Incidental Mutation 'R6418:Ncapg'
| ID |
518060 |
| 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 |
044560-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.955)
|
| Stock # |
R6418 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
5 |
| Chromosomal Location |
45827261-45857888 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 45839158 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Phenylalanine
at position 519
(L519F)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000112871
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000117396]
|
| AlphaFold |
E9PWG6 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000117396
AA Change: L519F
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000112871
Gene: ENSMUSG00000015880
AA Change: L519F
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Cnd3
|
557 |
863 |
7.4e-87 |
PFAM |
|
low complexity region
|
864 |
874 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000129562
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000134309
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000198274
|
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 98.0%
- 20x: 93.8%
|
| Validation Efficiency |
99% (67/68) |
| 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: 65 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930507D05Rik |
C |
T |
10: 62,285,441 (GRCm39) |
A55V |
unknown |
Het |
| Adra1b |
T |
G |
11: 43,667,028 (GRCm39) |
D403A |
probably benign |
Het |
| Ankdd1b |
A |
T |
13: 96,597,405 (GRCm39) |
L9Q |
probably damaging |
Het |
| Ankrd17 |
A |
T |
5: 90,426,204 (GRCm39) |
S789R |
possibly damaging |
Het |
| B3galnt1 |
A |
G |
3: 69,482,326 (GRCm39) |
S312P |
probably damaging |
Het |
| C4bp |
C |
T |
1: 130,583,750 (GRCm39) |
V73M |
probably damaging |
Het |
| Ccdc121rt2 |
T |
C |
5: 112,598,019 (GRCm39) |
S189P |
probably benign |
Het |
| Cenpe |
T |
A |
3: 134,957,305 (GRCm39) |
N1854K |
probably damaging |
Het |
| Chrm2 |
A |
C |
6: 36,500,674 (GRCm39) |
Y177S |
probably damaging |
Het |
| Clca4b |
C |
T |
3: 144,633,996 (GRCm39) |
V140I |
probably benign |
Het |
| Csad |
A |
G |
15: 102,087,958 (GRCm39) |
S322P |
probably damaging |
Het |
| Depdc1b |
T |
G |
13: 108,493,956 (GRCm39) |
Y115D |
probably damaging |
Het |
| Dnah17 |
T |
C |
11: 118,020,023 (GRCm39) |
Y8C |
probably damaging |
Het |
| Dsg3 |
T |
C |
18: 20,656,817 (GRCm39) |
|
probably null |
Het |
| Elf5 |
A |
G |
2: 103,269,697 (GRCm39) |
T93A |
possibly damaging |
Het |
| Eogt |
C |
T |
6: 97,122,353 (GRCm39) |
D27N |
possibly damaging |
Het |
| Fam118b |
T |
C |
9: 35,146,633 (GRCm39) |
D78G |
probably damaging |
Het |
| Fhip2a |
T |
A |
19: 57,370,166 (GRCm39) |
M470K |
probably benign |
Het |
| Frem3 |
A |
G |
8: 81,337,781 (GRCm39) |
T25A |
probably benign |
Het |
| Gab1 |
C |
A |
8: 81,515,226 (GRCm39) |
R364L |
possibly damaging |
Het |
| Golm1 |
T |
C |
13: 59,813,375 (GRCm39) |
Y32C |
probably damaging |
Het |
| Has1 |
A |
T |
17: 18,070,207 (GRCm39) |
V238E |
probably damaging |
Het |
| Hkdc1 |
T |
C |
10: 62,219,583 (GRCm39) |
R907G |
possibly damaging |
Het |
| Igkv4-61 |
C |
A |
6: 69,394,138 (GRCm39) |
A31S |
possibly damaging |
Het |
| Krtap24-1 |
C |
T |
16: 88,408,761 (GRCm39) |
V122I |
probably damaging |
Het |
| Lrrc10 |
T |
G |
10: 116,881,616 (GRCm39) |
L97V |
probably damaging |
Het |
| Map3k20 |
T |
A |
2: 72,232,457 (GRCm39) |
M371K |
probably benign |
Het |
| Mis18bp1 |
A |
T |
12: 65,205,317 (GRCm39) |
M2K |
possibly damaging |
Het |
| Mob3b |
T |
A |
4: 34,954,049 (GRCm39) |
|
probably null |
Het |
| Muc4 |
A |
G |
16: 32,570,607 (GRCm39) |
T556A |
possibly damaging |
Het |
| Muc6 |
A |
C |
7: 141,224,032 (GRCm39) |
|
probably benign |
Het |
| Nfix |
A |
G |
8: 85,453,778 (GRCm39) |
S265P |
probably benign |
Het |
| Or13p10 |
T |
A |
4: 118,522,808 (GRCm39) |
F31L |
possibly damaging |
Het |
| Or4c121 |
T |
C |
2: 89,023,823 (GRCm39) |
K185R |
probably damaging |
Het |
| Or4k49 |
T |
C |
2: 111,494,817 (GRCm39) |
V82A |
probably benign |
Het |
| Or52e5 |
T |
C |
7: 104,719,514 (GRCm39) |
L280P |
probably damaging |
Het |
| Or8g35 |
C |
A |
9: 39,381,112 (GRCm39) |
K303N |
probably benign |
Het |
| Osgin2 |
T |
C |
4: 16,006,410 (GRCm39) |
T95A |
probably benign |
Het |
| Parp4 |
T |
C |
14: 56,858,108 (GRCm39) |
|
probably null |
Het |
| Pcdh7 |
G |
A |
5: 57,879,046 (GRCm39) |
G867D |
probably damaging |
Het |
| Pcdhb22 |
T |
C |
18: 37,652,959 (GRCm39) |
S476P |
possibly damaging |
Het |
| Phldb1 |
A |
G |
9: 44,623,197 (GRCm39) |
I619T |
probably damaging |
Het |
| Ppp1r13l |
C |
T |
7: 19,105,256 (GRCm39) |
R343C |
probably damaging |
Het |
| Rab2b |
T |
A |
14: 52,506,164 (GRCm39) |
|
probably benign |
Het |
| Rims2 |
A |
T |
15: 39,373,092 (GRCm39) |
E972V |
probably damaging |
Het |
| Slc26a9 |
G |
T |
1: 131,686,228 (GRCm39) |
C337F |
probably benign |
Het |
| Spty2d1 |
A |
G |
7: 46,647,751 (GRCm39) |
S393P |
probably damaging |
Het |
| Stkld1 |
A |
T |
2: 26,831,093 (GRCm39) |
N90I |
possibly damaging |
Het |
| Svep1 |
T |
A |
4: 58,053,126 (GRCm39) |
R3406S |
probably benign |
Het |
| Svil |
A |
T |
18: 5,040,171 (GRCm39) |
D48V |
probably benign |
Het |
| Thsd7a |
T |
A |
6: 12,555,081 (GRCm39) |
K268* |
probably null |
Het |
| Tmc6 |
A |
G |
11: 117,661,326 (GRCm39) |
L618P |
probably damaging |
Het |
| Tmem231 |
G |
A |
8: 112,653,524 (GRCm39) |
|
probably benign |
Het |
| Ube2q2l |
C |
A |
6: 136,378,099 (GRCm39) |
D244Y |
probably damaging |
Het |
| Ubn1 |
A |
G |
16: 4,899,791 (GRCm39) |
H1101R |
probably benign |
Het |
| Upf2 |
G |
A |
2: 6,032,150 (GRCm39) |
V899I |
unknown |
Het |
| Ush2a |
A |
T |
1: 188,360,763 (GRCm39) |
N2161I |
probably damaging |
Het |
| Usp25 |
A |
T |
16: 76,859,330 (GRCm39) |
D276V |
probably damaging |
Het |
| Vmn2r68 |
T |
A |
7: 84,882,915 (GRCm39) |
H279L |
probably benign |
Het |
| Vps13d |
G |
A |
4: 144,818,850 (GRCm39) |
R3019W |
probably damaging |
Het |
| Vsig10 |
A |
T |
5: 117,486,361 (GRCm39) |
E423D |
probably benign |
Het |
| Wdfy2 |
T |
A |
14: 63,162,582 (GRCm39) |
F95I |
probably benign |
Het |
| Xrn1 |
A |
G |
9: 95,915,763 (GRCm39) |
|
probably null |
Het |
| Zdhhc13 |
A |
G |
7: 48,461,149 (GRCm39) |
T362A |
possibly damaging |
Het |
| Zfp984 |
C |
T |
4: 147,845,703 (GRCm39) |
S2N |
probably benign |
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 |
|
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 |
|
R8324:Ncapg
|
UTSW |
5 |
45,853,010 (GRCm39) |
missense |
probably damaging |
1.00 |
|
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'- AGGACATGCAAATTGTTACCAG -3'
(R):5'- ATGGTATTGTCATAACTCCCTCCAAAG -3'
Sequencing Primer
(F):5'- GATTGCTTAAATCCCAAGTCTTTGAG -3'
(R):5'- TCCCTCCAAAGTAAATAAATTCTGGC -3'
|
| Posted On |
2018-05-24 |
Incidental Mutation