Incidental Mutation 'R4879:Nckipsd'
ID 375143
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 042488-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.438) question?
Stock # R4879 (G1)
Quality Score 225
Status Validated
Chromosome 9
Chromosomal Location 108685567-108696043 bp(+) (GRCm39)
Type of Mutation unclassified
DNA Base Change (assembly) T to A at 108691114 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000141728 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000035218] [ENSMUST00000194819] [ENSMUST00000195323]
AlphaFold Q9ESJ4
Predicted Effect probably benign
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 0.0898 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.5%
  • 10x: 97.0%
  • 20x: 94.4%
Validation Efficiency 97% (86/89)
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: 78 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca6 T A 11: 110,110,526 (GRCm39) Y541F probably damaging Het
Acot12 T A 13: 91,911,083 (GRCm39) V136E probably benign Het
Aftph A G 11: 20,648,311 (GRCm39) probably null Het
Ambra1 C T 2: 91,603,039 (GRCm39) probably benign Het
Anks6 C T 4: 47,030,795 (GRCm39) G601S probably damaging Het
Ano9 T C 7: 140,690,415 (GRCm39) D73G probably benign Het
Asap3 G A 4: 135,969,975 (GRCm39) D778N probably benign Het
Atp8a2 G T 14: 60,245,918 (GRCm39) Y591* probably null Het
Blk T C 14: 63,613,414 (GRCm39) T365A probably benign Het
C4b G T 17: 34,962,621 (GRCm39) S27Y probably damaging Het
C6 G T 15: 4,833,129 (GRCm39) probably null Het
Ccdc33 T A 9: 57,974,839 (GRCm39) I345F possibly damaging Het
Cetn3 T A 13: 81,940,268 (GRCm39) probably benign Het
Cntn3 T A 6: 102,244,389 (GRCm39) I387L possibly damaging Het
Cog8 A G 8: 107,782,984 (GRCm39) C102R probably damaging Het
Cspg4b T C 13: 113,456,321 (GRCm39) I789T probably benign Het
Cyp2c55 CA C 19: 39,030,522 (GRCm39) probably null Het
Defa40 T A 8: 21,740,380 (GRCm39) L62Q probably damaging Het
Dmxl1 C T 18: 50,022,534 (GRCm39) A1624V probably damaging Het
Dnah1 T G 14: 31,022,705 (GRCm39) E1144A possibly damaging Het
Dnah12 T A 14: 26,439,201 (GRCm39) probably null Het
Dnah2 G A 11: 69,367,517 (GRCm39) T1794I probably damaging Het
Entrep1 T C 19: 23,953,019 (GRCm39) probably null Het
Erbin A T 13: 103,971,282 (GRCm39) M778K probably benign Het
Fbxw10 G T 11: 62,738,573 (GRCm39) A156S probably damaging Het
Flnc T A 6: 29,460,805 (GRCm39) F2632Y probably damaging Het
Frmd4a A G 2: 4,534,628 (GRCm39) K160E probably damaging Het
Glipr1l2 A G 10: 111,943,029 (GRCm39) K295E probably benign Het
Herc1 T A 9: 66,370,119 (GRCm39) C465* probably null Het
Hoxb4 A G 11: 96,211,014 (GRCm39) I205V probably damaging Het
Ikbke GCC G 1: 131,203,004 (GRCm39) probably null Het
Il36a A G 2: 24,106,032 (GRCm39) N29S probably benign Het
Ilk A G 7: 105,391,011 (GRCm39) S292G probably benign Het
Itgb5 G C 16: 33,696,348 (GRCm39) G180R probably damaging Het
Josd1-ps T C 7: 27,648,768 (GRCm39) noncoding transcript Het
Kcnip4 T C 5: 48,567,207 (GRCm39) D120G possibly damaging Het
Kin A G 2: 10,085,455 (GRCm39) D5G probably benign Het
Lrrtm2 C A 18: 35,346,372 (GRCm39) G310V probably damaging Het
Med1 T C 11: 98,046,186 (GRCm39) probably benign Het
Mepce C A 5: 137,783,544 (GRCm39) probably benign Het
Notch3 T A 17: 32,366,937 (GRCm39) Q866L probably benign Het
Or52b4 A T 7: 102,183,962 (GRCm39) T3S probably benign Het
Or5l14 A T 2: 87,793,040 (GRCm39) H65Q possibly damaging Het
Or8k20 A T 2: 86,106,107 (GRCm39) C241* probably null Het
Orai1 T C 5: 123,149,894 (GRCm39) probably benign Het
Pate12 G A 9: 36,344,089 (GRCm39) C24Y probably damaging Het
Pcdhb8 A T 18: 37,489,219 (GRCm39) E299V probably damaging Het
Pcnx4 G A 12: 72,613,959 (GRCm39) D635N probably damaging Het
Pex5 T C 6: 124,375,322 (GRCm39) I567V probably benign Het
Ppfibp2 T C 7: 107,328,390 (GRCm39) S485P probably benign Het
Sbno1 T C 5: 124,542,087 (GRCm39) Y356C probably damaging Het
Sdcbp T C 4: 6,381,056 (GRCm39) I67T possibly damaging Het
Slc5a7 A G 17: 54,583,679 (GRCm39) I537T probably benign Het
Slc66a1 A T 4: 139,029,095 (GRCm39) probably null Het
Smad4 A G 18: 73,774,974 (GRCm39) C442R probably damaging Het
Smpd5 A G 15: 76,179,070 (GRCm39) H146R possibly damaging Het
Snai2 A G 16: 14,524,605 (GRCm39) Y37C probably benign Het
Snapc4 C T 2: 26,256,004 (GRCm39) S840N possibly damaging Het
Stpg2 T C 3: 138,921,134 (GRCm39) I113T probably benign Het
Tbc1d32 T C 10: 55,925,125 (GRCm39) probably null Het
Tfg A T 16: 56,521,520 (GRCm39) S39R probably damaging Het
Thsd7b T A 1: 130,116,236 (GRCm39) S1330T possibly damaging Het
Tnfaip3 T C 10: 18,881,321 (GRCm39) T322A probably benign Het
Tpra1 A G 6: 88,888,691 (GRCm39) Y291C probably damaging Het
Trcg1 A G 9: 57,154,003 (GRCm39) D658G probably damaging Het
Trip4 C T 9: 65,782,304 (GRCm39) V143I probably benign Het
Trp53bp1 T C 2: 121,033,084 (GRCm39) K1691E probably damaging Het
Ttc8 T A 12: 98,908,562 (GRCm39) M77K possibly damaging Het
Tubb2a A T 13: 34,258,572 (GRCm39) M406K probably benign Het
Txnrd1 T A 10: 82,717,751 (GRCm39) probably null Het
Ugt2a3 C A 5: 87,479,144 (GRCm39) R268L probably benign Het
Usp34 T G 11: 23,323,410 (GRCm39) M982R possibly damaging Het
Vmn2r43 T A 7: 8,258,102 (GRCm39) K370N probably benign Het
Vopp1 A T 6: 57,739,355 (GRCm39) probably benign Het
Vps11 A C 9: 44,264,597 (GRCm39) C660G probably benign Het
Wnk1 T C 6: 119,926,338 (GRCm39) H1137R probably damaging Het
Wtap A G 17: 13,188,322 (GRCm39) Y193H probably damaging Het
Zfp462 T A 4: 55,009,444 (GRCm39) V470D probably benign 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
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 2016-03-17