Incidental Mutation 'IGL01809:Nckipsd'
ID155767
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: 0.368) question?
Stock #IGL01809
Quality Score
Status
Chromosome9
Chromosomal Location108808368-108818844 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 108817554 bp
ZygosityHeterozygous
Amino Acid Change Tyrosine to Histidine at position 652 (Y652H)
Ref Sequence ENSEMBL: ENSMUSP00000035218 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000035218]
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: 9,290,339 N734I probably damaging Het
Abi1 T C 2: 22,946,717 I371V probably benign Het
Atp8b3 A G 10: 80,520,011 F1289S probably benign Het
Brca2 T A 5: 150,531,061 probably null Het
C8a A T 4: 104,845,942 I306N probably benign Het
Crybg3 G T 16: 59,524,853 probably benign Het
Disp2 T A 2: 118,787,264 probably benign Het
Dtl A G 1: 191,548,303 F373S probably damaging Het
Dynlt1a G A 17: 6,310,872 probably null Het
Dyrk1a G A 16: 94,659,617 R44H probably benign Het
Fam114a2 C T 11: 57,513,635 probably null Het
Fsip2 A G 2: 82,978,347 E1670G possibly damaging Het
Gbp10 A T 5: 105,217,359 N594K probably benign Het
Gpam T A 19: 55,075,625 K679* probably null Het
Gtf2i A T 5: 134,249,950 V524E probably damaging Het
Itpr2 T A 6: 146,227,581 E2011D probably damaging Het
Jag1 C A 2: 137,115,484 G103W probably damaging Het
Klkb1 A T 8: 45,276,053 V378E probably benign Het
Lyst T A 13: 13,637,803 S933R probably damaging Het
Man2b2 T C 5: 36,814,516 S619G probably benign Het
Mex3b T C 7: 82,869,712 S412P probably benign Het
Mtf2 A G 5: 108,087,325 I36V probably benign Het
Olfr1136 T C 2: 87,693,745 I46V possibly damaging Het
Olfr870 A G 9: 20,171,295 I92T probably damaging Het
Olfr968 A T 9: 39,772,694 Y35* probably null Het
Olfr994 A G 2: 85,430,154 L225P probably damaging Het
Phykpl T C 11: 51,599,524 F411L probably benign Het
Rbm8a T A 3: 96,631,537 F101I probably damaging Het
Rbp3 G T 14: 33,955,300 G402W probably damaging Het
Recql4 G A 15: 76,708,870 R254* probably null Het
Rsph14 G A 10: 74,957,786 probably benign Het
Stau2 A T 1: 16,440,315 probably null Het
Tmprss11c G A 5: 86,237,662 S304L possibly damaging Het
Vipr1 T G 9: 121,661,440 M184R possibly damaging Het
Zfp106 G A 2: 120,533,671 R752C 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
IGL03229:Nckipsd APN 9 108811614 missense probably benign
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 On2014-02-04