Incidental Mutation 'R4175:Tapt1'
ID 318259
Institutional Source Beutler Lab
Gene Symbol Tapt1
Ensembl Gene ENSMUSG00000046985
Gene Name transmembrane anterior posterior transformation 1
Synonyms 4932414K18Rik
MMRRC Submission 041013-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.781) question?
Stock # R4175 (G1)
Quality Score 225
Status Validated
Chromosome 5
Chromosomal Location 44332496-44383968 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 44334447 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Phenylalanine at position 515 (L515F)
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: L515F

PolyPhen 2 Score 0.018 (Sensitivity: 0.95; Specificity: 0.80)
SMART Domains Protein: ENSMUSP00000062110
Gene: ENSMUSG00000046985
AA Change: L515F

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
Meta Mutation Damage Score 0.0740 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.1%
  • 20x: 94.8%
Validation Efficiency 96% (46/48)
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: 42 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ankrd63 T C 2: 118,533,100 (GRCm39) M274V probably benign Het
Ano6 A T 15: 95,860,050 (GRCm39) D724V probably damaging Het
Apobec3 A G 15: 79,779,653 (GRCm39) N43S probably damaging Het
Arfgef1 T C 1: 10,229,861 (GRCm39) H1280R probably damaging Het
Cbfa2t3 C T 8: 123,370,057 (GRCm39) V139M probably damaging Het
Cd200r3 T A 16: 44,774,552 (GRCm39) D188E probably benign Het
Clmp A T 9: 40,682,432 (GRCm39) N72I probably benign Het
Col11a1 A C 3: 114,001,872 (GRCm39) D432A possibly damaging Het
Creb3l1 A G 2: 91,813,520 (GRCm39) F506L probably benign Het
Ctbp1 A G 5: 33,424,250 (GRCm39) S47P probably damaging Het
Dus1l G A 11: 120,686,506 (GRCm39) R12C possibly damaging Het
Elp5 T C 11: 69,861,388 (GRCm39) Q197R probably null Het
Epb41l4b A G 4: 57,076,556 (GRCm39) V326A probably damaging Het
Fhdc1 T C 3: 84,364,294 (GRCm39) probably benign Het
Gm27013 T A 6: 130,654,110 (GRCm39) T451S probably benign Het
Ifi208 A T 1: 173,510,267 (GRCm39) M141L probably benign Het
Inpp5e A G 2: 26,290,937 (GRCm39) S377P probably damaging Het
Kat2a A G 11: 100,596,092 (GRCm39) L822P probably damaging Het
Kcnip2 G C 19: 45,800,654 (GRCm39) T24S probably benign Het
Med17 A G 9: 15,178,765 (GRCm39) Y469H possibly damaging Het
Mindy3 C T 2: 12,410,676 (GRCm39) C77Y probably damaging Het
Mmp1a A G 9: 7,467,236 (GRCm39) T271A probably benign Het
Ncor2 A T 5: 125,128,020 (GRCm39) S118T probably damaging Het
Or5ak24 A T 2: 85,260,962 (GRCm39) D70E probably damaging Het
Osmr A T 15: 6,882,027 (GRCm39) V39D probably damaging Het
Pcdh15 G A 10: 74,467,829 (GRCm39) probably benign Het
Pclo A G 5: 14,763,889 (GRCm39) K836E probably damaging Het
Phaf1 T C 8: 105,967,763 (GRCm39) L218P probably benign Het
Pik3r1 A T 13: 101,838,240 (GRCm39) L272H probably damaging Het
Pik3r1 G A 13: 101,838,241 (GRCm39) L272F probably benign Het
Prrc2b G GCT 2: 32,108,820 (GRCm39) probably benign Het
Ptprq T G 10: 107,547,778 (GRCm39) I207L probably benign Het
Rasa2 G T 9: 96,442,830 (GRCm39) T531K probably benign Het
Six4 G A 12: 73,155,605 (GRCm39) T454I probably damaging Het
Slc26a6 G A 9: 108,731,416 (GRCm39) probably benign Het
Slc7a13 G A 4: 19,819,492 (GRCm39) G231R probably null Het
Slco3a1 T A 7: 73,968,302 (GRCm39) N473Y probably damaging Het
Tmem145 T C 7: 25,008,218 (GRCm39) I253T probably benign Het
Trip11 G A 12: 101,861,957 (GRCm39) Q203* probably null Het
Unc13a A G 8: 72,120,368 (GRCm39) probably benign Het
Usp24 T C 4: 106,173,970 (GRCm39) V101A probably benign Het
Zfp36l3 T C X: 52,777,840 (GRCm39) T125A possibly 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
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
Predicted Primers PCR Primer
(F):5'- GGGCCTGACATCTTCATCTC -3'
(R):5'- TGGATAAACAGTGTGTGACTAGCTTC -3'

Sequencing Primer
(F):5'- GGGCCTGACATCTTCATCTCATTAG -3'
(R):5'- TGTAAATGACAGCTTATACAGTATGC -3'
Posted On 2015-06-10