Incidental Mutation 'R4283:Ncaph'
| ID |
321939 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ncaph
|
| Ensembl Gene |
ENSMUSG00000034906 |
| Gene Name |
non-SMC condensin I complex, subunit H |
| Synonyms |
Brrn1, A730011O11Rik, HCAP-H |
| MMRRC Submission |
041651-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R4283 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
2 |
| Chromosomal Location |
126945729-126975857 bp(-) (GRCm39) |
| Type of Mutation |
intron |
| DNA Base Change (assembly) |
A to G
at 126963005 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000110387]
|
| AlphaFold |
Q8C156 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000110387
|
| SMART Domains |
Protein: ENSMUSP00000106017
Gene: ENSMUSG00000034906
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Cnd2
|
25 |
729 |
9e-160 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000146142
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000175885
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000177191
|
| Meta Mutation Damage Score |
0.0898 |
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.4%
- 20x: 95.4%
|
| Validation Efficiency |
100% (41/41) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the barr gene family and a regulatory subunit of the condensin complex. This complex is required for the conversion of interphase chromatin into condensed chromosomes. The protein encoded by this gene is associated with mitotic chromosomes, except during the early phase of chromosome condensation. During interphase, the protein has a distinct punctate nucleolar localization. Alternatively spliced transcript variants encoding different proteins have been described. [provided by RefSeq, Jul 2013]
PHENOTYPE: Homozygous null mice die before E12.5. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 36 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 6030468B19Rik |
A |
G |
11: 117,697,087 (GRCm39) |
T229A |
probably benign |
Het |
| Adgrg5 |
T |
G |
8: 95,664,326 (GRCm39) |
V312G |
probably benign |
Het |
| Arl6ip1 |
AAAATAAATAAATAAATAAATAAATA |
AAAATAAATAAATAAATAAATAAATAAATA |
7: 117,721,122 (GRCm39) |
|
probably benign |
Het |
| Camk2b |
A |
C |
11: 5,937,099 (GRCm39) |
S327A |
probably benign |
Het |
| Card9 |
A |
G |
2: 26,247,309 (GRCm39) |
I280T |
possibly damaging |
Het |
| Cd274 |
A |
T |
19: 29,357,871 (GRCm39) |
M188L |
probably benign |
Het |
| Cga |
T |
C |
4: 34,905,264 (GRCm39) |
|
probably null |
Het |
| Copg1 |
C |
T |
6: 87,885,527 (GRCm39) |
T723M |
probably damaging |
Het |
| Cplx2 |
A |
G |
13: 54,527,377 (GRCm39) |
E87G |
probably damaging |
Het |
| Crtc2 |
A |
G |
3: 90,166,543 (GRCm39) |
|
probably benign |
Het |
| Defa27 |
A |
G |
8: 21,805,632 (GRCm39) |
N24S |
probably benign |
Het |
| Defb40 |
A |
G |
8: 19,028,093 (GRCm39) |
S14P |
probably damaging |
Het |
| Dnmt3a |
G |
A |
12: 3,951,665 (GRCm39) |
G681R |
probably damaging |
Het |
| Ghr |
C |
A |
15: 3,362,930 (GRCm39) |
V181L |
possibly damaging |
Het |
| Gm10750 |
A |
G |
2: 148,857,916 (GRCm39) |
F112L |
unknown |
Het |
| Gm17541 |
A |
G |
12: 4,739,656 (GRCm39) |
|
probably benign |
Het |
| Gmip |
T |
A |
8: 70,266,251 (GRCm39) |
|
probably benign |
Het |
| Hdac10 |
A |
G |
15: 89,009,826 (GRCm39) |
L402P |
possibly damaging |
Het |
| Hsd17b12 |
G |
C |
2: 93,863,931 (GRCm39) |
R304G |
unknown |
Het |
| Iqgap3 |
T |
C |
3: 88,006,167 (GRCm39) |
V526A |
probably benign |
Het |
| Ninl |
T |
C |
2: 150,795,336 (GRCm39) |
|
probably benign |
Het |
| Pcgf1 |
T |
A |
6: 83,056,714 (GRCm39) |
L90Q |
probably damaging |
Het |
| Pcsk4 |
C |
A |
10: 80,165,287 (GRCm39) |
|
probably benign |
Het |
| Ptpn21 |
T |
C |
12: 98,699,734 (GRCm39) |
E60G |
probably damaging |
Het |
| Rec8 |
A |
G |
14: 55,856,091 (GRCm39) |
H11R |
probably damaging |
Het |
| Ric1 |
A |
G |
19: 29,563,950 (GRCm39) |
Y568C |
probably damaging |
Het |
| Slc17a6 |
A |
G |
7: 51,294,824 (GRCm39) |
Y177C |
probably damaging |
Het |
| Tas2r104 |
C |
T |
6: 131,662,374 (GRCm39) |
A112T |
probably damaging |
Het |
| Tas2r123 |
G |
A |
6: 132,825,008 (GRCm39) |
V302I |
possibly damaging |
Het |
| Tas2r143 |
T |
A |
6: 42,378,007 (GRCm39) |
|
probably null |
Het |
| Tfeb |
A |
G |
17: 48,100,699 (GRCm39) |
E305G |
probably damaging |
Het |
| Ttn |
T |
A |
2: 76,585,168 (GRCm39) |
I22042F |
probably damaging |
Het |
| Upf2 |
A |
G |
2: 5,978,369 (GRCm39) |
N411S |
unknown |
Het |
| Vmn2r52 |
C |
T |
7: 9,904,565 (GRCm39) |
G425R |
possibly damaging |
Het |
| Zfp28 |
A |
T |
7: 6,396,700 (GRCm39) |
Q378H |
probably benign |
Het |
| Zfp429 |
A |
C |
13: 67,538,914 (GRCm39) |
C177G |
probably damaging |
Het |
|
| Other mutations in Ncaph |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02556:Ncaph
|
APN |
2 |
126,968,025 (GRCm39) |
splice site |
probably benign |
|
|
IGL02619:Ncaph
|
APN |
2 |
126,969,456 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL02674:Ncaph
|
APN |
2 |
126,955,496 (GRCm39) |
missense |
probably damaging |
0.98 |
|
IGL02679:Ncaph
|
APN |
2 |
126,966,784 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R2060:Ncaph
|
UTSW |
2 |
126,966,795 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3508:Ncaph
|
UTSW |
2 |
126,969,113 (GRCm39) |
missense |
probably benign |
0.33 |
|
R4761:Ncaph
|
UTSW |
2 |
126,948,036 (GRCm39) |
missense |
probably benign |
0.07 |
|
R4957:Ncaph
|
UTSW |
2 |
126,963,177 (GRCm39) |
missense |
possibly damaging |
0.46 |
|
R5491:Ncaph
|
UTSW |
2 |
126,965,595 (GRCm39) |
missense |
probably benign |
|
|
R5942:Ncaph
|
UTSW |
2 |
126,958,608 (GRCm39) |
splice site |
probably null |
|
|
R6523:Ncaph
|
UTSW |
2 |
126,947,809 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R7177:Ncaph
|
UTSW |
2 |
126,958,506 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7188:Ncaph
|
UTSW |
2 |
126,964,034 (GRCm39) |
missense |
probably benign |
0.09 |
|
R7467:Ncaph
|
UTSW |
2 |
126,975,795 (GRCm39) |
unclassified |
probably benign |
|
|
R7857:Ncaph
|
UTSW |
2 |
126,946,165 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R8699:Ncaph
|
UTSW |
2 |
126,963,096 (GRCm39) |
missense |
possibly damaging |
0.83 |
|
R8701:Ncaph
|
UTSW |
2 |
126,948,058 (GRCm39) |
missense |
probably benign |
0.13 |
|
R8843:Ncaph
|
UTSW |
2 |
126,950,529 (GRCm39) |
missense |
probably benign |
|
|
R9090:Ncaph
|
UTSW |
2 |
126,958,554 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R9271:Ncaph
|
UTSW |
2 |
126,958,554 (GRCm39) |
missense |
probably damaging |
0.99 |
|
X0021:Ncaph
|
UTSW |
2 |
126,969,058 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- TAACAATTCCTGCCAGCCAG -3'
(R):5'- ATCAATGCTGAGGCTGAAGAC -3'
Sequencing Primer
(F):5'- AGCTCAGAGGCAGCTGTCAG -3'
(R):5'- CTGAAGACGATGAAGAGGATGTCCC -3'
|
| Posted On |
2015-06-20 |
Incidental Mutation