Incidental Mutation 'IGL02558:Csk'
ID298402
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 #IGL02558
Quality Score
Status
Chromosome9
Chromosomal Location57626646-57653631 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) C to T at 57630263 bp
ZygosityHeterozygous
Amino Acid Change Glutamic Acid to Lysine at position 123 (E123K)
Ref Sequence ENSEMBL: ENSMUSP00000150984 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000034863] [ENSMUST00000215396] [ENSMUST00000216934] [ENSMUST00000216979] [ENSMUST00000217128] [ENSMUST00000217314]
Predicted Effect probably benign
Transcript: ENSMUST00000034863
AA Change: E123K

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000034863
Gene: ENSMUSG00000032312
AA Change: E123K

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 benign
Transcript: ENSMUST00000215396
AA Change: E123K

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000215958
Predicted Effect probably benign
Transcript: ENSMUST00000216934
Predicted Effect probably benign
Transcript: ENSMUST00000216979
Predicted Effect probably benign
Transcript: ENSMUST00000217128
AA Change: E123K

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
Predicted Effect probably benign
Transcript: ENSMUST00000217314
AA Change: E123K

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
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: 41 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700109H08Rik A C 5: 3,582,194 *25C probably null Het
Abca13 T C 11: 9,399,387 Y3654H probably damaging Het
Ankle1 T C 8: 71,408,992 F438S probably damaging Het
Atp10a A T 7: 58,819,642 R1080S probably damaging Het
Ccdc51 A T 9: 109,092,184 N380Y probably damaging Het
Ccr8 A T 9: 120,094,658 I280F probably benign Het
Cdc45 C T 16: 18,798,729 M200I probably benign Het
Cep162 G T 9: 87,225,726 T537N probably benign Het
Cep162 T C 9: 87,225,733 T535A probably benign Het
Cfap52 T C 11: 67,954,138 D35G probably benign Het
Cmip G A 8: 117,449,088 S530N probably damaging Het
Col9a3 A T 2: 180,606,806 probably null Het
Csf3r T C 4: 126,038,135 probably benign Het
Csrnp3 G A 2: 66,022,229 E322K probably damaging Het
Ddx11 A T 17: 66,148,672 I663F probably damaging Het
Dnah1 T A 14: 31,274,379 M2667L possibly damaging Het
Foxred1 T C 9: 35,210,133 K40E probably damaging Het
Gata2 C T 6: 88,199,780 P74S probably benign Het
Gdf10 T G 14: 33,923,980 C29G probably benign Het
Hectd4 A G 5: 121,344,785 E3133G probably benign Het
Ints8 G A 4: 11,218,771 R784W probably damaging Het
Lrriq1 T C 10: 103,146,283 E1392G probably damaging Het
Muc19 T C 15: 91,897,622 noncoding transcript Het
Myom2 A T 8: 15,114,237 D1044V probably benign Het
Nphp4 G T 4: 152,555,531 R958L probably damaging Het
Nup205 C T 6: 35,189,924 P293S probably damaging Het
Olfr1130 T C 2: 87,607,559 I57T probably benign Het
Olfr23 A T 11: 73,940,825 H193L probably benign Het
Plxdc2 A G 2: 16,669,598 probably benign Het
Pwp2 T C 10: 78,179,065 S362G probably damaging Het
Siglec1 G T 2: 131,074,995 S1113R possibly damaging Het
Sirpa A G 2: 129,630,069 E472G probably damaging Het
Slc39a4 G T 15: 76,614,203 L345M probably damaging Het
Snx27 C T 3: 94,502,881 R496Q probably damaging Het
Stard9 A G 2: 120,696,907 H1215R possibly damaging Het
Stau1 A G 2: 166,950,848 Y371H probably benign Het
Sult2a1 A C 7: 13,832,595 W152G probably benign Het
Syt16 A T 12: 74,235,058 K319* probably null Het
Tcf7 T A 11: 52,253,970 probably benign Het
Tfdp1 A G 8: 13,369,546 N92D possibly damaging Het
Zfp13 C T 17: 23,576,098 A493T probably benign Het
Other mutations in Csk
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01906:Csk APN 9 57629021 missense probably damaging 1.00
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
Posted On2015-04-16