Incidental Mutation 'R0051:Ncaph2'
| ID |
18478 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ncaph2
|
| Ensembl Gene |
ENSMUSG00000008690 |
| Gene Name |
non-SMC condensin II complex, subunit H2 |
| Synonyms |
0610010J20Rik, 2610524G04Rik, D15Ertd785e, Kleisin beta |
| MMRRC Submission |
038345-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.941)
|
| Stock # |
R0051 (G1)
|
| Quality Score |
|
|
Status
|
Validated
|
| Chromosome |
15 |
| Chromosomal Location |
89239922-89257029 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 89253867 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Proline
at position 320
(S320P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000086095
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000023285]
[ENSMUST00000036987]
[ENSMUST00000074552]
[ENSMUST00000088717]
[ENSMUST00000145259]
[ENSMUST00000167643]
[ENSMUST00000228977]
|
| AlphaFold |
Q8BSP2 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000023285
|
| SMART Domains |
Protein: ENSMUSP00000023285
Gene: ENSMUSG00000022615
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
2 |
17 |
N/A |
INTRINSIC |
|
Pfam:Glycos_trans_3N
|
23 |
85 |
1.5e-20 |
PFAM |
|
Pfam:Glycos_transf_3
|
95 |
326 |
3.1e-50 |
PFAM |
|
PYNP_C
|
374 |
448 |
6.46e-14 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000036987
AA Change: S289P
PolyPhen 2
Score 0.126 (Sensitivity: 0.93; Specificity: 0.86)
|
| SMART Domains |
Protein: ENSMUSP00000036900
Gene: ENSMUSG00000008690
AA Change: S289P
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:DUF1032
|
20 |
576 |
N/A |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000074552
AA Change: S320P
PolyPhen 2
Score 0.983 (Sensitivity: 0.75; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000074139
Gene: ENSMUSG00000008690
AA Change: S320P
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:DUF1032
|
51 |
607 |
N/A |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000088717
AA Change: S320P
PolyPhen 2
Score 0.983 (Sensitivity: 0.75; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000086095
Gene: ENSMUSG00000008690
AA Change: S320P
| 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: ENSMUST00000134900
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000136638
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000140665
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000147207
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000145793
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000147733
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000151523
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000145259
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000167643
|
| SMART Domains |
Protein: ENSMUSP00000131943
Gene: ENSMUSG00000091780
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:SCO1-SenC
|
52 |
234 |
1.4e-47 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000228977
|
| Meta Mutation Damage Score |
0.1466 |
| Coding Region Coverage |
- 1x: 88.8%
- 3x: 85.7%
- 10x: 76.8%
- 20x: 60.8%
|
| Validation Efficiency |
84% (69/82) |
| 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: 45 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 6330444E15Rik |
A |
G |
7: 29,278,526 (GRCm39) |
|
noncoding transcript |
Het |
| Ankrd11 |
C |
A |
8: 123,616,481 (GRCm39) |
C2457F |
probably damaging |
Het |
| Anks3 |
G |
C |
16: 4,765,613 (GRCm39) |
T163S |
probably benign |
Het |
| Cacna1d |
G |
A |
14: 29,833,052 (GRCm39) |
P908S |
probably damaging |
Het |
| Ccdc146 |
C |
A |
5: 21,521,902 (GRCm39) |
R374L |
possibly damaging |
Het |
| Cdc45 |
G |
T |
16: 18,613,524 (GRCm39) |
A348E |
probably damaging |
Het |
| Cfap46 |
A |
G |
7: 139,255,951 (GRCm39) |
C300R |
probably damaging |
Het |
| Coq2 |
T |
C |
5: 100,811,551 (GRCm39) |
N146S |
probably benign |
Het |
| Dalrd3 |
T |
C |
9: 108,449,414 (GRCm39) |
V120A |
possibly damaging |
Het |
| Ddx39a |
A |
G |
8: 84,447,251 (GRCm39) |
K137R |
possibly damaging |
Het |
| Diaph3 |
A |
G |
14: 87,274,890 (GRCm39) |
|
probably null |
Het |
| Dmbt1 |
G |
T |
7: 130,721,225 (GRCm39) |
R1668L |
possibly damaging |
Het |
| Dpp7 |
A |
G |
2: 25,246,107 (GRCm39) |
Y49H |
possibly damaging |
Het |
| Drd5 |
A |
G |
5: 38,477,957 (GRCm39) |
S317G |
probably benign |
Het |
| Ecpas |
A |
G |
4: 58,832,729 (GRCm39) |
L877S |
probably damaging |
Het |
| Ecsit |
C |
T |
9: 21,987,584 (GRCm39) |
V152I |
probably benign |
Het |
| Eeig1 |
G |
A |
2: 32,448,065 (GRCm39) |
R58Q |
possibly damaging |
Het |
| Fcrl6 |
A |
T |
1: 172,426,320 (GRCm39) |
L159Q |
probably benign |
Het |
| Frrs1 |
T |
C |
3: 116,678,946 (GRCm39) |
|
probably benign |
Het |
| Galnt14 |
C |
A |
17: 73,814,854 (GRCm39) |
R403L |
probably benign |
Het |
| Hspd1 |
A |
G |
1: 55,121,205 (GRCm39) |
|
probably benign |
Het |
| Klf17 |
T |
C |
4: 117,617,589 (GRCm39) |
Y256C |
probably damaging |
Het |
| Mafg |
G |
T |
11: 120,520,430 (GRCm39) |
R57S |
probably damaging |
Het |
| Med13l |
T |
A |
5: 118,880,720 (GRCm39) |
W1271R |
probably damaging |
Het |
| Mrpl4 |
C |
A |
9: 20,918,964 (GRCm39) |
T203K |
probably damaging |
Het |
| Mtrf1l |
T |
C |
10: 5,763,382 (GRCm39) |
K316E |
probably damaging |
Het |
| Nbeal1 |
T |
A |
1: 60,349,422 (GRCm39) |
N2361K |
probably benign |
Het |
| Nek11 |
A |
G |
9: 105,095,738 (GRCm39) |
|
probably benign |
Het |
| Ptprn |
A |
G |
1: 75,228,898 (GRCm39) |
|
probably null |
Het |
| Rab37 |
T |
C |
11: 115,049,491 (GRCm39) |
L100P |
probably damaging |
Het |
| Rbm26 |
A |
C |
14: 105,389,976 (GRCm39) |
V216G |
possibly damaging |
Het |
| Rnf115 |
A |
G |
3: 96,692,338 (GRCm39) |
D178G |
probably damaging |
Het |
| Rtel1 |
C |
T |
2: 180,992,449 (GRCm39) |
Q424* |
probably null |
Het |
| Rwdd4a |
A |
G |
8: 47,990,400 (GRCm39) |
|
probably benign |
Het |
| Ryr3 |
T |
C |
2: 112,699,420 (GRCm39) |
D890G |
probably damaging |
Het |
| Serpina10 |
A |
G |
12: 103,593,156 (GRCm39) |
|
probably benign |
Het |
| Slc43a2 |
T |
C |
11: 75,453,676 (GRCm39) |
C225R |
probably damaging |
Het |
| Slc6a9 |
T |
C |
4: 117,722,056 (GRCm39) |
F440L |
probably damaging |
Het |
| Stk32b |
A |
G |
5: 37,616,940 (GRCm39) |
|
probably benign |
Het |
| Syna |
A |
G |
5: 134,588,397 (GRCm39) |
L184P |
probably damaging |
Het |
| Tbx10 |
T |
C |
19: 4,046,798 (GRCm39) |
|
probably null |
Het |
| Tmprss7 |
T |
C |
16: 45,494,302 (GRCm39) |
N401S |
probably damaging |
Het |
| Tut4 |
T |
G |
4: 108,384,201 (GRCm39) |
S1089R |
probably damaging |
Het |
| Ugt2a3 |
A |
G |
5: 87,484,865 (GRCm39) |
V53A |
probably damaging |
Het |
| Yeats2 |
T |
A |
16: 20,012,474 (GRCm39) |
Y557* |
probably null |
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 |
|
|
IGL03369:Ncaph2
|
APN |
15 |
89,247,858 (GRCm39) |
missense |
probably benign |
0.43 |
|
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 |
2013-03-25 |
Incidental Mutation