Incidental Mutation 'IGL02678:Aasdh'
ID 303263
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Aasdh
Ensembl Gene ENSMUSG00000055923
Gene Name aminoadipate-semialdehyde dehydrogenase
Synonyms A230062G08Rik
Accession Numbers
Essential gene? Probably non essential (E-score: 0.159) question?
Stock # IGL02678
Quality Score
Status
Chromosome 5
Chromosomal Location 77021506-77053361 bp(-) (GRCm39)
Type of Mutation splice site
DNA Base Change (assembly) A to G at 77035867 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000117639 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000069709] [ENSMUST00000120963] [ENSMUST00000123682] [ENSMUST00000126741] [ENSMUST00000146570]
AlphaFold Q80WC9
Predicted Effect probably benign
Transcript: ENSMUST00000069709
SMART Domains Protein: ENSMUSP00000069279
Gene: ENSMUSG00000055923

DomainStartEndE-ValueType
Pfam:AMP-binding 7 449 1.3e-50 PFAM
Pfam:AMP-binding_C 458 526 7.4e-6 PFAM
Pfam:PP-binding 556 628 1.2e-6 PFAM
PQQ 775 808 5.29e-1 SMART
PQQ 818 850 4.37e-2 SMART
PQQ 860 892 2.3e1 SMART
PQQ 901 934 2.83e1 SMART
Blast:PQQ 943 973 2e-9 BLAST
PQQ 982 1014 2.61e2 SMART
PQQ 1029 1061 8.53e0 SMART
Blast:PQQ 1070 1100 2e-12 BLAST
Predicted Effect probably benign
Transcript: ENSMUST00000120963
SMART Domains Protein: ENSMUSP00000113792
Gene: ENSMUSG00000055923

DomainStartEndE-ValueType
Pfam:AMP-binding 7 449 1.3e-50 PFAM
Pfam:AMP-binding_C 458 526 7.4e-6 PFAM
Pfam:PP-binding 556 628 1.2e-6 PFAM
PQQ 775 808 5.29e-1 SMART
PQQ 818 850 4.37e-2 SMART
PQQ 860 892 2.3e1 SMART
PQQ 901 934 2.83e1 SMART
Blast:PQQ 943 973 2e-9 BLAST
PQQ 982 1014 2.61e2 SMART
PQQ 1029 1061 8.53e0 SMART
Blast:PQQ 1070 1100 2e-12 BLAST
Predicted Effect noncoding transcript
Transcript: ENSMUST00000123059
Predicted Effect probably benign
Transcript: ENSMUST00000123682
SMART Domains Protein: ENSMUSP00000121050
Gene: ENSMUSG00000055923

DomainStartEndE-ValueType
Pfam:AMP-binding 7 231 1.7e-23 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000126741
SMART Domains Protein: ENSMUSP00000118854
Gene: ENSMUSG00000055923

DomainStartEndE-ValueType
Pfam:AMP-binding 7 403 7.5e-51 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000135697
Predicted Effect probably benign
Transcript: ENSMUST00000146570
SMART Domains Protein: ENSMUSP00000117639
Gene: ENSMUSG00000055923

DomainStartEndE-ValueType
Pfam:AMP-binding 7 449 2.1e-58 PFAM
Pfam:PP-binding 556 628 1e-7 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000201283
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: The gene product is a cytosolic enzyme involved in the production of alpha-aminoadipic acid from alpha-aminoadipic semialdehyde. It is postulated that this enzyme plays a role in lysine metabolism. There is currently debate regarding this enzyme's putative requirement of pyrroloquinoline quinine as an essential cofactor. A related pseudogene has been identified on chromosome 2. [provided by RefSeq, Jan 2010]
Allele List at MGI

All alleles(14) : Gene trapped(14)

Other mutations in this stock
Total: 57 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adgrb1 A G 15: 74,410,177 (GRCm39) E272G probably damaging Het
Alcam G A 16: 52,094,401 (GRCm39) P416S probably damaging Het
B3galt1 A G 2: 67,949,254 (GRCm39) H323R probably benign Het
Bahcc1 G A 11: 120,163,697 (GRCm39) S665N probably damaging Het
Birc6 T C 17: 74,956,898 (GRCm39) S3631P probably damaging Het
Capn3 A C 2: 120,333,479 (GRCm39) N621T probably damaging Het
Cblif T C 19: 11,725,839 (GRCm39) M43T probably damaging Het
Ccdc162 G A 10: 41,437,151 (GRCm39) H480Y probably damaging Het
Ccr2 T A 9: 123,906,783 (GRCm39) D354E probably benign Het
Cdc42bpb T G 12: 111,292,530 (GRCm39) D335A probably damaging Het
Cdcp3 A G 7: 130,830,646 (GRCm39) Y360C probably damaging Het
Chrd G T 16: 20,552,770 (GRCm39) R89L probably damaging Het
Cops2 T C 2: 125,686,831 (GRCm39) R91G probably benign Het
Ddi1 T C 9: 6,266,106 (GRCm39) T88A probably benign Het
Dnai1 A C 4: 41,602,917 (GRCm39) E140A probably benign Het
Eif1ad17 C A 12: 87,978,946 (GRCm39) P110Q possibly damaging Het
Gcn1 A G 5: 115,751,814 (GRCm39) D2063G probably damaging Het
Gdpd4 A T 7: 97,623,584 (GRCm39) probably benign Het
Gng7 C A 10: 80,787,518 (GRCm39) L48F probably damaging Het
Htt G T 5: 35,057,246 (GRCm39) C2725F probably damaging Het
Inpp4b A G 8: 82,583,373 (GRCm39) K159R probably damaging Het
Insr G T 8: 3,223,570 (GRCm39) N854K probably benign Het
Ktn1 A T 14: 47,971,610 (GRCm39) probably null Het
Lcat A G 8: 106,668,572 (GRCm39) probably null Het
Mb21d2 T C 16: 28,646,801 (GRCm39) E391G probably benign Het
Mms19 A G 19: 41,942,915 (GRCm39) S354P possibly damaging Het
Mx2 G A 16: 97,357,320 (GRCm39) probably null Het
Mycl G A 4: 122,893,776 (GRCm39) R192Q probably damaging Het
Mzf1 A G 7: 12,786,836 (GRCm39) V78A probably benign Het
Nipbl G T 15: 8,380,594 (GRCm39) P733T possibly damaging Het
Nploc4 A G 11: 120,280,198 (GRCm39) I450T probably benign Het
Omd A T 13: 49,745,757 (GRCm39) E389V probably benign Het
Or8g30 C T 9: 39,230,217 (GRCm39) S231N probably benign Het
Oxgr1 A G 14: 120,259,580 (GRCm39) L209P probably damaging Het
Pak1 A C 7: 97,543,209 (GRCm39) T291P probably damaging Het
Pcmtd1 T A 1: 7,240,045 (GRCm39) I338K probably damaging Het
Phrf1 A G 7: 140,840,195 (GRCm39) D364G probably damaging Het
Pomk G A 8: 26,473,135 (GRCm39) P273S probably damaging Het
Psg22 A T 7: 18,453,418 (GRCm39) I38F probably damaging Het
Rbks G T 5: 31,830,757 (GRCm39) T42N probably damaging Het
Rrbp1 A G 2: 143,832,107 (GRCm39) V20A probably damaging Het
Six4 T C 12: 73,159,408 (GRCm39) Y176C probably damaging Het
Slc11a2 T A 15: 100,310,081 (GRCm39) M9L possibly damaging Het
Slc16a11 T C 11: 70,106,242 (GRCm39) L112S probably damaging Het
Slc25a28 A T 19: 43,655,586 (GRCm39) probably benign Het
Slc30a3 G A 5: 31,245,676 (GRCm39) R237* probably null Het
Slco1a8 A T 6: 141,954,444 (GRCm39) Y10N probably damaging Het
Smc1b G A 15: 84,949,201 (GRCm39) R1237* probably null Het
Smtn T C 11: 3,476,353 (GRCm39) E585G possibly damaging Het
Spatc1 A T 15: 76,176,572 (GRCm39) D441V probably damaging Het
Tenm4 A G 7: 96,545,426 (GRCm39) N2481D probably damaging Het
Tnks2 A T 19: 36,823,143 (GRCm39) I137F possibly damaging Het
Trip11 T C 12: 101,849,649 (GRCm39) K1472E probably damaging Het
Ttn C A 2: 76,708,660 (GRCm39) E1846* probably null Het
Vwa8 A G 14: 79,221,640 (GRCm39) D532G probably damaging Het
Zfp268 A T 4: 145,349,067 (GRCm39) H168L probably damaging Het
Zfp977 G A 7: 42,232,419 (GRCm39) T14I probably damaging Het
Other mutations in Aasdh
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00823:Aasdh APN 5 77,026,381 (GRCm39) unclassified probably benign
IGL01013:Aasdh APN 5 77,034,053 (GRCm39) missense possibly damaging 0.68
IGL01558:Aasdh APN 5 77,036,464 (GRCm39) missense possibly damaging 0.89
IGL02544:Aasdh APN 5 77,049,961 (GRCm39) missense probably benign 0.27
IGL02614:Aasdh APN 5 77,044,215 (GRCm39) splice site probably benign
IGL02739:Aasdh APN 5 77,026,364 (GRCm39) missense possibly damaging 0.64
IGL02947:Aasdh APN 5 77,049,957 (GRCm39) missense probably benign 0.01
IGL03116:Aasdh APN 5 77,049,936 (GRCm39) splice site probably null
IGL03398:Aasdh APN 5 77,039,566 (GRCm39) missense probably benign 0.02
1mM(1):Aasdh UTSW 5 77,044,464 (GRCm39) missense possibly damaging 0.91
R0183:Aasdh UTSW 5 77,034,082 (GRCm39) missense probably benign 0.05
R0226:Aasdh UTSW 5 77,049,849 (GRCm39) missense probably damaging 1.00
R0367:Aasdh UTSW 5 77,049,961 (GRCm39) missense probably damaging 0.99
R0386:Aasdh UTSW 5 77,044,308 (GRCm39) missense probably damaging 0.98
R0529:Aasdh UTSW 5 77,024,114 (GRCm39) nonsense probably null
R0881:Aasdh UTSW 5 77,024,130 (GRCm39) missense probably damaging 1.00
R0882:Aasdh UTSW 5 77,024,130 (GRCm39) missense probably damaging 1.00
R1033:Aasdh UTSW 5 77,024,130 (GRCm39) missense probably damaging 1.00
R1034:Aasdh UTSW 5 77,024,130 (GRCm39) missense probably damaging 1.00
R1035:Aasdh UTSW 5 77,024,130 (GRCm39) missense probably damaging 1.00
R1036:Aasdh UTSW 5 77,024,130 (GRCm39) missense probably damaging 1.00
R1366:Aasdh UTSW 5 77,036,651 (GRCm39) missense probably benign 0.10
R1446:Aasdh UTSW 5 77,034,136 (GRCm39) missense probably benign 0.45
R1449:Aasdh UTSW 5 77,034,136 (GRCm39) missense probably benign 0.45
R1469:Aasdh UTSW 5 77,039,526 (GRCm39) missense probably damaging 0.97
R1469:Aasdh UTSW 5 77,039,526 (GRCm39) missense probably damaging 0.97
R1583:Aasdh UTSW 5 77,030,528 (GRCm39) missense probably benign 0.00
R1641:Aasdh UTSW 5 77,039,626 (GRCm39) missense probably benign 0.36
R1876:Aasdh UTSW 5 77,025,396 (GRCm39) missense probably damaging 1.00
R1895:Aasdh UTSW 5 77,039,551 (GRCm39) missense probably damaging 1.00
R1946:Aasdh UTSW 5 77,039,551 (GRCm39) missense probably damaging 1.00
R3615:Aasdh UTSW 5 77,036,629 (GRCm39) missense probably benign 0.20
R3616:Aasdh UTSW 5 77,036,629 (GRCm39) missense probably benign 0.20
R3746:Aasdh UTSW 5 77,036,501 (GRCm39) nonsense probably null
R3747:Aasdh UTSW 5 77,036,501 (GRCm39) nonsense probably null
R3748:Aasdh UTSW 5 77,036,501 (GRCm39) nonsense probably null
R3750:Aasdh UTSW 5 77,036,501 (GRCm39) nonsense probably null
R3836:Aasdh UTSW 5 77,026,315 (GRCm39) missense probably benign 0.32
R4857:Aasdh UTSW 5 77,035,131 (GRCm39) missense probably benign 0.01
R4928:Aasdh UTSW 5 77,044,535 (GRCm39) missense possibly damaging 0.65
R4937:Aasdh UTSW 5 77,036,501 (GRCm39) nonsense probably null
R5762:Aasdh UTSW 5 77,044,445 (GRCm39) missense probably benign 0.00
R5866:Aasdh UTSW 5 77,024,058 (GRCm39) missense probably damaging 1.00
R5940:Aasdh UTSW 5 77,030,745 (GRCm39) missense probably benign 0.07
R6253:Aasdh UTSW 5 77,034,105 (GRCm39) missense possibly damaging 0.81
R6542:Aasdh UTSW 5 77,030,902 (GRCm39) missense probably damaging 1.00
R6825:Aasdh UTSW 5 77,036,696 (GRCm39) splice site probably null
R6868:Aasdh UTSW 5 77,039,527 (GRCm39) missense probably damaging 0.99
R6876:Aasdh UTSW 5 77,044,288 (GRCm39) missense probably damaging 1.00
R6961:Aasdh UTSW 5 77,024,148 (GRCm39) missense probably damaging 1.00
R6963:Aasdh UTSW 5 77,044,303 (GRCm39) missense probably damaging 0.99
R7069:Aasdh UTSW 5 77,024,203 (GRCm39) missense probably benign 0.03
R7220:Aasdh UTSW 5 77,049,772 (GRCm39) missense probably benign 0.13
R7545:Aasdh UTSW 5 77,027,861 (GRCm39) missense probably damaging 1.00
R7673:Aasdh UTSW 5 77,030,555 (GRCm39) missense probably benign 0.03
R7703:Aasdh UTSW 5 77,035,924 (GRCm39) missense probably damaging 0.99
R7890:Aasdh UTSW 5 77,031,969 (GRCm39) missense probably benign 0.19
R7978:Aasdh UTSW 5 77,036,515 (GRCm39) missense probably damaging 0.99
R8046:Aasdh UTSW 5 77,044,325 (GRCm39) missense probably benign
R8152:Aasdh UTSW 5 77,044,305 (GRCm39) missense probably damaging 1.00
R8425:Aasdh UTSW 5 77,034,124 (GRCm39) missense possibly damaging 0.49
R8884:Aasdh UTSW 5 77,039,641 (GRCm39) missense possibly damaging 0.94
R9028:Aasdh UTSW 5 77,023,977 (GRCm39) missense probably damaging 1.00
R9361:Aasdh UTSW 5 77,030,225 (GRCm39) missense probably benign 0.01
R9519:Aasdh UTSW 5 77,030,572 (GRCm39) missense probably benign 0.00
Z1088:Aasdh UTSW 5 77,049,004 (GRCm39) splice site probably null
Z1176:Aasdh UTSW 5 77,039,643 (GRCm39) critical splice acceptor site probably null
Posted On 2015-04-16