Mutagenetix > Incidental Mutations

Incidental Mutation 'R0386:Aasdh'

31282

Institutional Source

Beutler Lab

Gene Symbol

Aasdh

Ensembl Gene

ENSMUSG00000055923

Gene Name

aminoadipate-semialdehyde dehydrogenase

Synonyms

A230062G08Rik

MMRRC Submission

038592-MU

Accession Numbers

Genbank: NM_173765.3; Ensembl: ENSMUST00000120963

Is this an essential gene?

Probably non essential (E-score: 0.219) question?

Stock #

R0386 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

76873659-76905514 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 76896461 bp

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 194 (V194A)

Ref Sequence

ENSEMBL: ENSMUSP00000113792 (fasta)

Gene Model

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000069709
AA Change: V194A

PolyPhen 2 Score 0.983 (Sensitivity: 0.75; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000069279
Gene: ENSMUSG00000055923
AA Change: V194A

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: V194A

PolyPhen 2 Score 0.983 (Sensitivity: 0.75; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000113792
Gene: ENSMUSG00000055923
AA Change: V194A

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: ENSMUST00000123682
AA Change: V194A

PolyPhen 2 Score 0.905 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000121050
Gene: ENSMUSG00000055923
AA Change: V194A

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

Predicted Effect

possibly damaging
Transcript: ENSMUST00000126741
AA Change: V194A

PolyPhen 2 Score 0.837 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000118854
Gene: ENSMUSG00000055923
AA Change: V194A

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

possibly damaging
Transcript: ENSMUST00000146570
AA Change: V194A

PolyPhen 2 Score 0.950 (Sensitivity: 0.79; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000117639
Gene: ENSMUSG00000055923
AA Change: V194A

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

0.6367

Coding Region Coverage

1x: 99.1%
3x: 98.1%
10x: 95.5%
20x: 90.3%

Validation Efficiency

98% (56/57)

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: 55 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adamts13	G	A	2: 26,986,679		probably null	Het
Ahnak	T	C	19: 9,011,144	M3264T	possibly damaging	Het
Birc6	T	A	17: 74,599,340	C1409S	probably damaging	Het
Camta1	C	A	4: 151,075,140	R1614L	probably damaging	Het
Dnah2	A	G	11: 69,447,861	V3161A	probably damaging	Het
Dnah5	A	T	15: 28,383,581	Y2983F	probably damaging	Het
Dnah6	G	A	6: 73,083,124	L2774F	probably damaging	Het
Dst	A	T	1: 34,217,836	T4398S	probably damaging	Het
Efcab5	G	A	11: 77,140,923	R42W	probably damaging	Het
Efcab5	A	T	11: 77,172,378	M96K	probably benign	Het
Elavl4	A	G	4: 110,206,705		probably benign	Het
Flt4	G	A	11: 49,644,386	A1214T	probably benign	Het
Fn1	G	T	1: 71,595,786	T2127N	probably damaging	Het
Foxj1	A	T	11: 116,331,803	S391R	possibly damaging	Het
Gabrb1	A	T	5: 72,108,807	Y269F	probably damaging	Het
Ghitm	A	G	14: 37,125,911	S259P	possibly damaging	Het
Gm16332	A	G	1: 139,924,190		noncoding transcript	Het
Gm16380	T	A	9: 53,884,443		noncoding transcript	Het
Gm9869	A	T	9: 60,838,062		probably benign	Het
Gm9936	G	A	5: 114,857,131	Q142*	probably null	Het
Hmbs	T	C	9: 44,337,008	Y260C	probably benign	Het
Hoxc5	T	A	15: 103,015,352	C193*	probably null	Het
Idh2	C	T	7: 80,098,257	A232T	probably damaging	Het
Lce1j	T	C	3: 92,789,388	K28E	unknown	Het
Lpgat1	C	T	1: 191,719,348		probably benign	Het
Lyst	T	C	13: 13,708,214		probably benign	Het
Megf11	A	G	9: 64,640,078	N235D	probably damaging	Het
Mst1r	T	A	9: 107,916,804		probably null	Het
Nr2c2ap	A	G	8: 70,131,587	D9G	probably benign	Het
Obscn	T	C	11: 59,136,339	T13A	probably damaging	Het
Ofcc1	A	C	13: 40,214,474	L188*	probably null	Het
Olfr1028	A	G	2: 85,951,873	E270G	probably damaging	Het
Olfr432	A	T	1: 174,050,399	T9S	probably benign	Het
Oma1	A	T	4: 103,325,201		probably benign	Het
Pcm1	T	C	8: 41,316,023	F1642S	probably damaging	Het
Pglyrp2	A	G	17: 32,420,862	M1T	probably null	Het
Pnpla5	G	T	15: 84,120,719	L144M	probably damaging	Het
Prdm10	C	A	9: 31,316,300	T67K	probably damaging	Het
Ralgapa1	A	T	12: 55,708,067	H1193Q	probably benign	Het
Sall1	A	G	8: 89,032,604	S291P	probably damaging	Het
Sdk2	T	C	11: 113,893,464	T150A	probably damaging	Het
Sel1l2	T	A	2: 140,275,441	Y170F	probably benign	Het
Sema4a	C	T	3: 88,436,800	V715I	possibly damaging	Het
Smgc	G	A	15: 91,854,638	A500T	probably benign	Het
Spef2	A	G	15: 9,584,062	V1639A	probably damaging	Het
Srrm4	A	G	5: 116,482,378		probably benign	Het
Tbc1d23	G	A	16: 57,189,273	H418Y	probably damaging	Het
Tbk1	A	G	10: 121,584,254	L10P	probably damaging	Het
Thumpd3	G	A	6: 113,065,660		probably null	Het
Trp53bp1	G	T	2: 121,204,943	T1609K	probably damaging	Het
Tut1	A	G	19: 8,955,555	N84S	probably benign	Het
Urb1	C	T	16: 90,796,399	G282R	probably damaging	Het
Usp19	A	T	9: 108,499,711	D1160V	probably damaging	Het
Usp9y	A	G	Y: 1,316,933	V1872A	probably damaging	Het
Zfp276	C	A	8: 123,259,503	Y386*	probably null	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	unclassified	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
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
R8152:Aasdh	UTSW	5	76896458	missense	probably damaging	1.00
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'- TCACAGGTGAGCCTTTACCCATCG -3'
(R):5'- CCTGGCACTCTTCAGACTGCATTG -3'

Sequencing Primer
(F):5'- cacacacacacacacacac -3'
(R):5'- CTTCAGACTGCATTGGGAAGATG -3'

Posted On

2013-04-24