Incidental Mutation 'R9212:Aass'
ID 698935
Institutional Source Beutler Lab
Gene Symbol Aass
Ensembl Gene ENSMUSG00000029695
Gene Name aminoadipate-semialdehyde synthase
Synonyms LOR/SDH, Lorsdh
MMRRC Submission
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R9212 (G1)
Quality Score 225.009
Status Validated
Chromosome 6
Chromosomal Location 23072172-23132985 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 23075767 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glycine at position 790 (D790G)
Ref Sequence ENSEMBL: ENSMUSP00000031707 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000031707]
AlphaFold Q99K67
Predicted Effect probably damaging
Transcript: ENSMUST00000031707
AA Change: D790G

PolyPhen 2 Score 0.978 (Sensitivity: 0.76; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000031707
Gene: ENSMUSG00000029695
AA Change: D790G

DomainStartEndE-ValueType
low complexity region 2 20 N/A INTRINSIC
AlaDh_PNT_N 27 157 2.76e-22 SMART
AlaDh_PNT_C 197 399 7.94e-23 SMART
Pfam:Sacchrp_dh_NADP 483 598 2.8e-26 PFAM
Pfam:Sacchrp_dh_C 602 916 1.2e-88 PFAM
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.7%
  • 20x: 99.1%
Validation Efficiency 100% (57/57)
MGI Phenotype FUNCTION: This gene encodes a bifunctional mitochondrial protein that catalyzes the first two steps in the lysine degradation pathway. The N-terminus contains lysine-ketoglutarate reductase activity and converts lysine to saccharopine, whereas the C-terminus contains saccharopine dehydrogenase activity and converts saccharopine to alpha-aminoadipate semialdehyde. Mutations in a human gene encoding a highly similar protein are associated with familial hyperlysinemia. [provided by RefSeq, Jul 2008]
Allele List at MGI

All alleles(10) : Targeted(2) Gene trapped(8

Other mutations in this stock
Total: 59 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcb4 C T 5: 9,005,591 (GRCm39) P1158L probably damaging Het
Actn3 T C 19: 4,914,565 (GRCm39) D521G probably benign Het
Adhfe1 A T 1: 9,637,036 (GRCm39) D396V possibly damaging Het
Arhgap28 A G 17: 68,162,430 (GRCm39) M639T probably benign Het
Asb18 T C 1: 89,880,447 (GRCm39) T453A probably benign Het
Asxl3 T C 18: 22,655,389 (GRCm39) I1133T probably benign Het
C2cd4b G A 9: 67,667,028 (GRCm39) R8H probably damaging Het
Ccdc91 A G 6: 147,508,398 (GRCm39) I375V unknown Het
Cdh24 T A 14: 54,878,679 (GRCm39) probably benign Het
Cfap57 T A 4: 118,436,649 (GRCm39) I916F possibly damaging Het
Cfap65 G A 1: 74,959,567 (GRCm39) T861I probably benign Het
Chd1 T G 17: 15,950,767 (GRCm39) S153A possibly damaging Het
Cit A T 5: 116,013,952 (GRCm39) I222F possibly damaging Het
Clip1 T A 5: 123,721,399 (GRCm39) K1165N probably damaging Het
Cln6 A G 9: 62,757,973 (GRCm39) H244R probably damaging Het
Col19a1 A T 1: 24,500,555 (GRCm39) probably null Het
Dhx57 T G 17: 80,576,338 (GRCm39) D584A probably damaging Het
Dnah14 G A 1: 181,628,852 (GRCm39) V4123M possibly damaging Het
Fam193a T C 5: 34,597,481 (GRCm39) V94A probably benign Het
Fzd6 A G 15: 38,898,289 (GRCm39) H543R probably damaging Het
Gad2 T A 2: 22,571,399 (GRCm39) C446S probably damaging Het
Gm29106 A G 1: 118,127,270 (GRCm39) R321G probably damaging Het
Gon4l T C 3: 88,803,730 (GRCm39) V1447A probably benign Het
Hus1b A C 13: 31,130,858 (GRCm39) I267S possibly damaging Het
Kifap3 C T 1: 163,610,600 (GRCm39) L27F probably damaging Het
Lancl2 A C 6: 57,714,673 (GRCm39) I431L probably benign Het
Ltbp2 G A 12: 84,839,824 (GRCm39) P1069S probably damaging Het
Mrgprb2 A T 7: 48,202,392 (GRCm39) V111D possibly damaging Het
Mta3 A T 17: 84,015,846 (GRCm39) N16I probably damaging Het
Npepps G T 11: 97,129,047 (GRCm39) A379E probably damaging Het
Nppc G T 1: 86,597,619 (GRCm39) Q50K possibly damaging Het
Or2a51 T A 6: 43,178,756 (GRCm39) Y59* probably null Het
Or5p54 C A 7: 107,554,017 (GRCm39) H56Q probably benign Het
Orc2 A G 1: 58,515,695 (GRCm39) L271P probably damaging Het
Papolg T C 11: 23,823,817 (GRCm39) T334A probably benign Het
Pikfyve T C 1: 65,291,719 (GRCm39) S1313P probably damaging Het
Ppp2r3d T C 9: 101,063,175 (GRCm39) T154A probably benign Het
Ptprz1 A G 6: 23,050,493 (GRCm39) M2254V probably damaging Het
Rabgap1 T C 2: 37,377,152 (GRCm39) V328A probably damaging Het
Rnf17 T C 14: 56,761,785 (GRCm39) V1616A probably damaging Het
Rph3a T A 5: 121,086,005 (GRCm39) H477L possibly damaging Het
Rttn T C 18: 89,064,286 (GRCm39) probably null Het
Ryr2 A C 13: 11,844,560 (GRCm39) I392S probably damaging Het
Sbsn A G 7: 30,452,427 (GRCm39) N481D probably benign Het
Sf3a3 G A 4: 124,621,921 (GRCm39) E354K possibly damaging Het
Slc15a2 A C 16: 36,602,053 (GRCm39) Y81* probably null Het
Slc5a2 C A 7: 127,867,939 (GRCm39) Q202K probably damaging Het
Spata31h1 T C 10: 82,118,979 (GRCm39) N4677S possibly damaging Het
Stxbp2 G C 8: 3,686,220 (GRCm39) K313N Het
Tbc1d2b A T 9: 90,087,183 (GRCm39) L932Q possibly damaging Het
Trim24 A T 6: 37,896,335 (GRCm39) Q264L probably benign Het
Tubgcp3 A G 8: 12,691,200 (GRCm39) V446A possibly damaging Het
Unc93b1 G A 19: 3,993,557 (GRCm39) R333Q probably damaging Het
Wdr24 T C 17: 26,043,472 (GRCm39) V98A probably benign Het
Wdr62 G A 7: 29,942,563 (GRCm39) S1015L probably damaging Het
Zfp280d A G 9: 72,269,789 (GRCm39) *975W probably null Het
Zfp317 A T 9: 19,558,442 (GRCm39) K219* probably null Het
Zfp974 A G 7: 27,610,052 (GRCm39) S558P possibly damaging Het
Zfp986 A G 4: 145,625,798 (GRCm39) K153E probably benign Het
Other mutations in Aass
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00916:Aass APN 6 23,075,851 (GRCm39) missense probably benign 0.10
IGL01465:Aass APN 6 23,114,838 (GRCm39) critical splice donor site probably null
IGL01617:Aass APN 6 23,115,149 (GRCm39) missense possibly damaging 0.89
IGL01810:Aass APN 6 23,107,633 (GRCm39) missense probably damaging 0.99
IGL02024:Aass APN 6 23,113,705 (GRCm39) missense probably damaging 1.00
IGL02167:Aass APN 6 23,122,721 (GRCm39) intron probably benign
IGL02339:Aass APN 6 23,093,965 (GRCm39) missense probably damaging 0.99
IGL02720:Aass APN 6 23,122,702 (GRCm39) intron probably benign
IGL02877:Aass APN 6 23,078,875 (GRCm39) nonsense probably null
IGL02948:Aass APN 6 23,094,318 (GRCm39) splice site probably benign
PIT4651001:Aass UTSW 6 23,118,750 (GRCm39) missense probably benign 0.00
R0152:Aass UTSW 6 23,074,688 (GRCm39) missense probably damaging 1.00
R0196:Aass UTSW 6 23,109,519 (GRCm39) missense probably damaging 1.00
R0546:Aass UTSW 6 23,077,076 (GRCm39) critical splice donor site probably null
R0841:Aass UTSW 6 23,075,810 (GRCm39) missense probably benign
R0848:Aass UTSW 6 23,114,984 (GRCm39) missense probably damaging 0.98
R0942:Aass UTSW 6 23,075,151 (GRCm39) splice site probably benign
R1082:Aass UTSW 6 23,093,907 (GRCm39) missense probably damaging 1.00
R1159:Aass UTSW 6 23,115,137 (GRCm39) missense probably damaging 0.99
R1730:Aass UTSW 6 23,121,018 (GRCm39) missense probably damaging 1.00
R1818:Aass UTSW 6 23,075,857 (GRCm39) critical splice acceptor site probably null
R1906:Aass UTSW 6 23,072,984 (GRCm39) missense probably benign 0.00
R2004:Aass UTSW 6 23,092,561 (GRCm39) nonsense probably null
R2191:Aass UTSW 6 23,078,865 (GRCm39) missense possibly damaging 0.91
R3690:Aass UTSW 6 23,091,328 (GRCm39) missense probably benign 0.09
R3843:Aass UTSW 6 23,092,495 (GRCm39) nonsense probably null
R3879:Aass UTSW 6 23,122,520 (GRCm39) missense probably damaging 1.00
R4080:Aass UTSW 6 23,109,497 (GRCm39) missense possibly damaging 0.83
R4081:Aass UTSW 6 23,109,497 (GRCm39) missense possibly damaging 0.83
R4082:Aass UTSW 6 23,109,497 (GRCm39) missense possibly damaging 0.83
R4348:Aass UTSW 6 23,113,738 (GRCm39) missense probably benign 0.03
R4622:Aass UTSW 6 23,092,329 (GRCm39) missense probably damaging 1.00
R4701:Aass UTSW 6 23,075,855 (GRCm39) nonsense probably null
R4823:Aass UTSW 6 23,107,690 (GRCm39) missense probably benign
R5108:Aass UTSW 6 23,094,207 (GRCm39) missense probably damaging 0.99
R5248:Aass UTSW 6 23,109,437 (GRCm39) missense probably benign 0.08
R5481:Aass UTSW 6 23,113,475 (GRCm39) missense probably benign 0.00
R5776:Aass UTSW 6 23,107,649 (GRCm39) missense possibly damaging 0.66
R5883:Aass UTSW 6 23,072,993 (GRCm39) missense probably benign 0.04
R6356:Aass UTSW 6 23,093,901 (GRCm39) missense probably damaging 1.00
R6594:Aass UTSW 6 23,113,432 (GRCm39) missense probably benign 0.00
R6784:Aass UTSW 6 23,093,895 (GRCm39) missense probably null 1.00
R6855:Aass UTSW 6 23,114,844 (GRCm39) missense probably damaging 0.97
R7184:Aass UTSW 6 23,094,219 (GRCm39) missense possibly damaging 0.55
R7208:Aass UTSW 6 23,074,629 (GRCm39) missense probably damaging 0.99
R7464:Aass UTSW 6 23,077,152 (GRCm39) missense possibly damaging 0.69
R7750:Aass UTSW 6 23,075,199 (GRCm39) missense possibly damaging 0.58
R7821:Aass UTSW 6 23,120,929 (GRCm39) missense probably damaging 1.00
R8262:Aass UTSW 6 23,107,709 (GRCm39) missense possibly damaging 0.94
R8303:Aass UTSW 6 23,092,367 (GRCm39) missense probably benign 0.03
R8430:Aass UTSW 6 23,078,981 (GRCm39) missense probably benign 0.01
R8817:Aass UTSW 6 23,097,195 (GRCm39) nonsense probably null
R8941:Aass UTSW 6 23,075,261 (GRCm39) splice site probably benign
R9065:Aass UTSW 6 23,075,746 (GRCm39) missense probably benign 0.38
R9067:Aass UTSW 6 23,077,123 (GRCm39) missense probably benign 0.00
R9068:Aass UTSW 6 23,075,828 (GRCm39) missense probably benign 0.01
R9119:Aass UTSW 6 23,094,000 (GRCm39) missense probably benign 0.05
R9210:Aass UTSW 6 23,075,767 (GRCm39) missense probably damaging 0.98
R9372:Aass UTSW 6 23,078,856 (GRCm39) missense probably damaging 1.00
R9517:Aass UTSW 6 23,113,528 (GRCm39) missense probably damaging 1.00
R9626:Aass UTSW 6 23,127,502 (GRCm39) missense unknown
R9704:Aass UTSW 6 23,120,887 (GRCm39) missense possibly damaging 0.50
Z1176:Aass UTSW 6 23,078,856 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- ATCCAGGTCATAATCACCATCAGG -3'
(R):5'- CCCAATGTCTAGGTTGGTTTATTTC -3'

Sequencing Primer
(F):5'- GGCCAACTAATGAGCATTAATCAG -3'
(R):5'- AGTTGGAATTTCCCGCTC -3'
Posted On 2022-02-07