Incidental Mutation 'Y4335:Nckipsd'
| ID |
197500 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Nckipsd
|
| Ensembl Gene |
ENSMUSG00000032598 |
| Gene Name |
NCK interacting protein with SH3 domain |
| Synonyms |
ORF1, DIP1, Wasbp, SPIN90, AF3P21, WISH |
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.438)
|
| Stock # |
Y4335 ()
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
9 |
| Chromosomal Location |
108685567-108696043 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 108694744 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Cysteine
at position 649
(R649C)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000035218
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000035218]
|
| AlphaFold |
Q9ESJ4 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000035218
AA Change: R649C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000035218
Gene: ENSMUSG00000032598
AA Change: R649C
| Domain | Start | End | E-Value | Type |
|---|
|
SH3
|
1 |
57 |
2.21e-9 |
SMART |
|
low complexity region
|
162 |
179 |
N/A |
INTRINSIC |
|
low complexity region
|
200 |
215 |
N/A |
INTRINSIC |
|
low complexity region
|
230 |
240 |
N/A |
INTRINSIC |
|
low complexity region
|
249 |
271 |
N/A |
INTRINSIC |
|
low complexity region
|
288 |
298 |
N/A |
INTRINSIC |
|
Pfam:DUF2013
|
539 |
675 |
5e-36 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000192180
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000192678
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000194413
|
| Coding Region Coverage |
- 1x: 97.5%
- 3x: 96.9%
- 10x: 95.4%
- 20x: 92.6%
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is localized exclusively in the cell nucleus. It plays a role in signal transduction, and may function in the maintenance of sarcomeres and in the assembly of myofibrils into sarcomeres. It also plays an important role in stress fiber formation. The gene is involved in therapy-related leukemia by a chromosomal translocation t(3;11)(p21;q23) that involves this gene and the myeloid/lymphoid leukemia gene. Alternative splicing results in multiple transcript variants of this gene. [provided by RefSeq, Jul 2013]
PHENOTYPE: Mice homozygous for a null mutation exhibit altered protein composition of postsynaptic densities and actin cytoskeleton in hippocampal neurons. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 6 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aak1 |
ACAGCAGCAGCAGCAGCAGCAGCAGC |
ACAGCAGCAGCAGCAGCAGCAGC |
6: 86,936,124 (GRCm39) |
|
probably benign |
Het |
| Hsh2d |
G |
A |
8: 72,954,304 (GRCm39) |
D229N |
probably benign |
Het |
| Naip1 |
C |
A |
13: 100,562,030 (GRCm39) |
R1045L |
probably benign |
Het |
| Rsf1 |
ATGGCG |
ATGGCGACGGTGGCG |
7: 97,229,111 (GRCm39) |
|
probably benign |
Het |
| Tpcn2 |
T |
C |
7: 144,810,972 (GRCm39) |
Y575C |
probably damaging |
Het |
| Unc80 |
C |
T |
1: 66,560,740 (GRCm39) |
H823Y |
possibly damaging |
Het |
|
| Other mutations in Nckipsd |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00088:Nckipsd
|
APN |
9 |
108,692,168 (GRCm39) |
missense |
probably benign |
0.07 |
|
IGL01601:Nckipsd
|
APN |
9 |
108,691,154 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL01809:Nckipsd
|
APN |
9 |
108,694,753 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03229:Nckipsd
|
APN |
9 |
108,688,813 (GRCm39) |
missense |
probably benign |
|
|
R0714:Nckipsd
|
UTSW |
9 |
108,691,333 (GRCm39) |
unclassified |
probably benign |
|
|
R1323:Nckipsd
|
UTSW |
9 |
108,689,778 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1323:Nckipsd
|
UTSW |
9 |
108,689,778 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1543:Nckipsd
|
UTSW |
9 |
108,689,571 (GRCm39) |
missense |
possibly damaging |
0.62 |
|
R1958:Nckipsd
|
UTSW |
9 |
108,691,863 (GRCm39) |
splice site |
probably null |
|
|
R2127:Nckipsd
|
UTSW |
9 |
108,688,932 (GRCm39) |
missense |
probably benign |
|
|
R3697:Nckipsd
|
UTSW |
9 |
108,688,320 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3698:Nckipsd
|
UTSW |
9 |
108,688,320 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3921:Nckipsd
|
UTSW |
9 |
108,691,275 (GRCm39) |
missense |
possibly damaging |
0.81 |
|
R4755:Nckipsd
|
UTSW |
9 |
108,691,938 (GRCm39) |
missense |
probably benign |
0.28 |
|
R4879:Nckipsd
|
UTSW |
9 |
108,691,114 (GRCm39) |
unclassified |
probably benign |
|
|
R5796:Nckipsd
|
UTSW |
9 |
108,688,813 (GRCm39) |
missense |
probably benign |
|
|
R5891:Nckipsd
|
UTSW |
9 |
108,685,808 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5943:Nckipsd
|
UTSW |
9 |
108,689,435 (GRCm39) |
missense |
possibly damaging |
0.54 |
|
R5994:Nckipsd
|
UTSW |
9 |
108,691,176 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6144:Nckipsd
|
UTSW |
9 |
108,689,585 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6403:Nckipsd
|
UTSW |
9 |
108,688,882 (GRCm39) |
missense |
possibly damaging |
0.71 |
|
R7413:Nckipsd
|
UTSW |
9 |
108,691,280 (GRCm39) |
missense |
probably benign |
0.30 |
|
R7676:Nckipsd
|
UTSW |
9 |
108,692,153 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7702:Nckipsd
|
UTSW |
9 |
108,691,216 (GRCm39) |
nonsense |
probably null |
|
|
R7893:Nckipsd
|
UTSW |
9 |
108,692,588 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8257:Nckipsd
|
UTSW |
9 |
108,692,127 (GRCm39) |
missense |
probably benign |
0.10 |
|
R9327:Nckipsd
|
UTSW |
9 |
108,691,699 (GRCm39) |
missense |
possibly damaging |
0.49 |
|
R9353:Nckipsd
|
UTSW |
9 |
108,691,471 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R9484:Nckipsd
|
UTSW |
9 |
108,689,837 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Z1088:Nckipsd
|
UTSW |
9 |
108,691,876 (GRCm39) |
missense |
probably benign |
0.05 |
|
| Predicted Primers |
|
| Posted On |
2014-05-23 |
Incidental Mutation