Mutagenetix > Incidental Mutations

Incidental Mutation 'R3747:Aasdh'

309852

Institutional Source

Beutler Lab

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: 0.137) question?

Stock #

R3747 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

76873659-76905514 bp(-) (GRCm38)

Type of Mutation

nonsense

DNA Base Change (assembly)

C to A at 76888654 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Stop codon at position 347 (E347*)

Ref Sequence

ENSEMBL: ENSMUSP00000117639 (fasta)

Gene Model

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

AlphaFold

Q80WC9

Predicted Effect

probably null
Transcript: ENSMUST00000069709
AA Change: E347*

SMART Domains

Protein: ENSMUSP00000069279
Gene: ENSMUSG00000055923
AA Change: E347*

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 null
Transcript: ENSMUST00000120963
AA Change: E347*

SMART Domains

Protein: ENSMUSP00000113792
Gene: ENSMUSG00000055923
AA Change: E347*

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 null
Transcript: ENSMUST00000126741
AA Change: E347*

SMART Domains

Protein: ENSMUSP00000118854
Gene: ENSMUSG00000055923
AA Change: E347*

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000135697

Predicted Effect

probably null
Transcript: ENSMUST00000146570
AA Change: E347*

SMART Domains

Protein: ENSMUSP00000117639
Gene: ENSMUSG00000055923
AA Change: E347*

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

Meta Mutation Damage Score

0.9755

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.4%
20x: 95.6%

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: 60 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abhd18	A	G	3: 40,933,573	N284S	probably benign	Het
Adam12	T	C	7: 134,172,865	D5G	probably damaging	Het
Adam26b	A	C	8: 43,521,197	V256G	probably benign	Het
Aga	T	A	8: 53,517,821	I192N	probably benign	Het
Ago1	A	G	4: 126,461,044	I125T	probably benign	Het
Alk	A	G	17: 71,911,565	S762P	probably damaging	Het
Bckdk	C	A	7: 127,905,418	R105S	probably damaging	Het
Cby3	T	C	11: 50,359,674	*236R	probably null	Het
Cfhr1	C	A	1: 139,557,634		probably null	Het
Clcn1	T	A	6: 42,299,915	Y393N	probably damaging	Het
Cx3cr1	T	C	9: 120,052,066	H90R	probably damaging	Het
Cyp3a16	T	A	5: 145,442,071	K380M	probably damaging	Het
Cyp4v3	G	A	8: 45,315,708	R272*	probably null	Het
Dazap1	C	T	10: 80,287,664	R391C	possibly damaging	Het
Dgkh	T	A	14: 78,584,445	E876V	probably damaging	Het
Dnah8	A	T	17: 30,784,174	K3616*	probably null	Het
E2f1	C	G	2: 154,564,022	G144R	probably damaging	Het
Fam221a	A	G	6: 49,372,696	D2G	probably damaging	Het
Fam43a	C	T	16: 30,601,846	T416I	probably benign	Het
Fam71a	T	G	1: 191,164,010	Q145H	probably damaging	Het
Fam90a1a	C	A	8: 21,963,205	S192*	probably null	Het
Foxd1	G	C	13: 98,355,916	A433P	unknown	Het
Gm10152	G	A	7: 144,763,200		probably null	Het
Gm12800	T	A	4: 101,909,876	D107E	possibly damaging	Het
Hipk3	T	A	2: 104,441,283	R435*	probably null	Het
Hnrnpab	T	A	11: 51,602,646	Y245F	probably benign	Het
Islr2	A	T	9: 58,199,642	S112T	probably benign	Het
Itgb7	A	T	15: 102,222,777	V280D	probably damaging	Het
Kndc1	G	A	7: 139,927,904		probably null	Het
Lrba	T	G	3: 86,375,953	L1858R	probably damaging	Het
Mroh2b	G	A	15: 4,952,246	W1513*	probably null	Het
Nbeal1	A	G	1: 60,195,023	D51G	probably damaging	Het
Ncoa6	G	A	2: 155,411,641	P939L	probably benign	Het
Ndst3	A	G	3: 123,671,552	I257T	probably benign	Het
Nolc1	CAG	CAGAAG	19: 46,081,356		probably benign	Het
Nuf2	T	A	1: 169,525,376	N20I	probably damaging	Het
Osbpl7	T	C	11: 97,056,053	V223A	probably damaging	Het
Pcm1	T	C	8: 41,332,004	I2064T	probably benign	Het
Pkd1	A	G	17: 24,591,461	R90G	possibly damaging	Het
Pkdrej	T	A	15: 85,821,077	K219N	probably damaging	Het
Ppil4	A	T	10: 7,814,693	Q370L	probably benign	Het
Primpol	A	T	8: 46,599,813	D154E	probably benign	Het
Rb1cc1	T	G	1: 6,248,742	V778G	possibly damaging	Het
Sgms1	A	T	19: 32,159,594	S191T	possibly damaging	Het
Sned1	T	A	1: 93,261,751	F303Y	probably damaging	Het
Sp9	T	A	2: 73,274,308	M402K	probably damaging	Het
Spon1	T	C	7: 113,766,384	L19P	probably damaging	Het
Spon1	T	A	7: 114,016,791	V297E	possibly damaging	Het
Tlr5	T	C	1: 182,974,439	I436T	probably benign	Het
Tmem63a	G	A	1: 180,963,114	D446N	possibly damaging	Het
Tpcn2	T	C	7: 145,255,523	H682R	probably damaging	Het
Ugt1a6a	T	C	1: 88,139,149	Y226H	probably damaging	Het
Upf1	G	T	8: 70,333,350	N975K	possibly damaging	Het
Ush2a	G	A	1: 188,810,292	G3352S	probably benign	Het
Vmn1r39	T	C	6: 66,804,870	N155D	probably benign	Het
Vwa5b2	A	G	16: 20,598,326		probably benign	Het
Yipf4	G	A	17: 74,496,672		probably null	Het
Zdhhc17	T	C	10: 110,944,420	I624M	probably benign	Het
Zfhx4	G	A	3: 5,243,165	E484K	possibly damaging	Het
Zswim4	G	A	8: 84,212,047	P1069S	possibly 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
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
R9361:Aasdh	UTSW	5	76882378	missense	probably benign	0.01
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'- GGCAAGAGTGTGCTTCCTAC -3'
(R):5'- CAACGCCAACATTGCTGAG -3'

Sequencing Primer
(F):5'- TACGCAAGGACATGACTTGTAC -3'
(R):5'- CGCCAACATTGCTGAGAAGATTTG -3'

Posted On

2015-04-17