Incidental Mutation 'R1958:Nckipsd'
ID 218046
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 039972-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.438) question?
Stock # R1958 (G1)
Quality Score 225
Status Validated
Chromosome 9
Chromosomal Location 108685567-108696043 bp(+) (GRCm39)
Type of Mutation splice site
DNA Base Change (assembly) C to A at 108691863 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000035218 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000035218] [ENSMUST00000194819] [ENSMUST00000195323]
AlphaFold Q9ESJ4
Predicted Effect probably null
Transcript: ENSMUST00000035218
SMART Domains Protein: ENSMUSP00000035218
Gene: ENSMUSG00000032598

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

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
Meta Mutation Damage Score 0.9755 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.5%
  • 10x: 96.7%
  • 20x: 94.0%
Validation Efficiency 97% (99/102)
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: 100 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4933430I17Rik A T 4: 62,457,146 (GRCm39) N155I probably benign Het
Abca14 A G 7: 119,924,382 (GRCm39) Y1678C probably damaging Het
Adamts19 A T 18: 59,103,078 (GRCm39) R706S probably benign Het
Adipor1 T C 1: 134,350,771 (GRCm39) S7P probably benign Het
Adss2 A G 1: 177,597,544 (GRCm39) I372T probably damaging Het
Arhgap15 T A 2: 44,133,136 (GRCm39) D347E possibly damaging Het
Arnt C T 3: 95,355,704 (GRCm39) S16L possibly damaging Het
Asb8 T C 15: 98,034,097 (GRCm39) T153A possibly damaging Het
Aspscr1 G T 11: 120,580,034 (GRCm39) G191V probably null Het
Atm T C 9: 53,382,718 (GRCm39) H1957R probably damaging Het
Atp13a5 A G 16: 29,133,419 (GRCm39) Y411H probably damaging Het
Cadm1 T G 9: 47,761,633 (GRCm39) I411S probably damaging Het
Cdh23 T A 10: 60,246,652 (GRCm39) M927L probably benign Het
Cdk15 A T 1: 59,383,475 (GRCm39) R423W probably damaging Het
Cep250 T A 2: 155,818,301 (GRCm39) probably null Het
Cfap43 T A 19: 47,885,649 (GRCm39) Y322F probably benign Het
Cfap54 T C 10: 92,833,204 (GRCm39) S1141G probably benign Het
Clnk T C 5: 38,863,969 (GRCm39) Y428C possibly damaging Het
Cnksr1 A G 4: 133,955,727 (GRCm39) S668P probably benign Het
Cpxm2 A T 7: 131,663,876 (GRCm39) I349N probably damaging Het
Csmd3 A G 15: 47,868,035 (GRCm39) probably null Het
Cstdc3 T C 16: 36,132,927 (GRCm39) L68P possibly damaging Het
Dnmt1 C T 9: 20,838,442 (GRCm39) R207H probably benign Het
Dph2 A T 4: 117,749,041 (GRCm39) F5I probably damaging Het
Dst T A 1: 34,202,802 (GRCm39) F325L probably damaging Het
Edem3 T C 1: 151,680,076 (GRCm39) L474S probably damaging Het
Emilin1 T A 5: 31,075,160 (GRCm39) L467Q probably benign Het
Fam170a G A 18: 50,415,181 (GRCm39) E276K probably benign Het
Farp1 A T 14: 121,456,787 (GRCm39) probably null Het
Fbrs A T 7: 127,085,163 (GRCm39) T584S possibly damaging Het
Fbxo22 T A 9: 55,116,626 (GRCm39) probably null Het
Fhod3 T G 18: 25,223,522 (GRCm39) L956R probably damaging Het
Fmo4 G A 1: 162,631,259 (GRCm39) T236I probably benign Het
Foxp4 C T 17: 48,186,796 (GRCm39) R378Q unknown Het
Gdf10 G A 14: 33,654,710 (GRCm39) A406T probably benign Het
Gm11444 A T 11: 85,738,999 (GRCm39) probably benign Het
Gm14443 T C 2: 175,011,497 (GRCm39) I316M probably benign Het
Has3 A T 8: 107,605,435 (GRCm39) Y547F probably benign Het
Hdhd2 A G 18: 77,052,841 (GRCm39) T164A probably benign Het
Hoxb9 T A 11: 96,162,880 (GRCm39) D171E possibly damaging Het
Hpx A G 7: 105,245,603 (GRCm39) Y118H probably damaging Het
Iqsec1 T C 6: 90,647,441 (GRCm39) K858E probably damaging Het
Kifc1 G A 17: 34,103,685 (GRCm39) R195C probably benign Het
Lama2 C A 10: 26,857,594 (GRCm39) R3085L probably damaging Het
Lyst C A 13: 13,791,203 (GRCm39) A22E probably damaging Het
Man2a1 T C 17: 65,057,830 (GRCm39) F1079L probably benign Het
Marco C T 1: 120,412,593 (GRCm39) G303R probably damaging Het
Marveld2 A C 13: 100,733,858 (GRCm39) I536R probably damaging Het
Mcm5 A G 8: 75,848,257 (GRCm39) D502G probably benign Het
Mdga1 A T 17: 30,059,862 (GRCm39) L653Q probably damaging Het
Mical2 A G 7: 111,980,311 (GRCm39) D161G probably benign Het
Mroh2a C T 1: 88,165,213 (GRCm39) R445* probably null Het
Mrpl46 A T 7: 78,431,146 (GRCm39) probably null Het
Nek11 T C 9: 105,170,916 (GRCm39) D373G probably benign Het
Nle1 G A 11: 82,795,068 (GRCm39) S321F probably benign Het
Noxa1 A G 2: 24,980,620 (GRCm39) S130P probably damaging Het
Or10a5 A G 7: 106,635,478 (GRCm39) T39A possibly damaging Het
Or51v14 T A 7: 103,260,618 (GRCm39) *314L probably null Het
Or5l13 A T 2: 87,779,809 (GRCm39) L256H probably damaging Het
Or8b39 T A 9: 37,996,419 (GRCm39) C96S probably damaging Het
Parp3 T G 9: 106,352,021 (GRCm39) probably null Het
Pask A T 1: 93,249,180 (GRCm39) I740N probably benign Het
Pelp1 A G 11: 70,289,347 (GRCm39) F221S probably damaging Het
Pkd1l1 T G 11: 8,824,161 (GRCm39) K1135Q probably benign Het
Plcl2 A T 17: 50,915,109 (GRCm39) Q706L probably damaging Het
Psg26 T C 7: 18,212,264 (GRCm39) T364A probably benign Het
Ptprb C T 10: 116,177,441 (GRCm39) T1047M probably benign Het
Ptpro T A 6: 137,420,592 (GRCm39) V1007D probably damaging Het
Rab37 C T 11: 115,051,177 (GRCm39) A155V probably damaging Het
Rbbp6 A C 7: 122,601,168 (GRCm39) probably benign Het
Rbmxl2 A G 7: 106,809,405 (GRCm39) D230G probably benign Het
Sass6 G T 3: 116,403,945 (GRCm39) K194N possibly damaging Het
Sgpp1 T G 12: 75,782,222 (GRCm39) D39A probably benign Het
Shank3 T C 15: 89,387,351 (GRCm39) V198A probably damaging Het
Sin3a T A 9: 57,012,893 (GRCm39) S591T probably damaging Het
Slc12a6 C T 2: 112,185,503 (GRCm39) T924I possibly damaging Het
Sln T A 9: 53,760,785 (GRCm39) I10N probably benign Het
St3gal3 A T 4: 117,797,268 (GRCm39) M309K probably damaging Het
Syne2 T A 12: 76,016,319 (GRCm39) D3301E probably benign Het
Tgtp2 A G 11: 48,949,919 (GRCm39) S218P probably damaging Het
Tha1 C T 11: 117,760,179 (GRCm39) probably benign Het
Tmem102 A G 11: 69,695,225 (GRCm39) V249A probably benign Het
Top3b G A 16: 16,702,166 (GRCm39) E268K possibly damaging Het
Trip4 T C 9: 65,746,307 (GRCm39) S530G possibly damaging Het
Tut1 T A 19: 8,936,677 (GRCm39) V167E probably damaging Het
Tut4 A T 4: 108,412,903 (GRCm39) S1535C probably damaging Het
Ube2u A T 4: 100,338,833 (GRCm39) M33L probably benign Het
Unc79 T C 12: 102,957,621 (GRCm39) I12T probably damaging Het
Unc79 A T 12: 103,041,178 (GRCm39) D737V probably benign Het
Vmn1r26 A G 6: 57,985,286 (GRCm39) V301A probably benign Het
Vmn1r86 A G 7: 12,836,621 (GRCm39) V35A possibly damaging Het
Vmn2r98 A C 17: 19,286,680 (GRCm39) N393H possibly damaging Het
Vps13b T G 15: 35,878,835 (GRCm39) S2945A probably damaging Het
Whrn C T 4: 63,353,666 (GRCm39) R367H possibly damaging Het
Zfp235 A T 7: 23,839,771 (GRCm39) L133F probably damaging Het
Zfp74 T C 7: 29,635,136 (GRCm39) T191A probably benign Het
Zfp943 A T 17: 22,211,979 (GRCm39) K355I probably damaging Het
Zranb1 T G 7: 132,584,458 (GRCm39) S601R probably damaging Het
Zscan29 A T 2: 121,000,289 (GRCm39) probably null 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
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
Predicted Primers PCR Primer

Sequencing Primer
Posted On 2014-08-01