Incidental Mutation 'IGL03229:Nckipsd'
ID413807
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Nckipsd
Ensembl Gene ENSMUSG00000032598
Gene NameNCK interacting protein with SH3 domain
SynonymsAF3P21, Wasbp, SPIN90, DIP1, WISH, ORF1
Accession Numbers
Is this an essential gene? Possibly non essential (E-score: 0.352) question?
Stock #IGL03229
Quality Score
Status
Chromosome9
Chromosomal Location108808368-108818844 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 108811614 bp
ZygosityHeterozygous
Amino Acid Change Valine to Alanine at position 116 (V116A)
Ref Sequence ENSEMBL: ENSMUSP00000035218 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000035218] [ENSMUST00000194819] [ENSMUST00000195323]
Predicted Effect probably benign
Transcript: ENSMUST00000035218
AA Change: V116A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000035218
Gene: ENSMUSG00000032598
AA Change: V116A

DomainStartEndE-ValueType
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
Predicted Effect probably benign
Transcript: ENSMUST00000194819
SMART Domains Protein: ENSMUSP00000141702
Gene: ENSMUSG00000032598

DomainStartEndE-ValueType
SH3 1 52 3.3e-3 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000195323
SMART Domains Protein: ENSMUSP00000141728
Gene: ENSMUSG00000032598

DomainStartEndE-ValueType
SH3 1 57 1.4e-11 SMART
Coding Region Coverage
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: 36 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcb4 T C 5: 8,940,936 I832T probably damaging Het
Adcyap1r1 T C 6: 55,478,123 S124P probably damaging Het
Coq4 A G 2: 29,788,485 D41G probably benign Het
Cpb1 A T 3: 20,249,837 Y354* probably null Het
Dip2b T C 15: 100,207,838 probably benign Het
Dmxl2 C T 9: 54,404,172 R1755H probably damaging Het
Dyrk4 G T 6: 126,886,642 probably benign Het
E2f7 T C 10: 110,754,346 V120A probably benign Het
Fsip2 A T 2: 82,978,076 I1580F possibly damaging Het
Gm7030 C T 17: 36,127,722 G259E probably damaging Het
Gm9755 C A 8: 67,514,672 noncoding transcript Het
Gprc6a T G 10: 51,616,603 N480T probably damaging Het
Hdlbp T C 1: 93,430,187 I331V probably benign Het
Heatr6 G T 11: 83,781,445 G1093V probably benign Het
Hist2h2ac C T 3: 96,220,637 A70T probably damaging Het
Kri1 T C 9: 21,282,070 E162G probably damaging Het
Nek10 A G 14: 14,986,686 H997R probably benign Het
Nov A G 15: 54,749,308 T238A probably benign Het
Nxph1 A G 6: 9,247,830 Y267C probably damaging Het
Olfr1090 A T 2: 86,754,016 C241S probably damaging Het
Olfr294 T C 7: 86,616,078 D189G probably benign Het
Ppip5k2 A T 1: 97,728,961 V829E probably damaging Het
Prkcz A C 4: 155,262,506 S573A probably benign Het
Prl2c1 T A 13: 27,856,629 probably benign Het
Rgs22 T A 15: 36,015,779 probably benign Het
Scn1a T A 2: 66,299,713 I1253F probably damaging Het
Tarm1 A G 7: 3,496,897 C146R probably damaging Het
Tor2a A T 2: 32,759,692 I189F probably damaging Het
Trappc9 A T 15: 73,058,456 L17Q probably damaging Het
Trim45 T A 3: 100,923,069 L53Q probably damaging Het
Ubr7 T C 12: 102,769,155 L291P probably damaging Het
Unc79 T C 12: 103,134,539 V1878A probably damaging Het
Wdr90 T C 17: 25,845,463 probably benign Het
Xpnpep1 T C 19: 53,025,380 H42R probably benign Het
Zfp750 G A 11: 121,512,952 H366Y possibly damaging Het
Zmynd11 A G 13: 9,689,565 C462R probably damaging Het
Other mutations in Nckipsd
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00088:Nckipsd APN 9 108814969 missense probably benign 0.07
IGL01601:Nckipsd APN 9 108813955 missense probably benign 0.00
IGL01809:Nckipsd APN 9 108817554 missense probably damaging 1.00
R0714:Nckipsd UTSW 9 108814134 unclassified probably benign
R1323:Nckipsd UTSW 9 108812579 missense probably damaging 1.00
R1323:Nckipsd UTSW 9 108812579 missense probably damaging 1.00
R1543:Nckipsd UTSW 9 108812372 missense possibly damaging 0.62
R1958:Nckipsd UTSW 9 108814664 splice site probably null
R2127:Nckipsd UTSW 9 108811733 missense probably benign
R3697:Nckipsd UTSW 9 108811121 missense probably damaging 1.00
R3698:Nckipsd UTSW 9 108811121 missense probably damaging 1.00
R3921:Nckipsd UTSW 9 108814076 missense possibly damaging 0.81
R4755:Nckipsd UTSW 9 108814739 missense probably benign 0.28
R4879:Nckipsd UTSW 9 108813915 unclassified probably benign
R5796:Nckipsd UTSW 9 108811614 missense probably benign
R5891:Nckipsd UTSW 9 108808609 missense probably damaging 1.00
R5943:Nckipsd UTSW 9 108812236 missense possibly damaging 0.54
R5994:Nckipsd UTSW 9 108813977 missense probably benign 0.00
R6144:Nckipsd UTSW 9 108812386 missense probably damaging 1.00
R6403:Nckipsd UTSW 9 108811683 missense possibly damaging 0.71
Y4335:Nckipsd UTSW 9 108817545 missense probably damaging 1.00
Z1088:Nckipsd UTSW 9 108814677 missense probably benign 0.05
Posted On2016-08-02