Incidental Mutation 'IGL01617:Aass'
ID 92428
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Aass
Ensembl Gene ENSMUSG00000029695
Gene Name aminoadipate-semialdehyde synthase
Synonyms LOR/SDH, Lorsdh
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # IGL01617
Quality Score
Status
Chromosome 6
Chromosomal Location 23072172-23132985 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 23115149 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Phenylalanine at position 160 (I160F)
Ref Sequence ENSEMBL: ENSMUSP00000031707 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000031707] [ENSMUST00000149864]
AlphaFold Q99K67
Predicted Effect possibly damaging
Transcript: ENSMUST00000031707
AA Change: I160F

PolyPhen 2 Score 0.886 (Sensitivity: 0.82; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000031707
Gene: ENSMUSG00000029695
AA Change: I160F

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
Predicted Effect noncoding transcript
Transcript: ENSMUST00000138063
Predicted Effect probably benign
Transcript: ENSMUST00000149864
SMART Domains Protein: ENSMUSP00000115079
Gene: ENSMUSG00000029695

DomainStartEndE-ValueType
Pfam:Saccharop_dh 73 209 8.2e-45 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000152280
Coding Region Coverage
Validation Efficiency
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: 27 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Cacna1d C T 14: 29,824,328 (GRCm39) A1030T probably damaging Het
Ceacam13 A T 7: 17,745,308 (GRCm39) D126V possibly damaging Het
Cep68 G T 11: 20,189,510 (GRCm39) Q501K probably benign Het
Cfhr1 A T 1: 139,481,417 (GRCm39) C154* probably null Het
Chd3 A G 11: 69,249,060 (GRCm39) probably benign Het
Chrna5 A G 9: 54,912,297 (GRCm39) M262V probably damaging Het
Csrnp2 T C 15: 100,382,524 (GRCm39) Y172C probably benign Het
Dzip1 G T 14: 119,118,477 (GRCm39) P752Q probably benign Het
Frem1 G A 4: 82,854,376 (GRCm39) T1630I probably benign Het
Gabrr1 G A 4: 33,162,634 (GRCm39) S400N probably benign Het
Hmcn1 C T 1: 150,547,783 (GRCm39) A2723T probably benign Het
Htt A G 5: 35,034,099 (GRCm39) H1895R possibly damaging Het
Kif21a T C 15: 90,879,840 (GRCm39) probably benign Het
Mitf A G 6: 97,973,389 (GRCm39) I241V probably benign Het
Mterf1b A T 5: 4,246,503 (GRCm39) D48V probably benign Het
Nmbr G T 10: 14,646,173 (GRCm39) R349M probably benign Het
Pik3r4 T C 9: 105,532,164 (GRCm39) S579P probably benign Het
Polr2i T C 7: 29,931,817 (GRCm39) F16S possibly damaging Het
Psmg2 G A 18: 67,786,293 (GRCm39) V218I probably benign Het
Rgs11 A G 17: 26,427,224 (GRCm39) H385R probably damaging Het
Rufy4 G A 1: 74,168,513 (GRCm39) G99R probably damaging Het
Slc29a1 A G 17: 45,900,375 (GRCm39) F185S probably benign Het
Spag17 G A 3: 100,016,824 (GRCm39) V2200I possibly damaging Het
Trappc14 A T 5: 138,260,478 (GRCm39) L47Q probably damaging Het
Ttc7b G T 12: 100,352,215 (GRCm39) A414D possibly damaging Het
Ugt2b37 A T 5: 87,399,738 (GRCm39) W257R probably damaging Het
Ythdc2 A G 18: 44,974,482 (GRCm39) I381M possibly damaging 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
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
R9212: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
Posted On 2013-12-09