Incidental Mutation 'R6253:Aasdh'
ID 506321
Institutional Source Beutler Lab
Gene Symbol Aasdh
Ensembl Gene ENSMUSG00000055923
Gene Name aminoadipate-semialdehyde dehydrogenase
Synonyms A230062G08Rik
MMRRC Submission 044370-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.159) question?
Stock # R6253 (G1)
Quality Score 225.009
Status Not validated
Chromosome 5
Chromosomal Location 77021506-77053361 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 77034105 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Threonine at position 482 (I482T)
Ref Sequence ENSEMBL: ENSMUSP00000117639 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000069709] [ENSMUST00000120963] [ENSMUST00000123682] [ENSMUST00000126741] [ENSMUST00000146570] [ENSMUST00000149602]
AlphaFold Q80WC9
Predicted Effect possibly damaging
Transcript: ENSMUST00000069709
AA Change: I482T

PolyPhen 2 Score 0.679 (Sensitivity: 0.86; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000069279
Gene: ENSMUSG00000055923
AA Change: I482T

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: I482T

PolyPhen 2 Score 0.679 (Sensitivity: 0.86; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000113792
Gene: ENSMUSG00000055923
AA Change: I482T

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 possibly damaging
Transcript: ENSMUST00000146570
AA Change: I482T

PolyPhen 2 Score 0.811 (Sensitivity: 0.84; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000117639
Gene: ENSMUSG00000055923
AA Change: I482T

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: 99.9%
  • 3x: 99.7%
  • 10x: 98.6%
  • 20x: 96.1%
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
4921504E06Rik A G 2: 19,528,929 (GRCm39) Y151H possibly damaging Het
Abca3 G A 17: 24,616,526 (GRCm39) M989I probably benign Het
Acvr2b C T 9: 119,257,627 (GRCm39) P220L probably damaging Het
Aqr T C 2: 113,986,758 (GRCm39) D204G possibly damaging Het
Arpp19 G T 9: 74,964,016 (GRCm39) D123Y probably damaging Het
Bod1l A G 5: 41,983,881 (GRCm39) I554T probably damaging Het
Bpifa5 A G 2: 154,005,420 (GRCm39) M1V probably null Het
Cdh3 T A 8: 107,263,695 (GRCm39) probably null Het
Cep170 A T 1: 176,607,960 (GRCm39) D165E possibly damaging Het
Cfap46 CCTTCTTCT CCTTCT 7: 139,218,816 (GRCm39) probably benign Het
Cog3 A G 14: 75,957,152 (GRCm39) L627P probably damaging Het
Col23a1 C T 11: 51,464,995 (GRCm39) L453F probably damaging Het
Cyp2a22 T A 7: 26,633,657 (GRCm39) Q351L probably benign Het
Ddx4 T G 13: 112,772,557 (GRCm39) K77N probably benign Het
Ddx4 C A 13: 112,772,556 (GRCm39) E78* probably null Het
Decr1 A T 4: 15,931,179 (GRCm39) N92K probably benign Het
Dnm2 T C 9: 21,411,571 (GRCm39) L600P probably damaging Het
Ece2 A C 16: 20,457,932 (GRCm39) N356H probably damaging Het
Ern1 A T 11: 106,317,734 (GRCm39) I130N possibly damaging Het
Fat2 G A 11: 55,187,097 (GRCm39) R1250C probably damaging Het
Fat4 T A 3: 39,005,505 (GRCm39) V1968D probably damaging Het
Frmd6 A G 12: 70,923,987 (GRCm39) K82E probably damaging Het
Gm5431 A G 11: 48,785,826 (GRCm39) V183A probably benign Het
Golgb1 T C 16: 36,735,984 (GRCm39) S1744P possibly damaging Het
Hnrnpa3 C G 2: 75,492,914 (GRCm39) Q213E possibly damaging Het
Hspa1a A G 17: 35,189,526 (GRCm39) F459S probably damaging Het
Ice1 A G 13: 70,751,283 (GRCm39) L1601P probably damaging Het
Igkv19-93 T A 6: 68,713,323 (GRCm39) D102V probably damaging Het
Kansl1 G A 11: 104,248,352 (GRCm39) T534I probably benign Het
Lpin2 T A 17: 71,538,264 (GRCm39) S303R probably damaging Het
Lrpprc T A 17: 85,048,065 (GRCm39) I845F probably benign Het
Mdn1 A G 4: 32,749,593 (GRCm39) T4259A probably benign Het
Mtcl2 T C 2: 156,863,339 (GRCm39) S1197G probably benign Het
Mtss1 A G 15: 58,815,568 (GRCm39) I664T probably benign Het
Myh8 A G 11: 67,192,793 (GRCm39) E1528G probably benign Het
Myo5c A T 9: 75,152,319 (GRCm39) E69V probably damaging Het
Myom3 A T 4: 135,513,203 (GRCm39) D627V probably benign Het
Myom3 A G 4: 135,528,314 (GRCm39) N1053S probably benign Het
Or10a4 G A 7: 106,697,464 (GRCm39) R264H possibly damaging Het
Or2d2b A T 7: 106,705,145 (GRCm39) S308T probably benign Het
Or6z3 T C 7: 6,463,547 (GRCm39) V13A probably benign Het
Phactr1 T A 13: 43,248,247 (GRCm39) S399T probably benign Het
Plch2 T A 4: 155,091,558 (GRCm39) Y84F probably damaging Het
Ppp1r13b A G 12: 111,802,160 (GRCm39) S278P probably benign Het
Prol1 A G 5: 88,475,736 (GRCm39) Y42C probably damaging Het
Pum2 A G 12: 8,798,205 (GRCm39) E906G probably damaging Het
Pwwp3a T A 10: 80,068,848 (GRCm39) C331S probably benign Het
Rbp2 G T 9: 98,372,700 (GRCm39) S13I probably benign Het
Rbp4 G A 19: 38,113,428 (GRCm39) T30M probably benign Het
Selenbp1 T C 3: 94,851,157 (GRCm39) L351P possibly damaging Het
Serpinb6b T C 13: 33,156,255 (GRCm39) F115S probably damaging Het
Tigd3 A T 19: 5,942,870 (GRCm39) Y87N probably damaging Het
Tigd5 T A 15: 75,782,871 (GRCm39) L411H probably damaging Het
Ttc3 T C 16: 94,258,272 (GRCm39) probably null Het
Uhmk1 T C 1: 170,027,449 (GRCm39) Q416R probably damaging Het
Zfand4 T C 6: 116,250,575 (GRCm39) F2L probably damaging Het
Zfhx3 C T 8: 109,682,020 (GRCm39) T3153M possibly damaging Het
Zfp697 T G 3: 98,334,855 (GRCm39) C207G possibly damaging Het
Zfp935 T C 13: 62,602,685 (GRCm39) T172A probably benign Het
Znrf3 G T 11: 5,230,865 (GRCm39) L883I 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
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
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'- CCAGTATCACTCACAATAGTCCTTC -3'
(R):5'- TGGTAGACCCTTGTAACTTTATCAG -3'

Sequencing Primer
(F):5'- TTCTGCAGCCATTGACCAACG -3'
(R):5'- CAGTACTGAGTTTAGACAGCACATC -3'
Posted On 2018-03-15