Incidental Mutation 'IGL01809:Nckipsd'
ID 155767
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 # IGL01809
Quality Score
Status
Chromosome 9
Chromosomal Location 108685567-108696043 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 108694753 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Histidine at position 652 (Y652H)
Ref Sequence ENSEMBL: ENSMUSP00000035218 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000035218]
AlphaFold Q9ESJ4
Predicted Effect probably damaging
Transcript: ENSMUST00000035218
AA Change: Y652H

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000035218
Gene: ENSMUSG00000032598
AA Change: Y652H

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
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: 35 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca13 A T 11: 9,240,339 (GRCm39) N734I probably damaging Het
Abi1 T C 2: 22,836,729 (GRCm39) I371V probably benign Het
Atp8b3 A G 10: 80,355,845 (GRCm39) F1289S probably benign Het
Brca2 T A 5: 150,454,526 (GRCm39) probably null Het
C8a A T 4: 104,703,139 (GRCm39) I306N probably benign Het
Crybg3 G T 16: 59,345,216 (GRCm39) probably benign Het
Disp2 T A 2: 118,617,745 (GRCm39) probably benign Het
Dtl A G 1: 191,280,415 (GRCm39) F373S probably damaging Het
Dynlt1a G A 17: 6,361,147 (GRCm39) probably null Het
Dyrk1a G A 16: 94,460,476 (GRCm39) R44H probably benign Het
Fam114a2 C T 11: 57,404,461 (GRCm39) probably null Het
Fsip2 A G 2: 82,808,691 (GRCm39) E1670G possibly damaging Het
Gbp10 A T 5: 105,365,225 (GRCm39) N594K probably benign Het
Gpam T A 19: 55,064,057 (GRCm39) K679* probably null Het
Gtf2i A T 5: 134,278,804 (GRCm39) V524E probably damaging Het
Itpr2 T A 6: 146,129,079 (GRCm39) E2011D probably damaging Het
Jag1 C A 2: 136,957,404 (GRCm39) G103W probably damaging Het
Klkb1 A T 8: 45,729,090 (GRCm39) V378E probably benign Het
Lyst T A 13: 13,812,388 (GRCm39) S933R probably damaging Het
Man2b2 T C 5: 36,971,860 (GRCm39) S619G probably benign Het
Mex3b T C 7: 82,518,920 (GRCm39) S412P probably benign Het
Mtf2 A G 5: 108,235,191 (GRCm39) I36V probably benign Het
Or5ak24 A G 2: 85,260,498 (GRCm39) L225P probably damaging Het
Or5w13 T C 2: 87,524,089 (GRCm39) I46V possibly damaging Het
Or8b12i A G 9: 20,082,591 (GRCm39) I92T probably damaging Het
Or8g53 A T 9: 39,683,990 (GRCm39) Y35* probably null Het
Phykpl T C 11: 51,490,351 (GRCm39) F411L probably benign Het
Rbm8a T A 3: 96,538,853 (GRCm39) F101I probably damaging Het
Rbp3 G T 14: 33,677,257 (GRCm39) G402W probably damaging Het
Recql4 G A 15: 76,593,070 (GRCm39) R254* probably null Het
Rsph14 G A 10: 74,793,618 (GRCm39) probably benign Het
Stau2 A T 1: 16,510,539 (GRCm39) probably null Het
Tmprss11c G A 5: 86,385,521 (GRCm39) S304L possibly damaging Het
Vipr1 T G 9: 121,490,506 (GRCm39) M184R possibly damaging Het
Zfp106 G A 2: 120,364,152 (GRCm39) R752C probably damaging Het
Other mutations in Nckipsd
AlleleSourceChrCoordTypePredicted EffectPPH 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
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 2014-02-04