Incidental Mutation 'IGL02948:Aass'
ID 364867
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 # IGL02948
Quality Score
Status
Chromosome 6
Chromosomal Location 23072172-23132985 bp(-) (GRCm39)
Type of Mutation splice site
DNA Base Change (assembly) A to T at 23094318 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000115079 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000031707] [ENSMUST00000149864]
AlphaFold Q99K67
Predicted Effect probably benign
Transcript: ENSMUST00000031707
SMART Domains Protein: ENSMUSP00000031707
Gene: ENSMUSG00000029695

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
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: 54 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ano3 A T 2: 110,527,363 (GRCm39) probably benign Het
Arpp21 T C 9: 112,005,268 (GRCm39) Y193C probably damaging Het
Atm G A 9: 53,364,740 (GRCm39) probably benign Het
Ceacam13 C T 7: 17,744,988 (GRCm39) probably benign Het
Cenpi T A X: 133,250,017 (GRCm39) C599S possibly damaging Het
Clec7a A C 6: 129,442,441 (GRCm39) D195E possibly damaging Het
Cnksr1 T C 4: 133,962,417 (GRCm39) probably null Het
Cntn1 A G 15: 92,143,891 (GRCm39) T285A probably benign Het
Dusp4 G T 8: 35,285,726 (GRCm39) G329V probably damaging Het
Emb C A 13: 117,409,602 (GRCm39) probably benign Het
Esyt1 A T 10: 128,355,040 (GRCm39) S496T probably damaging Het
Evpl T C 11: 116,112,648 (GRCm39) T1681A probably damaging Het
Fam131b A C 6: 42,297,926 (GRCm39) probably benign Het
Fam162b T C 10: 51,463,392 (GRCm39) M92V probably damaging Het
Fbxw2 T C 2: 34,695,723 (GRCm39) *455W probably null Het
Gm12886 A G 4: 121,280,234 (GRCm39) L14P unknown Het
Gpc4 A T X: 51,163,178 (GRCm39) V235E probably damaging Het
Gss A G 2: 155,419,541 (GRCm39) L170P probably damaging Het
Hbs1l C T 10: 21,217,610 (GRCm39) probably benign Het
Hhatl T C 9: 121,618,857 (GRCm39) M92V probably benign Het
Hhla1 A T 15: 65,814,542 (GRCm39) L194H probably damaging Het
Hivep2 C A 10: 14,004,757 (GRCm39) R452S probably benign Het
Homer2 C A 7: 81,299,393 (GRCm39) W24L probably damaging Het
Lhcgr A T 17: 89,050,050 (GRCm39) L492H probably damaging Het
Lrba C A 3: 86,217,691 (GRCm39) probably null Het
Lrp2 G T 2: 69,318,181 (GRCm39) P2090Q probably damaging Het
Lyl1 C T 8: 85,429,300 (GRCm39) P3L possibly damaging Het
Madd T A 2: 90,973,172 (GRCm39) M1497L probably benign Het
Naprt C T 15: 75,764,206 (GRCm39) R336Q probably damaging Het
Nars1 A G 18: 64,638,266 (GRCm39) C266R possibly damaging Het
Or10v1 T A 19: 11,874,145 (GRCm39) Y253* probably null Het
Or5k8 T A 16: 58,644,451 (GRCm39) Q207L probably benign Het
Pard3 A T 8: 128,032,975 (GRCm39) T190S probably benign Het
Pstpip2 A G 18: 77,942,507 (GRCm39) N86S probably benign Het
Ptgfrn T C 3: 100,980,135 (GRCm39) T402A probably benign Het
Rnf130 T C 11: 49,943,598 (GRCm39) probably benign Het
Ropn1l T C 15: 31,451,325 (GRCm39) D53G possibly damaging Het
Rps6ka2 G A 17: 7,521,849 (GRCm39) probably null Het
Rtn2 T C 7: 19,027,036 (GRCm39) S17P probably damaging Het
Shank2 T C 7: 143,963,373 (GRCm39) V327A probably benign Het
Slc22a16 T G 10: 40,449,958 (GRCm39) Y131* probably null Het
Slc28a2 T A 2: 122,288,458 (GRCm39) M583K possibly damaging Het
Slco1a6 G T 6: 142,078,961 (GRCm39) probably null Het
Slfn8 T A 11: 82,894,078 (GRCm39) I854F probably damaging Het
Strip1 T C 3: 107,520,582 (GRCm39) R823G probably benign Het
Stxbp2 A T 8: 3,691,971 (GRCm39) I538F probably benign Het
Tcl1b5 C T 12: 105,145,273 (GRCm39) T79M probably benign Het
Tmem104 G T 11: 115,088,122 (GRCm39) A36S probably damaging Het
Trim55 T A 3: 19,725,116 (GRCm39) L211Q probably damaging Het
Trim80 T C 11: 115,332,419 (GRCm39) W204R possibly damaging Het
Ttbk1 G A 17: 46,757,256 (GRCm39) T1126I probably benign Het
Ubqln2 C T X: 152,282,692 (GRCm39) Q415* probably null Het
Unc13a C T 8: 72,103,193 (GRCm39) R931H possibly damaging Het
Utp4 T A 8: 107,621,273 (GRCm39) S17T 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
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 2015-12-18