Incidental Mutation 'IGL02711:Nck1'
ID 304563
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Nck1
Ensembl Gene ENSMUSG00000032475
Gene Name non-catalytic region of tyrosine kinase adaptor protein 1
Synonyms 6330586M15Rik, Nck, D230010O13Rik
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # IGL02711
Quality Score
Status
Chromosome 9
Chromosomal Location 100376047-100428187 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 100390673 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glycine at position 12 (D12G)
Ref Sequence ENSEMBL: ENSMUSP00000140143 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000112874] [ENSMUST00000116522] [ENSMUST00000186591] [ENSMUST00000188670]
AlphaFold Q99M51
Predicted Effect probably benign
Transcript: ENSMUST00000112874
SMART Domains Protein: ENSMUSP00000108495
Gene: ENSMUSG00000032475

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 damaging
Transcript: ENSMUST00000116522
AA Change: D12G

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000112221
Gene: ENSMUSG00000032475
AA Change: D12G

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 damaging
Transcript: ENSMUST00000186591
AA Change: D12G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000140971
Gene: ENSMUSG00000032475
AA Change: D12G

DomainStartEndE-ValueType
SH3 5 60 2.5e-18 SMART
SH3 109 164 2.2e-20 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000188670
AA Change: D12G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000140143
Gene: ENSMUSG00000032475
AA Change: D12G

DomainStartEndE-ValueType
SH3 5 60 2.5e-18 SMART
PDB:2CUB|A 99 132 2e-17 PDB
Blast:SH3 109 132 2e-8 BLAST
Coding Region Coverage
Validation Efficiency
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: 41 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcb1a A T 5: 8,773,245 (GRCm39) probably null Het
Adamts10 T A 17: 33,757,246 (GRCm39) M400K probably damaging Het
Adamts17 G A 7: 66,701,788 (GRCm39) probably benign Het
Adh5 A G 3: 138,160,434 (GRCm39) K323E probably damaging Het
Angptl2 T C 2: 33,118,255 (GRCm39) W10R probably benign Het
Arhgap15 T C 2: 44,006,674 (GRCm39) F264L possibly damaging Het
Atp6v1g3 T A 1: 138,211,419 (GRCm39) L33Q probably damaging Het
Baz2b A T 2: 59,747,849 (GRCm39) probably benign Het
Capn11 A G 17: 45,943,341 (GRCm39) F611S probably damaging Het
Cep152 T A 2: 125,405,862 (GRCm39) T1557S possibly damaging Het
Cep76 A T 18: 67,771,406 (GRCm39) S75R probably benign Het
Cps1 A G 1: 67,251,676 (GRCm39) probably benign Het
Dbf4 G T 5: 8,458,235 (GRCm39) A199E probably benign Het
Gldc C T 19: 30,122,546 (GRCm39) probably null Het
Hspa14 G A 2: 3,503,557 (GRCm39) A117V probably benign Het
Igkv4-80 G A 6: 68,993,801 (GRCm39) P30L probably damaging Het
Itga2b A T 11: 102,356,551 (GRCm39) W292R possibly damaging Het
Kansl1 A T 11: 104,226,401 (GRCm39) S982T probably damaging Het
Klhdc7b A T 15: 89,272,246 (GRCm39) K1043* probably null Het
Kmt2a A T 9: 44,735,820 (GRCm39) probably benign Het
Krt86 T C 15: 101,371,543 (GRCm39) Y38H probably damaging Het
Lingo4 T C 3: 94,310,700 (GRCm39) I546T probably benign Het
Lrrk1 A G 7: 65,980,515 (GRCm39) S222P probably damaging Het
Lrrk2 T C 15: 91,570,025 (GRCm39) V178A possibly damaging Het
Maml2 T C 9: 13,531,359 (GRCm39) V191A probably benign Het
Msh3 T C 13: 92,487,819 (GRCm39) T133A probably damaging Het
Nox4 T C 7: 87,046,076 (GRCm39) Y572H probably damaging Het
Nqo1 A T 8: 108,119,563 (GRCm39) L30Q probably damaging Het
Or5ak24 A T 2: 85,261,083 (GRCm39) V30E probably damaging Het
Oxr1 A G 15: 41,517,067 (GRCm39) probably benign Het
Pcare T C 17: 72,056,377 (GRCm39) D1100G probably benign Het
Pcdhb10 A C 18: 37,545,779 (GRCm39) D285A possibly damaging Het
Pclo A G 5: 14,572,322 (GRCm39) N569S unknown Het
Ppfibp1 T A 6: 146,927,736 (GRCm39) Y794* probably null Het
Ripor3 T G 2: 167,848,200 (GRCm39) probably benign Het
Rpe65 C A 3: 159,328,514 (GRCm39) H441N possibly damaging Het
St14 A G 9: 31,001,196 (GRCm39) V845A probably benign Het
Tmem116 T A 5: 121,625,804 (GRCm39) probably benign Het
Tnfrsf11b A T 15: 54,119,532 (GRCm39) D147E probably benign Het
Ttn C A 2: 76,560,466 (GRCm39) G27566* probably null Het
Zscan18 G T 7: 12,509,044 (GRCm39) probably benign 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
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
R4744:Nck1 UTSW 9 100,388,797 (GRCm39) missense probably benign
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
Posted On 2015-04-16