Incidental Mutation 'R8863:Aasdhppt'
ID 675774
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 068679-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R8863 (G1)
Quality Score 225.009
Status Validated
Chromosome 9
Chromosomal Location 4294793-4309471 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to A at 4309424 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Alanine to Serine at position 5 (A5S)
Ref Sequence ENSEMBL: ENSMUSP00000053971 (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: A5S

PolyPhen 2 Score 0.740 (Sensitivity: 0.85; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000053971
Gene: ENSMUSG00000025894
AA Change: A5S

DomainStartEndE-ValueType
Pfam:ACPS 125 244 6e-19 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000212066
AA Change: A5S

PolyPhen 2 Score 0.594 (Sensitivity: 0.87; Specificity: 0.91)
Predicted Effect probably benign
Transcript: ENSMUST00000212221
Predicted Effect possibly damaging
Transcript: ENSMUST00000212897
AA Change: A5S

PolyPhen 2 Score 0.594 (Sensitivity: 0.87; Specificity: 0.91)
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.3%
  • 20x: 97.3%
Validation Efficiency 100% (44/44)
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: 44 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
9130023H24Rik A G 7: 127,836,123 (GRCm39) S157P possibly damaging Het
Aoc1l2 T C 6: 48,907,042 (GRCm39) L14P probably benign Het
Asb16 T C 11: 102,168,058 (GRCm39) Y373H probably damaging Het
Axin1 T C 17: 26,362,375 (GRCm39) S240P probably benign Het
C2cd5 T C 6: 142,987,088 (GRCm39) I505V possibly damaging Het
Camk2g A G 14: 20,810,244 (GRCm39) L305P probably damaging Het
Ccm2 A G 11: 6,535,211 (GRCm39) K156E probably damaging Het
Cdh23 G T 10: 60,212,613 (GRCm39) Y1600* probably null Het
Cyp2c29 A G 19: 39,261,810 (GRCm39) Q16R probably benign Het
Ebf1 T A 11: 44,774,666 (GRCm39) V221E probably damaging Het
Fcgbpl1 A G 7: 27,831,006 (GRCm39) D73G probably damaging Het
Gtpbp1 A G 15: 79,591,262 (GRCm39) E125G possibly damaging Het
Idh2 TCCCAGG T 7: 79,748,079 (GRCm39) probably benign Het
Igfbp3 A G 11: 7,163,568 (GRCm39) C75R probably damaging Het
Itgb4 T A 11: 115,875,898 (GRCm39) C478* probably null Het
L3mbtl4 T A 17: 68,986,419 (GRCm39) C488S probably benign Het
Lysmd4 T C 7: 66,873,493 (GRCm39) S43P probably damaging Het
Mocs2 A G 13: 114,962,815 (GRCm39) K167E probably damaging Het
Mpl C A 4: 118,314,602 (GRCm39) V23F Het
Muc4 A T 16: 32,570,280 (GRCm39) I447F possibly damaging Het
Mxi1 G A 19: 53,360,126 (GRCm39) G283S probably damaging Het
Ncf2 A G 1: 152,711,864 (GRCm39) *526W probably null Het
Oas1a C T 5: 121,043,943 (GRCm39) G63D probably damaging Het
Or2q1 A T 6: 42,794,780 (GRCm39) Y125F probably damaging Het
Or5ac15 G T 16: 58,939,712 (GRCm39) C240* probably null Het
Or8c17 T C 9: 38,180,655 (GRCm39) V274A probably damaging Het
Piwil4 T C 9: 14,631,383 (GRCm39) N409S probably benign Het
Pkhd1l1 C T 15: 44,433,382 (GRCm39) Q3421* probably null Het
Plekha7 T A 7: 115,753,875 (GRCm39) D664V probably damaging Het
Pole T C 5: 110,437,233 (GRCm39) M66T possibly damaging Het
Pon2 C T 6: 5,265,480 (GRCm39) probably null Het
Pop4 G A 7: 37,962,649 (GRCm39) A205V possibly damaging Het
Ppp6r3 T A 19: 3,521,030 (GRCm39) E590D probably damaging Het
Ptpn6 T A 6: 124,709,309 (GRCm39) I96F probably damaging Het
Rfk T A 19: 17,372,590 (GRCm39) N37K probably benign Het
Syne1 G T 10: 5,049,527 (GRCm39) Q7535K probably damaging Het
Tcf15 A T 2: 151,986,023 (GRCm39) I160F probably damaging Het
Thap1 CAGCATCTGCTCGGAGCA CAGCA 8: 26,650,884 (GRCm39) probably null Het
Tmem160 T C 7: 16,186,889 (GRCm39) M1T probably null Het
Tpp1 C T 7: 105,398,814 (GRCm39) R205H probably benign Het
Trnt1 T C 6: 106,751,443 (GRCm39) F140S probably damaging Het
Ttf1 T C 2: 28,969,492 (GRCm39) probably null Het
Vmn1r172 A T 7: 23,359,210 (GRCm39) I32F probably benign Het
Vwc2l T A 1: 70,768,063 (GRCm39) N42K 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
R5432:Aasdhppt UTSW 9 4,309,349 (GRCm39) nonsense probably null
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
R9592:Aasdhppt UTSW 9 4,309,312 (GRCm39) missense probably benign 0.39
Predicted Primers PCR Primer
(F):5'- AAGTCGCAGGCCTCAAGTAC -3'
(R):5'- AACCCTGAACTAAAGGTGGG -3'

Sequencing Primer
(F):5'- AGGCCTCAAGTACCAAGGCTG -3'
(R):5'- TGTGAAACTTCTAAGCCGGGC -3'
Posted On 2021-07-15