Incidental Mutation 'IGL02532:Catip'
ID297333
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Catip
Ensembl Gene ENSMUSG00000073650
Gene Nameciliogenesis associated TTC17 interacting protein
SynonymsGm216, LOC241112
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL02532
Quality Score
Status
Chromosome1
Chromosomal Location74362108-74369321 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 74364616 bp
ZygosityHeterozygous
Amino Acid Change Asparagine to Serine at position 189 (N189S)
Ref Sequence ENSEMBL: ENSMUSP00000117442 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000097697] [ENSMUST00000128445] [ENSMUST00000191010]
Predicted Effect possibly damaging
Transcript: ENSMUST00000097697
AA Change: N145S

PolyPhen 2 Score 0.810 (Sensitivity: 0.84; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000095303
Gene: ENSMUSG00000073650
AA Change: N145S

DomainStartEndE-ValueType
low complexity region 67 83 N/A INTRINSIC
low complexity region 299 307 N/A INTRINSIC
coiled coil region 341 383 N/A INTRINSIC
low complexity region 473 499 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000128445
AA Change: N189S

PolyPhen 2 Score 0.966 (Sensitivity: 0.77; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000117442
Gene: ENSMUSG00000073650
AA Change: N189S

DomainStartEndE-ValueType
low complexity region 7 24 N/A INTRINSIC
low complexity region 111 127 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000186688
Predicted Effect possibly damaging
Transcript: ENSMUST00000191010
AA Change: N164S

PolyPhen 2 Score 0.810 (Sensitivity: 0.84; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000141181
Gene: ENSMUSG00000073650
AA Change: N164S

DomainStartEndE-ValueType
low complexity region 86 102 N/A INTRINSIC
low complexity region 318 326 N/A INTRINSIC
coiled coil region 360 402 N/A INTRINSIC
low complexity region 492 518 N/A INTRINSIC
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 44 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700123L14Rik A C 6: 96,164,790 S424R probably damaging Het
2200002D01Rik T C 7: 29,248,220 K15E possibly damaging Het
Abca2 A G 2: 25,435,136 T381A probably benign Het
Adcy1 T A 11: 7,144,737 N554K probably benign Het
Adcy5 A G 16: 35,272,083 I605V possibly damaging Het
Arhgap11a G T 2: 113,833,676 S754* probably null Het
Arhgef28 T A 13: 98,029,883 D319V probably damaging Het
Brca2 A G 5: 150,550,862 D2410G probably damaging Het
Carmil2 T A 8: 105,692,431 probably null Het
Cd177 T C 7: 24,745,249 K636E probably benign Het
Cep290 A G 10: 100,545,065 T145A probably benign Het
Cthrc1 T C 15: 39,077,165 probably benign Het
Efr3b C T 12: 3,983,391 V139I probably benign Het
Fas C A 19: 34,316,599 T118N probably damaging Het
Fgd3 G A 13: 49,285,761 A253V probably damaging Het
Fig4 A G 10: 41,285,281 probably benign Het
Fubp3 T C 2: 31,600,559 probably benign Het
Gria2 T A 3: 80,706,999 E578V probably damaging Het
Gtpbp1 T A 15: 79,720,077 V662E probably benign Het
Hbb-bt T C 7: 103,813,874 probably benign Het
Ighv6-5 T A 12: 114,416,804 D50V probably benign Het
Inpp5k T C 11: 75,633,184 probably benign Het
Kalrn T C 16: 34,360,846 N141D probably damaging Het
Kbtbd8 A G 6: 95,126,536 T389A probably benign Het
Klhl6 C A 16: 19,957,082 R242L possibly damaging Het
Kmt2b T C 7: 30,586,889 probably benign Het
Krt13 A T 11: 100,119,369 L262Q probably damaging Het
Lingo2 T C 4: 35,709,171 K270E possibly damaging Het
Mroh7 A G 4: 106,720,591 S297P probably benign Het
Ndufs1 G A 1: 63,170,139 R22C probably damaging Het
Nlrp5 T A 7: 23,409,973 S115T possibly damaging Het
Pfpl A T 19: 12,428,845 R153S probably damaging Het
Pkhd1 T A 1: 20,117,720 I3455F probably damaging Het
Psme1 T A 14: 55,581,138 Y223* probably null Het
R3hdm1 T C 1: 128,197,099 probably null Het
Rnf103 A G 6: 71,509,825 D480G probably benign Het
Rnf103 T G 6: 71,509,652 S422R probably damaging Het
Rps6ka2 T C 17: 7,255,966 V213A probably damaging Het
Sort1 G T 3: 108,325,720 K203N probably benign Het
Sugp1 A T 8: 70,059,819 K239N possibly damaging Het
Sult2a8 C T 7: 14,416,258 R176K probably benign Het
Usp34 T A 11: 23,370,291 N888K probably damaging Het
Vmn1r4 A C 6: 56,957,150 H213P possibly damaging Het
Wdr45b G T 11: 121,328,813 T303K probably benign Het
Other mutations in Catip
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01546:Catip APN 1 74362795 missense probably damaging 1.00
IGL01774:Catip APN 1 74368483 missense probably damaging 1.00
IGL03117:Catip APN 1 74364585 missense probably null 0.02
R0165:Catip UTSW 1 74368469 missense possibly damaging 0.93
R0760:Catip UTSW 1 74362959 splice site probably benign
R1384:Catip UTSW 1 74364363 missense probably benign 0.04
R1538:Catip UTSW 1 74364652 nonsense probably null
R1710:Catip UTSW 1 74362770 missense possibly damaging 0.93
R2255:Catip UTSW 1 74369000 unclassified probably benign
R2323:Catip UTSW 1 74363278 missense probably benign 0.03
R4429:Catip UTSW 1 74368732 unclassified probably benign
R4630:Catip UTSW 1 74368913 unclassified probably benign
R5249:Catip UTSW 1 74362795 missense probably damaging 1.00
R6057:Catip UTSW 1 74362918 missense probably damaging 1.00
R7176:Catip UTSW 1 74362782 missense probably damaging 1.00
R7495:Catip UTSW 1 74362692 missense probably benign 0.01
R7568:Catip UTSW 1 74368930 nonsense probably null
R7635:Catip UTSW 1 74368962 missense unknown
Posted On2015-04-16