Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL02947:Aasdh'

364805

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: 0.158) question?

Stock #

IGL02947

Quality Score

Status

Chromosome

Chromosomal Location

76873659-76905514 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 76902110 bp

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 13 (V13A)

Ref Sequence

ENSEMBL: ENSMUSP00000121050 (fasta)

Gene Model

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

Predicted Effect

probably benign
Transcript: ENSMUST00000069709
AA Change: V13A

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000069279
Gene: ENSMUSG00000055923
AA Change: V13A

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: V13A

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000113792
Gene: ENSMUSG00000055923
AA Change: V13A

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: V13A

PolyPhen 2 Score 0.009 (Sensitivity: 0.96; Specificity: 0.77)

SMART Domains

Protein: ENSMUSP00000121050
Gene: ENSMUSG00000055923
AA Change: V13A

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

Predicted Effect

probably benign
Transcript: ENSMUST00000126741
AA Change: V13A

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

SMART Domains

Protein: ENSMUSP00000118854
Gene: ENSMUSG00000055923
AA Change: V13A

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: V13A

PolyPhen 2 Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000136080

Predicted Effect

unknown
Transcript: ENSMUST00000142450
AA Change: V13A

Predicted Effect

probably benign
Transcript: ENSMUST00000146570
AA Change: V13A

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000117639
Gene: ENSMUSG00000055923
AA Change: V13A

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: 49 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700001L19Rik	T	A	13: 68,611,193	F95L	probably benign	Het
Atp8b5	T	A	4: 43,305,774	I106K	possibly damaging	Het
Cdh15	T	C	8: 122,865,372	S633P	probably benign	Het
Celsr3	A	G	9: 108,845,935	T228A	probably benign	Het
Chrng	A	G	1: 87,209,884		probably null	Het
Coprs	T	C	8: 13,885,782	E79G	probably damaging	Het
Cpb2	A	C	14: 75,283,318	Y391S	probably damaging	Het
Cyp2j8	A	T	4: 96,470,578	I368N	probably damaging	Het
Ddah1	T	C	3: 145,759,087	F76L	probably benign	Het
Eif2ak4	A	G	2: 118,431,033	T573A	probably benign	Het
Exoc6b	T	A	6: 84,858,429	M375L	probably benign	Het
Fasn	T	C	11: 120,815,676	E994G	probably damaging	Het
Fem1a	T	A	17: 56,258,640	C578S	probably benign	Het
Garnl3	A	G	2: 33,046,594	S188P	probably damaging	Het
Gpn3	T	C	5: 122,378,488	V60A	possibly damaging	Het
Hnrnpr	A	G	4: 136,316,379	D59G	probably damaging	Het
Hydin	A	T	8: 110,418,462	E815V	probably damaging	Het
Itga9	C	T	9: 118,658,533	T228M	probably damaging	Het
Kpna7	T	C	5: 144,994,074	I320M	probably damaging	Het
Lnpep	T	C	17: 17,570,972	T437A	probably damaging	Het
Ltf	C	T	9: 111,038,947	T48I	probably benign	Het
Masp1	T	G	16: 23,494,726	D153A	probably damaging	Het
Mcpt9	T	A	14: 56,026,916	R241*	probably null	Het
Msantd4	T	A	9: 4,384,787	S171T	probably damaging	Het
Nos1	G	A	5: 117,943,317	V1229M	probably damaging	Het
Npc1l1	A	G	11: 6,229,246	S55P	probably benign	Het
Oc90	T	C	15: 65,888,134	K212R	probably benign	Het
Olfr1095	C	T	2: 86,850,786	R304K	probably benign	Het
Olfr446	A	G	6: 42,927,896	I222V	probably benign	Het
Olfr771	C	A	10: 129,160,570	C138F	probably damaging	Het
Prr12	T	A	7: 45,048,556	Q645L	unknown	Het
Psmd9	A	G	5: 123,246,215	I145V	probably benign	Het
Rbks	T	C	5: 31,660,063	I121V	probably benign	Het
Rnase2b	A	T	14: 51,162,807	Y115F	probably damaging	Het
Sarnp	A	G	10: 128,839,854	E78G	probably benign	Het
Sltm	A	G	9: 70,591,664	S1007G	probably benign	Het
Spata31d1c	T	A	13: 65,034,945	Y100*	probably null	Het
Srrm2	T	C	17: 23,810,746	S222P	probably benign	Het
Sult3a1	G	A	10: 33,864,050	R35Q	possibly damaging	Het
Tfap4	T	C	16: 4,551,360	D132G	probably damaging	Het
Tmem53	C	T	4: 117,268,088	Q111*	probably null	Het
Togaram1	T	A	12: 65,021,500	V1709D	probably damaging	Het
Trpm3	A	T	19: 22,901,119	D628V	probably damaging	Het
Ttn	T	A	2: 76,714,494	K31009*	probably null	Het
Vldlr	A	G	19: 27,239,720	I58V	probably benign	Het
Vmn1r4	T	C	6: 56,957,246	F245S	probably benign	Het
Vrtn	T	A	12: 84,648,484	S3T	probably damaging	Het
Vwa7	A	G	17: 35,023,500		probably null	Het
Wrnip1	T	A	13: 32,822,070	Y632N	probably damaging	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
IGL02544:Aasdh	APN	5	76902114	missense	probably benign	0.27
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
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
Z1088:Aasdh	UTSW	5	76901157	splice site	probably null
Z1176:Aasdh	UTSW	5	76891796	critical splice acceptor site	probably null

Posted On

2015-12-18