Incidental Mutation 'R5794:Tapt1'
ID 447114
Institutional Source Beutler Lab
Gene Symbol Tapt1
Ensembl Gene ENSMUSG00000046985
Gene Name transmembrane anterior posterior transformation 1
Synonyms 4932414K18Rik
MMRRC Submission 043385-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.781) question?
Stock # R5794 (G1)
Quality Score 225
Status Not validated
Chromosome 5
Chromosomal Location 44332496-44383968 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 44334476 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glycine to Aspartic acid at position 505 (G505D)
Ref Sequence ENSEMBL: ENSMUSP00000062110 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000055128] [ENSMUST00000199374]
AlphaFold Q4VBD2
Predicted Effect probably benign
Transcript: ENSMUST00000055128
AA Change: G505D

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000062110
Gene: ENSMUSG00000046985
AA Change: G505D

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 noncoding transcript
Transcript: ENSMUST00000198388
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
  • 1x: 99.3%
  • 3x: 98.8%
  • 10x: 97.6%
  • 20x: 96.0%
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: 39 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aftph T C 11: 20,676,955 (GRCm39) probably null Het
Ank2 T C 3: 126,723,669 (GRCm39) N923S probably benign Het
Ano6 A T 15: 95,792,405 (GRCm39) T76S probably benign Het
Carmil1 G T 13: 24,276,533 (GRCm39) N204K probably damaging Het
Cep126 T G 9: 8,103,440 (GRCm39) N190T possibly damaging Het
Clasrp A T 7: 19,325,034 (GRCm39) D198E probably damaging Het
Cma1 T C 14: 56,181,977 (GRCm39) T18A probably benign Het
Ece1 A G 4: 137,683,844 (GRCm39) I565M probably damaging Het
Etl4 T A 2: 20,811,323 (GRCm39) F1135L probably damaging Het
Fbxw20 T C 9: 109,052,358 (GRCm39) N325S probably damaging Het
Fbxw20 A T 9: 109,062,668 (GRCm39) C53S possibly damaging Het
Gnb2 T C 5: 137,526,961 (GRCm39) D203G probably benign Het
Gprc5c G T 11: 114,755,093 (GRCm39) V257L possibly damaging Het
Hoxd9 T A 2: 74,529,617 (GRCm39) F291Y probably damaging Het
Igf2r T C 17: 12,928,332 (GRCm39) S1004G probably benign Het
Irgm1 T C 11: 48,757,064 (GRCm39) Y249C probably damaging Het
Kcnh3 A C 15: 99,130,855 (GRCm39) I491L probably benign Het
Kctd10 G A 5: 114,505,398 (GRCm39) R199W probably damaging Het
Klk1b4 A T 7: 43,859,069 (GRCm39) N29I probably damaging Het
Klrc1 C T 6: 129,652,317 (GRCm39) R188Q probably damaging Het
Krt32 C A 11: 99,975,812 (GRCm39) C275F probably damaging Het
Krt73 T A 15: 101,703,264 (GRCm39) T449S probably benign Het
Napepld T A 5: 21,888,429 (GRCm39) S7C possibly damaging Het
Nfia G T 4: 97,671,838 (GRCm39) V183L possibly damaging Het
Or5g27 T C 2: 85,409,685 (GRCm39) V34A probably benign Het
Or6c3 A C 10: 129,309,295 (GRCm39) I245L possibly damaging Het
Psma3 A G 12: 71,037,271 (GRCm39) T111A probably benign Het
Psmd11 T A 11: 80,362,318 (GRCm39) D125E probably benign Het
Rabgap1 T A 2: 37,392,914 (GRCm39) D523E probably benign Het
Rttn G T 18: 89,013,693 (GRCm39) R454L probably benign Het
Serpine2 T C 1: 79,799,156 (GRCm39) N33D probably benign Het
Six4 A T 12: 73,159,124 (GRCm39) S271T possibly damaging Het
Smoc2 T A 17: 14,589,310 (GRCm39) C260S possibly damaging Het
Snai2 A T 16: 14,524,590 (GRCm39) Y32F probably benign Het
Thap12 T A 7: 98,365,600 (GRCm39) D589E probably benign Het
Ttc23l G T 15: 10,551,636 (GRCm39) T30K possibly damaging Het
Vmn2r116 T C 17: 23,604,942 (GRCm39) I85T probably damaging Het
Zfp592 G T 7: 80,674,781 (GRCm39) V582L probably benign Het
Zfp827 T C 8: 79,797,071 (GRCm39) W386R probably damaging Het
Other mutations in Tapt1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01992:Tapt1 APN 5 44,336,332 (GRCm39) missense probably damaging 1.00
IGL03011:Tapt1 APN 5 44,350,529 (GRCm39) missense possibly damaging 0.58
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
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
Predicted Primers PCR Primer
(F):5'- GGTTCCCGCAAATTGTGAACC -3'
(R):5'- GGATAAACAGTGTGTGACTAGCTTC -3'

Sequencing Primer
(F):5'- CGCAAATTGTGAACCTGTCTATTTC -3'
(R):5'- TGTAAATGACAGCTTATACAGTATGC -3'
Posted On 2016-12-15