Incidental Mutation 'R6443:Aasdhppt'
ID 519092
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 044581-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R6443 (G1)
Quality Score 177.009
Status Validated
Chromosome 9
Chromosomal Location 4294793-4309471 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 4309357 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Proline at position 27 (L27P)
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 possibly damaging
Transcript: ENSMUST00000051589
AA Change: L27P

PolyPhen 2 Score 0.756 (Sensitivity: 0.85; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000053971
Gene: ENSMUSG00000025894
AA Change: L27P

DomainStartEndE-ValueType
Pfam:ACPS 125 244 6e-19 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000212066
AA Change: L27P

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
Predicted Effect probably benign
Transcript: ENSMUST00000212221
Predicted Effect probably damaging
Transcript: ENSMUST00000212897
AA Change: L27P

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.5%
  • 10x: 97.5%
  • 20x: 91.9%
Validation Efficiency 97% (37/38)
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: 38 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Actr6 T C 10: 89,550,733 (GRCm39) N354D probably damaging Het
Apbb1 T A 7: 105,222,970 (GRCm39) N214Y probably damaging Het
Bcar1 A T 8: 112,441,970 (GRCm39) V290E probably damaging Het
Ces1f T A 8: 94,001,993 (GRCm39) Q45L probably benign Het
Ctss A C 3: 95,454,114 (GRCm39) K221T probably benign Het
Dclre1b T A 3: 103,710,504 (GRCm39) N469I possibly damaging Het
Dnah12 C A 14: 26,600,008 (GRCm39) Q3683K probably benign Het
Dnah8 A G 17: 30,990,859 (GRCm39) I3301V probably benign Het
Ephb4 G A 5: 137,358,711 (GRCm39) G298E probably damaging Het
Eya3 T C 4: 132,439,238 (GRCm39) F455L probably damaging Het
Fkbp5 G T 17: 28,648,253 (GRCm39) A112D probably damaging Het
Glud1 T C 14: 34,061,884 (GRCm39) M468T probably benign Het
Gm5114 C A 7: 39,057,141 (GRCm39) R826L possibly damaging Het
Gramd2b G A 18: 56,618,457 (GRCm39) V222I probably benign Het
Kif1b T C 4: 149,277,053 (GRCm39) M1337V probably benign Het
Lpin2 T C 17: 71,548,663 (GRCm39) S576P probably benign Het
Lrrc1 A G 9: 77,341,314 (GRCm39) F415L probably damaging Het
Mtmr3 A T 11: 4,437,358 (GRCm39) I1032K probably damaging Het
Nr5a1 G A 2: 38,600,442 (GRCm39) T75M probably damaging Het
Nwd1 G A 8: 73,388,994 (GRCm39) V141I possibly damaging Het
Or1e1b-ps1 A T 11: 73,845,918 (GRCm39) Q134L probably benign Het
Or5ar1 T G 2: 85,671,979 (GRCm39) D52A probably damaging Het
Or6c214 C A 10: 129,591,277 (GRCm39) G14V probably damaging Het
Pla1a T C 16: 38,229,949 (GRCm39) probably null Het
Ppp1r36 A G 12: 76,464,413 (GRCm39) S4G probably benign Het
Rsf1 G GACGGCGGCT 7: 97,229,116 (GRCm39) probably benign Homo
Ryr1 A T 7: 28,776,503 (GRCm39) M2204K probably damaging Het
Ryr3 T C 2: 112,506,278 (GRCm39) N3428S possibly damaging Het
Slc6a4 A G 11: 76,914,027 (GRCm39) K526E probably benign Het
Slc9a8 G A 2: 167,276,741 (GRCm39) R78H probably benign Het
Sptbn1 T C 11: 30,089,429 (GRCm39) D611G possibly damaging Het
Sstr2 G A 11: 113,516,080 (GRCm39) probably null Het
Tcf7 G T 11: 52,144,765 (GRCm39) T286N probably benign Het
Txndc5 A G 13: 38,712,179 (GRCm39) M69T possibly damaging Het
Usp48 T A 4: 137,341,074 (GRCm39) V358E probably damaging Het
Vmn2r1 T A 3: 64,012,374 (GRCm39) I745K possibly damaging Het
Zfp354b A G 11: 50,813,581 (GRCm39) I448T possibly damaging Het
Zfp523 A T 17: 28,420,381 (GRCm39) T189S probably 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
R5432:Aasdhppt UTSW 9 4,309,349 (GRCm39) nonsense probably null
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'- ACTAGATGTGAGTGACCCAGGC -3'
(R):5'- CTGGTAACGTCTGTTGCGAG -3'

Sequencing Primer
(F):5'- AGGCTGAAGACGGTCGCAC -3'
(R):5'- AGGTGCTGCCCCTTTGC -3'
Posted On 2018-05-24