Incidental Mutation 'IGL01365:CK137956'
ID75901
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol CK137956
Ensembl Gene ENSMUSG00000028813
Gene NamecDNA sequence CK137956
Synonyms
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.106) question?
Stock #IGL01365
Quality Score
Status
Chromosome4
Chromosomal Location127927592-127970951 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 127951342 bp
ZygosityHeterozygous
Amino Acid Change Serine to Proline at position 203 (S203P)
Ref Sequence ENSEMBL: ENSMUSP00000030614 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000030614]
Predicted Effect probably benign
Transcript: ENSMUST00000030614
AA Change: S203P

PolyPhen 2 Score 0.008 (Sensitivity: 0.96; Specificity: 0.76)
SMART Domains Protein: ENSMUSP00000030614
Gene: ENSMUSG00000028813
AA Change: S203P

DomainStartEndE-ValueType
Pfam:DUF4688 197 596 3.8e-249 PFAM
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 27 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adgre5 G T 8: 83,723,889 probably null Het
Agtr1a A G 13: 30,381,828 Y292C probably damaging Het
Btbd11 T C 10: 85,633,816 V867A possibly damaging Het
Cnbd1 C T 4: 18,860,576 G390D probably damaging Het
Cttnbp2nl T C 3: 105,005,030 T513A probably damaging Het
Dppa2 A G 16: 48,313,913 K67R possibly damaging Het
Kif3a A G 11: 53,593,523 K486E possibly damaging Het
Lmnb2 G T 10: 80,904,984 Q151K probably benign Het
Lmtk3 T A 7: 45,790,907 L223Q probably damaging Het
Lrrk1 A G 7: 66,287,701 I901T probably damaging Het
Macf1 T C 4: 123,391,169 Y3624C probably damaging Het
Mios T A 6: 8,216,089 Y428* probably null Het
Myb A G 10: 21,152,502 I154T probably benign Het
Olfr294 T C 7: 86,615,997 Y216C probably damaging Het
Parp9 C T 16: 35,947,954 T168I possibly damaging Het
Pramel7 T C 2: 87,491,413 probably benign Het
Ptar1 T A 19: 23,705,801 W140R probably damaging Het
Sec14l2 G T 11: 4,098,317 D400E probably benign Het
Setd3 A T 12: 108,157,906 Y175N probably damaging Het
Slc5a8 C T 10: 88,892,097 probably benign Het
Slc8a3 A G 12: 81,315,376 V223A probably damaging Het
Srsf1 G T 11: 88,049,181 R173L possibly damaging Het
Svep1 T A 4: 58,100,878 probably null Het
Tead2 T A 7: 45,217,251 D11E probably damaging Het
Trappc12 T A 12: 28,747,402 I44F probably damaging Het
Ttll9 T C 2: 153,000,134 Y303H possibly damaging Het
Vmn1r28 T A 6: 58,265,191 N6K possibly damaging Het
Other mutations in CK137956
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01123:CK137956 APN 4 127935850 missense probably benign
IGL01563:CK137956 APN 4 127970635 missense possibly damaging 0.94
IGL01834:CK137956 APN 4 127946649 missense probably damaging 1.00
R0117:CK137956 UTSW 4 127946792 missense possibly damaging 0.63
R0456:CK137956 UTSW 4 127945307 missense probably damaging 0.99
R0492:CK137956 UTSW 4 127951300 missense probably benign 0.03
R1793:CK137956 UTSW 4 127951449 missense probably benign
R1869:CK137956 UTSW 4 127970534 missense possibly damaging 0.92
R1932:CK137956 UTSW 4 127946858 missense possibly damaging 0.89
R2011:CK137956 UTSW 4 127951036 missense probably benign 0.25
R2030:CK137956 UTSW 4 127951387 missense probably benign 0.23
R2032:CK137956 UTSW 4 127945276 missense probably benign 0.38
R2135:CK137956 UTSW 4 127951640 splice site probably benign
R2994:CK137956 UTSW 4 127951507 missense probably benign 0.03
R3608:CK137956 UTSW 4 127951326 missense probably damaging 1.00
R3895:CK137956 UTSW 4 127946648 missense probably benign 0.01
R4165:CK137956 UTSW 4 127970729 missense possibly damaging 0.83
R5610:CK137956 UTSW 4 127946647 critical splice donor site probably null
R6861:CK137956 UTSW 4 127970726 missense probably damaging 0.98
R7149:CK137956 UTSW 4 127970833 start codon destroyed probably null 0.53
Posted On2013-10-07