Incidental Mutation 'R4928:Aasdh'
ID 444521
Institutional Source Beutler Lab
Gene Symbol Aasdh
Ensembl Gene ENSMUSG00000055923
Gene Name aminoadipate-semialdehyde dehydrogenase
Synonyms A230062G08Rik
MMRRC Submission 042529-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.158) question?
Stock # R4928 (G1)
Quality Score 225
Status Validated
Chromosome 5
Chromosomal Location 76873659-76905514 bp(-) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) T to A at 76896688 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Lysine to Asparagine at position 118 (K118N)
Ref Sequence ENSEMBL: ENSMUSP00000113792 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000069709] [ENSMUST00000120963] [ENSMUST00000123682] [ENSMUST00000126741] [ENSMUST00000146570]
AlphaFold Q80WC9
Predicted Effect possibly damaging
Transcript: ENSMUST00000069709
AA Change: K118N

PolyPhen 2 Score 0.652 (Sensitivity: 0.87; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000069279
Gene: ENSMUSG00000055923
AA Change: K118N

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 possibly damaging
Transcript: ENSMUST00000120963
AA Change: K118N

PolyPhen 2 Score 0.652 (Sensitivity: 0.87; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000113792
Gene: ENSMUSG00000055923
AA Change: K118N

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 possibly damaging
Transcript: ENSMUST00000123682
AA Change: K118N

PolyPhen 2 Score 0.461 (Sensitivity: 0.89; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000121050
Gene: ENSMUSG00000055923
AA Change: K118N

DomainStartEndE-ValueType
Pfam:AMP-binding 7 231 1.7e-23 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000126741
AA Change: K118N

PolyPhen 2 Score 0.288 (Sensitivity: 0.91; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000118854
Gene: ENSMUSG00000055923
AA Change: K118N

DomainStartEndE-ValueType
Pfam:AMP-binding 7 403 7.5e-51 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000135697
Predicted Effect noncoding transcript
Transcript: ENSMUST00000136080
Predicted Effect probably benign
Transcript: ENSMUST00000146570
AA Change: K118N

PolyPhen 2 Score 0.072 (Sensitivity: 0.94; Specificity: 0.84)
SMART Domains Protein: ENSMUSP00000117639
Gene: ENSMUSG00000055923
AA Change: K118N

DomainStartEndE-ValueType
Pfam:AMP-binding 7 449 2.1e-58 PFAM
Pfam:PP-binding 556 628 1e-7 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000154548
Predicted Effect noncoding transcript
Transcript: ENSMUST00000201283
Meta Mutation Damage Score 0.1139 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.3%
  • 10x: 96.3%
  • 20x: 92.5%
Validation Efficiency 98% (123/126)
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: 110 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A530021J07Rik G T 7: 83,155,878 (GRCm38) noncoding transcript Het
Abca14 A T 7: 120,324,580 (GRCm38) N1620I possibly damaging Het
Acap1 A T 11: 69,885,815 (GRCm38) S149T possibly damaging Het
Adgre1 T A 17: 57,444,064 (GRCm38) Y579* probably null Het
Aifm3 T C 16: 17,500,432 (GRCm38) probably benign Het
Aldh16a1 A G 7: 45,141,961 (GRCm38) W107R probably damaging Het
Amer2 A T 14: 60,379,445 (GRCm38) H363L possibly damaging Het
Arhgap10 A G 8: 77,426,328 (GRCm38) probably null Het
Arhgef6 A T X: 57,234,878 (GRCm38) D742E probably damaging Het
Astn2 A T 4: 65,729,407 (GRCm38) N731K probably damaging Het
Atp1a2 T C 1: 172,278,387 (GRCm38) T904A possibly damaging Het
Atr C T 9: 95,907,299 (GRCm38) R1503W probably damaging Het
Cdh3 G T 8: 106,536,610 (GRCm38) R97L probably benign Het
Chst2 C T 9: 95,406,006 (GRCm38) V96I probably benign Het
Cit T A 5: 115,985,797 (GRCm38) N1464K probably benign Het
Col17a1 A T 19: 47,670,458 (GRCm38) probably null Het
Col4a3 G A 1: 82,710,977 (GRCm38) probably benign Het
Copz1 T A 15: 103,291,330 (GRCm38) S57R probably damaging Het
Cpped1 A T 16: 11,828,279 (GRCm38) F227Y probably damaging Het
Cyp2j12 A T 4: 96,102,151 (GRCm38) probably null Het
Dctn1 T A 6: 83,189,207 (GRCm38) I195N possibly damaging Het
Dhrs7b A G 11: 60,851,925 (GRCm38) I148V probably benign Het
Dnah17 T C 11: 118,027,433 (GRCm38) D4096G probably damaging Het
Dnajc13 T C 9: 104,233,638 (GRCm38) N145D possibly damaging Het
Ecpas A G 4: 58,827,073 (GRCm38) V1020A probably damaging Het
Entrep2 G T 7: 64,759,368 (GRCm38) S426* probably null Het
Ercc6l2 T C 13: 63,894,813 (GRCm38) probably benign Het
Fads6 T G 11: 115,296,561 (GRCm38) I103L probably benign Het
Fat4 T G 3: 39,010,465 (GRCm38) Y4857D probably damaging Het
Fbxl14 T A 6: 119,480,710 (GRCm38) L284Q probably damaging Het
Fkbp9 T C 6: 56,849,670 (GRCm38) V85A possibly damaging Het
Galnt13 T A 2: 54,516,565 (GRCm38) V9E probably damaging Het
Gm14412 A T 2: 177,314,580 (GRCm38) S507R probably benign Het
Gm15142 T A X: 154,638,419 (GRCm38) noncoding transcript Het
Gm4787 T C 12: 81,378,838 (GRCm38) E182G probably benign Het
Gm6811 C A 17: 21,094,631 (GRCm38) noncoding transcript Het
Gm9791 A T 3: 34,005,069 (GRCm38) noncoding transcript Het
Hoxb7 A T 11: 96,289,510 (GRCm38) probably null Het
Ift122 T A 6: 115,915,858 (GRCm38) probably benign Het
Krt28 C T 11: 99,374,632 (GRCm38) V70I probably benign Het
Lig1 T C 7: 13,298,738 (GRCm38) S459P probably damaging Het
Lrfn3 C T 7: 30,360,623 (GRCm38) R59H possibly damaging Het
Mavs T C 2: 131,246,743 (GRCm38) V489A probably benign Het
Mcm8 C T 2: 132,839,479 (GRCm38) P625L probably benign Het
Megf10 G T 18: 57,240,673 (GRCm38) R181L probably benign Het
Mgrn1 G A 16: 4,927,862 (GRCm38) G440D probably benign Het
Mllt3 T C 4: 87,782,405 (GRCm38) probably null Het
Muc5ac T A 7: 141,817,902 (GRCm38) Y2613* probably null Het
Myh14 C T 7: 44,635,502 (GRCm38) G662S probably benign Het
Myod1 T A 7: 46,377,050 (GRCm38) N126K probably damaging Het
Nae1 A T 8: 104,516,142 (GRCm38) H439Q possibly damaging Het
Narf T A 11: 121,244,939 (GRCm38) V136E possibly damaging Het
Ncapd3 T A 9: 27,071,735 (GRCm38) C926* probably null Het
Ndufv2 C A 17: 66,092,658 (GRCm38) probably null Het
Neb T C 2: 52,212,975 (GRCm38) S449G possibly damaging Het
Nek10 C T 14: 14,930,577 (GRCm38) P698L probably damaging Het
Nox3 T A 17: 3,635,275 (GRCm38) E566V probably null Het
Oas1a C T 5: 120,905,724 (GRCm38) R115H probably benign Het
Or10ag60 C A 2: 87,608,143 (GRCm38) L252I probably benign Het
Or51b6 A G 7: 103,906,672 (GRCm38) T78A probably damaging Het
Or5w19 A G 2: 87,868,230 (GRCm38) M80V probably benign Het
Or8k30 T A 2: 86,509,125 (GRCm38) L222H probably damaging Het
Pbld2 A G 10: 63,047,999 (GRCm38) H142R probably damaging Het
Pcdha4 C T 18: 36,954,816 (GRCm38) T684M probably benign Het
Phc3 G T 3: 30,950,919 (GRCm38) T175N probably damaging Het
Pigs G T 11: 78,329,002 (GRCm38) V68L probably damaging Het
Pik3c2g T A 6: 139,967,802 (GRCm38) D857E possibly damaging Het
Pitpnm3 G A 11: 72,063,172 (GRCm38) P550S probably damaging Het
Pla2g15 G A 8: 106,163,218 (GRCm38) W374* probably null Het
Ptpn14 G A 1: 189,822,642 (GRCm38) C133Y probably damaging Het
Ptpn20 A G 14: 33,614,489 (GRCm38) N95S probably benign Het
Ptrh2 G T 11: 86,690,036 (GRCm38) V160F probably damaging Het
Rapgef3 T C 15: 97,757,375 (GRCm38) D486G probably damaging Het
Rev3l T G 10: 39,823,985 (GRCm38) S1493A probably benign Het
Rgs9 T A 11: 109,225,744 (GRCm38) D411V probably benign Het
Rgsl1 A T 1: 153,793,768 (GRCm38) Y291N probably damaging Het
Rprd2 A G 3: 95,764,537 (GRCm38) Y1185H probably damaging Het
Rpusd3 A G 6: 113,416,206 (GRCm38) probably benign Het
Scnn1a T C 6: 125,322,173 (GRCm38) I72T probably damaging Het
Sdk1 A T 5: 141,857,003 (GRCm38) probably benign Het
Sfmbt2 T C 2: 10,445,745 (GRCm38) L277P probably benign Het
Sgf29 A G 7: 126,664,982 (GRCm38) E73G probably damaging Het
Slc12a6 T A 2: 112,352,961 (GRCm38) F764L probably damaging Het
Slc4a2 T C 5: 24,435,342 (GRCm38) probably null Het
Slc9a3 T G 13: 74,157,719 (GRCm38) V285G probably damaging Het
Slc9c1 A G 16: 45,575,409 (GRCm38) T608A probably benign Het
Slfnl1 C T 4: 120,535,685 (GRCm38) R325C probably damaging Het
Smarcad1 T A 6: 65,074,914 (GRCm38) F344I probably benign Het
Snrnp70 A T 7: 45,377,281 (GRCm38) probably null Het
Sod2 C T 17: 13,008,186 (GRCm38) T9M probably benign Het
Spag5 T A 11: 78,314,373 (GRCm38) S633T probably damaging Het
Spta1 A T 1: 174,191,056 (GRCm38) I531L probably benign Het
Stra8 A G 6: 34,933,156 (GRCm38) E60G probably benign Het
Sult2a3 T A 7: 14,111,557 (GRCm38) I126F probably benign Het
Syt1 T C 10: 108,504,512 (GRCm38) H315R possibly damaging Het
Tanc2 T C 11: 105,867,762 (GRCm38) L783P probably damaging Het
Thbs2 C T 17: 14,678,900 (GRCm38) C646Y probably damaging Het
Ticam2 T A 18: 46,560,922 (GRCm38) K33* probably null Het
Trim17 T C 11: 58,954,301 (GRCm38) probably benign Het
Tsr1 G A 11: 74,907,879 (GRCm38) M691I probably benign Het
Ttn T A 2: 76,762,419 (GRCm38) I20790F probably damaging Het
Tubb2b A T 13: 34,128,185 (GRCm38) Y208* probably null Het
Ubr1 T A 2: 120,914,938 (GRCm38) I890F probably damaging Het
Usp54 T C 14: 20,562,192 (GRCm38) E852G probably damaging Het
Vmn2r78 T C 7: 86,954,627 (GRCm38) V671A probably damaging Het
Wipi1 T C 11: 109,579,649 (GRCm38) K315E probably benign Het
Xrn2 T C 2: 147,051,718 (GRCm38) V735A possibly damaging Het
Zdbf2 T A 1: 63,308,814 (GRCm38) D2117E possibly damaging Het
Zfp287 A T 11: 62,714,136 (GRCm38) C648* probably null Het
Zfp369 A G 13: 65,296,800 (GRCm38) T586A 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
R3747: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
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'- TCATGCCGCATGTCCATGTG -3'
(R):5'- CGGTTAAGCCACATTCGTG -3'

Sequencing Primer
(F):5'- TCTGGGGTCCTGCTCTCAG -3'
(R):5'- TGGAACTCACTCTGTAGC -3'
Posted On 2016-11-11