Mutagenetix > Incidental Mutation

Incidental Mutation 'R8152:Aasdh'

633005

Institutional Source

Beutler Lab

Gene Symbol

Aasdh

Ensembl Gene

ENSMUSG00000055923

Gene Name

aminoadipate-semialdehyde dehydrogenase

Synonyms

A230062G08Rik

MMRRC Submission

Accession Numbers

Genbank: NM_173765.3; Ensembl: ENSMUST00000120963

Is this an essential gene?

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

Stock #

R8152 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

76873659-76905514 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 76896458 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Proline at position 195 (L195P)

Ref Sequence

ENSEMBL: ENSMUSP00000113792 (fasta)

Gene Model

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

AlphaFold

Q80WC9

Predicted Effect

probably damaging
Transcript: ENSMUST00000069709
AA Change: L195P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000069279
Gene: ENSMUSG00000055923
AA Change: L195P

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: L195P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000113792
Gene: ENSMUSG00000055923
AA Change: L195P

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: L195P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000121050
Gene: ENSMUSG00000055923
AA Change: L195P

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000126741
AA Change: L195P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000118854
Gene: ENSMUSG00000055923
AA Change: L195P

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000146570
AA Change: L195P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000117639
Gene: ENSMUSG00000055923
AA Change: L195P

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

Meta Mutation Damage Score

0.9530

Coding Region Coverage

1x: 99.8%
3x: 99.6%
10x: 98.3%
20x: 92.4%

Validation Efficiency

99% (74/75)

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: 71 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adgrb1	T	C	15: 74,541,611	V548A	probably benign	Het
Adgrb1	T	C	15: 74,545,000	I752T	probably damaging	Het
Adgrb3	T	C	1: 25,221,757		probably null	Het
Adh6a	G	T	3: 138,327,514		probably null	Het
Aldh18a1	A	G	19: 40,565,012	S431P	probably benign	Het
Arap3	T	C	18: 37,991,357	R310G	possibly damaging	Het
Atad5	T	C	11: 80,095,170	V361A	possibly damaging	Het
Atp8a1	C	A	5: 67,762,582	M380I		Het
Calcrl	C	T	2: 84,339,249	V363M	possibly damaging	Het
Camsap1	G	T	2: 25,940,241	D490E	probably damaging	Het
Cd72	T	A	4: 43,452,601	I131F	possibly damaging	Het
Cdh2	C	T	18: 16,629,519	G513D	probably benign	Het
Cela1	T	C	15: 100,682,941	T145A	probably benign	Het
Cep250	A	G	2: 155,969,307	T358A	probably benign	Het
Cfap99	C	T	5: 34,323,391	R462C	probably damaging	Het
Cmtm1	A	G	8: 104,309,941	S19P	possibly damaging	Het
Crebbp	A	T	16: 4,085,081	M2098K	possibly damaging	Het
Csmd3	T	C	15: 47,669,464		probably null	Het
Ctsm	C	G	13: 61,539,649	V100L	probably benign	Het
Cyp2c67	C	A	19: 39,640,008	C164F	probably benign	Het
Cyp2d11	T	C	15: 82,392,487	I84V	probably benign	Het
Cyp2j11	T	C	4: 96,307,292	D389G	probably damaging	Het
Dctd	A	G	8: 48,111,690	D9G	probably benign	Het
Fam221a	C	A	6: 49,378,556	F197L	probably damaging	Het
Fbxl4	T	G	4: 22,427,225	C489G	possibly damaging	Het
Fmn1	C	T	2: 113,365,692	T579M	unknown	Het
Fndc3a	G	A	14: 72,574,380	L337F	probably damaging	Het
Frmpd2	A	G	14: 33,543,287		probably null	Het
Gdnf	C	T	15: 7,834,762	S218L	probably damaging	Het
Gen1	A	G	12: 11,243,265	F444L	probably damaging	Het
Gk5	A	T	9: 96,174,703	D391V	probably damaging	Het
Gys2	T	C	6: 142,427,410	T612A	probably benign	Het
Il17ra	A	G	6: 120,482,102	D738G	probably benign	Het
Isx	T	C	8: 74,889,999	F85L	probably damaging	Het
Kcnh5	T	C	12: 74,897,859	D872G	possibly damaging	Het
Kif26b	T	G	1: 178,679,229	V290G	possibly damaging	Het
Ksr2	T	C	5: 117,671,458	C429R	probably damaging	Het
Loxhd1	A	C	18: 77,388,399	I1121L	possibly damaging	Het
Map2	T	C	1: 66,414,743	F931L	probably benign	Het
Marc2	T	A	1: 184,841,312	M130L	possibly damaging	Het
Mepce	T	C	5: 137,784,673	I464V	probably benign	Het
Mpo	G	T	11: 87,801,649	V538L	probably benign	Het
Myom1	T	C	17: 71,084,295	V933A	probably damaging	Het
Nckap1l	T	G	15: 103,478,530		probably null	Het
Ncmap	C	A	4: 135,377,064	M19I	possibly damaging	Het
Neb	T	A	2: 52,183,836	I5920F	probably benign	Het
Nnt	C	T	13: 119,374,676	V355I	probably benign	Het
Nr1i2	C	T	16: 38,252,964	G217S	probably damaging	Het
Nsd1	A	G	13: 55,310,367	R2098G	possibly damaging	Het
Parp4	A	G	14: 56,647,246	T1261A	probably benign	Het
Pcgf3	A	T	5: 108,487,857	N131I	probably benign	Het
Plcb2	C	T	2: 118,710,821	D1012N	probably benign	Het
Plcl2	T	C	17: 50,607,661	I566T	probably damaging	Het
Plekha1	G	A	7: 130,908,372	A283T	probably damaging	Het
Prag1	A	T	8: 36,099,925	M77L	possibly damaging	Het
Rhbdl2	A	T	4: 123,824,918	I222L	probably benign	Het
Rnh1	A	C	7: 141,160,704	V446G	probably damaging	Het
Sash1	C	T	10: 8,751,041	R193H	possibly damaging	Het
Sgf29	G	T	7: 126,672,654	V284L	possibly damaging	Het
Skiv2l2	T	A	13: 112,872,983	K961*	probably null	Het
Slc12a3	G	A	8: 94,330,384	G95D	probably benign	Het
Slc17a7	T	C	7: 45,170,290	V172A	probably damaging	Het
Spta1	T	C	1: 174,217,944	V1556A	probably benign	Het
Tex15	G	A	8: 33,572,893	E784K	possibly damaging	Het
Ttn	T	C	2: 76,842,788	E11224G	unknown	Het
Wipf1	G	A	2: 73,437,535	P173L	possibly damaging	Het
Zdbf2	C	T	1: 63,306,413	T1317I	possibly damaging	Het
Zfat	C	T	15: 68,101,506	A1147T	probably benign	Het
Zfp217	G	A	2: 170,119,651	S252F	possibly damaging	Het
Zhx3	T	G	2: 160,780,775	I491L	probably benign	Het
Zranb3	T	C	1: 127,954,995	D1061G	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
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
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

Predicted Primers

PCR Primer
(F):5'- AAACTGGCATCAAACTTGGTC -3'
(R):5'- TGAGACAGTTCTGAACTATGACAC -3'

Sequencing Primer
(F):5'- AACTGGCATCAAACTTGGTCTCTTTC -3'
(R):5'- TGACACAGTTTCCGTGGAAC -3'

Posted On

2020-06-30