Incidental Mutation 'R4755:Nckipsd'
ID 357930
Institutional Source Beutler Lab
Gene Symbol Nckipsd
Ensembl Gene ENSMUSG00000032598
Gene Name NCK interacting protein with SH3 domain
Synonyms AF3P21, Wasbp, SPIN90, DIP1, WISH, ORF1
MMRRC Submission 042033-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.366) question?
Stock # R4755 (G1)
Quality Score 225
Status Validated
Chromosome 9
Chromosomal Location 108808368-108818844 bp(+) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) C to A at 108814739 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Alanine to Glutamic Acid at position 513 (A513E)
Ref Sequence ENSEMBL: ENSMUSP00000035218 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000035218] [ENSMUST00000194819] [ENSMUST00000195323]
AlphaFold Q9ESJ4
Predicted Effect probably benign
Transcript: ENSMUST00000035218
AA Change: A513E

PolyPhen 2 Score 0.280 (Sensitivity: 0.91; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000035218
Gene: ENSMUSG00000032598
AA Change: A513E

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 0.0827 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.7%
  • 10x: 97.3%
  • 20x: 95.3%
Validation Efficiency 96% (112/117)
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: 113 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930449A18Rik T A 3: 59,825,859 (GRCm38) noncoding transcript Het
Accs T C 2: 93,841,337 (GRCm38) E236G probably damaging Het
Agrn C T 4: 156,173,522 (GRCm38) probably benign Het
Ahi1 A G 10: 21,055,047 (GRCm38) I929V possibly damaging Het
Akap5 C A 12: 76,327,807 (GRCm38) C4* probably null Het
Amotl2 A T 9: 102,720,480 (GRCm38) H146L probably damaging Het
Ank1 A G 8: 23,104,974 (GRCm38) N666S probably damaging Het
Atp10d A T 5: 72,246,166 (GRCm38) T373S probably benign Het
Bpifb9b T A 2: 154,319,694 (GRCm38) M582K probably benign Het
Brca2 T A 5: 150,559,987 (GRCm38) probably null Het
C130079G13Rik C T 3: 59,936,314 (GRCm38) A143V probably benign Het
C330021F23Rik A T 8: 3,583,922 (GRCm38) S8C probably damaging Het
Ccdc149 A G 5: 52,404,151 (GRCm38) V229A probably damaging Het
Cdk5rap2 A G 4: 70,238,425 (GRCm38) S1617P probably damaging Het
Cenpk A T 13: 104,249,512 (GRCm38) H305L probably benign Het
Cenpk A T 13: 104,230,871 (GRCm38) M37L probably benign Het
Ces5a C A 8: 93,535,677 (GRCm38) A11S probably benign Het
Cfap65 T C 1: 74,928,361 (GRCm38) E186G probably damaging Het
Cfh T A 1: 140,088,808 (GRCm38) I593F probably damaging Het
Clstn2 C T 9: 97,445,673 (GRCm38) V961I probably benign Het
Cog5 T A 12: 31,869,406 (GRCm38) probably null Het
Col4a4 T C 1: 82,541,174 (GRCm38) D100G unknown Het
Cyp3a41a T C 5: 145,715,506 (GRCm38) D61G probably damaging Het
Dnah10 A G 5: 124,747,745 (GRCm38) N655S probably benign Het
Dnaic1 C G 4: 41,610,269 (GRCm38) T295R probably damaging Het
Dnajc6 C T 4: 101,550,799 (GRCm38) A44V probably damaging Het
Eif4enif1 A T 11: 3,244,016 (GRCm38) D960V probably damaging Het
Fam167b C T 4: 129,578,342 (GRCm38) G12R probably damaging Het
Fam20b A T 1: 156,687,496 (GRCm38) Y266* probably null Het
Fer1l6 T A 15: 58,640,211 (GRCm38) V1509D probably benign Het
Fhad1 A T 4: 141,928,483 (GRCm38) I105N probably damaging Het
Fmo2 T C 1: 162,888,805 (GRCm38) D71G probably damaging Het
Folr2 T C 7: 101,843,799 (GRCm38) T6A possibly damaging Het
Fry A C 5: 150,398,254 (GRCm38) E1018A probably damaging Het
Gas2l2 A G 11: 83,429,367 (GRCm38) I21T probably damaging Het
Gfra1 T C 19: 58,453,244 (GRCm38) Y85C probably damaging Het
Gm9117 T C 3: 93,938,786 (GRCm38) probably null Het
Gpld1 T A 13: 24,979,692 (GRCm38) Y44* probably null Het
Gpld1 A T 13: 24,979,688 (GRCm38) Y43F probably benign Het
Grid2 A G 6: 63,908,988 (GRCm38) T123A probably benign Het
Grina T C 15: 76,249,242 (GRCm38) L305P probably damaging Het
Gucy1a1 G A 3: 82,094,795 (GRCm38) A659V probably benign Het
H2-T10 T A 17: 36,118,945 (GRCm38) K319* probably null Het
Hey2 A T 10: 30,834,304 (GRCm38) V151E probably benign Het
Ighv1-69 G A 12: 115,623,558 (GRCm38) T13I probably benign Het
Il1rap C A 16: 26,722,782 (GRCm38) A591E probably benign Het
Ildr1 T C 16: 36,722,021 (GRCm38) L261P probably benign Het
Jak1 A G 4: 101,174,157 (GRCm38) Y463H probably damaging Het
Lrp1b T C 2: 41,269,273 (GRCm38) I1666V probably benign Het
Lrp1b T A 2: 41,471,016 (GRCm38) T592S probably benign Het
Lrrc36 A G 8: 105,452,144 (GRCm38) T445A possibly damaging Het
Ly9 G A 1: 171,607,238 (GRCm38) S29F probably damaging Het
Mapk7 A C 11: 61,490,843 (GRCm38) C32W probably damaging Het
March10 C T 11: 105,364,476 (GRCm38) probably benign Het
Mier2 A T 10: 79,549,197 (GRCm38) M119K probably damaging Het
Mpv17 A T 5: 31,145,982 (GRCm38) C59* probably null Het
Mrpl27 G A 11: 94,653,833 (GRCm38) probably benign Het
Myo18b G A 5: 112,874,474 (GRCm38) Q351* probably null Het
Myo1a A G 10: 127,715,688 (GRCm38) I704M probably damaging Het
Nadsyn1 A G 7: 143,806,913 (GRCm38) C373R probably damaging Het
Neb T C 2: 52,220,209 (GRCm38) D209G probably damaging Het
Nkapl T A 13: 21,468,287 (GRCm38) Q52L unknown Het
Nptx2 G A 5: 144,546,440 (GRCm38) S126N probably benign Het
Olfr13 G A 6: 43,174,043 (GRCm38) S19N probably benign Het
Olfr653 T A 7: 104,580,061 (GRCm38) Y138* probably null Het
Olfr829 A T 9: 18,857,180 (GRCm38) H185L probably benign Het
Olfr917 A G 9: 38,665,832 (GRCm38) V4A probably benign Het
Pclo A T 5: 14,714,348 (GRCm38) R4278S unknown Het
Pcnx T G 12: 81,950,294 (GRCm38) L988R probably damaging Het
Prl2c5 C A 13: 13,189,385 (GRCm38) N75K probably benign Het
Prpf19 T G 19: 10,897,790 (GRCm38) probably benign Het
Ralgapa1 A G 12: 55,712,748 (GRCm38) S997P probably damaging Het
Rangap1 T C 15: 81,712,917 (GRCm38) T226A probably benign Het
Rimklb G A 6: 122,456,406 (GRCm38) L262F probably damaging Het
Rnf169 A G 7: 99,925,723 (GRCm38) M555T probably benign Het
Rp1l1 A T 14: 64,030,070 (GRCm38) D1035V probably benign Het
Scd2 T A 19: 44,301,352 (GRCm38) L262Q probably damaging Het
Scgb2b12 T A 7: 32,325,531 (GRCm38) M84L probably benign Het
Shroom3 G T 5: 92,943,086 (GRCm38) V1151F probably damaging Het
Sipa1l1 G A 12: 82,372,386 (GRCm38) V613I possibly damaging Het
Slc25a23 T A 17: 57,052,794 (GRCm38) D67V possibly damaging Het
Slc25a39 C T 11: 102,406,666 (GRCm38) probably benign Het
Slc4a10 T A 2: 62,296,988 (GRCm38) F895Y probably damaging Het
Slc5a4a A C 10: 76,186,564 (GRCm38) K578Q probably benign Het
Slc6a13 G A 6: 121,325,049 (GRCm38) G197S probably damaging Het
Smarca2 A T 19: 26,654,483 (GRCm38) E566V possibly damaging Het
Sorbs3 A T 14: 70,184,099 (GRCm38) N594K probably benign Het
Spata22 A T 11: 73,345,756 (GRCm38) D296V probably damaging Het
Sphk2 G A 7: 45,713,634 (GRCm38) A11V possibly damaging Het
Spp1 A T 5: 104,435,215 (GRCm38) probably benign Het
Strn3 T A 12: 51,610,216 (GRCm38) I760L possibly damaging Het
Syk A T 13: 52,641,986 (GRCm38) Y539F probably benign Het
Thsd7b T A 1: 130,210,264 (GRCm38) Y1560N probably benign Het
Tmod2 C A 9: 75,597,212 (GRCm38) E42* probably null Het
Tom1l1 T C 11: 90,685,116 (GRCm38) E30G probably damaging Het
Trav10 G A 14: 53,506,061 (GRCm38) A40T probably benign Het
Trav14-2 G A 14: 53,640,780 (GRCm38) probably benign Het
Tril T A 6: 53,818,464 (GRCm38) E591V probably damaging Het
Trp53bp1 T A 2: 121,228,606 (GRCm38) R179* probably null Het
Tspoap1 A T 11: 87,771,663 (GRCm38) D562V possibly damaging Het
Usp44 A T 10: 93,846,906 (GRCm38) H406L probably damaging Het
Vangl1 A G 3: 102,158,292 (GRCm38) I509T probably benign Het
Vax2 T G 6: 83,711,397 (GRCm38) L34W probably damaging Het
Vmn1r55 A T 7: 5,147,026 (GRCm38) C133S probably damaging Het
Vmn2r8 T A 5: 108,801,700 (GRCm38) D427V probably benign Het
Vwde A G 6: 13,205,852 (GRCm38) I232T possibly damaging Het
Wnk1 C A 6: 119,963,470 (GRCm38) A769S probably damaging Het
Xpo4 A C 14: 57,618,181 (GRCm38) S264A probably benign Het
Zfp330 A T 8: 82,769,386 (GRCm38) C75* probably null Het
Zfp526 T A 7: 25,225,639 (GRCm38) L441Q probably benign Het
Zfp607b T G 7: 27,703,505 (GRCm38) L462R probably damaging Het
Zfp719 T A 7: 43,590,793 (GRCm38) F602I probably damaging Het
Other mutations in Nckipsd
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00088:Nckipsd APN 9 108,814,969 (GRCm38) missense probably benign 0.07
IGL01601:Nckipsd APN 9 108,813,955 (GRCm38) missense probably benign 0.00
IGL01809:Nckipsd APN 9 108,817,554 (GRCm38) missense probably damaging 1.00
IGL03229:Nckipsd APN 9 108,811,614 (GRCm38) missense probably benign
R0714:Nckipsd UTSW 9 108,814,134 (GRCm38) unclassified probably benign
R1323:Nckipsd UTSW 9 108,812,579 (GRCm38) missense probably damaging 1.00
R1323:Nckipsd UTSW 9 108,812,579 (GRCm38) missense probably damaging 1.00
R1543:Nckipsd UTSW 9 108,812,372 (GRCm38) missense possibly damaging 0.62
R1958:Nckipsd UTSW 9 108,814,664 (GRCm38) splice site probably null
R2127:Nckipsd UTSW 9 108,811,733 (GRCm38) missense probably benign
R3697:Nckipsd UTSW 9 108,811,121 (GRCm38) missense probably damaging 1.00
R3698:Nckipsd UTSW 9 108,811,121 (GRCm38) missense probably damaging 1.00
R3921:Nckipsd UTSW 9 108,814,076 (GRCm38) missense possibly damaging 0.81
R4879:Nckipsd UTSW 9 108,813,915 (GRCm38) unclassified probably benign
R5796:Nckipsd UTSW 9 108,811,614 (GRCm38) missense probably benign
R5891:Nckipsd UTSW 9 108,808,609 (GRCm38) missense probably damaging 1.00
R5943:Nckipsd UTSW 9 108,812,236 (GRCm38) missense possibly damaging 0.54
R5994:Nckipsd UTSW 9 108,813,977 (GRCm38) missense probably benign 0.00
R6144:Nckipsd UTSW 9 108,812,386 (GRCm38) missense probably damaging 1.00
R6403:Nckipsd UTSW 9 108,811,683 (GRCm38) missense possibly damaging 0.71
R7413:Nckipsd UTSW 9 108,814,081 (GRCm38) missense probably benign 0.30
R7676:Nckipsd UTSW 9 108,814,954 (GRCm38) missense probably damaging 1.00
R7702:Nckipsd UTSW 9 108,814,017 (GRCm38) nonsense probably null
R7893:Nckipsd UTSW 9 108,815,389 (GRCm38) missense probably damaging 1.00
R8257:Nckipsd UTSW 9 108,814,928 (GRCm38) missense probably benign 0.10
R9327:Nckipsd UTSW 9 108,814,500 (GRCm38) missense possibly damaging 0.49
R9353:Nckipsd UTSW 9 108,814,272 (GRCm38) missense probably damaging 0.99
R9484:Nckipsd UTSW 9 108,812,638 (GRCm38) missense probably damaging 1.00
Y4335:Nckipsd UTSW 9 108,817,545 (GRCm38) missense probably damaging 1.00
Z1088:Nckipsd UTSW 9 108,814,677 (GRCm38) missense probably benign 0.05
Predicted Primers PCR Primer

Sequencing Primer
Posted On 2015-11-11