Incidental Mutation 'R1449:Aasdh'
ID 159120
Institutional Source Beutler Lab
Gene Symbol Aasdh
Ensembl Gene ENSMUSG00000055923
Gene Name aminoadipate-semialdehyde dehydrogenase
Synonyms A230062G08Rik
MMRRC Submission 039504-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.158) question?
Stock # R1449 (G1)
Quality Score 225
Status Not validated
Chromosome 5
Chromosomal Location 77021506-77053361 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 77034136 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Alanine to Threonine at position 472 (A472T)
Ref Sequence ENSEMBL: ENSMUSP00000117639 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000069709] [ENSMUST00000120963] [ENSMUST00000123682] [ENSMUST00000126741] [ENSMUST00000146570] [ENSMUST00000149602]
AlphaFold Q80WC9
Predicted Effect probably benign
Transcript: ENSMUST00000069709
AA Change: A472T

PolyPhen 2 Score 0.304 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000069279
Gene: ENSMUSG00000055923
AA Change: A472T

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: A472T

PolyPhen 2 Score 0.304 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000113792
Gene: ENSMUSG00000055923
AA Change: A472T

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
AA Change: A472T

PolyPhen 2 Score 0.450 (Sensitivity: 0.89; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000117639
Gene: ENSMUSG00000055923
AA Change: A472T

DomainStartEndE-ValueType
Pfam:AMP-binding 7 449 2.1e-58 PFAM
Pfam:PP-binding 556 628 1e-7 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000149602
SMART Domains Protein: ENSMUSP00000117489
Gene: ENSMUSG00000055923

DomainStartEndE-ValueType
PQQ 21 53 4.37e-2 SMART
PQQ 63 95 2.3e1 SMART
Blast:PQQ 104 130 2e-6 BLAST
PQQ 141 173 2.61e2 SMART
low complexity region 191 200 N/A INTRINSIC
Coding Region Coverage
  • 1x: 98.8%
  • 3x: 97.9%
  • 10x: 94.7%
  • 20x: 87.4%
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: 79 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700013G24Rik A G 4: 137,182,666 (GRCm39) N274D possibly damaging Het
6430571L13Rik T A 9: 107,219,689 (GRCm39) N47K probably damaging Het
Abca13 A G 11: 9,248,580 (GRCm39) T2776A probably damaging Het
Adamts10 T A 17: 33,764,613 (GRCm39) V711D probably damaging Het
Adrb3 G A 8: 27,717,415 (GRCm39) R345C probably damaging Het
Ak7 T C 12: 105,708,520 (GRCm39) V325A possibly damaging Het
Armc6 G A 8: 70,677,943 (GRCm39) L129F probably benign Het
Bend6 T C 1: 33,917,424 (GRCm39) N10S probably benign Het
Bmpr1b T C 3: 141,577,134 (GRCm39) E59G possibly damaging Het
Brd3 A G 2: 27,340,263 (GRCm39) probably null Het
Brd3 A G 2: 27,347,028 (GRCm39) Y369H probably damaging Het
Cacna1e C T 1: 154,361,408 (GRCm39) probably null Het
Camk4 A G 18: 33,072,528 (GRCm39) D27G probably damaging Het
Camkk1 T G 11: 72,924,710 (GRCm39) S308A probably damaging Het
Catsperb A G 12: 101,554,456 (GRCm39) T717A probably benign Het
Cdh23 A T 10: 60,212,730 (GRCm39) S1563R probably damaging Het
Cep44 A T 8: 56,993,985 (GRCm39) S197R probably benign Het
Col3a1 T A 1: 45,360,771 (GRCm39) I67N unknown Het
Dcaf12l1 T C X: 43,878,304 (GRCm39) T165A probably benign Het
Dicer1 T C 12: 104,695,502 (GRCm39) Y143C possibly damaging Het
Dlg5 A G 14: 24,185,711 (GRCm39) I1898T possibly damaging Het
Dnah1 T C 14: 30,985,908 (GRCm39) N3762D probably damaging Het
Dscaml1 A T 9: 45,653,521 (GRCm39) T1382S possibly damaging Het
Entpd3 A T 9: 120,395,555 (GRCm39) R513W probably damaging Het
Foxred1 A G 9: 35,120,738 (GRCm39) S132P probably damaging Het
Ftsj3 T C 11: 106,143,826 (GRCm39) I273V probably benign Het
Hsd17b7 C T 1: 169,787,251 (GRCm39) probably null Het
Iars1 T A 13: 49,887,186 (GRCm39) V1253D probably damaging Het
Iqsec1 T A 6: 90,667,790 (GRCm39) K216* probably null Het
Itga7 A G 10: 128,789,370 (GRCm39) D971G probably benign Het
Kcnk2 G A 1: 189,072,223 (GRCm39) S35L probably benign Het
Kif13a T C 13: 46,966,212 (GRCm39) Y402C probably damaging Het
Lamc1 A G 1: 153,126,241 (GRCm39) S484P probably benign Het
Lap3 T C 5: 45,666,861 (GRCm39) probably null Het
Lhx8 G T 3: 154,033,742 (GRCm39) S46* probably null Het
Lin7a T C 10: 107,159,813 (GRCm39) S42P probably damaging Het
Lrba G A 3: 86,261,585 (GRCm39) R1513Q probably damaging Het
Maml2 C A 9: 13,531,980 (GRCm39) P398Q possibly damaging Het
Mast2 T C 4: 116,166,210 (GRCm39) I1201V probably damaging Het
Mmp20 A T 9: 7,642,769 (GRCm39) D201V probably damaging Het
Morn5 T A 2: 35,947,092 (GRCm39) C123* probably null Het
Mrpl4 A G 9: 20,918,807 (GRCm39) K175E possibly damaging Het
Nav3 A T 10: 109,689,372 (GRCm39) S302T probably benign Het
Ndrg2 T C 14: 52,145,591 (GRCm39) Y217C probably damaging Het
Nfx1 A G 4: 40,976,803 (GRCm39) D159G probably damaging Het
Nlrp9b A T 7: 19,757,089 (GRCm39) T109S possibly damaging Het
Npepps A G 11: 97,097,980 (GRCm39) Y909H probably benign Het
Or10g1 A G 14: 52,648,024 (GRCm39) C102R probably damaging Het
Or11g7 A G 14: 50,691,378 (GRCm39) N290D probably damaging Het
Or51a25 A T 7: 102,373,397 (GRCm39) F100Y probably damaging Het
Or6c211 T A 10: 129,506,238 (GRCm39) D50V probably damaging Het
Or6c69b A C 10: 129,626,723 (GRCm39) V245G probably damaging Het
Pcdh1 T C 18: 38,322,929 (GRCm39) H968R probably damaging Het
Pde1b T A 15: 103,433,470 (GRCm39) I296N probably damaging Het
Phldb1 T A 9: 44,627,930 (GRCm39) T172S probably benign Het
Plxdc2 T C 2: 16,665,592 (GRCm39) V215A possibly damaging Het
Poln A G 5: 34,171,682 (GRCm39) I695T probably damaging Het
Pou6f2 G T 13: 18,347,000 (GRCm39) Q31K probably damaging Het
Psd T A 19: 46,313,250 (GRCm39) Y40F probably damaging Het
Rnf126 T C 10: 79,597,448 (GRCm39) N155D probably benign Het
Rpl36-ps3 C A 12: 12,962,032 (GRCm39) noncoding transcript Het
Rrp15 C A 1: 186,468,465 (GRCm39) V184F possibly damaging Het
Rslcan18 G T 13: 67,250,164 (GRCm39) L24M possibly damaging Het
Sall1 A G 8: 89,759,111 (GRCm39) I331T probably benign Het
Slamf7 A T 1: 171,468,606 (GRCm39) N95K possibly damaging Het
Slc1a6 T C 10: 78,635,951 (GRCm39) Y339H probably damaging Het
Slc39a8 A G 3: 135,532,446 (GRCm39) N72D probably benign Het
Slf1 A G 13: 77,231,568 (GRCm39) S604P probably damaging Het
Slfn4 C T 11: 83,079,819 (GRCm39) T110M probably benign Het
Tnpo1 T C 13: 99,015,220 (GRCm39) T116A probably damaging Het
Tor1b T C 2: 30,845,893 (GRCm39) I190T probably damaging Het
Ttn C A 2: 76,800,138 (GRCm39) E357* probably null Het
Tubg2 G T 11: 101,047,699 (GRCm39) E95* probably null Het
Ubap2 A G 4: 41,209,351 (GRCm39) probably null Het
Ube2i T C 17: 25,487,538 (GRCm39) D67G possibly damaging Het
Ubxn11 A G 4: 133,852,203 (GRCm39) E50G probably damaging Het
Wnk1 A G 6: 119,929,779 (GRCm39) V1246A probably damaging Het
Zcchc7 A G 4: 44,929,124 (GRCm39) T38A possibly damaging Het
Zfp236 A G 18: 82,664,130 (GRCm39) S552P 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
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
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
Predicted Primers PCR Primer
(F):5'- ACACCGCTTTGTCGCTTTACCAT -3'
(R):5'- ATTGGCATTGTCTAAAGCTGACACCT -3'

Sequencing Primer
(F):5'- CATGGCATGTAAATGGCAGG -3'
(R):5'- tcactgctctttcagaggac -3'
Posted On 2014-03-14