Incidental Mutation 'R6827:Ncaph2'
| ID |
534223 |
| 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 |
044938-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.941)
|
| Stock # |
R6827 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
15 |
| Chromosomal Location |
89239922-89257029 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 89255530 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 568
(V568A)
|
| 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 damaging
Transcript: ENSMUST00000036987
AA Change: V536A
PolyPhen 2
Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000036900
Gene: ENSMUSG00000008690
AA Change: V536A
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:DUF1032
|
20 |
576 |
N/A |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000074552
AA Change: V567A
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000074139
Gene: ENSMUSG00000008690
AA Change: V567A
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:DUF1032
|
51 |
607 |
N/A |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000088717
AA Change: V568A
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000086095
Gene: ENSMUSG00000008690
AA Change: V568A
| 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 |
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
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.5%
- 20x: 98.2%
|
| Validation Efficiency |
97% (36/37) |
| 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: 37 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Arhgef26 |
C |
A |
3: 62,330,919 (GRCm39) |
|
probably null |
Het |
| Asb3 |
A |
G |
11: 31,051,211 (GRCm39) |
N555S |
probably benign |
Het |
| Bcr |
T |
C |
10: 74,966,896 (GRCm39) |
V501A |
probably damaging |
Het |
| Cchcr1 |
A |
G |
17: 35,841,302 (GRCm39) |
T773A |
possibly damaging |
Het |
| Dmxl1 |
C |
T |
18: 50,054,091 (GRCm39) |
P2566S |
probably damaging |
Het |
| Dscam |
T |
A |
16: 96,840,191 (GRCm39) |
N139Y |
probably damaging |
Het |
| Ephx1 |
A |
G |
1: 180,817,453 (GRCm39) |
L406P |
probably damaging |
Het |
| Fbxl13 |
T |
A |
5: 21,727,176 (GRCm39) |
I607F |
probably damaging |
Het |
| Gm3573 |
T |
A |
14: 42,010,429 (GRCm39) |
T59S |
probably benign |
Het |
| Gm572 |
T |
C |
4: 148,742,543 (GRCm39) |
L94P |
possibly damaging |
Het |
| Gypa |
A |
T |
8: 81,231,417 (GRCm39) |
M109L |
probably benign |
Het |
| Hk3 |
C |
A |
13: 55,159,165 (GRCm39) |
V409L |
probably damaging |
Het |
| Kcnh6 |
A |
G |
11: 105,899,925 (GRCm39) |
T65A |
probably benign |
Het |
| Kdr |
G |
T |
5: 76,105,205 (GRCm39) |
P1055Q |
probably damaging |
Het |
| Lef1 |
T |
C |
3: 130,994,053 (GRCm39) |
|
probably null |
Het |
| Lrrc10 |
A |
G |
10: 116,881,545 (GRCm39) |
Q73R |
possibly damaging |
Het |
| Moxd1 |
C |
T |
10: 24,155,748 (GRCm39) |
T284I |
probably benign |
Het |
| Naf1 |
A |
T |
8: 67,330,343 (GRCm39) |
T290S |
possibly damaging |
Het |
| Naip5 |
C |
A |
13: 100,382,437 (GRCm39) |
V91L |
possibly damaging |
Het |
| Ntrk2 |
T |
C |
13: 59,274,382 (GRCm39) |
W753R |
probably damaging |
Het |
| Or51v15-ps1 |
C |
A |
7: 103,279,032 (GRCm39) |
C45F |
possibly damaging |
Het |
| Pbld1 |
C |
A |
10: 62,903,212 (GRCm39) |
N96K |
probably damaging |
Het |
| Pcdhac2 |
G |
A |
18: 37,277,706 (GRCm39) |
V229M |
probably benign |
Het |
| Prrc2b |
G |
T |
2: 32,090,963 (GRCm39) |
R445L |
probably benign |
Het |
| Scyl2 |
T |
C |
10: 89,505,666 (GRCm39) |
|
probably null |
Het |
| Sdf2l1 |
C |
G |
16: 16,950,158 (GRCm39) |
R6P |
probably benign |
Het |
| Slc22a5 |
A |
T |
11: 53,762,442 (GRCm39) |
I21N |
possibly damaging |
Het |
| Tex51 |
C |
T |
18: 32,591,713 (GRCm39) |
W186* |
probably null |
Het |
| Tmem168 |
A |
T |
6: 13,582,837 (GRCm39) |
F297L |
probably damaging |
Het |
| Trpm4 |
T |
C |
7: 44,968,052 (GRCm39) |
E293G |
possibly damaging |
Het |
| Trps1 |
T |
A |
15: 50,685,959 (GRCm39) |
T69S |
probably benign |
Het |
| Ubxn4 |
T |
C |
1: 128,204,714 (GRCm39) |
M468T |
probably benign |
Het |
| Unc5b |
C |
A |
10: 60,616,011 (GRCm39) |
R104L |
probably benign |
Het |
| Wfdc3 |
C |
T |
2: 164,576,178 (GRCm39) |
G38R |
possibly damaging |
Het |
| Wnt2b |
A |
G |
3: 104,854,408 (GRCm39) |
V350A |
probably benign |
Het |
| Zfp518b |
T |
C |
5: 38,828,882 (GRCm39) |
Q1041R |
probably damaging |
Het |
| Zranb1 |
T |
C |
7: 132,551,474 (GRCm39) |
F68L |
probably benign |
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 |
|
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 |
|
|
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 |
|
|
| Predicted Primers |
PCR Primer
(F):5'- TGATATCCATATCTACGGGGACCAG -3'
(R):5'- TTAGGGGCAAAGACCTCCAG -3'
Sequencing Primer
(F):5'- GGTTCCCCCAGCTCAATGAATG -3'
(R):5'- AGGTATATACTACTTTCCACCCCTG -3'
|
| Posted On |
2018-09-12 |
Incidental Mutation