Incidental Mutation 'R3747:Aasdh'
ID 309852
Institutional Source Beutler Lab
Gene Symbol Aasdh
Ensembl Gene ENSMUSG00000055923
Gene Name aminoadipate-semialdehyde dehydrogenase
Synonyms A230062G08Rik
Accession Numbers

Genbank: NM_173765.3; Ensembl: ENSMUST00000120963

Essential gene? Probably non essential (E-score: 0.133) question?
Stock # R3747 (G1)
Quality Score 225
Status Not validated
Chromosome 5
Chromosomal Location 76873659-76905514 bp(-) (GRCm38)
Type of Mutation nonsense
DNA Base Change (assembly) C to A at 76888654 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Glutamic Acid to Stop codon at position 347 (E347*)
Ref Sequence ENSEMBL: ENSMUSP00000117639 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000069709] [ENSMUST00000120963] [ENSMUST00000123682] [ENSMUST00000126741] [ENSMUST00000146570]
AlphaFold Q80WC9
Predicted Effect probably null
Transcript: ENSMUST00000069709
AA Change: E347*
SMART Domains Protein: ENSMUSP00000069279
Gene: ENSMUSG00000055923
AA Change: E347*

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 null
Transcript: ENSMUST00000120963
AA Change: E347*
SMART Domains Protein: ENSMUSP00000113792
Gene: ENSMUSG00000055923
AA Change: E347*

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 null
Transcript: ENSMUST00000126741
AA Change: E347*
SMART Domains Protein: ENSMUSP00000118854
Gene: ENSMUSG00000055923
AA Change: E347*

DomainStartEndE-ValueType
Pfam:AMP-binding 7 403 7.5e-51 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000135697
Predicted Effect probably null
Transcript: ENSMUST00000146570
AA Change: E347*
SMART Domains Protein: ENSMUSP00000117639
Gene: ENSMUSG00000055923
AA Change: E347*

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
Meta Mutation Damage Score 0.9755 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.4%
  • 20x: 95.6%
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: 60 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abhd18 A G 3: 40,933,573 (GRCm38) N284S probably benign Het
Adam12 T C 7: 134,172,865 (GRCm38) D5G probably damaging Het
Adam26b A C 8: 43,521,197 (GRCm38) V256G probably benign Het
Aga T A 8: 53,517,821 (GRCm38) I192N probably benign Het
Ago1 A G 4: 126,461,044 (GRCm38) I125T probably benign Het
Alk A G 17: 71,911,565 (GRCm38) S762P probably damaging Het
Bckdk C A 7: 127,905,418 (GRCm38) R105S probably damaging Het
Cby3 T C 11: 50,359,674 (GRCm38) *236R probably null Het
Cfhr1 C A 1: 139,557,634 (GRCm38) probably null Het
Clcn1 T A 6: 42,299,915 (GRCm38) Y393N probably damaging Het
Cx3cr1 T C 9: 120,052,066 (GRCm38) H90R probably damaging Het
Cyp3a16 T A 5: 145,442,071 (GRCm38) K380M probably damaging Het
Cyp4v3 G A 8: 45,315,708 (GRCm38) R272* probably null Het
Dazap1 C T 10: 80,287,664 (GRCm38) R391C possibly damaging Het
Dgkh T A 14: 78,584,445 (GRCm38) E876V probably damaging Het
Dnah8 A T 17: 30,784,174 (GRCm38) K3616* probably null Het
E2f1 C G 2: 154,564,022 (GRCm38) G144R probably damaging Het
Fam221a A G 6: 49,372,696 (GRCm38) D2G probably damaging Het
Fam43a C T 16: 30,601,846 (GRCm38) T416I probably benign Het
Fam71a T G 1: 191,164,010 (GRCm38) Q145H probably damaging Het
Fam90a1a C A 8: 21,963,205 (GRCm38) S192* probably null Het
Foxd1 G C 13: 98,355,916 (GRCm38) A433P unknown Het
Gm10152 G A 7: 144,763,200 (GRCm38) probably null Het
Gm12800 T A 4: 101,909,876 (GRCm38) D107E possibly damaging Het
Hipk3 T A 2: 104,441,283 (GRCm38) R435* probably null Het
Hnrnpab T A 11: 51,602,646 (GRCm38) Y245F probably benign Het
Islr2 A T 9: 58,199,642 (GRCm38) S112T probably benign Het
Itgb7 A T 15: 102,222,777 (GRCm38) V280D probably damaging Het
Kndc1 G A 7: 139,927,904 (GRCm38) probably null Het
Lrba T G 3: 86,375,953 (GRCm38) L1858R probably damaging Het
Mroh2b G A 15: 4,952,246 (GRCm38) W1513* probably null Het
Nbeal1 A G 1: 60,195,023 (GRCm38) D51G probably damaging Het
Ncoa6 G A 2: 155,411,641 (GRCm38) P939L probably benign Het
Ndst3 A G 3: 123,671,552 (GRCm38) I257T probably benign Het
Nolc1 CAG CAGAAG 19: 46,081,356 (GRCm38) probably benign Het
Nuf2 T A 1: 169,525,376 (GRCm38) N20I probably damaging Het
Osbpl7 T C 11: 97,056,053 (GRCm38) V223A probably damaging Het
Pcm1 T C 8: 41,332,004 (GRCm38) I2064T probably benign Het
Pkd1 A G 17: 24,591,461 (GRCm38) R90G possibly damaging Het
Pkdrej T A 15: 85,821,077 (GRCm38) K219N probably damaging Het
Ppil4 A T 10: 7,814,693 (GRCm38) Q370L probably benign Het
Primpol A T 8: 46,599,813 (GRCm38) D154E probably benign Het
Rb1cc1 T G 1: 6,248,742 (GRCm38) V778G possibly damaging Het
Sgms1 A T 19: 32,159,594 (GRCm38) S191T possibly damaging Het
Sned1 T A 1: 93,261,751 (GRCm38) F303Y probably damaging Het
Sp9 T A 2: 73,274,308 (GRCm38) M402K probably damaging Het
Spon1 T A 7: 114,016,791 (GRCm38) V297E possibly damaging Het
Spon1 T C 7: 113,766,384 (GRCm38) L19P probably damaging Het
Tlr5 T C 1: 182,974,439 (GRCm38) I436T probably benign Het
Tmem63a G A 1: 180,963,114 (GRCm38) D446N possibly damaging Het
Tpcn2 T C 7: 145,255,523 (GRCm38) H682R probably damaging Het
Ugt1a6a T C 1: 88,139,149 (GRCm38) Y226H probably damaging Het
Upf1 G T 8: 70,333,350 (GRCm38) N975K possibly damaging Het
Ush2a G A 1: 188,810,292 (GRCm38) G3352S probably benign Het
Vmn1r39 T C 6: 66,804,870 (GRCm38) N155D probably benign Het
Vwa5b2 A G 16: 20,598,326 (GRCm38) probably benign Het
Yipf4 G A 17: 74,496,672 (GRCm38) probably null Het
Zdhhc17 T C 10: 110,944,420 (GRCm38) I624M probably benign Het
Zfhx4 G A 3: 5,243,165 (GRCm38) E484K possibly damaging Het
Zswim4 G A 8: 84,212,047 (GRCm38) P1069S possibly damaging Het
Other mutations in Aasdh
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00823:Aasdh APN 5 76,878,534 (GRCm38) unclassified probably benign
IGL01013:Aasdh APN 5 76,886,206 (GRCm38) missense possibly damaging 0.68
IGL01558:Aasdh APN 5 76,888,617 (GRCm38) missense possibly damaging 0.89
IGL02544:Aasdh APN 5 76,902,114 (GRCm38) missense probably benign 0.27
IGL02614:Aasdh APN 5 76,896,368 (GRCm38) splice site probably benign
IGL02678:Aasdh APN 5 76,888,020 (GRCm38) splice site probably benign
IGL02739:Aasdh APN 5 76,878,517 (GRCm38) missense possibly damaging 0.64
IGL02947:Aasdh APN 5 76,902,110 (GRCm38) missense probably benign 0.01
IGL03116:Aasdh APN 5 76,902,089 (GRCm38) splice site probably null
IGL03398:Aasdh APN 5 76,891,719 (GRCm38) missense probably benign 0.02
1mM(1):Aasdh UTSW 5 76,896,617 (GRCm38) missense possibly damaging 0.91
R0183:Aasdh UTSW 5 76,886,235 (GRCm38) missense probably benign 0.05
R0226:Aasdh UTSW 5 76,902,002 (GRCm38) missense probably damaging 1.00
R0367:Aasdh UTSW 5 76,902,114 (GRCm38) missense probably damaging 0.99
R0386:Aasdh UTSW 5 76,896,461 (GRCm38) missense probably damaging 0.98
R0529:Aasdh UTSW 5 76,876,267 (GRCm38) nonsense probably null
R0881:Aasdh UTSW 5 76,876,283 (GRCm38) missense probably damaging 1.00
R0882:Aasdh UTSW 5 76,876,283 (GRCm38) missense probably damaging 1.00
R1033:Aasdh UTSW 5 76,876,283 (GRCm38) missense probably damaging 1.00
R1034:Aasdh UTSW 5 76,876,283 (GRCm38) missense probably damaging 1.00
R1035:Aasdh UTSW 5 76,876,283 (GRCm38) missense probably damaging 1.00
R1036:Aasdh UTSW 5 76,876,283 (GRCm38) missense probably damaging 1.00
R1366:Aasdh UTSW 5 76,888,804 (GRCm38) missense probably benign 0.10
R1446:Aasdh UTSW 5 76,886,289 (GRCm38) missense probably benign 0.45
R1449:Aasdh UTSW 5 76,886,289 (GRCm38) missense probably benign 0.45
R1469:Aasdh UTSW 5 76,891,679 (GRCm38) missense probably damaging 0.97
R1469:Aasdh UTSW 5 76,891,679 (GRCm38) missense probably damaging 0.97
R1583:Aasdh UTSW 5 76,882,681 (GRCm38) missense probably benign 0.00
R1641:Aasdh UTSW 5 76,891,779 (GRCm38) missense probably benign 0.36
R1876:Aasdh UTSW 5 76,877,549 (GRCm38) missense probably damaging 1.00
R1895:Aasdh UTSW 5 76,891,704 (GRCm38) missense probably damaging 1.00
R1946:Aasdh UTSW 5 76,891,704 (GRCm38) missense probably damaging 1.00
R3615:Aasdh UTSW 5 76,888,782 (GRCm38) missense probably benign 0.20
R3616:Aasdh UTSW 5 76,888,782 (GRCm38) missense probably benign 0.20
R3746:Aasdh UTSW 5 76,888,654 (GRCm38) nonsense probably null
R3748:Aasdh UTSW 5 76,888,654 (GRCm38) nonsense probably null
R3750:Aasdh UTSW 5 76,888,654 (GRCm38) nonsense probably null
R3836:Aasdh UTSW 5 76,878,468 (GRCm38) missense probably benign 0.32
R4857:Aasdh UTSW 5 76,887,284 (GRCm38) missense probably benign 0.01
R4928:Aasdh UTSW 5 76,896,688 (GRCm38) missense possibly damaging 0.65
R4937:Aasdh UTSW 5 76,888,654 (GRCm38) nonsense probably null
R5762:Aasdh UTSW 5 76,896,598 (GRCm38) missense probably benign 0.00
R5866:Aasdh UTSW 5 76,876,211 (GRCm38) missense probably damaging 1.00
R5940:Aasdh UTSW 5 76,882,898 (GRCm38) missense probably benign 0.07
R6253:Aasdh UTSW 5 76,886,258 (GRCm38) missense possibly damaging 0.81
R6542:Aasdh UTSW 5 76,883,055 (GRCm38) missense probably damaging 1.00
R6825:Aasdh UTSW 5 76,888,849 (GRCm38) splice site probably null
R6868:Aasdh UTSW 5 76,891,680 (GRCm38) missense probably damaging 0.99
R6876:Aasdh UTSW 5 76,896,441 (GRCm38) missense probably damaging 1.00
R6961:Aasdh UTSW 5 76,876,301 (GRCm38) missense probably damaging 1.00
R6963:Aasdh UTSW 5 76,896,456 (GRCm38) missense probably damaging 0.99
R7069:Aasdh UTSW 5 76,876,356 (GRCm38) missense probably benign 0.03
R7220:Aasdh UTSW 5 76,901,925 (GRCm38) missense probably benign 0.13
R7545:Aasdh UTSW 5 76,880,014 (GRCm38) missense probably damaging 1.00
R7673:Aasdh UTSW 5 76,882,708 (GRCm38) missense probably benign 0.03
R7703:Aasdh UTSW 5 76,888,077 (GRCm38) missense probably damaging 0.99
R7890:Aasdh UTSW 5 76,884,122 (GRCm38) missense probably benign 0.19
R7978:Aasdh UTSW 5 76,888,668 (GRCm38) missense probably damaging 0.99
R8046:Aasdh UTSW 5 76,896,478 (GRCm38) missense probably benign
R8152:Aasdh UTSW 5 76,896,458 (GRCm38) missense probably damaging 1.00
R8425:Aasdh UTSW 5 76,886,277 (GRCm38) missense possibly damaging 0.49
R8884:Aasdh UTSW 5 76,891,794 (GRCm38) missense possibly damaging 0.94
R9028:Aasdh UTSW 5 76,876,130 (GRCm38) missense probably damaging 1.00
R9361:Aasdh UTSW 5 76,882,378 (GRCm38) missense probably benign 0.01
R9519:Aasdh UTSW 5 76,882,725 (GRCm38) missense probably benign 0.00
Z1088:Aasdh UTSW 5 76,901,157 (GRCm38) splice site probably null
Z1176:Aasdh UTSW 5 76,891,796 (GRCm38) critical splice acceptor site probably null
Predicted Primers PCR Primer
(F):5'- GGCAAGAGTGTGCTTCCTAC -3'
(R):5'- CAACGCCAACATTGCTGAG -3'

Sequencing Primer
(F):5'- TACGCAAGGACATGACTTGTAC -3'
(R):5'- CGCCAACATTGCTGAGAAGATTTG -3'
Posted On 2015-04-17