Incidental Mutation 'IGL01601:Nckipsd'
ID 91781
Institutional Source Australian Phenomics Network (link to record)
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) question?
Stock # IGL01601
Quality Score
Chromosome 9
Chromosomal Location 108685567-108696043 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 108691154 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Glycine at position 359 (S359G)
Ref Sequence ENSEMBL: ENSMUSP00000035218 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000035218] [ENSMUST00000194819] [ENSMUST00000195323]
AlphaFold Q9ESJ4
Predicted Effect probably benign
Transcript: ENSMUST00000035218
AA Change: S359G

PolyPhen 2 Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)
SMART Domains Protein: ENSMUSP00000035218
Gene: ENSMUSG00000032598
AA Change: S359G

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 unknown
Transcript: ENSMUST00000192678
AA Change: E17G
Predicted Effect noncoding transcript
Transcript: ENSMUST00000194413
Predicted Effect probably benign
Transcript: ENSMUST00000194819
SMART Domains Protein: ENSMUSP00000141702
Gene: ENSMUSG00000032598

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

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: 30 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adgrf2 T C 17: 43,020,940 (GRCm39) D628G probably benign Het
Aldh1l1 T A 6: 90,568,823 (GRCm39) I708N probably damaging Het
Ank3 T A 10: 69,840,555 (GRCm39) F985I possibly damaging Het
Arap2 A G 5: 62,798,685 (GRCm39) W1315R probably damaging Het
Arhgef33 C A 17: 80,655,112 (GRCm39) Q106K probably damaging Het
Atad5 G A 11: 79,986,343 (GRCm39) G477S probably benign Het
Chgb T A 2: 132,635,411 (GRCm39) I451K probably benign Het
Cln6 T A 9: 62,754,252 (GRCm39) I98N probably damaging Het
Commd1 T C 11: 22,849,981 (GRCm39) E234G probably damaging Het
Dock2 C A 11: 34,189,528 (GRCm39) probably null Het
Flrt2 T C 12: 95,746,369 (GRCm39) S236P probably damaging Het
Garnl3 G A 2: 32,887,701 (GRCm39) Q770* probably null Het
Gpr22 C T 12: 31,760,044 (GRCm39) probably benign Het
Hmcn1 A T 1: 150,503,164 (GRCm39) D3880E probably benign Het
Lgals8 T C 13: 12,471,219 (GRCm39) probably benign Het
Mccc1 A G 3: 36,044,101 (GRCm39) V214A probably benign Het
Nat8l T C 5: 34,155,809 (GRCm39) L155P probably damaging Het
Pex6 A C 17: 47,034,650 (GRCm39) N785T probably damaging Het
Potefam1 A T 2: 111,023,823 (GRCm39) C104S unknown Het
Ptprz1 T A 6: 23,000,437 (GRCm39) H842Q probably damaging Het
Rhno1 A T 6: 128,335,021 (GRCm39) S101T probably damaging Het
Rnf103 T G 6: 71,486,167 (GRCm39) V266G probably damaging Het
Slc25a39 T C 11: 102,296,544 (GRCm39) D100G probably damaging Het
Sspo T C 6: 48,463,313 (GRCm39) L3746P probably benign Het
Svep1 C T 4: 58,084,872 (GRCm39) G1822E probably damaging Het
Tbl3 T A 17: 24,921,291 (GRCm39) D500V probably damaging Het
Tmc5 T C 7: 118,223,047 (GRCm39) probably benign Het
Usp20 C T 2: 30,901,806 (GRCm39) R524W probably benign Het
Wnk2 G T 13: 49,230,038 (GRCm39) P829T probably damaging Het
Zmiz1 A G 14: 25,582,068 (GRCm39) N84S possibly damaging Het
Other mutations in Nckipsd
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00088:Nckipsd APN 9 108,692,168 (GRCm39) missense probably benign 0.07
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
Y4335:Nckipsd UTSW 9 108,694,744 (GRCm39) missense probably damaging 1.00
Z1088:Nckipsd UTSW 9 108,691,876 (GRCm39) missense probably benign 0.05
Posted On 2013-12-09