Incidental Mutation 'IGL01774:Catip'
ID154045
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 #IGL01774
Quality Score
Status
Chromosome1
Chromosomal Location74362108-74369321 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) C to A at 74368483 bp
ZygosityHeterozygous
Amino Acid Change Arginine to Serine at position 325 (R325S)
Ref Sequence ENSEMBL: ENSMUSP00000141181 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000097697] [ENSMUST00000128445] [ENSMUST00000191010]
Predicted Effect probably damaging
Transcript: ENSMUST00000097697
AA Change: R306S

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000095303
Gene: ENSMUSG00000073650
AA Change: R306S

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 benign
Transcript: ENSMUST00000128445
SMART Domains Protein: ENSMUSP00000117442
Gene: ENSMUSG00000073650

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 probably damaging
Transcript: ENSMUST00000191010
AA Change: R325S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000141181
Gene: ENSMUSG00000073650
AA Change: R325S

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: 36 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca16 A G 7: 120,477,835 D708G probably damaging Het
Abca16 T C 7: 120,421,801 probably benign Het
Abcc5 T C 16: 20,378,457 D674G probably damaging Het
Abr A G 11: 76,464,299 probably benign Het
Arfgef3 A G 10: 18,743,615 I4T possibly damaging Het
Btla A G 16: 45,250,548 N290S possibly damaging Het
Cep120 A G 18: 53,706,830 L786P possibly damaging Het
Cnot8 A G 11: 58,115,307 I221V probably benign Het
Eloc A T 1: 16,645,789 D37E probably benign Het
Fabp12 A C 3: 10,247,694 N89K probably benign Het
Ficd G T 5: 113,739,012 R416L probably damaging Het
Frmd3 T C 4: 74,187,838 Y574H probably damaging Het
Frmd4a T C 2: 4,535,236 probably benign Het
Gatc G A 5: 115,341,017 Q45* probably null Het
Gm5414 T C 15: 101,626,975 D225G probably benign Het
Itpkc G T 7: 27,212,370 A592E probably benign Het
Kl G T 5: 150,988,483 V566L probably benign Het
Lpin1 T A 12: 16,558,476 D545V probably damaging Het
Mtcl1 T C 17: 66,385,885 Y483C probably damaging Het
Neb C T 2: 52,222,970 W67* probably null Het
Nrarp T C 2: 25,181,286 V59A possibly damaging Het
Nuf2 G A 1: 169,506,072 T345M probably benign Het
Olfr659 T C 7: 104,670,942 I80T probably benign Het
Pacs2 T A 12: 113,056,842 H278Q probably benign Het
Pot1a T C 6: 25,753,277 K420R probably benign Het
Rag2 A G 2: 101,630,047 Y234C probably damaging Het
Ralgds C T 2: 28,550,542 Q88* probably null Het
Rictor T C 15: 6,769,777 S365P probably damaging Het
Slco1a1 G A 6: 141,925,613 Q276* probably null Het
Tas2r134 C T 2: 51,628,148 T213I probably benign Het
Tecpr1 A G 5: 144,211,540 I349T probably damaging Het
Tnxb T C 17: 34,688,839 S1286P probably damaging Het
Trafd1 A G 5: 121,375,050 V375A possibly damaging Het
Vmn2r110 T A 17: 20,583,627 I229L probably benign Het
Vnn1 T C 10: 23,900,710 Y320H probably benign Het
Zfp990 T C 4: 145,536,948 V172A probably benign Het
Other mutations in Catip
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01546:Catip APN 1 74362795 missense probably damaging 1.00
IGL02532:Catip APN 1 74364616 missense probably damaging 0.97
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
R8084:Catip UTSW 1 74364356 missense probably damaging 0.97
Z1176:Catip UTSW 1 74367789 missense probably damaging 1.00
Posted On2014-02-04