Incidental Mutation 'R5432:Aasdhppt'
ID 428098
Institutional Source Beutler Lab
Gene Symbol Aasdhppt
Ensembl Gene ENSMUSG00000025894
Gene Name aminoadipate-semialdehyde dehydrogenase-phosphopantetheinyl transferase
Synonyms LYS5, 2010309J24Rik, LYS2, CGI-80, AASD-PPT, 2810407B07Rik
MMRRC Submission 042997-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R5432 (G1)
Quality Score 210
Status Not validated
Chromosome 9
Chromosomal Location 4294793-4309471 bp(-) (GRCm39)
Type of Mutation nonsense
DNA Base Change (assembly) G to A at 4309349 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Arginine to Stop codon at position 30 (R30*)
Ref Sequence ENSEMBL: ENSMUSP00000148272 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000049648] [ENSMUST00000051589] [ENSMUST00000212066] [ENSMUST00000212221] [ENSMUST00000212897]
AlphaFold Q9CQF6
Predicted Effect probably benign
Transcript: ENSMUST00000049648
SMART Domains Protein: ENSMUSP00000050183
Gene: ENSMUSG00000025893

DomainStartEndE-ValueType
BTB 48 145 1.83e-23 SMART
BACK 150 252 1.19e-26 SMART
Blast:Kelch 292 338 7e-15 BLAST
Kelch 339 399 2.56e0 SMART
Kelch 400 450 8.67e-4 SMART
Kelch 548 597 3.3e-1 SMART
Predicted Effect probably null
Transcript: ENSMUST00000051589
AA Change: R30*
SMART Domains Protein: ENSMUSP00000053971
Gene: ENSMUSG00000025894
AA Change: R30*

DomainStartEndE-ValueType
Pfam:ACPS 125 244 6e-19 PFAM
Predicted Effect probably null
Transcript: ENSMUST00000212066
AA Change: R30*
Predicted Effect probably benign
Transcript: ENSMUST00000212221
Predicted Effect probably null
Transcript: ENSMUST00000212897
AA Change: R30*
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.5%
  • 10x: 97.0%
  • 20x: 94.5%
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is similar to Saccharomyces cerevisiae LYS5, which is required for the activation of the alpha-aminoadipate dehydrogenase in the biosynthetic pathway of lysine. Yeast alpha-aminoadipate dehydrogenase converts alpha-biosynthetic-aminoadipate semialdehyde to alpha-aminoadipate. It has been suggested that defects in the human gene result in pipecolic acidemia. [provided by RefSeq, Jul 2008]
Allele List at MGI
Other mutations in this stock
Total: 48 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca9 G A 11: 110,032,380 (GRCm39) R746W possibly damaging Het
Akap13 A G 7: 75,252,578 (GRCm39) E236G probably damaging Het
Asb4 A C 6: 5,430,912 (GRCm39) R382S probably damaging Het
Bahcc1 T C 11: 120,178,814 (GRCm39) S2458P probably benign Het
Bspry T C 4: 62,400,952 (GRCm39) V148A probably benign Het
Cacna2d3 A C 14: 28,665,512 (GRCm39) probably null Het
Cblb T A 16: 51,963,228 (GRCm39) H390Q probably damaging Het
Cct8l1 T C 5: 25,721,305 (GRCm39) S7P possibly damaging Het
Cep295 T C 9: 15,262,991 (GRCm39) T191A possibly damaging Het
Cts8 A C 13: 61,398,826 (GRCm39) F227V probably benign Het
Elac1 T C 18: 73,875,864 (GRCm39) T56A possibly damaging Het
Fjx1 T C 2: 102,280,864 (GRCm39) N357S possibly damaging Het
Gm5414 T C 15: 101,533,069 (GRCm39) T453A probably damaging Het
Hcls1 G A 16: 36,781,910 (GRCm39) E340K probably benign Het
Hrc C A 7: 44,986,285 (GRCm39) H479N possibly damaging Het
Ikzf4 A G 10: 128,470,047 (GRCm39) V491A probably damaging Het
Kalrn A G 16: 33,873,992 (GRCm39) S138P probably damaging Het
Lama3 G T 18: 12,705,123 (GRCm39) D3062Y probably damaging Het
Lcor A G 19: 41,573,042 (GRCm39) E599G probably damaging Het
Llgl1 T C 11: 60,598,449 (GRCm39) S442P probably benign Het
Macf1 T A 4: 123,353,129 (GRCm39) K1517* probably null Het
Myo9a A T 9: 59,772,953 (GRCm39) Y995F possibly damaging Het
Nek3 A C 8: 22,638,748 (GRCm39) probably null Het
Nynrin A G 14: 56,101,923 (GRCm39) T531A possibly damaging Het
Or1e16 AGCGGTCGTAGGC AGC 11: 73,286,480 (GRCm39) probably null Het
Or2m12 A T 16: 19,104,839 (GRCm39) I218N probably benign Het
Pdia4 A G 6: 47,775,400 (GRCm39) V470A possibly damaging Het
Pinlyp T C 7: 24,241,892 (GRCm39) D105G probably damaging Het
Pla2g6 A G 15: 79,186,817 (GRCm39) probably null Het
Plpp7 A G 2: 31,985,932 (GRCm39) S37G probably benign Het
Prdm11 G T 2: 92,806,158 (GRCm39) P264Q probably benign Het
Rbl2 G T 8: 91,828,911 (GRCm39) R604L probably benign Het
Rfx7 A G 9: 72,500,584 (GRCm39) T115A probably benign Het
Samd4 A G 14: 47,311,519 (GRCm39) Q279R probably benign Het
Sdha G T 13: 74,475,068 (GRCm39) A591D probably damaging Het
Secisbp2 AAGCAGCAGCAGCAGCAGCA AAGCAGCAGCAGCAGCA 13: 51,828,002 (GRCm39) probably benign Het
Sephs2 G A 7: 126,872,977 (GRCm39) R39W probably damaging Het
Serpina3f T C 12: 104,186,577 (GRCm39) I381T possibly damaging Het
Shd A T 17: 56,283,214 (GRCm39) Q281L probably damaging Het
Sik3 A G 9: 46,034,539 (GRCm39) S98G probably benign Het
Srgap1 T A 10: 121,705,728 (GRCm39) N232I probably damaging Het
Thbs1 A T 2: 117,945,164 (GRCm39) N246Y probably benign Het
Usp9y A G Y: 1,368,022 (GRCm39) probably null Het
Vwde A G 6: 13,190,591 (GRCm39) M500T probably damaging Het
Wdr72 T G 9: 74,183,228 (GRCm39) S1053R probably damaging Het
Yif1b T C 7: 28,945,393 (GRCm39) C192R probably damaging Het
Zc3h13 A G 14: 75,568,687 (GRCm39) S1327G probably damaging Het
Zfp1004 A G 2: 150,033,901 (GRCm39) N74S possibly damaging Het
Other mutations in Aasdhppt
AlleleSourceChrCoordTypePredicted EffectPPH Score
R2314:Aasdhppt UTSW 9 4,309,322 (GRCm39) missense probably damaging 1.00
R5406:Aasdhppt UTSW 9 4,309,387 (GRCm39) missense probably damaging 1.00
R6443:Aasdhppt UTSW 9 4,309,357 (GRCm39) missense probably damaging 1.00
R7935:Aasdhppt UTSW 9 4,308,732 (GRCm39) missense probably benign 0.00
R8069:Aasdhppt UTSW 9 4,296,823 (GRCm39) missense probably benign 0.00
R8516:Aasdhppt UTSW 9 4,309,373 (GRCm39) missense probably benign 0.03
R8863:Aasdhppt UTSW 9 4,309,424 (GRCm39) missense possibly damaging 0.74
R9592:Aasdhppt UTSW 9 4,309,312 (GRCm39) missense probably benign 0.39
Predicted Primers PCR Primer
(F):5'- GACTAGATGTGAGTGACCCAG -3'
(R):5'- TAACGTCTGTTGCGAGGTGC -3'

Sequencing Primer
(F):5'- ATGTGAGTGACCCAGGCCTC -3'
(R):5'- AGGTGCTGCCCCTTTGC -3'
Posted On 2016-09-01