Incidental Mutation 'R4857:Aasdh'
ID 374042
Institutional Source Beutler Lab
Gene Symbol Aasdh
Ensembl Gene ENSMUSG00000055923
Gene Name aminoadipate-semialdehyde dehydrogenase
Synonyms A230062G08Rik
MMRRC Submission 042468-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.159) question?
Stock # R4857 (G1)
Quality Score 225
Status Validated
Chromosome 5
Chromosomal Location 77021506-77053361 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 77035131 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Phenylalanine to Leucine at position 428 (F428L)
Ref Sequence ENSEMBL: ENSMUSP00000113792 (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: F428L

PolyPhen 2 Score 0.014 (Sensitivity: 0.96; Specificity: 0.79)
SMART Domains Protein: ENSMUSP00000069279
Gene: ENSMUSG00000055923
AA Change: F428L

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: F428L

PolyPhen 2 Score 0.014 (Sensitivity: 0.96; Specificity: 0.79)
SMART Domains Protein: ENSMUSP00000113792
Gene: ENSMUSG00000055923
AA Change: F428L

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: F428L

PolyPhen 2 Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)
SMART Domains Protein: ENSMUSP00000117639
Gene: ENSMUSG00000055923
AA Change: F428L

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
Meta Mutation Damage Score 0.0709 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.3%
  • 10x: 96.3%
  • 20x: 92.3%
Validation Efficiency 97% (115/119)
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: 101 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930548G14Rik C T 15: 46,488,927 (GRCm39) noncoding transcript Het
Abca13 A G 11: 9,244,143 (GRCm39) N2002S probably benign Het
Acot7 T G 4: 152,322,211 (GRCm39) F248V possibly damaging Het
Acsf2 A G 11: 94,460,164 (GRCm39) I396T probably benign Het
Agbl1 A G 7: 76,069,583 (GRCm39) N372D probably benign Het
Ahctf1 A T 1: 179,626,922 (GRCm39) probably benign Het
Akap11 T C 14: 78,736,300 (GRCm39) D1830G Het
Bcl7b A G 5: 135,202,033 (GRCm39) *59W probably null Het
Bdh1 A G 16: 31,266,366 (GRCm39) probably null Het
Bin3 A G 14: 70,366,344 (GRCm39) N69S probably benign Het
Bltp3b A T 10: 89,615,825 (GRCm39) N156I probably damaging Het
Bsdc1 T C 4: 129,365,685 (GRCm39) probably benign Het
Cacna1i T C 15: 80,253,863 (GRCm39) V700A probably damaging Het
Calcr T C 6: 3,708,511 (GRCm39) N225S probably benign Het
Cby2 C T 14: 75,830,478 (GRCm39) E8K probably damaging Het
Cdh23 A G 10: 60,227,563 (GRCm39) S1173P probably damaging Het
Cftr C T 6: 18,320,974 (GRCm39) T1428M possibly damaging Het
Chd1l T C 3: 97,479,975 (GRCm39) K591E probably benign Het
Chrd C T 16: 20,557,508 (GRCm39) P709L possibly damaging Het
Ckap4 T C 10: 84,369,352 (GRCm39) R127G possibly damaging Het
Cnbd2 T C 2: 156,209,485 (GRCm39) F476S probably benign Het
Dclk3 T C 9: 111,297,716 (GRCm39) V420A probably benign Het
Dnah5 A G 15: 28,345,953 (GRCm39) D2431G probably benign Het
Duox1 T A 2: 122,146,212 (GRCm39) I10N probably benign Het
Ece2 T A 16: 20,436,556 (GRCm39) V126D probably damaging Het
Elfn1 T C 5: 139,958,840 (GRCm39) Y615H probably damaging Het
Epha1 T C 6: 42,338,416 (GRCm39) D720G probably benign Het
Fras1 A G 5: 96,926,018 (GRCm39) I3741V probably benign Het
Gm53 A T 11: 96,142,562 (GRCm39) noncoding transcript Het
Grb10 G T 11: 11,901,469 (GRCm39) probably benign Het
Grid2ip A G 5: 143,368,384 (GRCm39) H568R probably damaging Het
Gsap A T 5: 21,492,797 (GRCm39) probably null Het
Gse1 T C 8: 121,299,496 (GRCm39) probably benign Het
Gstm1 T C 3: 107,923,724 (GRCm39) R94G possibly damaging Het
Gtf2ird1 A G 5: 134,391,398 (GRCm39) F866L probably damaging Het
Haao T A 17: 84,146,009 (GRCm39) probably null Het
Hcn4 A T 9: 58,766,853 (GRCm39) I805F unknown Het
Hemk1 A T 9: 107,206,647 (GRCm39) probably benign Het
Il12rb1 A T 8: 71,263,232 (GRCm39) Y33F possibly damaging Het
Il19 T A 1: 130,863,683 (GRCm39) I103F probably damaging Het
Itpr1 A G 6: 108,387,828 (GRCm39) N1522S probably benign Het
Klhdc8a A G 1: 132,230,843 (GRCm39) Y236C probably damaging Het
Klhl3 C T 13: 58,166,620 (GRCm39) G404S probably damaging Het
Large2 T C 2: 92,196,979 (GRCm39) probably benign Het
Lgi1 C A 19: 38,294,698 (GRCm39) A490E probably damaging Het
Lmbr1 A G 5: 29,528,807 (GRCm39) L112P probably damaging Het
Lmo7 T A 14: 102,124,784 (GRCm39) probably null Het
Lpin1 A C 12: 16,613,631 (GRCm39) I479S possibly damaging Het
Lrrc40 T A 3: 157,771,866 (GRCm39) probably benign Het
Lrrc9 A G 12: 72,546,466 (GRCm39) N1218S possibly damaging Het
Map3k9 A G 12: 81,771,401 (GRCm39) V729A probably benign Het
Marf1 A T 16: 13,946,475 (GRCm39) Y1215* probably null Het
Moap1 T A 12: 102,708,824 (GRCm39) I242L probably benign Het
Mpo A G 11: 87,687,107 (GRCm39) K218E probably benign Het
Mpz C T 1: 170,986,379 (GRCm39) R98C probably damaging Het
Neb T G 2: 52,091,992 (GRCm39) K5024T probably damaging Het
Nlrp4b C T 7: 10,449,225 (GRCm39) T109I probably benign Het
Noc3l T A 19: 38,781,244 (GRCm39) probably null Het
Nosip G A 7: 44,726,102 (GRCm39) V220I probably benign Het
Nyap1 A C 5: 137,733,840 (GRCm39) S398A probably damaging Het
Or12d17 A G 17: 37,777,714 (GRCm39) M206V possibly damaging Het
Or4a68 T G 2: 89,269,967 (GRCm39) I219L probably damaging Het
Or4f54 A G 2: 111,123,488 (GRCm39) N292D possibly damaging Het
Osbpl7 T C 11: 96,947,495 (GRCm39) probably benign Het
Pard3 A T 8: 128,050,535 (GRCm39) Y199F probably damaging Het
Pcdha11 G A 18: 37,144,505 (GRCm39) V199I probably benign Het
Pcdhga8 A T 18: 37,859,967 (GRCm39) N341I probably damaging Het
Pcsk4 A G 10: 80,160,873 (GRCm39) S318P probably damaging Het
Phldb1 C A 9: 44,607,389 (GRCm39) R1272L probably damaging Het
Phlpp2 A G 8: 110,603,642 (GRCm39) T103A probably damaging Het
Pibf1 T A 14: 99,423,937 (GRCm39) Y503* probably null Het
Pkn1 A T 8: 84,410,856 (GRCm39) probably null Het
Pramel22 A T 4: 143,383,158 (GRCm39) N20K possibly damaging Het
Ptprf A G 4: 118,074,394 (GRCm39) probably benign Het
Rbm19 C A 5: 120,270,898 (GRCm39) probably benign Het
Rcan1 T C 16: 92,262,794 (GRCm39) D5G possibly damaging Het
Recql5 A T 11: 115,819,038 (GRCm39) L176Q probably damaging Het
Rev3l T A 10: 39,714,455 (GRCm39) L2393Q probably damaging Het
Rp1 C A 1: 4,422,539 (GRCm39) K180N probably damaging Het
Rp1 T A 1: 4,422,540 (GRCm39) K180M probably damaging Het
Sdk1 T C 5: 142,147,531 (GRCm39) V1461A probably benign Het
Sdk2 A T 11: 113,712,208 (GRCm39) L1653* probably null Het
Shroom3 G T 5: 93,090,945 (GRCm39) V1151F probably damaging Het
Skint10 A T 4: 112,603,830 (GRCm39) V119D possibly damaging Het
Sncaip T C 18: 53,002,297 (GRCm39) S273P probably benign Het
Sp1 T G 15: 102,339,409 (GRCm39) I449S probably damaging Het
Spata31h1 T C 10: 82,119,682 (GRCm39) T4443A possibly damaging Het
Spats2 T C 15: 99,072,301 (GRCm39) L78P probably damaging Het
Stambp T A 6: 83,533,348 (GRCm39) N305I probably benign Het
Stim2 A T 5: 54,275,888 (GRCm39) S688C probably damaging Het
Sytl3 A G 17: 7,003,980 (GRCm39) N355S probably damaging Het
Taf4b C T 18: 14,937,635 (GRCm39) A236V probably null Het
Tnfaip6 A G 2: 51,941,086 (GRCm39) probably null Het
Trpc2 T A 7: 101,733,176 (GRCm39) S416T probably benign Het
Ttn T C 2: 76,569,210 (GRCm39) T27228A probably damaging Het
Ush2a T A 1: 188,269,917 (GRCm39) D1721E probably benign Het
Usp47 T A 7: 111,681,759 (GRCm39) H523Q probably damaging Het
Vmn1r8 A T 6: 57,013,338 (GRCm39) I130F probably benign Het
Vps13b A G 15: 35,456,800 (GRCm39) S749G probably benign Het
Xrcc5 C A 1: 72,365,424 (GRCm39) T283K possibly damaging Het
Ydjc A G 16: 16,966,002 (GRCm39) probably benign 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
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
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'- CTGCCTCTACTGACTTACATACAG -3'
(R):5'- CTGCGCCTAATTTTATCAGGTAG -3'

Sequencing Primer
(F):5'- GCTCTACCTGTTGCACAA -3'
(R):5'- CTGGAACTCACTTTGTAGACCAGG -3'
Posted On 2016-03-01