Incidental Mutation 'IGL02947:Aasdh'
ID 364805
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 # IGL02947
Quality Score
Status
Chromosome 5
Chromosomal Location 77021506-77053361 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 77049957 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 13 (V13A)
Ref Sequence ENSEMBL: ENSMUSP00000121050 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000069709] [ENSMUST00000120963] [ENSMUST00000123682] [ENSMUST00000126741] [ENSMUST00000142450] [ENSMUST00000146570] [ENSMUST00000135954]
AlphaFold Q80WC9
Predicted Effect probably benign
Transcript: ENSMUST00000069709
AA Change: V13A

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000069279
Gene: ENSMUSG00000055923
AA Change: V13A

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
AA Change: V13A

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000113792
Gene: ENSMUSG00000055923
AA Change: V13A

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: ENSMUST00000123682
AA Change: V13A

PolyPhen 2 Score 0.009 (Sensitivity: 0.96; Specificity: 0.77)
SMART Domains Protein: ENSMUSP00000121050
Gene: ENSMUSG00000055923
AA Change: V13A

DomainStartEndE-ValueType
Pfam:AMP-binding 7 231 1.7e-23 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000126741
AA Change: V13A

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
SMART Domains Protein: ENSMUSP00000118854
Gene: ENSMUSG00000055923
AA Change: V13A

DomainStartEndE-ValueType
Pfam:AMP-binding 7 403 7.5e-51 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000134805
Predicted Effect noncoding transcript
Transcript: ENSMUST00000135697
Predicted Effect unknown
Transcript: ENSMUST00000142450
AA Change: V13A
Predicted Effect probably benign
Transcript: ENSMUST00000146570
AA Change: V13A

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000117639
Gene: ENSMUSG00000055923
AA Change: V13A

DomainStartEndE-ValueType
Pfam:AMP-binding 7 449 2.1e-58 PFAM
Pfam:PP-binding 556 628 1e-7 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000135954
AA Change: V13A

PolyPhen 2 Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000136080
Predicted Effect noncoding transcript
Transcript: ENSMUST00000154548
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: 49 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Atp8b5 T A 4: 43,305,774 (GRCm39) I106K possibly damaging Het
Cdh15 T C 8: 123,592,111 (GRCm39) S633P probably benign Het
Celsr3 A G 9: 108,723,134 (GRCm39) T228A probably benign Het
Cfap90 T A 13: 68,759,312 (GRCm39) F95L probably benign Het
Chrng A G 1: 87,137,606 (GRCm39) probably null Het
Coprs T C 8: 13,935,782 (GRCm39) E79G probably damaging Het
Cpb2 A C 14: 75,520,758 (GRCm39) Y391S probably damaging Het
Cyp2j8 A T 4: 96,358,815 (GRCm39) I368N probably damaging Het
Ddah1 T C 3: 145,464,842 (GRCm39) F76L probably benign Het
Eif2ak4 A G 2: 118,261,514 (GRCm39) T573A probably benign Het
Exoc6b T A 6: 84,835,411 (GRCm39) M375L probably benign Het
Fasn T C 11: 120,706,502 (GRCm39) E994G probably damaging Het
Fem1a T A 17: 56,565,640 (GRCm39) C578S probably benign Het
Garnl3 A G 2: 32,936,606 (GRCm39) S188P probably damaging Het
Gpn3 T C 5: 122,516,551 (GRCm39) V60A possibly damaging Het
Hnrnpr A G 4: 136,043,690 (GRCm39) D59G probably damaging Het
Hydin A T 8: 111,145,094 (GRCm39) E815V probably damaging Het
Itga9 C T 9: 118,487,601 (GRCm39) T228M probably damaging Het
Kpna7 T C 5: 144,930,884 (GRCm39) I320M probably damaging Het
Lnpep T C 17: 17,791,234 (GRCm39) T437A probably damaging Het
Ltf C T 9: 110,868,015 (GRCm39) T48I probably benign Het
Masp1 T G 16: 23,313,476 (GRCm39) D153A probably damaging Het
Mcpt9 T A 14: 56,264,373 (GRCm39) R241* probably null Het
Msantd4 T A 9: 4,384,787 (GRCm39) S171T probably damaging Het
Nos1 G A 5: 118,081,382 (GRCm39) V1229M probably damaging Het
Npc1l1 A G 11: 6,179,246 (GRCm39) S55P probably benign Het
Oc90 T C 15: 65,759,983 (GRCm39) K212R probably benign Het
Or2a12 A G 6: 42,904,830 (GRCm39) I222V probably benign Het
Or5t15 C T 2: 86,681,130 (GRCm39) R304K probably benign Het
Or6c202 C A 10: 128,996,439 (GRCm39) C138F probably damaging Het
Prr12 T A 7: 44,697,980 (GRCm39) Q645L unknown Het
Psmd9 A G 5: 123,384,278 (GRCm39) I145V probably benign Het
Rbks T C 5: 31,817,407 (GRCm39) I121V probably benign Het
Rnase2b A T 14: 51,400,264 (GRCm39) Y115F probably damaging Het
Sarnp A G 10: 128,675,723 (GRCm39) E78G probably benign Het
Sltm A G 9: 70,498,946 (GRCm39) S1007G probably benign Het
Spata31d1c T A 13: 65,182,759 (GRCm39) Y100* probably null Het
Srrm2 T C 17: 24,029,720 (GRCm39) S222P probably benign Het
Sult3a1 G A 10: 33,740,046 (GRCm39) R35Q possibly damaging Het
Tfap4 T C 16: 4,369,224 (GRCm39) D132G probably damaging Het
Tmem53 C T 4: 117,125,285 (GRCm39) Q111* probably null Het
Togaram1 T A 12: 65,068,274 (GRCm39) V1709D probably damaging Het
Trpm3 A T 19: 22,878,483 (GRCm39) D628V probably damaging Het
Ttn T A 2: 76,544,838 (GRCm39) K31009* probably null Het
Vldlr A G 19: 27,217,120 (GRCm39) I58V probably benign Het
Vmn1r4 T C 6: 56,934,231 (GRCm39) F245S probably benign Het
Vrtn T A 12: 84,695,258 (GRCm39) S3T probably damaging Het
Vwa7 A G 17: 35,242,476 (GRCm39) probably null Het
Wrnip1 T A 13: 33,006,053 (GRCm39) Y632N 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
IGL02678:Aasdh APN 5 77,035,867 (GRCm39) splice site probably benign
IGL02739:Aasdh APN 5 77,026,364 (GRCm39) missense possibly damaging 0.64
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 2015-12-18