Incidental Mutation 'R4744:Nck1'
ID 356588
Institutional Source Beutler Lab
Gene Symbol Nck1
Ensembl Gene ENSMUSG00000032475
Gene Name non-catalytic region of tyrosine kinase adaptor protein 1
Synonyms 6330586M15Rik, Nck, D230010O13Rik
MMRRC Submission 042027-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R4744 (G1)
Quality Score 225
Status Validated
Chromosome 9
Chromosomal Location 100376047-100428187 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 100388797 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Valine at position 6 (I6V)
Ref Sequence ENSEMBL: ENSMUSP00000108495 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000112874] [ENSMUST00000116522] [ENSMUST00000186591] [ENSMUST00000188670]
AlphaFold Q99M51
Predicted Effect probably benign
Transcript: ENSMUST00000112874
AA Change: I6V

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000108495
Gene: ENSMUSG00000032475
AA Change: I6V

DomainStartEndE-ValueType
SH3 45 100 3.58e-18 SMART
SH3 129 187 2.65e-21 SMART
SH2 216 298 1.6e-31 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000116522
SMART Domains Protein: ENSMUSP00000112221
Gene: ENSMUSG00000032475

DomainStartEndE-ValueType
SH3 5 60 3.99e-16 SMART
SH3 109 164 3.58e-18 SMART
SH3 193 251 2.65e-21 SMART
SH2 280 362 1.6e-31 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000186591
SMART Domains Protein: ENSMUSP00000140971
Gene: ENSMUSG00000032475

DomainStartEndE-ValueType
SH3 5 60 2.5e-18 SMART
SH3 109 164 2.2e-20 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000188670
SMART Domains Protein: ENSMUSP00000140143
Gene: ENSMUSG00000032475

DomainStartEndE-ValueType
SH3 5 60 2.5e-18 SMART
PDB:2CUB|A 99 132 2e-17 PDB
Blast:SH3 109 132 2e-8 BLAST
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.5%
  • 10x: 96.9%
  • 20x: 94.3%
Validation Efficiency 99% (82/83)
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 one of the signaling and transforming proteins containing Src homology 2 and 3 (SH2 and SH3) domains. It is located in the cytoplasm and is an adaptor protein involved in transducing signals from receptor tyrosine kinases to downstream signal recipients such as RAS. Alternatively spliced transcript variants encoding different isoforms have been found. [provided by RefSeq, Jun 2010]
PHENOTYPE: Mice homozygous for disruption of this gene display no abnormal phenotype. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 70 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930519G04Rik T C 5: 115,017,617 (GRCm39) S143P possibly damaging Het
4933427D14Rik T C 11: 72,066,365 (GRCm39) K614E probably damaging Het
Aatk A G 11: 119,906,948 (GRCm39) M155T possibly damaging Het
Acvr2b T C 9: 119,260,328 (GRCm39) L333P probably damaging Het
Adam22 T C 5: 8,128,699 (GRCm39) E865G probably damaging Het
Add2 A G 6: 86,087,870 (GRCm39) S358G probably damaging Het
Agap2 T C 10: 126,926,072 (GRCm39) probably null Het
Alkbh8 G A 9: 3,344,604 (GRCm39) W49* probably null Het
AU015228 A T 2: 129,942,549 (GRCm39) noncoding transcript Het
Bank1 G T 3: 135,953,450 (GRCm39) R102S probably benign Het
Brap T A 5: 121,800,193 (GRCm39) D27E probably damaging Het
Cyb5r2 G T 7: 107,349,484 (GRCm39) H276N possibly damaging Het
Dhh A G 15: 98,792,139 (GRCm39) F290L possibly damaging Het
Dhrs7 T A 12: 72,699,025 (GRCm39) N319I possibly damaging Het
Ebpl A G 14: 61,597,682 (GRCm39) V53A probably damaging Het
Eif3j2 TGCCGCCGCCGCCGCCGCCGCCGCCGCC TGCCGCCGCCGCCGCCGCCGCCGCC 18: 43,610,782 (GRCm39) probably benign Het
Etnk1 A C 6: 143,132,319 (GRCm39) N220T probably damaging Het
F11r T A 1: 171,288,166 (GRCm39) V64D probably benign Het
Fam171a1 T C 2: 3,225,946 (GRCm39) S360P probably damaging Het
Fignl1 A G 11: 11,751,585 (GRCm39) M490T probably damaging Het
Fpr-rs7 A T 17: 20,334,265 (GRCm39) M75K probably benign Het
Fzd7 T A 1: 59,523,595 (GRCm39) F493I possibly damaging Het
Galnt14 G T 17: 73,814,828 (GRCm39) P412T probably damaging Het
Gcg T A 2: 62,308,975 (GRCm39) S60C probably damaging Het
Ggt1 A G 10: 75,421,733 (GRCm39) K527E probably benign Het
Gm16551 T A 9: 74,758,153 (GRCm39) noncoding transcript Het
Gm9972 A G 11: 42,927,517 (GRCm39) K55E unknown Het
Gpr141 T A 13: 19,935,884 (GRCm39) D297V probably benign Het
Grin2b G A 6: 135,755,697 (GRCm39) S539L probably damaging Het
Hhipl1 A T 12: 108,286,238 (GRCm39) N515I possibly damaging Het
Hmcn1 T G 1: 150,453,363 (GRCm39) E5317D probably damaging Het
Hsf5 T A 11: 87,513,617 (GRCm39) N227K probably benign Het
Igfn1 A T 1: 135,910,196 (GRCm39) D129E probably benign Het
Invs T C 4: 48,397,609 (GRCm39) F339L probably damaging Het
Jak2 T A 19: 29,239,656 (GRCm39) S17T probably benign Het
Mdga2 T A 12: 66,844,501 (GRCm39) I166F probably benign Het
Neb T C 2: 52,040,589 (GRCm39) D6624G probably benign Het
Nmur2 A G 11: 55,931,661 (GRCm39) Y17H probably benign Het
Nwd2 T C 5: 63,964,310 (GRCm39) L1298P probably damaging Het
Ocel1 A G 8: 71,825,397 (GRCm39) E161G probably damaging Het
Or1j16 A T 2: 36,530,991 (GRCm39) probably null Het
Pabpc2 A G 18: 39,907,881 (GRCm39) Y382C probably benign Het
Panx1 A G 9: 14,921,594 (GRCm39) probably benign Het
Pdhx A T 2: 102,872,641 (GRCm39) V147D probably benign Het
Pigz A T 16: 31,764,151 (GRCm39) H403L probably damaging Het
Pilra T C 5: 137,833,769 (GRCm39) probably null Het
Rbm47 T C 5: 66,184,036 (GRCm39) D189G probably damaging Het
Rhobtb2 A G 14: 70,031,451 (GRCm39) L558P probably damaging Het
Scarf2 G A 16: 17,621,380 (GRCm39) R322H probably damaging Het
Septin3 T C 15: 82,174,658 (GRCm39) probably null Het
Sirt2 T C 7: 28,476,438 (GRCm39) F26L probably damaging Het
Slc1a1 A T 19: 28,871,925 (GRCm39) T133S probably benign Het
Slc1a2 A G 2: 102,568,214 (GRCm39) I84V probably benign Het
Slc28a2b A T 2: 122,353,286 (GRCm39) K489* probably null Het
Slc6a9 A T 4: 117,725,092 (GRCm39) Q562L probably benign Het
Snx29 C T 16: 11,167,773 (GRCm39) Q25* probably null Het
St6galnac6 A G 2: 32,508,555 (GRCm39) I231V probably damaging Het
Stard9 A G 2: 120,526,604 (GRCm39) T954A probably benign Het
Sufu A G 19: 46,472,069 (GRCm39) M443V possibly damaging Het
Sv2b T C 7: 74,856,266 (GRCm39) D8G probably benign Het
Tapbpl G A 6: 125,205,248 (GRCm39) R233W probably damaging Het
Tex10 A G 4: 48,469,990 (GRCm39) L25S probably benign Het
Trp53bp1 A T 2: 121,041,794 (GRCm39) V1254D probably damaging Het
Ugt3a1 T A 15: 9,310,639 (GRCm39) I307N probably benign Het
Unc13c T C 9: 73,839,126 (GRCm39) D575G probably damaging Het
Usf2 A T 7: 30,654,197 (GRCm39) D166E probably damaging Het
Usp25 T A 16: 76,911,877 (GRCm39) L969M probably damaging Het
Usp32 G A 11: 84,885,219 (GRCm39) P1276L probably damaging Het
Vmn2r8 T A 5: 108,956,447 (GRCm39) E58D probably benign Het
Zfp462 G T 4: 55,011,598 (GRCm39) C40F probably damaging Het
Other mutations in Nck1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01335:Nck1 APN 9 100,379,790 (GRCm39) missense probably damaging 1.00
IGL01608:Nck1 APN 9 100,379,440 (GRCm39) missense probably benign
IGL02711:Nck1 APN 9 100,390,673 (GRCm39) missense probably damaging 1.00
Cuchillo UTSW 9 100,379,790 (GRCm39) missense probably damaging 1.00
Tenedor UTSW 9 100,390,580 (GRCm39) missense probably damaging 1.00
R0211:Nck1 UTSW 9 100,379,820 (GRCm39) missense probably damaging 1.00
R0211:Nck1 UTSW 9 100,379,820 (GRCm39) missense probably damaging 1.00
R1549:Nck1 UTSW 9 100,379,925 (GRCm39) missense probably benign
R2128:Nck1 UTSW 9 100,379,600 (GRCm39) splice site probably null
R2314:Nck1 UTSW 9 100,380,003 (GRCm39) missense probably damaging 1.00
R8178:Nck1 UTSW 9 100,379,790 (GRCm39) missense probably damaging 1.00
R8674:Nck1 UTSW 9 100,390,580 (GRCm39) missense probably damaging 1.00
R9100:Nck1 UTSW 9 100,377,561 (GRCm39) missense probably damaging 0.99
R9513:Nck1 UTSW 9 100,379,369 (GRCm39) missense probably benign 0.33
Predicted Primers PCR Primer
(F):5'- TAACAGCAGTGAAAATATCATCGCC -3'
(R):5'- TGAGTTACTTGTTCCACGGG -3'

Sequencing Primer
(F):5'- GCAGTGAAAATATCATCGCCATTTAC -3'
(R):5'- AGAGAAGCCTCAGTTTTGAAAAC -3'
Posted On 2015-11-11