Incidental Mutation 'IGL02591:Ckap4'
ID299748
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Ckap4
Ensembl Gene ENSMUSG00000046841
Gene Namecytoskeleton-associated protein 4
SynonymsCLIMP-63, 5630400A09Rik, P63
Accession Numbers
Is this an essential gene? Possibly non essential (E-score: 0.366) question?
Stock #IGL02591
Quality Score
Status
Chromosome10
Chromosomal Location84526305-84534062 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 84528590 bp
ZygosityHeterozygous
Amino Acid Change Aspartic acid to Glycine at position 203 (D203G)
Ref Sequence ENSEMBL: ENSMUSP00000130304 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000053871] [ENSMUST00000167671]
Predicted Effect probably damaging
Transcript: ENSMUST00000053871
AA Change: D203G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000050336
Gene: ENSMUSG00000046841
AA Change: D203G

DomainStartEndE-ValueType
low complexity region 36 59 N/A INTRINSIC
low complexity region 64 82 N/A INTRINSIC
transmembrane domain 86 108 N/A INTRINSIC
internal_repeat_1 191 233 1.28e-5 PROSPERO
internal_repeat_1 269 311 1.28e-5 PROSPERO
coiled coil region 338 362 N/A INTRINSIC
coiled coil region 408 438 N/A INTRINSIC
low complexity region 476 489 N/A INTRINSIC
coiled coil region 537 575 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000167671
AA Change: D203G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000130304
Gene: ENSMUSG00000046841
AA Change: D203G

DomainStartEndE-ValueType
low complexity region 36 59 N/A INTRINSIC
low complexity region 64 82 N/A INTRINSIC
transmembrane domain 86 108 N/A INTRINSIC
internal_repeat_1 191 233 1.28e-5 PROSPERO
internal_repeat_1 269 311 1.28e-5 PROSPERO
coiled coil region 338 362 N/A INTRINSIC
coiled coil region 408 438 N/A INTRINSIC
low complexity region 476 489 N/A INTRINSIC
coiled coil region 537 575 N/A INTRINSIC
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 32 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4921504E06Rik A T 2: 19,480,438 F448I probably benign Het
Afg3l1 T C 8: 123,486,009 F170L probably damaging Het
Aox2 A T 1: 58,358,999 R1300* probably null Het
Cadps G A 14: 12,473,465 R899C probably damaging Het
Dsg1c A G 18: 20,275,192 N433D probably damaging Het
Eapp T C 12: 54,692,822 N70S probably damaging Het
Eno3 A T 11: 70,662,027 D378V probably damaging Het
Ep400 T A 5: 110,733,772 probably benign Het
F13a1 T A 13: 36,898,057 I558F probably damaging Het
Fermt1 A T 2: 132,934,866 M234K possibly damaging Het
Fgfr1op2 A G 6: 146,588,846 Q81R probably damaging Het
Gpm6a C T 8: 55,058,919 A276V probably damaging Het
Hecw1 C A 13: 14,357,236 probably benign Het
Ikbip G T 10: 91,096,292 C266F probably damaging Het
Lpar2 C T 8: 69,824,050 A163V probably benign Het
Med17 T A 9: 15,270,361 H31L probably damaging Het
Olfr1002 C A 2: 85,648,143 M59I probably damaging Het
Otoa T C 7: 121,155,830 F992L probably damaging Het
Ptprd T C 4: 75,982,050 H864R probably damaging Het
Samd9l A C 6: 3,375,760 C500W possibly damaging Het
Sarm1 A T 11: 78,487,352 Y501N probably damaging Het
Selp A T 1: 164,130,133 H277L probably damaging Het
Slc39a8 T G 3: 135,884,620 L358R probably damaging Het
Spi1 T A 2: 91,096,950 M1K probably null Het
Thsd1 A G 8: 22,258,727 E477G probably damaging Het
Tlr1 C T 5: 64,926,716 V173M probably damaging Het
Tmco2 C T 4: 121,105,790 D171N probably damaging Het
Ugt2b1 A G 5: 86,917,704 L492P probably damaging Het
Vmn2r70 A T 7: 85,564,945 I333K probably damaging Het
Zfp598 C A 17: 24,677,504 P185Q probably damaging Het
Zfp711 T A X: 112,632,694 M474K probably benign Het
Zscan18 T C 7: 12,775,279 probably benign Het
Other mutations in Ckap4
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL03251:Ckap4 APN 10 84528605 missense probably damaging 1.00
PIT1430001:Ckap4 UTSW 10 84527766 missense probably damaging 0.99
R0866:Ckap4 UTSW 10 84527520 missense probably damaging 1.00
R1462:Ckap4 UTSW 10 84527567 missense probably damaging 1.00
R1462:Ckap4 UTSW 10 84527567 missense probably damaging 1.00
R1734:Ckap4 UTSW 10 84527874 missense probably benign
R2113:Ckap4 UTSW 10 84533523 missense possibly damaging 0.79
R3723:Ckap4 UTSW 10 84528392 missense probably damaging 1.00
R3958:Ckap4 UTSW 10 84528164 missense probably benign 0.01
R4735:Ckap4 UTSW 10 84533520 missense possibly damaging 0.69
R4746:Ckap4 UTSW 10 84533520 missense possibly damaging 0.69
R4857:Ckap4 UTSW 10 84533488 missense possibly damaging 0.73
R5308:Ckap4 UTSW 10 84528374 missense probably benign 0.01
R5333:Ckap4 UTSW 10 84527610 missense probably damaging 1.00
R5848:Ckap4 UTSW 10 84533490 missense probably benign 0.02
R7383:Ckap4 UTSW 10 84528284 missense probably damaging 1.00
R7402:Ckap4 UTSW 10 84527999 missense probably damaging 0.99
R7453:Ckap4 UTSW 10 84528599 missense probably damaging 1.00
R7757:Ckap4 UTSW 10 84528467 missense probably damaging 1.00
Posted On2015-04-16