Mutagenetix > Incidental Mutation

Incidental Mutation 'R3746:Aasdh'

309802

Institutional Source

Beutler Lab

Gene Symbol

Aasdh

Ensembl Gene

ENSMUSG00000055923

Gene Name

aminoadipate-semialdehyde dehydrogenase

Synonyms

A230062G08Rik

MMRRC Submission

040732-MU

Accession Numbers

Genbank: NM_173765.3; Ensembl: ENSMUST00000120963

Essential gene?

Probably non essential (E-score: 0.146) question?

Stock #

R3746 (G1)

Quality Score

225

Status

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: 97.2%
20x: 95.1%

Validation Efficiency

100% (45/45)

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: 44 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcb5	T	C	12: 118,874,620	D1069G	probably damaging	Het
Ago1	A	G	4: 126,461,044	I125T	probably benign	Het
Ccdc40	T	C	11: 119,264,426	V1164A	probably benign	Het
Chd7	G	A	4: 8,752,537	V345M	probably damaging	Het
Cln6	A	G	9: 62,847,002	I109V	probably benign	Het
Csmd3	A	T	15: 47,849,766	F1604Y	probably benign	Het
Cx3cr1	T	C	9: 120,052,066	H90R	probably damaging	Het
Dip2c	A	T	13: 9,601,473	D674V	probably damaging	Het
Dnah17	T	C	11: 118,082,916	S1935G	probably benign	Het
Eif3g	G	A	9: 20,894,697	R295C	probably benign	Het
Epha5	T	C	5: 84,059,104	K998E	probably damaging	Het
Fam171b	A	T	2: 83,879,600	T539S	probably damaging	Het
Fer1l4	G	T	2: 156,035,048	H1159N	probably benign	Het
Fsip1	A	G	2: 118,233,050	C313R	probably damaging	Het
Gm12800	T	A	4: 101,909,876	D107E	possibly damaging	Het
Gm37240	T	G	3: 84,519,612	N168T	probably benign	Het
Gm7589	T	C	9: 59,145,855		noncoding transcript	Het
Igkv20-101-2	A	T	6: 68,474,958	I66L	possibly damaging	Het
Irf3	T	C	7: 44,998,873	F54S	probably damaging	Het
Lrba	T	G	3: 86,375,953	L1858R	probably damaging	Het
Lrp10	A	T	14: 54,469,266	N520I	possibly damaging	Het
Map3k21	A	G	8: 125,935,100	K479E	probably damaging	Het
Mpdz	A	C	4: 81,363,147	V609G	probably damaging	Het
Olfr65	T	A	7: 103,907,060	M207K	probably benign	Het
Opcml	G	A	9: 28,901,530	V173M	possibly damaging	Het
Osbpl7	T	C	11: 97,056,053	V223A	probably damaging	Het
Pcdh17	A	T	14: 84,533,037	Y985F	probably benign	Het
Piezo1	G	T	8: 122,492,638	F1084L	probably damaging	Het
Pkhd1	A	G	1: 20,058,300	*4060Q	probably null	Het
Plekhn1	T	C	4: 156,225,594	T88A	probably benign	Het
Rmdn2	T	A	17: 79,670,552		probably null	Het
Selenom	A	G	11: 3,517,132	E137G	probably benign	Het
Slc38a7	A	G	8: 95,843,752		probably benign	Het
Slc39a12	T	C	2: 14,396,067		probably benign	Het
Slk	T	G	19: 47,619,809	D400E	possibly damaging	Het
Supt16	A	G	14: 52,180,139	L306P	probably damaging	Het
Tas2r136	A	T	6: 132,777,237	F309Y	probably damaging	Het
Tmem63a	G	A	1: 180,963,114	D446N	possibly damaging	Het
Trim63	G	A	4: 134,315,354	C44Y	probably damaging	Het
Ush2a	G	A	1: 188,810,292	G3352S	probably benign	Het
Vmn1r4	A	G	6: 56,957,131	R207G	probably damaging	Het
Vmn2r76	A	G	7: 86,225,555	V738A	probably benign	Het
Vwa5b2	A	G	16: 20,598,326		probably benign	Het
Zfhx4	G	A	3: 5,243,165	E484K	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
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
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'- CAAGAGTGTGCTTCCTACGC -3'
(R):5'- GCAACGCCAACATTGCTGAG -3'

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

Posted On

2015-04-17