Mutagenetix > Incidental Mutation

Incidental Mutation 'R1469:Aasdh'

164747

Institutional Source

Beutler Lab

Gene Symbol

Aasdh

Ensembl Gene

ENSMUSG00000055923

Gene Name

aminoadipate-semialdehyde dehydrogenase

Synonyms

A230062G08Rik

MMRRC Submission

039522-MU

Accession Numbers

Genbank: NM_173765.3; Ensembl: ENSMUST00000120963

Essential gene?

Probably non essential (E-score: 0.163) question?

Stock #

R1469 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

76873659-76905514 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 76891679 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Valine to Glutamic Acid at position 261 (V261E)

Ref Sequence

ENSEMBL: ENSMUSP00000117639 (fasta)

Gene Model

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

AlphaFold

Q80WC9

Predicted Effect

possibly damaging
Transcript: ENSMUST00000069709
AA Change: V261E

PolyPhen 2 Score 0.948 (Sensitivity: 0.79; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000069279
Gene: ENSMUSG00000055923
AA Change: V261E

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

possibly damaging
Transcript: ENSMUST00000120963
AA Change: V261E

PolyPhen 2 Score 0.948 (Sensitivity: 0.79; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000113792
Gene: ENSMUSG00000055923
AA Change: V261E

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

possibly damaging
Transcript: ENSMUST00000126741
AA Change: V261E

PolyPhen 2 Score 0.812 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000118854
Gene: ENSMUSG00000055923
AA Change: V261E

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000135697

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000136080

Predicted Effect

probably damaging
Transcript: ENSMUST00000146570
AA Change: V261E

PolyPhen 2 Score 0.972 (Sensitivity: 0.77; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000117639
Gene: ENSMUSG00000055923
AA Change: V261E

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000201283

Meta Mutation Damage Score

0.7282

Coding Region Coverage

1x: 98.9%
3x: 95.3%
10x: 69.3%
20x: 30.3%

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: 94 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca15	A	G	7: 120,382,497	E1058G	probably benign	Het
Abcb5	T	G	12: 118,867,946	I1224L	possibly damaging	Het
Actn4	A	G	7: 28,905,328	V348A	probably benign	Het
Agtr1b	A	T	3: 20,315,500	L314H	probably damaging	Het
Ankrd55	T	C	13: 112,367,926	M402T	probably benign	Het
Asap2	A	G	12: 21,213,179	Q265R	probably benign	Het
Atp2b4	G	A	1: 133,706,939	R1124C	probably damaging	Het
Atp2c1	A	T	9: 105,435,152	C353*	probably null	Het
Atp8b5	T	A	4: 43,291,733		probably null	Het
Baz1b	T	A	5: 135,217,979	Y761N	probably damaging	Het
Bend6	A	G	1: 33,864,743	V38A	probably benign	Het
Camk1g	T	C	1: 193,362,091	E5G	possibly damaging	Het
Ccdc14	T	A	16: 34,706,782	H352Q	probably damaging	Het
Cdh2	A	G	18: 16,624,267	V641A	possibly damaging	Het
Celsr2	C	A	3: 108,414,108	D463Y	probably damaging	Het
Cfap43	A	G	19: 47,896,875	Y434H	probably damaging	Het
Cnih2	T	C	19: 5,093,702	Y142C	probably damaging	Het
Coa5	T	A	1: 37,420,600	R71*	probably null	Het
Csmd3	A	T	15: 47,669,202	Y2532*	probably null	Het
Cytl1	A	T	5: 37,735,647	M34L	probably benign	Het
Dctn1	T	A	6: 83,192,889	I590N	probably damaging	Het
Dhx57	T	C	17: 80,254,418	H889R	probably damaging	Het
Dock10	A	G	1: 80,512,558	I1948T	probably benign	Het
Dock3	A	T	9: 106,955,709	N1034K	probably benign	Het
Dzip1l	G	A	9: 99,659,776		probably null	Het
Eif4g1	T	A	16: 20,680,008	V439E	possibly damaging	Het
Eml5	T	C	12: 98,858,823	I712V	probably benign	Het
Epha3	C	T	16: 63,653,494	G300D	probably damaging	Het
Erbb4	A	C	1: 68,560,682	S79A	probably damaging	Het
Fam189a2	G	A	19: 23,973,606	T537I	probably benign	Het
Gclc	T	C	9: 77,781,137	V205A	probably benign	Het
Gdpd4	A	G	7: 97,974,466		probably null	Het
Gm11564	C	T	11: 99,815,232	C124Y	unknown	Het
Gm16494	T	C	17: 47,016,844	E38G	probably damaging	Het
Gtf2h1	T	C	7: 46,805,125		probably null	Het
Gtsf2	G	T	15: 103,441,217	R68S	probably benign	Het
Heatr5b	T	C	17: 78,808,384	Q881R	probably damaging	Het
Hmox1	C	A	8: 75,098,835	L236I	probably benign	Het
Ighv8-12	T	C	12: 115,648,343	I7V	probably benign	Het
Izumo1	T	C	7: 45,623,013	S73P	probably damaging	Het
Kif1bp	A	T	10: 62,559,450	F471Y	probably damaging	Het
Knl1	A	G	2: 119,071,346	N1176S	possibly damaging	Het
Mecom	A	T	3: 29,980,048	L493Q	probably damaging	Het
Mprip	T	C	11: 59,759,190	V1240A	probably damaging	Het
Mrpl3	T	C	9: 105,077,002	S302P	probably damaging	Het
Mycbp2	T	C	14: 103,188,520	T2390A	probably damaging	Het
Myo1c	T	C	11: 75,669,961	S766P	probably damaging	Het
Myo9b	A	G	8: 71,291,036	Q247R	probably damaging	Het
Nav3	G	A	10: 109,760,508	T1423I	probably damaging	Het
Nefh	A	T	11: 4,940,066	I851N	probably benign	Het
Nup98	T	C	7: 102,138,801	T1004A	probably benign	Het
Olfr175-ps1	G	A	16: 58,824,610	T33I	probably benign	Het
Olfr23	T	C	11: 73,940,557	F104L	probably benign	Het
Olfr381	G	A	11: 73,486,323	S167L	possibly damaging	Het
Olfr502	T	C	7: 108,523,204	T249A	probably benign	Het
Osgin1	G	T	8: 119,445,385	R306L	possibly damaging	Het
Otof	A	G	5: 30,380,227	L1246P	probably benign	Het
Pde8a	T	A	7: 81,302,271	N273K	probably damaging	Het
Phf14	T	A	6: 11,933,727	M196K	possibly damaging	Het
Pkd1l3	T	C	8: 109,646,953	S1374P	possibly damaging	Het
Pkhd1l1	T	C	15: 44,536,886	V2142A	probably benign	Het
Plb1	A	G	5: 32,354,826	E1318G	possibly damaging	Het
Plekhh2	A	G	17: 84,575,771	I756V	probably benign	Het
Primpol	A	G	8: 46,593,637	V208A	probably benign	Het
Ptch2	C	A	4: 117,108,465	A389E	probably benign	Het
Pzp	A	G	6: 128,512,356	Y431H	probably benign	Het
Rnf43	G	A	11: 87,731,407	G445R	probably damaging	Het
Scn5a	A	T	9: 119,533,661		probably null	Het
Sfi1	CCTCTC	CCTCTCTC	11: 3,177,419		probably benign	Het
Shisa9	T	A	16: 11,985,071	M164K	probably damaging	Het
Skint1	A	G	4: 112,025,511	I251V	probably benign	Het
Slc16a14	C	T	1: 84,929,461	D31N	probably damaging	Het
Slc22a13	T	C	9: 119,193,295	S548G	possibly damaging	Het
Slc4a9	T	C	18: 36,531,101	F316L	probably benign	Het
Smchd1	C	T	17: 71,349,730	R1914H	probably damaging	Het
Snx16	C	T	3: 10,434,371	D200N	probably damaging	Het
Spock3	A	G	8: 62,951,900	D34G	probably damaging	Het
Sspo	T	C	6: 48,490,982	C4154R	probably damaging	Het
Sytl3	C	T	17: 6,687,324	A131V	probably benign	Het
Tacc1	T	A	8: 25,182,255	D319V	probably benign	Het
Tead1	A	T	7: 112,876,184	K234I	probably damaging	Het
Tgfbrap1	C	T	1: 43,075,458	V161I	probably benign	Het
Tnfaip3	A	G	10: 19,008,269	V121A	probably damaging	Het
Tnnt2	A	G	1: 135,852,055	T297A	possibly damaging	Het
Trappc11	G	A	8: 47,503,965	L809F	probably damaging	Het
Ttn	T	C	2: 76,771,525	I18598V	probably benign	Het
Ugt1a10	G	A	1: 88,216,254	A199T	probably damaging	Het
Unc5a	A	G	13: 54,996,419	N186D	probably damaging	Het
Uqcrfs1	C	A	13: 30,540,801	G252V	probably damaging	Het
Vmn2r115	T	C	17: 23,346,018	I293T	probably damaging	Het
Vmn2r9	T	C	5: 108,843,828	T556A	probably benign	Het
Ythdc2	T	A	18: 44,864,462	Y1029N	probably benign	Het
Zfp451	T	A	1: 33,769,813	K989M	possibly damaging	Het
Zfpm1	C	T	8: 122,335,846	T548M	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
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
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'- TGCTAACACATCTGGTTCTGGGC -3'
(R):5'- TTGGGGTTCTTTCCATACCCAAGC -3'

Sequencing Primer
(F):5'- CACTATCACTAATGCACTGGGAGG -3'
(R):5'- GCTCTGTTTGCCTTTAGGTC -3'

Posted On

2014-03-28