Incidental Mutation 'R9353:Nckipsd'
ID 708225
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
MMRRC Submission
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.438) question?
Stock # R9353 (G1)
Quality Score 225.009
Status Validated
Chromosome 9
Chromosomal Location 108685567-108696043 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to A at 108691471 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Alanine to Glutamic Acid at position 416 (A416E)
Ref Sequence ENSEMBL: ENSMUSP00000035218 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000035218] [ENSMUST00000194819] [ENSMUST00000195323]
AlphaFold Q9ESJ4
Predicted Effect probably damaging
Transcript: ENSMUST00000035218
AA Change: A416E

PolyPhen 2 Score 0.985 (Sensitivity: 0.74; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000035218
Gene: ENSMUSG00000032598
AA Change: A416E

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 probably benign
Transcript: ENSMUST00000192678
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
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.8%
  • 20x: 99.2%
Validation Efficiency 98% (44/45)
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: 47 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Atp7b A T 8: 22,517,890 (GRCm39) V316D possibly damaging Het
Bhmt1b A G 18: 87,774,954 (GRCm39) E159G probably damaging Het
Cc2d2a T C 5: 43,860,691 (GRCm39) probably null Het
Ccdc88a A G 11: 29,427,433 (GRCm39) D1046G probably damaging Het
Ccl12 A T 11: 81,993,437 (GRCm39) D25V possibly damaging Het
Cdh23 G A 10: 60,143,306 (GRCm39) A3005V possibly damaging Het
Ces3a G T 8: 105,776,547 (GRCm39) R45L probably benign Het
Cntln G T 4: 84,802,597 (GRCm39) probably benign Het
Crybg3 C A 16: 59,421,107 (GRCm39) probably null Het
Cxxc4 G T 3: 133,945,913 (GRCm39) G165C unknown Het
Dab2ip G A 2: 35,598,851 (GRCm39) C181Y probably damaging Het
Dnah11 A G 12: 118,143,434 (GRCm39) V403A probably benign Het
Dnah12 T C 14: 26,578,507 (GRCm39) S3089P probably damaging Het
Dnajc13 A T 9: 104,067,571 (GRCm39) I1196N probably benign Het
Faiml T C 9: 99,116,462 (GRCm39) Y76C probably damaging Het
Fam171b T A 2: 83,707,028 (GRCm39) H299Q probably benign Het
Fbxo36 A G 1: 84,874,259 (GRCm39) N85S probably benign Het
Filip1 A G 9: 79,725,623 (GRCm39) F999L possibly damaging Het
Gtf3c3 A T 1: 54,445,211 (GRCm39) S614R possibly damaging Het
Il18rap A G 1: 40,587,088 (GRCm39) T457A probably benign Het
Inmt C T 6: 55,151,984 (GRCm39) probably benign Het
Kcnb1 C T 2: 166,947,007 (GRCm39) G614S probably benign Het
Kdm2a C T 19: 4,393,141 (GRCm39) D405N Het
Kdm5a T A 6: 120,404,730 (GRCm39) V1324E probably benign Het
Lyn A T 4: 3,746,804 (GRCm39) Y194F possibly damaging Het
Mdn1 A G 4: 32,693,504 (GRCm39) D1043G probably damaging Het
Mier1 T A 4: 103,012,800 (GRCm39) H397Q probably damaging Het
Mov10l1 T A 15: 88,872,622 (GRCm39) D105E possibly damaging Het
Muc21 T C 17: 35,930,545 (GRCm39) T1214A unknown Het
Nav3 A G 10: 109,554,065 (GRCm39) S1766P probably damaging Het
Ncdn T A 4: 126,644,464 (GRCm39) E119D probably benign Het
Nek5 A G 8: 22,563,961 (GRCm39) V623A probably benign Het
Oas1g A G 5: 121,023,986 (GRCm39) Y108H possibly damaging Het
Or13n4 T C 7: 106,423,062 (GRCm39) T224A probably benign Het
P2ry1 T C 3: 60,911,916 (GRCm39) S352P probably damaging Het
Pde6a T C 18: 61,390,382 (GRCm39) F535S probably damaging Het
Pitpnb T C 5: 111,530,891 (GRCm39) L228P probably damaging Het
Rbck1 G T 2: 152,161,145 (GRCm39) H368N probably damaging Het
Snrnp35 T A 5: 124,628,559 (GRCm39) V124E probably damaging Het
Spdye4a C T 5: 143,204,793 (GRCm39) M224I probably benign Het
Stau1 A G 2: 166,792,267 (GRCm39) Y424H probably damaging Het
Sult1c2 A T 17: 54,271,060 (GRCm39) D190E probably benign Het
Thbs1 A G 2: 117,953,051 (GRCm39) D887G probably damaging Het
Tiam2 C T 17: 3,558,074 (GRCm39) Q1233* probably null Het
Tmem88 A G 11: 69,288,939 (GRCm39) V38A probably damaging Het
Vmn1r219 G A 13: 23,346,902 (GRCm39) M30I probably benign Het
Zswim3 A G 2: 164,662,261 (GRCm39) H247R 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
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
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
Predicted Primers PCR Primer

Sequencing Primer
Posted On 2022-04-18