Incidental Mutation 'IGL01906:Csk'
ID 179658
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Csk
Ensembl Gene ENSMUSG00000032312
Gene Name c-src tyrosine kinase
Synonyms
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # IGL01906
Quality Score
Status
Chromosome 9
Chromosomal Location 57533929-57560758 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 57536304 bp (GRCm39)
Zygosity Heterozygous
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]
AlphaFold P41241
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: 9,166,225 (GRCm39) Q24L probably damaging Het
Adam1b A T 5: 121,639,538 (GRCm39) N502K probably benign Het
Adam6a T A 12: 113,507,951 (GRCm39) M108K probably benign Het
Akr1b10 A G 6: 34,364,746 (GRCm39) K69R probably benign Het
Ap5b1 T A 19: 5,621,007 (GRCm39) L809* probably null Het
Asxl3 A T 18: 22,655,338 (GRCm39) H1116L probably benign Het
Birc6 A G 17: 74,945,353 (GRCm39) T2794A probably damaging Het
Bst1 T C 5: 43,994,861 (GRCm39) F248L probably damaging Het
Cep120 A T 18: 53,847,984 (GRCm39) V625E probably benign Het
Cgnl1 T C 9: 71,631,849 (GRCm39) M501V probably benign Het
Col19a1 T A 1: 24,356,510 (GRCm39) D661V probably damaging Het
Copb2 A T 9: 98,462,383 (GRCm39) E456V probably benign Het
Cttnbp2 G T 6: 18,378,375 (GRCm39) S977* probably null Het
Ddr2 A G 1: 169,809,668 (GRCm39) W770R probably damaging Het
Dnah7b T C 1: 46,214,613 (GRCm39) I1126T probably damaging Het
Ephb4 A T 5: 137,359,456 (GRCm39) E342V probably damaging Het
Erc2 T A 14: 27,863,263 (GRCm39) L496Q probably damaging Het
Faim2 G A 15: 99,412,314 (GRCm39) T140I probably damaging Het
Gm21738 G A 14: 19,416,979 (GRCm38) S144L probably benign Het
Haus3 A C 5: 34,325,667 (GRCm39) probably benign Het
Hmcn1 T C 1: 150,543,638 (GRCm39) T2846A probably benign Het
Mto1 T C 9: 78,372,213 (GRCm39) V561A probably benign Het
Myb T C 10: 21,028,533 (GRCm39) Y110C probably damaging Het
Or4k36 T C 2: 111,146,246 (GRCm39) C141R probably damaging Het
Plcd3 T C 11: 102,967,682 (GRCm39) Y420C probably damaging Het
Plk4 G T 3: 40,764,816 (GRCm39) M603I probably null Het
Scgb1b24 T C 7: 33,443,538 (GRCm39) C66R probably damaging Het
Sec23a T C 12: 59,053,830 (GRCm39) Y56C probably damaging Het
Setd1b C A 5: 123,295,730 (GRCm39) D1099E unknown Het
Sh2d7 G A 9: 54,446,750 (GRCm39) probably benign Het
Slc30a10 A T 1: 185,188,593 (GRCm39) K221* probably null Het
Slc5a1 T C 5: 33,311,997 (GRCm39) L463P probably damaging Het
Sp140l2 A G 1: 85,231,907 (GRCm39) probably benign Het
Strc T C 2: 121,208,115 (GRCm39) T419A probably benign Het
Styxl2 A C 1: 165,927,092 (GRCm39) L840R probably damaging Het
Ttc39a T C 4: 109,278,591 (GRCm39) M82T probably benign Het
Vmn2r129 C T 4: 156,690,549 (GRCm39) noncoding transcript Het
Vps13b T C 15: 35,639,993 (GRCm39) probably benign Het
Other mutations in Csk
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02558:Csk APN 9 57,537,546 (GRCm39) missense probably benign
IGL02723:Csk APN 9 57,538,672 (GRCm39) utr 5 prime probably benign
Clorets UTSW 9 57,537,585 (GRCm39) missense probably benign 0.03
R0349:Csk UTSW 9 57,535,477 (GRCm39) missense probably damaging 0.98
R1553:Csk UTSW 9 57,538,225 (GRCm39) missense probably damaging 1.00
R3196:Csk UTSW 9 57,537,556 (GRCm39) nonsense probably null
R3980:Csk UTSW 9 57,538,063 (GRCm39) missense probably damaging 1.00
R4912:Csk UTSW 9 57,538,063 (GRCm39) missense probably damaging 1.00
R5231:Csk UTSW 9 57,537,661 (GRCm39) missense probably damaging 1.00
R5574:Csk UTSW 9 57,536,584 (GRCm39) missense probably benign 0.00
R5894:Csk UTSW 9 57,535,958 (GRCm39) missense probably damaging 0.99
R5898:Csk UTSW 9 57,537,585 (GRCm39) missense probably benign 0.03
R7542:Csk UTSW 9 57,536,283 (GRCm39) critical splice donor site probably null
R7971:Csk UTSW 9 57,535,970 (GRCm39) missense probably benign 0.01
Posted On 2014-05-07