Incidental Mutation 'R1543:Nckipsd'
ID 171936
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 039582-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.438) question?
Stock # R1543 (G1)
Quality Score 225
Status Validated
Chromosome 9
Chromosomal Location 108685567-108696043 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to A at 108689571 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Alanine to Aspartic acid at position 244 (A244D)
Ref Sequence ENSEMBL: ENSMUSP00000035218 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000035218] [ENSMUST00000194819] [ENSMUST00000195323]
AlphaFold Q9ESJ4
Predicted Effect possibly damaging
Transcript: ENSMUST00000035218
AA Change: A244D

PolyPhen 2 Score 0.617 (Sensitivity: 0.87; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000035218
Gene: ENSMUSG00000032598
AA Change: A244D

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 0.1795 question?
Coding Region Coverage
  • 1x: 99.0%
  • 3x: 98.1%
  • 10x: 95.7%
  • 20x: 90.2%
Validation Efficiency 95% (77/81)
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: 77 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1810009J06Rik G A 6: 40,945,138 (GRCm39) V206I probably damaging Het
Abca8b A C 11: 109,865,500 (GRCm39) M319R probably damaging Het
Abcc6 T C 7: 45,665,928 (GRCm39) R231G probably benign Het
Acadm A G 3: 153,635,209 (GRCm39) Y302H probably damaging Het
Acox3 C A 5: 35,760,352 (GRCm39) R423S probably damaging Het
Adam7 T A 14: 68,759,371 (GRCm39) probably benign Het
Adgrb3 A C 1: 25,527,169 (GRCm39) M589R probably benign Het
Adgrl2 A C 3: 148,564,909 (GRCm39) F224V probably damaging Het
Adm2 G C 15: 89,208,282 (GRCm39) G74A probably damaging Het
Aen T A 7: 78,552,370 (GRCm39) V15E probably damaging Het
Ankzf1 T A 1: 75,169,160 (GRCm39) V22D possibly damaging Het
Arap2 T A 5: 62,763,498 (GRCm39) K1549* probably null Het
Arhgef11 G A 3: 87,620,324 (GRCm39) R430H probably benign Het
Asb17 T G 3: 153,550,148 (GRCm39) L60W probably damaging Het
BC035044 T C 6: 128,867,948 (GRCm39) probably benign Het
Bltp2 A G 11: 78,166,000 (GRCm39) T1422A probably benign Het
Cacna2d1 A T 5: 16,471,716 (GRCm39) M254L possibly damaging Het
Celf6 T C 9: 59,511,160 (GRCm39) probably benign Het
Cemip2 G T 19: 21,789,937 (GRCm39) A668S probably benign Het
Coro2b C T 9: 62,333,123 (GRCm39) V120I probably benign Het
Cyp20a1 C A 1: 60,415,353 (GRCm39) probably benign Het
Cyp2c67 C A 19: 39,631,708 (GRCm39) probably benign Het
Dclk3 A G 9: 111,297,122 (GRCm39) H222R probably benign Het
Deaf1 A G 7: 140,904,060 (GRCm39) S109P possibly damaging Het
Dlg5 T A 14: 24,194,516 (GRCm39) D1675V probably damaging Het
Dsg2 T A 18: 20,727,268 (GRCm39) V605E probably benign Het
Dync2i1 T C 12: 116,195,404 (GRCm39) probably benign Het
Frem2 A T 3: 53,479,876 (GRCm39) I1939N possibly damaging Het
Fsip2 A T 2: 82,811,931 (GRCm39) Y2750F possibly damaging Het
Gpr39 T A 1: 125,800,161 (GRCm39) I304N probably damaging Het
Hdac7 G A 15: 97,707,410 (GRCm39) probably benign Het
Hipk1 T C 3: 103,685,480 (GRCm39) H45R probably benign Het
Hyal2 T C 9: 107,447,386 (GRCm39) L13P probably damaging Het
Kdm1b C T 13: 47,221,997 (GRCm39) R479W probably damaging Het
Lilrb4b A G 10: 51,357,517 (GRCm39) T118A probably damaging Het
Lin7a C A 10: 107,247,930 (GRCm39) F78L possibly damaging Het
Lpin3 A G 2: 160,737,310 (GRCm39) D119G possibly damaging Het
Lrp2 G A 2: 69,331,074 (GRCm39) R1661C probably damaging Het
Lrrc45 A G 11: 120,610,844 (GRCm39) K527E probably benign Het
Map10 C T 8: 126,397,611 (GRCm39) P335S probably benign Het
Mast3 A G 8: 71,244,955 (GRCm39) S2P possibly damaging Het
Mbtps1 A G 8: 120,268,808 (GRCm39) probably benign Het
Mms22l T A 4: 24,591,084 (GRCm39) N1018K probably benign Het
Nt5el A T 13: 105,248,877 (GRCm39) R364* probably null Het
Or12k5 C A 2: 36,895,139 (GRCm39) L162F probably damaging Het
Or1j1 A T 2: 36,703,069 (GRCm39) F12I probably damaging Het
Or4k44 A G 2: 111,368,142 (GRCm39) V164A probably benign Het
Or52j3 T A 7: 102,836,421 (GRCm39) F204L probably benign Het
Or8b12c T A 9: 37,715,243 (GRCm39) I12N possibly damaging Het
Pcx A T 19: 4,652,251 (GRCm39) D112V probably damaging Het
Phf14 G A 6: 11,987,682 (GRCm39) probably null Het
Pkd1l1 A G 11: 8,851,200 (GRCm39) I744T probably damaging Het
Ppip5k2 A G 1: 97,668,607 (GRCm39) L560P probably damaging Het
Psmd14 A T 2: 61,615,874 (GRCm39) M248L probably benign Het
Ryr1 T G 7: 28,782,962 (GRCm39) E1884A possibly damaging Het
Scn4b T A 9: 45,061,727 (GRCm39) S204R probably damaging Het
Slc12a1 A T 2: 125,026,777 (GRCm39) M471L possibly damaging Het
Slc17a5 A G 9: 78,468,082 (GRCm39) V236A probably benign Het
Sobp T C 10: 42,897,720 (GRCm39) T622A probably damaging Het
Spata31d1a G T 13: 59,850,056 (GRCm39) R691S probably benign Het
Speg A G 1: 75,398,595 (GRCm39) E2014G probably damaging Het
Steap4 A G 5: 8,025,902 (GRCm39) probably benign Het
Tas2r144 G A 6: 42,192,537 (GRCm39) M92I probably benign Het
Tbc1d5 T C 17: 51,242,560 (GRCm39) Q179R probably benign Het
Tcf25 T C 8: 124,115,326 (GRCm39) Y188H probably benign Het
Tmem200a G A 10: 25,954,518 (GRCm39) probably benign Het
Trappc9 G A 15: 72,897,816 (GRCm39) R377W probably damaging Het
Tssk5 T C 15: 76,256,409 (GRCm39) T337A probably benign Het
Ttc23 T C 7: 67,328,743 (GRCm39) V228A probably benign Het
Tulp1 A T 17: 28,581,645 (GRCm39) probably benign Het
Uqcc3 A G 19: 8,858,117 (GRCm39) F25L probably damaging Het
Vmn2r1 G A 3: 63,996,994 (GRCm39) G217S probably damaging Het
Vmn2r120 C T 17: 57,829,374 (GRCm39) E508K probably benign Het
Wdfy3 C A 5: 101,991,947 (GRCm39) V3451L probably benign Het
Wdr19 G A 5: 65,382,033 (GRCm39) V418I probably benign Het
Xirp2 C T 2: 67,338,383 (GRCm39) T208I probably benign Het
Xpnpep1 A G 19: 52,980,107 (GRCm39) V639A 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
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
Predicted Primers PCR Primer

Sequencing Primer
Posted On 2014-04-13