Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL03398:Aasdh'

421324

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Aasdh

Ensembl Gene

ENSMUSG00000055923

Gene Name

aminoadipate-semialdehyde dehydrogenase

Synonyms

A230062G08Rik

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.158) question?

Stock #

IGL03398

Quality Score

Status

Chromosome

Chromosomal Location

77021506-77053361 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 77039566 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Leucine at position 248 (I248L)

Ref Sequence

ENSEMBL: ENSMUSP00000118854 (fasta)

Gene Model

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

AlphaFold

Q80WC9

Predicted Effect

probably benign
Transcript: ENSMUST00000069709
AA Change: I248L

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)

SMART Domains

Protein: ENSMUSP00000069279
Gene: ENSMUSG00000055923
AA Change: I248L

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: I248L

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)

SMART Domains

Protein: ENSMUSP00000113792
Gene: ENSMUSG00000055923
AA Change: I248L

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

SMART Domains

Protein: ENSMUSP00000121050
Gene: ENSMUSG00000055923

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

Predicted Effect

probably benign
Transcript: ENSMUST00000126741
AA Change: I248L

PolyPhen 2 Score 0.020 (Sensitivity: 0.95; Specificity: 0.80)

SMART Domains

Protein: ENSMUSP00000118854
Gene: ENSMUSG00000055923
AA Change: I248L

Domain	Start	End	E-Value	Type
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: I248L

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

SMART Domains

Protein: ENSMUSP00000117639
Gene: ENSMUSG00000055923
AA Change: I248L

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: ENSMUST00000201283

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: 25 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ackr2	C	T	9: 121,737,654 (GRCm39)	L10F	probably damaging	Het
Ankhd1	A	G	18: 36,789,890 (GRCm39)		probably benign	Het
Arhgap5	A	G	12: 52,564,094 (GRCm39)	E355G	probably damaging	Het
Arhgef12	A	G	9: 42,889,522 (GRCm39)	V1031A	probably damaging	Het
Ash1l	T	A	3: 88,914,527 (GRCm39)	V1719E	probably benign	Het
Chd5	A	G	4: 152,461,539 (GRCm39)	N1284D	probably damaging	Het
Dennd4a	A	G	9: 64,779,164 (GRCm39)	D549G	probably benign	Het
Dhx32	A	G	7: 133,361,254 (GRCm39)	Y60H	probably damaging	Het
Elapor1	A	T	3: 108,368,537 (GRCm39)	V818D	possibly damaging	Het
Fcamr	A	G	1: 130,730,985 (GRCm39)	I79M	probably damaging	Het
Filip1	A	G	9: 79,726,225 (GRCm39)	V798A	probably benign	Het
Ifi208	A	C	1: 173,510,817 (GRCm39)	N324T	probably damaging	Het
Nelfcd	G	A	2: 174,268,625 (GRCm39)	A559T	possibly damaging	Het
Nsl1	T	C	1: 190,814,361 (GRCm39)		probably benign	Het
Parp6	T	C	9: 59,548,336 (GRCm39)	I483T	probably damaging	Het
Ppp2r5e	A	C	12: 75,509,179 (GRCm39)	W367G	possibly damaging	Het
Pramel31	A	G	4: 144,090,061 (GRCm39)	D367G	probably damaging	Het
Serpini2	G	A	3: 75,166,852 (GRCm39)	T135I	probably benign	Het
Sgsm1	T	A	5: 113,403,182 (GRCm39)	N955I	possibly damaging	Het
Tenm2	A	G	11: 35,915,370 (GRCm39)	Y2055H	probably damaging	Het
Tex2	T	C	11: 106,459,098 (GRCm39)	N111D	probably damaging	Het
Ttc5	T	C	14: 51,018,964 (GRCm39)	E51G	possibly damaging	Het
Usp47	A	T	7: 111,673,710 (GRCm39)	E334V	probably damaging	Het
Wdfy4	T	C	14: 32,769,247 (GRCm39)	K2227E	probably benign	Het
Xkr4	T	C	1: 3,286,798 (GRCm39)	E464G	probably damaging	Het

Other mutations in Aasdh

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH 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
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
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

Posted On

2016-08-02