Incidental Mutation 'R7184:Aass'
ID 559173
Institutional Source Beutler Lab
Gene Symbol Aass
Ensembl Gene ENSMUSG00000029695
Gene Name aminoadipate-semialdehyde synthase
Synonyms LOR/SDH, Lorsdh
MMRRC Submission 045236-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R7184 (G1)
Quality Score 225.009
Status Validated
Chromosome 6
Chromosomal Location 23072172-23132985 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 23094219 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Proline at position 500 (S500P)
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: S500P

PolyPhen 2 Score 0.554 (Sensitivity: 0.88; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000031707
Gene: ENSMUSG00000029695
AA Change: S500P

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 probably damaging
Transcript: ENSMUST00000149864
AA Change: S90P

PolyPhen 2 Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000115079
Gene: ENSMUSG00000029695
AA Change: S90P

DomainStartEndE-ValueType
Pfam:Saccharop_dh 73 209 8.2e-45 PFAM
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.7%
  • 20x: 99.0%
Validation Efficiency 100% (63/63)
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: 64 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aldh9a1 T A 1: 167,184,965 (GRCm39) N292K probably benign Het
Art2b A T 7: 101,229,658 (GRCm39) S80R probably benign Het
Atp6v1b2 G T 8: 69,555,219 (GRCm39) A194S possibly damaging Het
Bsnd T C 4: 106,349,109 (GRCm39) M44V probably damaging Het
Cadps2 A T 6: 23,583,428 (GRCm39) V383E probably benign Het
Cd93 T C 2: 148,284,459 (GRCm39) T296A possibly damaging Het
Cdk15 G T 1: 59,304,814 (GRCm39) E138D probably benign Het
Cdon A G 9: 35,375,191 (GRCm39) I406V probably benign Het
Cfhr4 A G 1: 139,660,822 (GRCm39) V622A possibly damaging Het
Cyp3a41a A G 5: 145,642,663 (GRCm39) V232A probably benign Het
Dbndd1 T A 8: 124,235,860 (GRCm39) D130V probably damaging Het
Dnah14 C T 1: 181,532,094 (GRCm39) R2294* probably null Het
Eddm3b A G 14: 51,354,387 (GRCm39) Y125C probably damaging Het
Eif1ad14 G A 12: 87,886,492 (GRCm39) R46W possibly damaging Het
Enah A T 1: 181,749,957 (GRCm39) V294E probably damaging Het
Farp2 A G 1: 93,531,137 (GRCm39) E545G probably damaging Het
Farsb T C 1: 78,458,994 (GRCm39) E22G possibly damaging Het
Fcsk G A 8: 111,613,788 (GRCm39) P758S probably damaging Het
Fezf1 A G 6: 23,247,835 (GRCm39) V80A probably benign Het
Fpr2 T C 17: 18,113,533 (GRCm39) Y39H unknown Het
Fsd1l C A 4: 53,694,054 (GRCm39) R344S probably damaging Het
Fxyd1 G T 7: 30,751,401 (GRCm39) R90S unknown Het
Galnt4 T A 10: 98,944,466 (GRCm39) Y64N probably damaging Het
Gatb C T 3: 85,544,258 (GRCm39) Q409* probably null Het
Glipr2 A C 4: 43,968,667 (GRCm39) D73A possibly damaging Het
Gm40460 ACCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAG ACCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAG 7: 141,794,450 (GRCm39) probably benign Het
Gpr88 C T 3: 116,045,643 (GRCm39) V223I possibly damaging Het
Gtf2h3 A G 5: 124,722,067 (GRCm39) N55S probably benign Het
Htr4 T A 18: 62,570,498 (GRCm39) C184* probably null Het
Ighv6-3 T A 12: 114,355,475 (GRCm39) R71S probably benign Het
Itpr2 G C 6: 146,212,585 (GRCm39) I1510M possibly damaging Het
Keap1 T C 9: 21,145,134 (GRCm39) Q292R probably benign Het
Mab21l4 T C 1: 93,082,237 (GRCm39) N294S probably benign Het
Malt1 A C 18: 65,580,764 (GRCm39) E219D probably benign Het
Manba T C 3: 135,228,915 (GRCm39) V279A possibly damaging Het
Map4k5 T A 12: 69,921,095 (GRCm39) H41L probably benign Het
Mcm2 T G 6: 88,868,776 (GRCm39) Y327S probably damaging Het
Nectin3 A G 16: 46,215,484 (GRCm39) I503T possibly damaging Het
Nqo1 T C 8: 108,119,279 (GRCm39) I99M probably damaging Het
Nrxn2 A G 19: 6,540,582 (GRCm39) H845R probably damaging Het
Otogl C T 10: 107,599,061 (GRCm39) C2254Y probably damaging Het
Pmm1 T C 15: 81,840,415 (GRCm39) N110S probably damaging Het
Poc1b G T 10: 98,970,199 (GRCm39) C68F probably benign Het
Polr1b A G 2: 128,965,842 (GRCm39) Y828C possibly damaging Het
Prl3d1 A G 13: 27,282,619 (GRCm39) H119R probably damaging Het
Pum3 A G 19: 27,403,412 (GRCm39) S30P probably benign Het
Rgl2 T C 17: 34,153,964 (GRCm39) F457L possibly damaging Het
Rusc1 T C 3: 88,999,194 (GRCm39) E196G possibly damaging Het
Sf3a3 A G 4: 124,608,772 (GRCm39) K29E probably benign Het
Slc13a1 A T 6: 24,092,311 (GRCm39) I475K probably damaging Het
Slc26a5 G T 5: 22,042,244 (GRCm39) Y237* probably null Het
Slc7a14 C T 3: 31,281,212 (GRCm39) G366D probably damaging Het
Tbc1d5 A G 17: 51,107,110 (GRCm39) V482A probably benign Het
Tdrd5 G T 1: 156,087,505 (GRCm39) Q883K probably benign Het
Tet2 T C 3: 133,179,391 (GRCm39) Y1258C probably damaging Het
Upf2 A G 2: 6,028,131 (GRCm39) D739G unknown Het
Vmn1r122 A T 7: 20,867,820 (GRCm39) F78L probably benign Het
Vmn1r75 A T 7: 11,614,915 (GRCm39) K216* probably null Het
Vmn2r11 A T 5: 109,201,281 (GRCm39) Y408N probably damaging Het
Wscd1 T A 11: 71,679,543 (GRCm39) V472D probably damaging Het
Zdbf2 G T 1: 63,345,664 (GRCm39) V1348F possibly damaging Het
Zfp442 G T 2: 150,250,056 (GRCm39) H615Q possibly damaging Het
Zfp457 C A 13: 67,442,065 (GRCm39) C170F possibly damaging Het
Zscan10 A G 17: 23,826,003 (GRCm39) probably null 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
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
Predicted Primers PCR Primer
(F):5'- TGGTTGGTCATGTCAGAGCC -3'
(R):5'- TAGCATGTCATTCTAAGTGCAGG -3'

Sequencing Primer
(F):5'- GGTCATGTCAGAGCCTATTTCAAG -3'
(R):5'- CATTCTAAGTGCAGGGAGATTTTG -3'
Posted On 2019-06-26