Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02544:Aasdh'

297763

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Aasdh

Ensembl Gene

ENSMUSG00000055923

Gene Name

aminoadipate-semialdehyde dehydrogenase

Synonyms

A230062G08Rik

Accession Numbers

Genbank: NM_173765.3; Ensembl: ENSMUST00000120963

Is this an essential gene?

Probably non essential (E-score: 0.226) question?

Stock #

IGL02544

Quality Score

Status

Chromosome

Chromosomal Location

76873659-76905514 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to C at 76902114 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Serine to Alanine at position 12 (S12A)

Ref Sequence

ENSEMBL: ENSMUSP00000120586 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000069709] [ENSMUST00000120963] [ENSMUST00000123682] [ENSMUST00000126741] [ENSMUST00000135954] [ENSMUST00000142450] [ENSMUST00000146570]

AlphaFold

Q80WC9

Predicted Effect

probably benign
Transcript: ENSMUST00000069709
AA Change: S12A

PolyPhen 2 Score 0.069 (Sensitivity: 0.94; Specificity: 0.84)

SMART Domains

Protein: ENSMUSP00000069279
Gene: ENSMUSG00000055923
AA Change: S12A

Domain	Start	End	E-Value	Type
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: S12A

PolyPhen 2 Score 0.069 (Sensitivity: 0.94; Specificity: 0.84)

SMART Domains

Protein: ENSMUSP00000113792
Gene: ENSMUSG00000055923
AA Change: S12A

Domain	Start	End	E-Value	Type
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: ENSMUST00000123682
AA Change: S12A

PolyPhen 2 Score 0.121 (Sensitivity: 0.93; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000121050
Gene: ENSMUSG00000055923
AA Change: S12A

Domain	Start	End	E-Value	Type
Pfam:AMP-binding	7	231	1.7e-23	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000126741
AA Change: S12A

PolyPhen 2 Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)

SMART Domains

Protein: ENSMUSP00000118854
Gene: ENSMUSG00000055923
AA Change: S12A

Domain	Start	End	E-Value	Type
Pfam:AMP-binding	7	403	7.5e-51	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000134805

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000135697

Predicted Effect

probably benign
Transcript: ENSMUST00000135954
AA Change: S12A

PolyPhen 2 Score 0.271 (Sensitivity: 0.91; Specificity: 0.88)

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000136080

Predicted Effect

unknown
Transcript: ENSMUST00000142450
AA Change: S12A

Predicted Effect

probably benign
Transcript: ENSMUST00000146570
AA Change: S12A

PolyPhen 2 Score 0.013 (Sensitivity: 0.96; Specificity: 0.78)

SMART Domains

Protein: ENSMUSP00000117639
Gene: ENSMUSG00000055923
AA Change: S12A

Domain	Start	End	E-Value	Type
Pfam:AMP-binding	7	449	2.1e-58	PFAM
Pfam:PP-binding	556	628	1e-7	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000154548

Coding Region Coverage

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: 45 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4931428F04Rik	C	T	8: 105,283,460	V286M	probably benign	Het
Abcb5	A	T	12: 118,906,268		probably benign	Het
Acap3	G	A	4: 155,892,410	E6K	possibly damaging	Het
Ano3	A	T	2: 110,658,249	I946K	possibly damaging	Het
Arid1a	A	G	4: 133,681,748	V1816A	unknown	Het
Cacna1c	C	T	6: 118,751,479	G335R	probably damaging	Het
Ccnh	C	A	13: 85,202,341	Y118*	probably null	Het
Cep76	C	T	18: 67,634,950		probably benign	Het
Cyp2c65	T	C	19: 39,090,638	V387A	probably damaging	Het
Dapk1	T	G	13: 60,751,217	S834A	probably benign	Het
Ddx39	T	C	8: 83,722,773	S367P	probably benign	Het
Dicer1	A	G	12: 104,714,832	I474T	probably damaging	Het
Dnah10	G	A	5: 124,799,005	R2579H	probably benign	Het
Dnajc16	T	C	4: 141,764,647	N622D	probably damaging	Het
Eif3c	G	T	7: 126,547,612	S799*	probably null	Het
Fbxo9	A	G	9: 78,087,259	Y259H	probably damaging	Het
Fpr-rs4	A	T	17: 18,022,211	H160L	probably benign	Het
Galc	A	T	12: 98,231,442	V336D	probably benign	Het
Gm14548	T	A	7: 3,897,186	Y139F	probably damaging	Het
Mfrp	T	C	9: 44,102,794	L153P	probably damaging	Het
Mtx1	C	A	3: 89,210,396	W30L	probably damaging	Het
Mysm1	A	T	4: 94,952,306	D624E	probably damaging	Het
Naa16	A	G	14: 79,335,820	F837L	probably damaging	Het
Olfr1118	C	T	2: 87,309,127	R113C	possibly damaging	Het
Olfr193	A	T	16: 59,110,144	H155Q	probably damaging	Het
Olfr346	A	G	2: 36,688,836	Y278C	probably damaging	Het
Olfr705	T	C	7: 106,714,535	I49V	probably benign	Het
Pde4d	G	T	13: 109,740,523	D137Y	probably damaging	Het
Pik3r1	G	T	13: 101,687,276	R534S	probably damaging	Het
Plekha5	A	C	6: 140,589,728	E239A	possibly damaging	Het
Psap	G	T	10: 60,300,626		probably benign	Het
Rap2b	T	C	3: 61,365,139	F28S	probably damaging	Het
Rfc5	A	T	5: 117,386,866		probably benign	Het
Ryr1	C	T	7: 29,115,599	D175N	probably benign	Het
Sbno1	T	G	5: 124,403,983	I370L	probably damaging	Het
Slc17a6	T	A	7: 51,666,155	C390*	probably null	Het
Srsf7	A	T	17: 80,204,191		probably benign	Het
Tbc1d10c	C	T	19: 4,187,960	D272N	probably benign	Het
Tll2	A	G	19: 41,135,965	F204L	probably damaging	Het
Tmc1	T	A	19: 20,906,963	T38S	probably benign	Het
Tmem184b	A	T	15: 79,365,807	I256K	probably damaging	Het
Tmem214	G	A	5: 30,872,746	A296T	probably benign	Het
Trip11	G	A	12: 101,893,521	R365W	probably damaging	Het
Ubr4	C	T	4: 139,415,118	P1339S	probably damaging	Het
Vmn2r83	T	A	10: 79,481,459		probably benign	Het

Other mutations in Aasdh

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00823:Aasdh	APN	5	76878534	unclassified	probably benign
IGL01013:Aasdh	APN	5	76886206	missense	possibly damaging	0.68
IGL01558:Aasdh	APN	5	76888617	missense	possibly damaging	0.89
IGL02614:Aasdh	APN	5	76896368	splice site	probably benign
IGL02678:Aasdh	APN	5	76888020	splice site	probably benign
IGL02739:Aasdh	APN	5	76878517	missense	possibly damaging	0.64
IGL02947:Aasdh	APN	5	76902110	missense	probably benign	0.01
IGL03116:Aasdh	APN	5	76902089	splice site	probably null
IGL03398:Aasdh	APN	5	76891719	missense	probably benign	0.02
1mM(1):Aasdh	UTSW	5	76896617	missense	possibly damaging	0.91
R0183:Aasdh	UTSW	5	76886235	missense	probably benign	0.05
R0226:Aasdh	UTSW	5	76902002	missense	probably damaging	1.00
R0367:Aasdh	UTSW	5	76902114	missense	probably damaging	0.99
R0386:Aasdh	UTSW	5	76896461	missense	probably damaging	0.98
R0529:Aasdh	UTSW	5	76876267	nonsense	probably null
R0881:Aasdh	UTSW	5	76876283	missense	probably damaging	1.00
R0882:Aasdh	UTSW	5	76876283	missense	probably damaging	1.00
R1033:Aasdh	UTSW	5	76876283	missense	probably damaging	1.00
R1034:Aasdh	UTSW	5	76876283	missense	probably damaging	1.00
R1035:Aasdh	UTSW	5	76876283	missense	probably damaging	1.00
R1036:Aasdh	UTSW	5	76876283	missense	probably damaging	1.00
R1366:Aasdh	UTSW	5	76888804	missense	probably benign	0.10
R1446:Aasdh	UTSW	5	76886289	missense	probably benign	0.45
R1449:Aasdh	UTSW	5	76886289	missense	probably benign	0.45
R1469:Aasdh	UTSW	5	76891679	missense	probably damaging	0.97
R1469:Aasdh	UTSW	5	76891679	missense	probably damaging	0.97
R1583:Aasdh	UTSW	5	76882681	missense	probably benign	0.00
R1641:Aasdh	UTSW	5	76891779	missense	probably benign	0.36
R1876:Aasdh	UTSW	5	76877549	missense	probably damaging	1.00
R1895:Aasdh	UTSW	5	76891704	missense	probably damaging	1.00
R1946:Aasdh	UTSW	5	76891704	missense	probably damaging	1.00
R3615:Aasdh	UTSW	5	76888782	missense	probably benign	0.20
R3616:Aasdh	UTSW	5	76888782	missense	probably benign	0.20
R3746:Aasdh	UTSW	5	76888654	nonsense	probably null
R3747:Aasdh	UTSW	5	76888654	nonsense	probably null
R3748:Aasdh	UTSW	5	76888654	nonsense	probably null
R3750:Aasdh	UTSW	5	76888654	nonsense	probably null
R3836:Aasdh	UTSW	5	76878468	missense	probably benign	0.32
R4857:Aasdh	UTSW	5	76887284	missense	probably benign	0.01
R4928:Aasdh	UTSW	5	76896688	missense	possibly damaging	0.65
R4937:Aasdh	UTSW	5	76888654	nonsense	probably null
R5762:Aasdh	UTSW	5	76896598	missense	probably benign	0.00
R5866:Aasdh	UTSW	5	76876211	missense	probably damaging	1.00
R5940:Aasdh	UTSW	5	76882898	missense	probably benign	0.07
R6253:Aasdh	UTSW	5	76886258	missense	possibly damaging	0.81
R6542:Aasdh	UTSW	5	76883055	missense	probably damaging	1.00
R6825:Aasdh	UTSW	5	76888849	splice site	probably null
R6868:Aasdh	UTSW	5	76891680	missense	probably damaging	0.99
R6876:Aasdh	UTSW	5	76896441	missense	probably damaging	1.00
R6961:Aasdh	UTSW	5	76876301	missense	probably damaging	1.00
R6963:Aasdh	UTSW	5	76896456	missense	probably damaging	0.99
R7069:Aasdh	UTSW	5	76876356	missense	probably benign	0.03
R7220:Aasdh	UTSW	5	76901925	missense	probably benign	0.13
R7545:Aasdh	UTSW	5	76880014	missense	probably damaging	1.00
R7673:Aasdh	UTSW	5	76882708	missense	probably benign	0.03
R7703:Aasdh	UTSW	5	76888077	missense	probably damaging	0.99
R7890:Aasdh	UTSW	5	76884122	missense	probably benign	0.19
R7978:Aasdh	UTSW	5	76888668	missense	probably damaging	0.99
R8046:Aasdh	UTSW	5	76896478	missense	probably benign
R8152:Aasdh	UTSW	5	76896458	missense	probably damaging	1.00
R8425:Aasdh	UTSW	5	76886277	missense	possibly damaging	0.49
R8884:Aasdh	UTSW	5	76891794	missense	possibly damaging	0.94
R9028:Aasdh	UTSW	5	76876130	missense	probably damaging	1.00
R9361:Aasdh	UTSW	5	76882378	missense	probably benign	0.01
R9519:Aasdh	UTSW	5	76882725	missense	probably benign	0.00
Z1088:Aasdh	UTSW	5	76901157	splice site	probably null
Z1176:Aasdh	UTSW	5	76891796	critical splice acceptor site	probably null

Posted On

2015-04-16