Mutagenetix > Incidental Mutations

Incidental Mutation 'R0367:Aasdh'

30268

Institutional Source

Beutler Lab

Gene Symbol

Aasdh

Ensembl Gene

ENSMUSG00000055923

Gene Name

aminoadipate-semialdehyde dehydrogenase

Synonyms

A230062G08Rik

MMRRC Submission

038573-MU

Accession Numbers

Genbank: NM_173765.3; Ensembl: ENSMUST00000120963

Is this an essential gene?

Probably non essential (E-score: 0.127) question?

Stock #

R0367 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

76873659-76905514 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 76902114 bp

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 12 (S12P)

Ref Sequence

ENSEMBL: ENSMUSP00000121050 (fasta)

Gene Model

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

AlphaFold

Q80WC9

Predicted Effect

probably damaging
Transcript: ENSMUST00000069709
AA Change: S12P

PolyPhen 2 Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000069279
Gene: ENSMUSG00000055923
AA Change: S12P

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 damaging
Transcript: ENSMUST00000120963
AA Change: S12P

PolyPhen 2 Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000113792
Gene: ENSMUSG00000055923
AA Change: S12P

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 damaging
Transcript: ENSMUST00000123682
AA Change: S12P

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000121050
Gene: ENSMUSG00000055923
AA Change: S12P

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000126741
AA Change: S12P

PolyPhen 2 Score 0.984 (Sensitivity: 0.74; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000118854
Gene: ENSMUSG00000055923
AA Change: S12P

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

possibly damaging
Transcript: ENSMUST00000135954
AA Change: S12P

PolyPhen 2 Score 0.827 (Sensitivity: 0.84; Specificity: 0.93)

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000136080

Predicted Effect

unknown
Transcript: ENSMUST00000142450
AA Change: S12P

Predicted Effect

probably damaging
Transcript: ENSMUST00000146570
AA Change: S12P

PolyPhen 2 Score 0.986 (Sensitivity: 0.74; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000117639
Gene: ENSMUSG00000055923
AA Change: S12P

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

Meta Mutation Damage Score

0.2517

Coding Region Coverage

1x: 99.1%
3x: 98.2%
10x: 96.0%
20x: 91.8%

Validation Efficiency

100% (60/60)

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: 58 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Alx4	T	A	2: 93,668,608	D228E	probably damaging	Het
Antxr2	T	C	5: 98,029,596	E71G	probably benign	Het
Arhgap19	C	A	19: 41,801,978	G17V	probably benign	Het
BC027072	G	T	17: 71,750,476	F735L	probably damaging	Het
C130026I21Rik	G	T	1: 85,270,103		probably benign	Het
C8a	A	C	4: 104,862,594		probably null	Het
Ccne2	T	A	4: 11,201,426		probably benign	Het
Cdc42bpg	G	A	19: 6,311,395	C317Y	probably damaging	Het
Cend1	C	A	7: 141,427,895	R4L	probably damaging	Het
Cfap44	T	C	16: 44,433,476		probably null	Het
Cpt1c	T	C	7: 44,959,575	N774S	probably benign	Het
Csmd1	C	T	8: 15,917,270	D3198N	probably damaging	Het
Dapk2	C	T	9: 66,268,886	S323F	probably damaging	Het
Ddx60	T	G	8: 62,017,749	I1425R	possibly damaging	Het
Dusp27	T	A	1: 166,100,763	T427S	probably benign	Het
Edem1	T	A	6: 108,846,752	Y370N	probably damaging	Het
Elp5	A	G	11: 69,975,141	V103A	probably benign	Het
Fads1	C	T	19: 10,183,065	P5L	probably benign	Het
Fat1	A	G	8: 45,024,313	D2132G	probably damaging	Het
Fat2	A	T	11: 55,292,093		probably benign	Het
G3bp1	T	C	11: 55,498,626	F383L	probably damaging	Het
Gp2	C	T	7: 119,454,568	D57N	probably damaging	Het
Gpr161	T	C	1: 165,317,236		probably benign	Het
Gstcd	G	A	3: 132,986,377		probably benign	Het
Hipk3	A	T	2: 104,431,249	C980*	probably null	Het
Htr2a	A	T	14: 74,642,209	I93L	probably damaging	Het
Itpr2	T	G	6: 146,234,008	K1775N	probably damaging	Het
Kcnt1	G	A	2: 25,907,628	V864I	probably damaging	Het
Kcnt2	A	T	1: 140,351,225	Y38F	probably damaging	Het
Limch1	G	A	5: 66,857,954		probably null	Het
Lmtk2	C	T	5: 144,174,285	R608C	possibly damaging	Het
Loxhd1	C	T	18: 77,425,757		probably benign	Het
Lpin2	A	T	17: 71,215,022	E17V	probably damaging	Het
Lrrc34	A	T	3: 30,629,993	F342I	probably benign	Het
Lyzl6	A	G	11: 103,636,752		probably null	Het
Map3k4	A	C	17: 12,258,041		probably benign	Het
Mocs3	C	T	2: 168,231,682	P350S	probably benign	Het
Myrf	G	C	19: 10,218,162	T428S	probably benign	Het
Naip2	A	C	13: 100,161,782	I582S	probably benign	Het
Olfr1263	A	C	2: 90,015,772	I281L	probably damaging	Het
Olfr51	A	G	11: 51,007,077	Y35C	probably damaging	Het
Olfr859	G	T	9: 19,808,543	S75I	probably damaging	Het
Pdzrn4	A	G	15: 92,757,657	E477G	possibly damaging	Het
Rab5b	C	T	10: 128,682,903	R120Q	probably benign	Het
Rims2	G	T	15: 39,462,615		probably null	Het
Samd4b	C	T	7: 28,423,448	A62T	probably damaging	Het
Scamp1	T	C	13: 94,210,580	N192S	probably benign	Het
Scnn1g	T	C	7: 121,746,579		probably benign	Het
Setd1a	T	G	7: 127,788,186		probably benign	Het
Setdb1	A	G	3: 95,349,881		probably benign	Het
Slc2a7	T	C	4: 150,166,366	S415P	probably benign	Het
Strip2	A	T	6: 29,937,651	Y526F	possibly damaging	Het
Syne2	A	G	12: 75,880,177	D69G	probably damaging	Het
Syt13	C	A	2: 92,915,251	A22E	probably benign	Het
Tm9sf2	T	C	14: 122,155,368	F432S	probably benign	Het
Vmn2r49	A	T	7: 9,976,430	W792R	probably damaging	Het
Zfp292	T	C	4: 34,808,227	S1606G	probably benign	Het
Zfp518a	A	T	19: 40,912,221	H198L	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
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
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
Z1088:Aasdh	UTSW	5	76901157	splice site	probably null
Z1176:Aasdh	UTSW	5	76891796	critical splice acceptor site	probably null

Predicted Primers

PCR Primer
(F):5'- AGGTTGACAATAGAGACCAATTTCCCG -3'
(R):5'- AAGCCTGCTTTCAGGAGAATCCAAG -3'

Sequencing Primer
(F):5'- GAATTCCTCCAAAGTCACAGTG -3'
(R):5'- caatgctggggactggac -3'

Posted On

2013-04-24