Mutagenetix > Incidental Mutation

Incidental Mutation 'R7703:Aasdh'

594110

Institutional Source

Beutler Lab

Gene Symbol

Aasdh

Ensembl Gene

ENSMUSG00000055923

Gene Name

aminoadipate-semialdehyde dehydrogenase

Synonyms

A230062G08Rik

MMRRC Submission

045764-MU

Accession Numbers

Genbank: NM_173765.3; Ensembl: ENSMUST00000120963

Essential gene?

Probably non essential (E-score: 0.218) question?

Stock #

R7703 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

76873659-76905514 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 76888077 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 387 (D387G)

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: D387G

PolyPhen 2 Score 0.990 (Sensitivity: 0.72; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000069279
Gene: ENSMUSG00000055923
AA Change: D387G

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: D387G

PolyPhen 2 Score 0.990 (Sensitivity: 0.72; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000113792
Gene: ENSMUSG00000055923
AA Change: D387G

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

SMART Domains

Protein: ENSMUSP00000121050
Gene: ENSMUSG00000055923

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000126741
AA Change: D387G

PolyPhen 2 Score 0.974 (Sensitivity: 0.76; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000118854
Gene: ENSMUSG00000055923
AA Change: D387G

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000146570
AA Change: D387G

PolyPhen 2 Score 0.990 (Sensitivity: 0.72; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000117639
Gene: ENSMUSG00000055923
AA Change: D387G

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

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.2%

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: 65 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1810065E05Rik	T	C	11: 58,425,767	I191T	probably damaging	Het
2310003L06Rik	T	C	5: 87,972,812	L476P	possibly damaging	Het
Ahsa2	T	A	11: 23,490,415	T327S	probably benign	Het
Ap3d1	A	T	10: 80,717,844	V523E	probably damaging	Het
Baz2b	C	A	2: 59,917,425	R1298L	probably damaging	Het
Cacna2d3	T	C	14: 29,043,546	T802A	possibly damaging	Het
Cdh23	G	T	10: 60,337,264	T1714K	probably damaging	Het
Chrna3	A	T	9: 55,016,124	D133E	probably benign	Het
Cnot1	C	T	8: 95,760,098		probably null	Het
Col16a1	A	T	4: 130,096,502	N1396Y	unknown	Het
Cox11	A	G	11: 90,638,419	N77S	probably benign	Het
Ctsf	T	G	19: 4,856,539	F165V	probably damaging	Het
Cytip	A	G	2: 58,147,908	V148A	probably damaging	Het
Diaph1	T	C	18: 37,890,809	I659V	unknown	Het
Dmxl2	A	T	9: 54,461,086	M26K	probably benign	Het
Erp44	T	A	4: 48,196,904	I340F	probably benign	Het
Fam186a	A	G	15: 99,954,797	M180T	unknown	Het
Frem2	C	T	3: 53,522,168	V2793I	probably benign	Het
Gm19410	A	G	8: 35,799,385	E1064G	probably damaging	Het
Gria4	T	C	9: 4,503,588	I343V	probably benign	Het
Grsf1	T	A	5: 88,671,291	N228Y	probably damaging	Het
Hist2h3b	C	A	3: 96,268,993	Y100*	probably null	Het
Ighv1-18	A	T	12: 114,682,761	N74K	probably benign	Het
Kcnh6	A	T	11: 106,023,877	T703S	probably benign	Het
Lrp1b	T	A	2: 41,110,786	D2256V		Het
Lrrc63	T	C	14: 75,123,007	T352A	possibly damaging	Het
Lztfl1	T	C	9: 123,702,129	E258G	probably damaging	Het
Mcph1	T	C	8: 18,671,106	I650T	possibly damaging	Het
Mep1a	T	C	17: 43,478,106	D606G	possibly damaging	Het
Muc16	T	C	9: 18,605,282	I313M		Het
Myh7b	A	G	2: 155,620,436	Y353C	probably null	Het
Nfatc1	A	G	18: 80,682,289	L420P	probably damaging	Het
Olfml1	A	G	7: 107,571,185	E93G	probably damaging	Het
Olfr251	A	G	9: 38,378,061	H54R	probably benign	Het
Olfr449	A	T	6: 42,838,004	E41V	probably damaging	Het
Pax1	A	T	2: 147,366,114	N214I	probably damaging	Het
Pcdhb17	C	A	18: 37,486,748	H530Q	probably benign	Het
Pcdhgb7	A	T	18: 37,752,268	M164L	probably benign	Het
Pcolce	T	C	5: 137,605,212	N453S	probably benign	Het
Prr36	T	C	8: 4,212,982	T895A	probably benign	Het
Ptprq	C	T	10: 107,644,146	V1088I	probably benign	Het
Rab5a	T	A	17: 53,500,457	F174I	probably damaging	Het
Rapgef4	A	G	2: 72,179,971	D291G	probably benign	Het
Rbm25	A	T	12: 83,675,090	K683N	possibly damaging	Het
Rbpj	T	C	5: 53,645,898	I156T	probably damaging	Het
Rgsl1	A	G	1: 153,793,864	S259P	possibly damaging	Het
Ring1	T	C	17: 34,023,135	D100G	probably damaging	Het
Ryr3	A	T	2: 112,859,765	D1166E	probably damaging	Het
Sacs	A	G	14: 61,206,090	K1862E	possibly damaging	Het
Scamp5	A	G	9: 57,447,182	I63T	possibly damaging	Het
Sept14	C	T	5: 129,686,028	A334T	possibly damaging	Het
Sh3rf2	A	T	18: 42,156,136	Q706L	probably benign	Het
Skap2	A	T	6: 51,907,954	H242Q	probably benign	Het
Tfpt	A	G	7: 3,620,745		probably null	Het
Thegl	T	C	5: 77,016,597	I149T	probably benign	Het
Thg1l	T	G	11: 45,955,293	D58A	probably damaging	Het
Thyn1	A	G	9: 27,006,847	E177G	probably benign	Het
Tmem151b	C	T	17: 45,545,798	A239T	probably damaging	Het
Ttc21a	T	C	9: 119,959,029	V840A	probably benign	Het
Usp32	A	T	11: 85,077,327	V170E	probably damaging	Het
Vmn2r29	A	G	7: 7,231,865	V674A	probably benign	Het
Vwa8	A	G	14: 79,026,073	N781S	probably damaging	Het
Zbtb7c	C	A	18: 76,137,362	Q174K	probably benign	Het
Zeb1	T	C	18: 5,766,917	I476T	probably benign	Het
Zfp91	A	T	19: 12,776,877	D282E	probably benign	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
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'- TCCTTAGAATACTGCTGCTAGACATAG -3'
(R):5'- AGACTTGTTCCTCATGCAGTC -3'

Sequencing Primer
(F):5'- CTGCTGCTAGACATAGTTTTATCTAC -3'
(R):5'- CCTCATGCAGTCTTTGAATTGTACGG -3'

Posted On

2019-11-12