Incidental Mutation 'R8178:Nck1'
ID 634494
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 067603-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R8178 (G1)
Quality Score 225.009
Status Validated
Chromosome 9
Chromosomal Location 100376047-100428187 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 100379790 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tryptophan to Arginine at position 154 (W154R)
Ref Sequence ENSEMBL: ENSMUSP00000140971 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000112874] [ENSMUST00000116522] [ENSMUST00000186591] [ENSMUST00000188670]
AlphaFold Q99M51
Predicted Effect probably damaging
Transcript: ENSMUST00000112874
AA Change: W90R

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000108495
Gene: ENSMUSG00000032475
AA Change: W90R

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: W154R

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000112221
Gene: ENSMUSG00000032475
AA Change: W154R

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: W154R

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000140971
Gene: ENSMUSG00000032475
AA Change: W154R

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 0.9233 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.6%
  • 20x: 99.0%
Validation Efficiency 99% (68/69)
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: 71 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4921513D11Rik A G 17: 79,935,699 (GRCm39) I276V Het
Acsm5 C A 7: 119,141,618 (GRCm39) H538N probably damaging Het
Adamts17 A G 7: 66,499,464 (GRCm39) I4V possibly damaging Het
Adgrg3 T C 8: 95,761,675 (GRCm39) V146A probably damaging Het
Ankrd52 T A 10: 128,225,170 (GRCm39) L877Q probably damaging Het
Aox3 A T 1: 58,189,481 (GRCm39) D394V possibly damaging Het
Arhgap45 G A 10: 79,863,706 (GRCm39) A819T probably damaging Het
Arhgef4 A G 1: 34,761,983 (GRCm39) E413G unknown Het
Arhgef5 T C 6: 43,252,119 (GRCm39) S957P probably benign Het
Arsk G T 13: 76,239,861 (GRCm39) T114K probably damaging Het
Bpifb2 T C 2: 153,733,876 (GRCm39) V406A probably damaging Het
Cbr3 C A 16: 93,480,393 (GRCm39) Q61K probably benign Het
Ccdc73 C T 2: 104,821,557 (GRCm39) S502L probably benign Het
Cdhr3 A T 12: 33,098,931 (GRCm39) probably null Het
Cep170b T A 12: 112,705,719 (GRCm39) M1159K possibly damaging Het
Cep295 A T 9: 15,244,836 (GRCm39) S1159T Het
Cit C T 5: 116,107,131 (GRCm39) R1088W probably damaging Het
Col16a1 A T 4: 129,947,270 (GRCm39) H205L unknown Het
Cpt1c T G 7: 44,609,077 (GRCm39) H748P probably damaging Het
Cstdc4 T G 16: 36,006,772 (GRCm39) Y35* probably null Het
Dcaf8 A T 1: 172,013,886 (GRCm39) D359V probably benign Het
Dcstamp A G 15: 39,618,422 (GRCm39) Y277C probably damaging Het
Dnah10 A G 5: 124,832,790 (GRCm39) K898R probably benign Het
Dnah6 T A 6: 73,037,208 (GRCm39) T3345S probably benign Het
Dpp6 A T 5: 27,803,815 (GRCm39) N254Y probably damaging Het
F2 A T 2: 91,460,618 (GRCm39) probably null Het
Fam216b G C 14: 78,322,504 (GRCm39) H67D possibly damaging Het
Fbxl17 A C 17: 63,794,967 (GRCm39) probably null Het
Gas2 T A 7: 51,547,026 (GRCm39) M59K probably damaging Het
Glud1 G A 14: 34,065,664 (GRCm39) G554D probably damaging Het
Gys2 C T 6: 142,402,138 (GRCm39) G234R probably damaging Het
Ifngr1 A G 10: 19,485,241 (GRCm39) I413M probably benign Het
Inpp5a C T 7: 139,118,153 (GRCm39) R236C probably damaging Het
Kcnip3 A G 2: 127,323,934 (GRCm39) S32P probably benign Het
Lingo3 T A 10: 80,670,464 (GRCm39) T489S possibly damaging Het
Lrpprc A G 17: 85,079,575 (GRCm39) L227P probably damaging Het
Morn1 A G 4: 155,213,160 (GRCm39) Q356R probably benign Het
Naxd A C 8: 11,561,987 (GRCm39) K275Q probably benign Het
Nbeal1 G C 1: 60,276,310 (GRCm39) V684L probably benign Het
Or10d5 G A 9: 39,861,708 (GRCm39) R120C probably benign Het
Or1ad8 T A 11: 50,898,437 (GRCm39) C213S probably damaging Het
Or5aq6 C T 2: 86,923,220 (GRCm39) V174M possibly damaging Het
Or7e175 T C 9: 20,048,571 (GRCm39) V53A possibly damaging Het
Pdxk C T 10: 78,289,338 (GRCm39) V38M probably damaging Het
Peg10 GC GCTCC 6: 4,756,452 (GRCm39) probably benign Het
Pes1 T C 11: 3,927,718 (GRCm39) S482P probably benign Het
Pglyrp1 T A 7: 18,618,657 (GRCm39) F3I unknown Het
Pira13 T C 7: 3,824,260 (GRCm39) K631R unknown Het
Plce1 T A 19: 38,761,423 (GRCm39) F2092I possibly damaging Het
Pms1 A G 1: 53,246,505 (GRCm39) S345P probably benign Het
Pom121l12 C A 11: 14,550,011 (GRCm39) P239H probably damaging Het
Prdm2 A G 4: 142,859,018 (GRCm39) I1424T probably benign Het
Prmt6 A G 3: 110,158,140 (GRCm39) Y50H probably damaging Het
Rbm39 T C 2: 155,996,195 (GRCm39) I397V probably benign Het
Rnf157 A G 11: 116,238,307 (GRCm39) V519A possibly damaging Het
Sec23a T C 12: 59,053,980 (GRCm39) E6G possibly damaging Het
Shank1 T C 7: 43,962,748 (GRCm39) probably null Het
Slfn3 A G 11: 83,105,505 (GRCm39) I378V probably benign Het
Smn1 T A 13: 100,267,303 (GRCm39) probably null Het
Snd1 T C 6: 28,874,975 (GRCm39) F632S possibly damaging Het
Sun5 T C 2: 153,698,131 (GRCm39) probably null Het
Tial1 T C 7: 128,046,614 (GRCm39) R209G probably benign Het
Trhde T C 10: 114,244,598 (GRCm39) I963V possibly damaging Het
Tssc4 G T 7: 142,623,932 (GRCm39) R80L possibly damaging Het
Ttn A T 2: 76,642,852 (GRCm39) N13261K probably damaging Het
Ugdh A T 5: 65,581,005 (GRCm39) probably null Het
Vmn1r218 A T 13: 23,321,472 (GRCm39) E273V probably benign Het
Vmn2r92 T A 17: 18,386,988 (GRCm39) F109Y possibly damaging Het
Zcchc7 A G 4: 44,931,398 (GRCm39) S196G probably benign Het
Zfp788 T A 7: 41,298,335 (GRCm39) C324S probably damaging Het
Zfp976 T C 7: 42,262,959 (GRCm39) T294A 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
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
R4744:Nck1 UTSW 9 100,388,797 (GRCm39) missense probably benign
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'- ACTCTGGGTCATTTTCCGGC -3'
(R):5'- ATAGCTTTGTTGATCCAGGAGAAC -3'

Sequencing Primer
(F):5'- GGGTCATTTTCCGGCTTTTCAATAAC -3'
(R):5'- TGATCCAGGAGAACGTCTCTATGAC -3'
Posted On 2020-07-13