW |
5 |
45,837,236 (GRCm39) |
missense |
probably null |
0.24 |
|
R1069:Ncapg
|
UTSW |
5 |
45,833,272 (GRCm39) |
intron |
probably benign |
|
|
R1216:Ncapg
|
UTSW |
5 |
45,857,261 (GRCm39) |
missense |
possibly damaging |
0.68 |
|
R1967:Ncapg
|
UTSW |
5 |
45,857,252 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R2396:Ncapg
|
UTSW |
5 |
45,835,715 (GRCm39) |
missense |
probably benign |
0.00 |
|
R3157:Ncapg
|
UTSW |
5 |
45,833,400 (GRCm39) |
missense |
probably benign |
|
|
R3735:Ncapg
|
UTSW |
5 |
45,853,469 (GRCm39) |
missense |
probably benign |
0.00 |
|
R3736:Ncapg
|
UTSW |
5 |
45,853,469 (GRCm39) |
missense |
probably benign |
0.00 |
|
R3887:Ncapg
|
UTSW |
5 |
45,831,705 (GRCm39) |
missense |
probably benign |
|
|
R4371:Ncapg
|
UTSW |
5 |
45,835,797 (GRCm39) |
missense |
probably benign |
|
|
R4545:Ncapg
|
UTSW |
5 |
45,828,554 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4546:Ncapg
|
UTSW |
5 |
45,828,554 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4558:Ncapg
|
UTSW |
5 |
45,833,986 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4615:Ncapg
|
UTSW |
5 |
45,844,741 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4938:Ncapg
|
UTSW |
5 |
45,828,551 (GRCm39) |
missense |
probably benign |
|
|
R5839:Ncapg
|
UTSW |
5 |
45,829,620 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5871:Ncapg
|
UTSW |
5 |
45,853,039 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6086:Ncapg
|
UTSW |
5 |
45,850,578 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6418:Ncapg
|
UTSW |
5 |
45,839,158 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6617:Ncapg
|
UTSW |
5 |
45,827,474 (GRCm39) |
missense |
probably benign |
0.03 |
|
R7145:Ncapg
|
UTSW |
5 |
45,827,372 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
R7408:Ncapg
|
UTSW |
5 |
45,853,135 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7443:Ncapg
|
UTSW |
5 |
45,829,652 (GRCm39) |
missense |
probably benign |
0.31 |
|
R7463:Ncapg
|
UTSW |
5 |
45,851,434 (GRCm39) |
splice site |
probably null |
|
|
R7509:Ncapg
|
UTSW |
5 |
45,853,450 (GRCm39) |
missense |
probably benign |
0.01 |
|
R7687:Ncapg
|
UTSW |
5 |
45,857,227 (GRCm39) |
missense |
probably benign |
0.03 |
|
R7919:Ncapg
|
UTSW |
5 |
45,853,390 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8022:Ncapg
|
UTSW |
5 |
45,839,136 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8177:Ncapg
|
UTSW |
5 |
45,851,095 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8261:Ncapg
|
UTSW |
5 |
45,844,730 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R8263:Ncapg
|
UTSW |
5 |
45,849,134 (GRCm39) |
missense |
probably benign |
0.44 |
|
R8333:Ncapg
|
UTSW |
5 |
45,831,805 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R8742:Ncapg
|
UTSW |
5 |
45,851,216 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9026:Ncapg
|
UTSW |
5 |
45,853,115 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9051:Ncapg
|
UTSW |
5 |
45,853,140 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9076:Ncapg
|
UTSW |
5 |
45,833,983 (GRCm39) |
missense |
probably benign |
|
|
R9122:Ncapg
|
UTSW |
5 |
45,846,015 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R9751:Ncapg
|
UTSW |
5 |
45,851,195 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9776:Ncapg
|
UTSW |
5 |
45,829,834 (GRCm39) |
missense |
probably damaging |
0.96 |
|
RF019:Ncapg
|
UTSW |
5 |
45,856,198 (GRCm39) |
missense |
probably benign |
0.00 |
|
Z1088:Ncapg
|
UTSW |
5 |
45,837,222 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Z1177:Ncapg
|
UTSW |
5 |
45,829,844 (GRCm39) |
critical splice donor site |
probably null |
|
|
| Predicted Primers |
PCR Primer
(F):5'- TCAGTCGTAAAAGGGCAGACC -3'
(R):5'- CCTATCTGTTACATGCTGGGG -3'
Sequencing Primer
(F):5'- CCTGCTCCTTGTAATAAAGAGAGG -3'
(R):5'- GGGAAATGGAAAGTAAGTCATCTTTC -3'
|
| Posted On |
2020-09-02 |
Incidental Mutation