Incidental Mutation 'IGL01546:Catip'
ID90344
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 #IGL01546
Quality Score
Status
Chromosome1
Chromosomal Location74362108-74369321 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 74362795 bp
ZygosityHeterozygous
Amino Acid Change Leucine to Proline at position 43 (L43P)
Ref Sequence ENSEMBL: ENSMUSP00000141181 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000097697] [ENSMUST00000128445] [ENSMUST00000191010]
Predicted Effect possibly damaging
Transcript: ENSMUST00000097697
AA Change: L24P

PolyPhen 2 Score 0.900 (Sensitivity: 0.82; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000095303
Gene: ENSMUSG00000073650
AA Change: L24P

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: L68P

PolyPhen 2 Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000117442
Gene: ENSMUSG00000073650
AA Change: L68P

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: L43P

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000141181
Gene: ENSMUSG00000073650
AA Change: L43P

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: 25 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700016D06Rik T A 8: 11,656,136 M133L probably benign Het
Amdhd2 C A 17: 24,163,600 R22L probably benign Het
Arg2 T C 12: 79,149,859 probably benign Het
Ccdc30 A C 4: 119,398,188 L123R probably damaging Het
Cep89 T C 7: 35,420,900 L369P probably damaging Het
Dolpp1 T C 2: 30,397,095 F180L probably damaging Het
Kctd19 T C 8: 105,386,962 H670R probably benign Het
Kntc1 T A 5: 123,765,005 I315N probably benign Het
Mfsd4b2 A T 10: 39,921,475 W295R probably damaging Het
Mgam A G 6: 40,654,693 T116A probably damaging Het
Mn1 A T 5: 111,421,248 D1028V probably damaging Het
Olfr19 A G 16: 16,673,265 S239P probably damaging Het
Olfr23 G A 11: 73,941,194 G316D probably benign Het
Olfr592 A T 7: 103,187,410 I270F probably damaging Het
Olfr690 T C 7: 105,329,692 R167G probably damaging Het
Olfr694 A G 7: 106,689,531 S67P probably damaging Het
Olfr845 T G 9: 19,338,772 V104G possibly damaging Het
Phc3 C A 3: 30,961,739 A108S probably damaging Het
Pkhd1l1 A G 15: 44,566,316 Y3310C probably damaging Het
Ppp4r3b T C 11: 29,209,488 probably null Het
Slx4ip A G 2: 137,066,199 T159A probably benign Het
Sos1 T A 17: 80,408,611 Y974F probably damaging Het
Taar8a A T 10: 24,076,915 Y139F possibly damaging Het
Vcam1 A G 3: 116,115,942 C579R possibly damaging Het
Zdhhc17 C T 10: 110,946,193 V547M probably damaging Het
Other mutations in Catip
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01774:Catip APN 1 74368483 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 On2013-12-03