Incidental Mutation 'IGL03369:Ncaph2'
ID |
420218 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Ncaph2
|
Ensembl Gene |
ENSMUSG00000008690 |
Gene Name |
non-SMC condensin II complex, subunit H2 |
Synonyms |
0610010J20Rik, 2610524G04Rik, D15Ertd785e, Kleisin beta |
Accession Numbers |
|
Essential gene? |
Probably essential
(E-score: 0.941)
|
Stock # |
IGL03369
|
Quality Score |
|
Status
|
|
Chromosome |
15 |
Chromosomal Location |
89239922-89257029 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to G
at 89247858 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Valine to Glycine
at position 75
(V75G)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000036900
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000036987]
[ENSMUST00000074552]
[ENSMUST00000088717]
[ENSMUST00000145259]
|
AlphaFold |
Q8BSP2 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000036987
AA Change: V75G
PolyPhen 2
Score 0.434 (Sensitivity: 0.89; Specificity: 0.90)
|
SMART Domains |
Protein: ENSMUSP00000036900 Gene: ENSMUSG00000008690 AA Change: V75G
Domain | Start | End | E-Value | Type |
Pfam:DUF1032
|
20 |
576 |
N/A |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000074552
AA Change: V106G
PolyPhen 2
Score 0.055 (Sensitivity: 0.94; Specificity: 0.84)
|
SMART Domains |
Protein: ENSMUSP00000074139 Gene: ENSMUSG00000008690 AA Change: V106G
Domain | Start | End | E-Value | Type |
Pfam:DUF1032
|
51 |
607 |
N/A |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000088717
AA Change: V106G
PolyPhen 2
Score 0.055 (Sensitivity: 0.94; Specificity: 0.84)
|
SMART Domains |
Protein: ENSMUSP00000086095 Gene: ENSMUSG00000008690 AA Change: V106G
Domain | Start | End | E-Value | Type |
Pfam:CNDH2_N
|
11 |
123 |
1.2e-48 |
PFAM |
Pfam:CNDH2_M
|
147 |
285 |
2.1e-20 |
PFAM |
Pfam:CNDH2_C
|
308 |
598 |
1.9e-90 |
PFAM |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000123889
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000141643
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000145259
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000145793
|
Coding Region Coverage |
|
Validation Efficiency |
|
MGI Phenotype |
FUNCTION: This gene encodes a component of the condensin-2 complex. The encoded protein may regulate the structure of mitotic chromosomes. Loss of function of this gene disrupts T-cell development. There are two pseudogenes for this gene on chromosome 17. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Oct 2012] PHENOTYPE: Mice homozygous for an ENU-induced single point mutation display a specific defect in T cell development but are otherwise viable, fertile and overtly healthy with no apparent defects in B cell development. Homozygous null mice die before E12.5. [provided by MGI curators]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 39 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
1700013D24Rik |
T |
C |
6: 124,333,380 (GRCm39) |
N72S |
possibly damaging |
Het |
A2m |
G |
A |
6: 121,653,862 (GRCm39) |
|
probably null |
Het |
Angptl3 |
A |
T |
4: 98,923,057 (GRCm39) |
|
probably benign |
Het |
Aox4 |
A |
G |
1: 58,301,746 (GRCm39) |
D1106G |
probably benign |
Het |
Capn13 |
G |
A |
17: 73,648,149 (GRCm39) |
|
probably benign |
Het |
Cep250 |
A |
G |
2: 155,832,191 (GRCm39) |
H1371R |
probably benign |
Het |
Chrna1 |
A |
T |
2: 73,400,789 (GRCm39) |
F247Y |
probably benign |
Het |
Col2a1 |
T |
C |
15: 97,879,923 (GRCm39) |
T813A |
unknown |
Het |
Dab2 |
T |
C |
15: 6,464,790 (GRCm39) |
V414A |
possibly damaging |
Het |
Dach2 |
T |
C |
X: 112,465,937 (GRCm39) |
|
probably benign |
Het |
Fap |
A |
G |
2: 62,333,699 (GRCm39) |
|
probably benign |
Het |
Fgd5 |
T |
A |
6: 91,965,396 (GRCm39) |
V385D |
probably damaging |
Het |
Fmnl1 |
A |
G |
11: 103,088,008 (GRCm39) |
|
probably null |
Het |
Gorasp2 |
G |
A |
2: 70,513,336 (GRCm39) |
G201D |
probably damaging |
Het |
Gp2 |
T |
A |
7: 119,050,783 (GRCm39) |
Q316L |
probably damaging |
Het |
Gpx8 |
T |
C |
13: 113,179,696 (GRCm39) |
I202V |
probably damaging |
Het |
Gsta3 |
A |
G |
1: 21,335,173 (GRCm39) |
K218R |
probably benign |
Het |
Lama3 |
C |
T |
18: 12,686,340 (GRCm39) |
T1195I |
probably benign |
Het |
Map3k12 |
T |
C |
15: 102,410,514 (GRCm39) |
R488G |
possibly damaging |
Het |
Mapt |
A |
T |
11: 104,173,259 (GRCm39) |
Y18F |
probably damaging |
Het |
Med21 |
T |
C |
6: 146,544,143 (GRCm39) |
V12A |
probably benign |
Het |
Mgat4b |
A |
G |
11: 50,124,936 (GRCm39) |
E457G |
possibly damaging |
Het |
Mybl1 |
T |
A |
1: 9,742,780 (GRCm39) |
K609N |
probably damaging |
Het |
Neb |
A |
G |
2: 52,068,049 (GRCm39) |
Y5795H |
probably benign |
Het |
Nup153 |
A |
G |
13: 46,854,459 (GRCm39) |
|
probably null |
Het |
Or6c215 |
T |
C |
10: 129,638,340 (GRCm39) |
D18G |
probably damaging |
Het |
Or6y1 |
T |
A |
1: 174,276,435 (GRCm39) |
I82N |
probably damaging |
Het |
Plekhf2 |
G |
T |
4: 10,990,703 (GRCm39) |
T213K |
probably benign |
Het |
Plekho2 |
C |
A |
9: 65,466,776 (GRCm39) |
G105W |
probably damaging |
Het |
Polr3b |
G |
A |
10: 84,512,816 (GRCm39) |
G566D |
probably damaging |
Het |
Rasgrf1 |
T |
C |
9: 89,892,504 (GRCm39) |
I1068T |
probably damaging |
Het |
Rnf213 |
A |
T |
11: 119,312,294 (GRCm39) |
E907V |
probably benign |
Het |
Runx1t1 |
C |
T |
4: 13,881,107 (GRCm39) |
S469F |
probably damaging |
Het |
Spata31e4 |
G |
T |
13: 50,857,200 (GRCm39) |
C946F |
possibly damaging |
Het |
Top1 |
A |
T |
2: 160,535,647 (GRCm39) |
D182V |
unknown |
Het |
Uckl1 |
T |
C |
2: 181,211,982 (GRCm39) |
T375A |
probably benign |
Het |
Usp53 |
A |
T |
3: 122,727,370 (GRCm39) |
|
probably benign |
Het |
Vmn2r61 |
T |
A |
7: 41,909,517 (GRCm39) |
I14N |
probably benign |
Het |
Wbp4 |
A |
T |
14: 79,707,558 (GRCm39) |
N184K |
probably damaging |
Het |
|
Other mutations in Ncaph2 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00784:Ncaph2
|
APN |
15 |
89,254,243 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01640:Ncaph2
|
APN |
15 |
89,248,041 (GRCm39) |
splice site |
probably null |
|
IGL02550:Ncaph2
|
APN |
15 |
89,254,064 (GRCm39) |
nonsense |
probably null |
|
IGL02884:Ncaph2
|
APN |
15 |
89,248,447 (GRCm39) |
critical splice donor site |
probably null |
|
R0051:Ncaph2
|
UTSW |
15 |
89,253,867 (GRCm39) |
missense |
probably damaging |
0.98 |
R0051:Ncaph2
|
UTSW |
15 |
89,253,867 (GRCm39) |
missense |
probably damaging |
0.98 |
R0384:Ncaph2
|
UTSW |
15 |
89,253,594 (GRCm39) |
missense |
probably benign |
0.00 |
R1677:Ncaph2
|
UTSW |
15 |
89,255,427 (GRCm39) |
missense |
probably damaging |
1.00 |
R1680:Ncaph2
|
UTSW |
15 |
89,248,825 (GRCm39) |
missense |
probably benign |
|
R2570:Ncaph2
|
UTSW |
15 |
89,254,678 (GRCm39) |
missense |
probably benign |
0.03 |
R4647:Ncaph2
|
UTSW |
15 |
89,254,635 (GRCm39) |
missense |
probably damaging |
1.00 |
R4731:Ncaph2
|
UTSW |
15 |
89,240,030 (GRCm39) |
unclassified |
probably benign |
|
R4795:Ncaph2
|
UTSW |
15 |
89,255,010 (GRCm39) |
missense |
probably damaging |
1.00 |
R4796:Ncaph2
|
UTSW |
15 |
89,255,010 (GRCm39) |
missense |
probably damaging |
1.00 |
R4917:Ncaph2
|
UTSW |
15 |
89,244,574 (GRCm39) |
missense |
probably damaging |
1.00 |
R5089:Ncaph2
|
UTSW |
15 |
89,240,148 (GRCm39) |
critical splice donor site |
probably null |
|
R6143:Ncaph2
|
UTSW |
15 |
89,248,206 (GRCm39) |
critical splice donor site |
probably null |
|
R6500:Ncaph2
|
UTSW |
15 |
89,248,407 (GRCm39) |
missense |
probably benign |
0.00 |
R6768:Ncaph2
|
UTSW |
15 |
89,248,202 (GRCm39) |
nonsense |
probably null |
|
R6827:Ncaph2
|
UTSW |
15 |
89,255,530 (GRCm39) |
missense |
probably damaging |
1.00 |
R7033:Ncaph2
|
UTSW |
15 |
89,255,559 (GRCm39) |
missense |
probably benign |
0.00 |
R7272:Ncaph2
|
UTSW |
15 |
89,248,385 (GRCm39) |
missense |
probably benign |
|
R7386:Ncaph2
|
UTSW |
15 |
89,254,459 (GRCm39) |
nonsense |
probably null |
|
R8867:Ncaph2
|
UTSW |
15 |
89,254,605 (GRCm39) |
missense |
probably benign |
0.02 |
R8900:Ncaph2
|
UTSW |
15 |
89,253,594 (GRCm39) |
missense |
probably benign |
0.00 |
R9719:Ncaph2
|
UTSW |
15 |
89,249,526 (GRCm39) |
missense |
probably benign |
|
|
Posted On |
2016-08-02 |