Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01558:Aasdh'

90766

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: 0.159) question?

Stock #

IGL01558

Quality Score

Status

Chromosome

Chromosomal Location

77021506-77053361 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 77036464 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Glycine at position 359 (E359G)

Ref Sequence

ENSEMBL: ENSMUSP00000117639 (fasta)

Gene Model

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

AlphaFold

Q80WC9

Predicted Effect

possibly damaging
Transcript: ENSMUST00000069709
AA Change: E359G

PolyPhen 2 Score 0.773 (Sensitivity: 0.85; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000069279
Gene: ENSMUSG00000055923
AA Change: E359G

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

possibly damaging
Transcript: ENSMUST00000120963
AA Change: E359G

PolyPhen 2 Score 0.773 (Sensitivity: 0.85; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000113792
Gene: ENSMUSG00000055923
AA Change: E359G

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

noncoding transcript
Transcript: ENSMUST00000123059

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: E359G

PolyPhen 2 Score 0.141 (Sensitivity: 0.92; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000118854
Gene: ENSMUSG00000055923
AA Change: E359G

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000135697

Predicted Effect

possibly damaging
Transcript: ENSMUST00000146570
AA Change: E359G

PolyPhen 2 Score 0.895 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000117639
Gene: ENSMUSG00000055923
AA Change: E359G

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

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: 21 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Agtr1b	T	C	3: 20,370,424 (GRCm39)	T61A	probably damaging	Het
Casd1	T	A	6: 4,624,143 (GRCm39)	I312N	possibly damaging	Het
Cebpz	A	T	17: 79,242,734 (GRCm39)	F307I	probably damaging	Het
Dhx33	T	C	11: 70,890,579 (GRCm39)	R207G	probably benign	Het
G0s2	T	C	1: 192,955,003 (GRCm39)	Y27C	probably damaging	Het
Glg1	A	T	8: 111,914,362 (GRCm39)	M474K	probably benign	Het
Macf1	T	C	4: 123,346,798 (GRCm39)	N2490S	probably benign	Het
Mpdz	C	A	4: 81,213,767 (GRCm39)	E1565*	probably null	Het
Mthfsl	A	G	9: 88,570,870 (GRCm39)	I126T	possibly damaging	Het
Nectin4	A	G	1: 171,212,257 (GRCm39)	D285G	probably benign	Het
Neurod1	T	C	2: 79,284,363 (GRCm39)	H340R	possibly damaging	Het
Nop53	G	A	7: 15,679,751 (GRCm39)		probably benign	Het
Siglec1	A	G	2: 130,920,419 (GRCm39)	L795P	probably damaging	Het
Sntg1	A	T	1: 8,533,612 (GRCm39)		probably benign	Het
Stk33	T	C	7: 108,940,491 (GRCm39)		probably benign	Het
Stox1	C	T	10: 62,503,651 (GRCm39)	V135M	probably damaging	Het
Sult2a8	C	A	7: 14,159,377 (GRCm39)	E81*	probably null	Het
Tdrd6	A	G	17: 43,936,659 (GRCm39)	V1463A	probably damaging	Het
Tdrd6	C	T	17: 43,935,657 (GRCm39)	G1797D	probably benign	Het
Trmt2b	C	A	X: 133,139,305 (GRCm39)	R389I	possibly damaging	Het
Ttc28	G	T	5: 111,431,828 (GRCm39)	V1903L	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
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
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

2013-12-09