Incidental Mutation 'IGL01906:Csk'
ID179658
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Csk
Ensembl Gene ENSMUSG00000032312
Gene Namec-src tyrosine kinase
Synonyms
Accession Numbers
Is this an essential gene? Essential (E-score: 1.000) question?
Stock #IGL01906
Quality Score
Status
Chromosome9
Chromosomal Location57626646-57653631 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 57629021 bp
ZygosityHeterozygous
Amino Acid Change Isoleucine to Threonine at position 201 (I201T)
Ref Sequence ENSEMBL: ENSMUSP00000150984 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000034863] [ENSMUST00000215396] [ENSMUST00000216934] [ENSMUST00000216979] [ENSMUST00000217128] [ENSMUST00000217314]
Predicted Effect probably damaging
Transcript: ENSMUST00000034863
AA Change: I201T

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000034863
Gene: ENSMUSG00000032312
AA Change: I201T

DomainStartEndE-ValueType
SH3 12 69 1.09e-17 SMART
SH2 80 162 1.96e-35 SMART
TyrKc 195 440 2.37e-130 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000213660
Predicted Effect probably damaging
Transcript: ENSMUST00000215396
AA Change: I201T

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000215958
Predicted Effect probably benign
Transcript: ENSMUST00000216934
Predicted Effect probably benign
Transcript: ENSMUST00000216979
Predicted Effect probably benign
Transcript: ENSMUST00000217128
Predicted Effect probably damaging
Transcript: ENSMUST00000217314
AA Change: I201T

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
Coding Region Coverage
Validation Efficiency
MGI Phenotype PHENOTYPE: Homozygotes for targeted null mutations exhibit growth retardation, neural tube defects, and developmental arrest at the 10-12 somite stage. Mutants die between embryonic days nine and ten. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 38 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca13 A T 11: 9,216,225 Q24L probably damaging Het
Adam1b A T 5: 121,501,475 N502K probably benign Het
Adam6a T A 12: 113,544,331 M108K probably benign Het
Akr1b10 A G 6: 34,387,811 K69R probably benign Het
Ap5b1 T A 19: 5,570,979 L809* probably null Het
Asxl3 A T 18: 22,522,281 H1116L probably benign Het
Birc6 A G 17: 74,638,358 T2794A probably damaging Het
Bst1 T C 5: 43,837,519 F248L probably damaging Het
C130026I21Rik A G 1: 85,254,186 probably benign Het
Cep120 A T 18: 53,714,912 V625E probably benign Het
Cgnl1 T C 9: 71,724,567 M501V probably benign Het
Col19a1 T A 1: 24,317,429 D661V probably damaging Het
Copb2 A T 9: 98,580,330 E456V probably benign Het
Cttnbp2 G T 6: 18,378,376 S977* probably null Het
Ddr2 A G 1: 169,982,099 W770R probably damaging Het
Dnah7b T C 1: 46,175,453 I1126T probably damaging Het
Dusp27 A C 1: 166,099,523 L840R probably damaging Het
Ephb4 A T 5: 137,361,194 E342V probably damaging Het
Erc2 T A 14: 28,141,306 L496Q probably damaging Het
Faim2 G A 15: 99,514,433 T140I probably damaging Het
Gm21738 G A 14: 19,416,979 S144L probably benign Het
Haus3 A C 5: 34,168,323 probably benign Het
Hmcn1 T C 1: 150,667,887 T2846A probably benign Het
Mto1 T C 9: 78,464,931 V561A probably benign Het
Myb T C 10: 21,152,634 Y110C probably damaging Het
Olfr1280 T C 2: 111,315,901 C141R probably damaging Het
Plcd3 T C 11: 103,076,856 Y420C probably damaging Het
Plk4 G T 3: 40,810,381 M603I probably null Het
Scgb1b24 T C 7: 33,744,113 C66R probably damaging Het
Sec23a T C 12: 59,007,044 Y56C probably damaging Het
Setd1b C A 5: 123,157,667 D1099E unknown Het
Sh2d7 G A 9: 54,539,466 probably benign Het
Slc30a10 A T 1: 185,456,396 K221* probably null Het
Slc5a1 T C 5: 33,154,653 L463P probably damaging Het
Strc T C 2: 121,377,634 T419A probably benign Het
Ttc39a T C 4: 109,421,394 M82T probably benign Het
Vmn2r-ps159 C T 4: 156,338,254 noncoding transcript Het
Vps13b T C 15: 35,639,847 probably benign Het
Other mutations in Csk
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02558:Csk APN 9 57630263 missense probably benign
IGL02723:Csk APN 9 57631389 utr 5 prime probably benign
Clorets UTSW 9 57630302 missense probably benign 0.03
R0349:Csk UTSW 9 57628194 missense probably damaging 0.98
R1553:Csk UTSW 9 57630942 missense probably damaging 1.00
R3196:Csk UTSW 9 57630273 nonsense probably null
R3980:Csk UTSW 9 57630780 missense probably damaging 1.00
R4912:Csk UTSW 9 57630780 missense probably damaging 1.00
R5231:Csk UTSW 9 57630378 missense probably damaging 1.00
R5574:Csk UTSW 9 57629301 missense probably benign 0.00
R5894:Csk UTSW 9 57628675 missense probably damaging 0.99
R5898:Csk UTSW 9 57630302 missense probably benign 0.03
R7542:Csk UTSW 9 57629000 critical splice donor site probably null
R7971:Csk UTSW 9 57628687 missense probably benign 0.01
Posted On2014-05-07