Incidental Mutation 'IGL03011:Tapt1'
ID 407760
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Tapt1
Ensembl Gene ENSMUSG00000046985
Gene Name transmembrane anterior posterior transformation 1
Synonyms 4932414K18Rik
Accession Numbers
Essential gene? Probably essential (E-score: 0.781) question?
Stock # IGL03011
Quality Score
Status
Chromosome 5
Chromosomal Location 44332496-44383968 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 44350529 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Phenylalanine to Leucine at position 247 (F247L)
Ref Sequence ENSEMBL: ENSMUSP00000062110 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000055128] [ENSMUST00000199374]
AlphaFold Q4VBD2
Predicted Effect possibly damaging
Transcript: ENSMUST00000055128
AA Change: F247L

PolyPhen 2 Score 0.584 (Sensitivity: 0.88; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000062110
Gene: ENSMUSG00000046985
AA Change: F247L

DomainStartEndE-ValueType
low complexity region 6 43 N/A INTRINSIC
low complexity region 54 62 N/A INTRINSIC
transmembrane domain 119 141 N/A INTRINSIC
Pfam:DUF747 152 456 8.9e-112 PFAM
low complexity region 473 489 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000197266
Predicted Effect noncoding transcript
Transcript: ENSMUST00000198348
Predicted Effect noncoding transcript
Transcript: ENSMUST00000198391
Predicted Effect noncoding transcript
Transcript: ENSMUST00000199265
Predicted Effect probably benign
Transcript: ENSMUST00000199374
SMART Domains Protein: ENSMUSP00000143625
Gene: ENSMUSG00000046985

DomainStartEndE-ValueType
low complexity region 6 43 N/A INTRINSIC
low complexity region 54 62 N/A INTRINSIC
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a highly conserved protein that localizes to the centrosome and/or ciliary basal body. Mutations in this gene disrupt Golgi morphology and trafficking and normal primary cilium formation and these mutations are congenitally manifested by severe undermineralization of the intra-uterine skeleton. A mutation in the mouse ortholog of this gene results in homeotic, posterior-to-anterior transformations of the axial skeleton which are similar to the phenotype of mouse homeobox C8 gene mutants. In mouse, this gene is thought to function downstream of homeobox C8 to transduce extracellular patterning information during axial skeleton development. [provided by RefSeq, Jan 2017]
PHENOTYPE: Mice homozygous for an ENU mutation causing a truncation exhibit vertebral trasnformations and defects in rib attachment and the xiphoid process. Mice homozygous for a transgenic gene disruption exhibit cleft palate and possible anemia. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 44 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acvr1b A G 15: 101,100,959 (GRCm39) R374G probably damaging Het
Apob C A 12: 8,047,883 (GRCm39) P941Q probably damaging Het
Armc9 T A 1: 86,127,638 (GRCm39) probably null Het
Arpc5l T C 2: 38,903,730 (GRCm39) probably benign Het
Atg2b C A 12: 105,592,621 (GRCm39) D1745Y probably damaging Het
Atp9a A G 2: 168,494,552 (GRCm39) V651A probably damaging Het
Ccnyl1 T C 1: 64,747,631 (GRCm39) I148T possibly damaging Het
Cfap95 T A 19: 23,630,017 (GRCm39) D25V unknown Het
Chrna6 A T 8: 27,903,682 (GRCm39) W17R possibly damaging Het
Cpne1 G A 2: 155,919,917 (GRCm39) H244Y probably damaging Het
Cpxm2 A G 7: 131,650,807 (GRCm39) Y618H possibly damaging Het
Csf1r T C 18: 61,243,473 (GRCm39) I163T probably benign Het
Ctdsp1 T C 1: 74,434,606 (GRCm39) probably benign Het
Ctsb T A 14: 63,370,806 (GRCm39) I6N probably benign Het
Dcbld1 A G 10: 52,160,244 (GRCm39) N44S probably damaging Het
Dnah11 C T 12: 117,976,112 (GRCm39) C2769Y probably benign Het
Efemp2 C A 19: 5,530,093 (GRCm39) Q187K probably damaging Het
Elavl3 A T 9: 21,947,612 (GRCm39) I109N probably damaging Het
Elovl5 G T 9: 77,890,066 (GRCm39) K292N probably benign Het
Epb41 G T 4: 131,731,105 (GRCm39) P1T probably damaging Het
Gm44865 G T 7: 108,165,007 (GRCm39) probably benign Het
Gnat2 C A 3: 108,007,368 (GRCm39) T262K probably damaging Het
Katnip T C 7: 125,451,174 (GRCm39) C1102R probably benign Het
Kmt2e A T 5: 23,702,540 (GRCm39) I951F probably damaging Het
Large2 T C 2: 92,197,927 (GRCm39) H258R probably damaging Het
Lnx1 G A 5: 74,846,420 (GRCm39) P10L probably benign Het
Lrp6 G A 6: 134,497,380 (GRCm39) S209L possibly damaging Het
Mc3r A G 2: 172,091,716 (GRCm39) I313V probably benign Het
Med1 T C 11: 98,051,859 (GRCm39) D468G possibly damaging Het
Mlxip T C 5: 123,584,014 (GRCm39) S526P probably benign Het
Myo15a T C 11: 60,400,357 (GRCm39) probably benign Het
Nedd1 T C 10: 92,525,503 (GRCm39) D602G possibly damaging Het
Nol7 C T 13: 43,554,769 (GRCm39) probably benign Het
Or8c10 T C 9: 38,279,364 (GRCm39) I174T possibly damaging Het
Piezo2 T C 18: 63,257,731 (GRCm39) D329G probably benign Het
Pkia G T 3: 7,507,142 (GRCm39) E75* probably null Het
Pramel26 A C 4: 143,538,330 (GRCm39) F214V possibly damaging Het
Ptpn14 A T 1: 189,571,754 (GRCm39) T282S probably damaging Het
Ptprg C T 14: 12,219,029 (GRCm38) P408S probably damaging Het
Rpa2 A G 4: 132,502,358 (GRCm39) I147V probably benign Het
Serpina12 T C 12: 103,997,397 (GRCm39) T375A possibly damaging Het
Serpinb11 T A 1: 107,307,546 (GRCm39) S326T probably damaging Het
Slc18a1 T C 8: 69,491,515 (GRCm39) T500A probably benign Het
Trav8d-2 A G 14: 53,280,218 (GRCm39) I69M possibly damaging Het
Other mutations in Tapt1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01992:Tapt1 APN 5 44,336,332 (GRCm39) missense probably damaging 1.00
IGL03018:Tapt1 APN 5 44,361,666 (GRCm39) missense probably damaging 1.00
R0385:Tapt1 UTSW 5 44,375,443 (GRCm39) splice site probably null
R0624:Tapt1 UTSW 5 44,334,448 (GRCm39) missense possibly damaging 0.81
R1491:Tapt1 UTSW 5 44,375,444 (GRCm39) critical splice donor site probably null
R2423:Tapt1 UTSW 5 44,349,795 (GRCm39) missense probably benign 0.08
R4175:Tapt1 UTSW 5 44,334,447 (GRCm39) missense probably benign 0.02
R5794:Tapt1 UTSW 5 44,334,476 (GRCm39) missense probably benign 0.00
R7344:Tapt1 UTSW 5 44,345,999 (GRCm39) missense probably damaging 1.00
R7355:Tapt1 UTSW 5 44,334,459 (GRCm39) missense probably benign
R7464:Tapt1 UTSW 5 44,346,030 (GRCm39) nonsense probably null
R7491:Tapt1 UTSW 5 44,345,978 (GRCm39) missense probably damaging 1.00
R8085:Tapt1 UTSW 5 44,336,307 (GRCm39) missense probably damaging 1.00
R8710:Tapt1 UTSW 5 44,351,743 (GRCm39) missense probably benign 0.16
X0062:Tapt1 UTSW 5 44,351,699 (GRCm39) missense probably damaging 1.00
Posted On 2016-08-02