Mutagenetix > Incidental Mutation

Incidental Mutation 'R1446:Aasdh'

158859

Institutional Source

Beutler Lab

Gene Symbol

Aasdh

Ensembl Gene

ENSMUSG00000055923

Gene Name

aminoadipate-semialdehyde dehydrogenase

Synonyms

A230062G08Rik

MMRRC Submission

039501-MU

Accession Numbers

Genbank: NM_173765.3; Ensembl: ENSMUST00000120963

Essential gene?

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

Stock #

R1446 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

76873659-76905514 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 76886289 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Alanine to Threonine at position 472 (A472T)

Ref Sequence

ENSEMBL: ENSMUSP00000117639 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000069709] [ENSMUST00000120963] [ENSMUST00000123682] [ENSMUST00000126741] [ENSMUST00000146570] [ENSMUST00000149602]

AlphaFold

Q80WC9

Predicted Effect

probably benign
Transcript: ENSMUST00000069709
AA Change: A472T

PolyPhen 2 Score 0.304 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000069279
Gene: ENSMUSG00000055923
AA Change: A472T

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: ENSMUST00000120963
AA Change: A472T

PolyPhen 2 Score 0.304 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000113792
Gene: ENSMUSG00000055923
AA Change: A472T

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 benign
Transcript: ENSMUST00000126741

SMART Domains

Protein: ENSMUSP00000118854
Gene: ENSMUSG00000055923

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000135697

Predicted Effect

probably benign
Transcript: ENSMUST00000146570
AA Change: A472T

PolyPhen 2 Score 0.450 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000117639
Gene: ENSMUSG00000055923
AA Change: A472T

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

probably benign
Transcript: ENSMUST00000149602

SMART Domains

Protein: ENSMUSP00000117489
Gene: ENSMUSG00000055923

Domain	Start	End	E-Value	Type
PQQ	21	53	4.37e-2	SMART
PQQ	63	95	2.3e1	SMART
Blast:PQQ	104	130	2e-6	BLAST
PQQ	141	173	2.61e2	SMART
low complexity region	191	200	N/A	INTRINSIC

Coding Region Coverage

1x: 99.0%
3x: 98.0%
10x: 95.3%
20x: 89.6%

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: 72 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adcy4	A	T	14: 55,770,023		probably null	Het
Ahcyl2	T	C	6: 29,891,240	S448P	probably damaging	Het
Anks1b	A	G	10: 90,511,073	Y745C	probably benign	Het
Anxa1	A	T	19: 20,373,739	L339Q	probably damaging	Het
Apoa4	A	G	9: 46,242,293	D64G	probably benign	Het
Arpc1a	A	G	5: 145,101,086		probably null	Het
Bank1	C	T	3: 136,064,143	G727R	probably damaging	Het
Best2	T	C	8: 85,007,964	Q375R	probably benign	Het
Cacna1b	T	A	2: 24,706,177	M501L	probably benign	Het
Col27a1	T	A	4: 63,224,803	Y243N	probably damaging	Het
Cyp11a1	A	T	9: 58,015,277	Q80L	possibly damaging	Het
Dnah10	T	A	5: 124,789,796	W2260R	probably damaging	Het
Dnajc19	T	C	3: 34,057,979	H139R	probably benign	Het
Dppa5a	T	A	9: 78,367,789	N77I	probably benign	Het
Edc4	T	C	8: 105,888,132	S125P	probably damaging	Het
Eid2	T	C	7: 28,268,589	I212T	possibly damaging	Het
Fam234b	T	A	6: 135,209,330		probably null	Het
Frem2	T	C	3: 53,654,596	E830G	probably benign	Het
Fyb	A	T	15: 6,652,466	I765L	probably benign	Het
Fyn	T	G	10: 39,522,779	S124A	probably benign	Het
Gal3st3	T	A	19: 5,306,911	F105I	probably damaging	Het
Gm13762	A	G	2: 88,973,765	I42T	probably benign	Het
Gpr146	A	G	5: 139,393,422	I326M	probably benign	Het
Grk2	G	A	19: 4,287,409	R617C	possibly damaging	Het
Gsn	A	G	2: 35,306,586	K669R	probably benign	Het
H2-T10	A	T	17: 36,119,374	I225N	possibly damaging	Het
Il12rb2	T	C	6: 67,309,143	H106R	probably benign	Het
Kat14	A	G	2: 144,373,718	E41G	probably damaging	Het
Kcnma1	G	T	14: 23,311,724	T1006K	probably damaging	Het
Kif18b	G	A	11: 102,914,699	T244I	probably damaging	Het
Klb	A	T	5: 65,348,995	H195L	probably damaging	Het
Lrriq4	T	C	3: 30,650,578	F252L	probably benign	Het
Lum	C	T	10: 97,568,390	T49I	possibly damaging	Het
Map3k4	T	A	17: 12,256,794	L84*	probably null	Het
Mindy2	A	G	9: 70,607,456		probably null	Het
Mpped2	G	T	2: 106,783,732	R137L	possibly damaging	Het
Myo18b	G	A	5: 112,757,559	R2058W	probably damaging	Het
Nol8	T	A	13: 49,655,227	L65Q	probably damaging	Het
Olfr1009	A	G	2: 85,721,573	H56R	probably damaging	Het
Olfr1269	A	T	2: 90,118,858	L247M	probably damaging	Het
Olfr1458	G	A	19: 13,103,016	A96V	possibly damaging	Het
Olfr147	T	G	9: 38,403,305	C144G	possibly damaging	Het
Olfr460	C	T	6: 40,571,899	S171L	probably benign	Het
Olfr743	T	C	14: 50,533,702	S97P	possibly damaging	Het
Parp12	G	T	6: 39,102,561	D338E	probably benign	Het
Pde6d	T	C	1: 86,546,692	E77G	probably damaging	Het
Phkg1	A	C	5: 129,873,214		probably null	Het
Pigw	A	C	11: 84,878,360	S48A	probably benign	Het
Pkm	T	A	9: 59,668,910		probably null	Het
Ppp1r3f	G	A	X: 7,560,363	T553M	probably damaging	Het
Retreg2	T	A	1: 75,143,459	F44L	possibly damaging	Het
Ryr2	A	T	13: 11,738,149	M1762K	probably benign	Het
Sec16a	A	G	2: 26,423,567	V1927A	probably benign	Het
Sec23a	G	T	12: 58,978,559	A492E	probably damaging	Het
Skint4	T	A	4: 112,118,114	H82Q	probably benign	Het
Srbd1	T	C	17: 86,139,152	K60E	probably benign	Het
Stk24	A	G	14: 121,308,044	Y101H	probably damaging	Het
Sult1e1	A	T	5: 87,578,537	N239K	probably damaging	Het
Tgs1	C	T	4: 3,604,848	P757S	probably damaging	Het
Tmc2	A	T	2: 130,248,730	E665D	probably damaging	Het
Tmprss15	C	A	16: 79,078,958	D163Y	probably benign	Het
Unc13a	C	A	8: 71,648,981	V1009L	possibly damaging	Het
Unc45b	G	T	11: 82,928,670	G490C	probably damaging	Het
Vmn1r177	T	A	7: 23,866,340	H37L	probably damaging	Het
Vwa5a	A	G	9: 38,733,968	M450V	possibly damaging	Het
Wars2	T	C	3: 99,187,527	I46T	probably benign	Het
Wdfy3	G	T	5: 101,851,310	T3098K	possibly damaging	Het
Zan	A	T	5: 137,389,360	I4863N	unknown	Het
Zfp616	A	G	11: 74,083,238		probably null	Het
Zfp770	A	T	2: 114,197,033	I185N	probably damaging	Het
Zfp808	T	G	13: 62,173,007	H683Q	probably damaging	Het
Zmym4	A	T	4: 126,882,482	W1221R	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
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
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'- ACACCGCTTTGTCGCTTTACCAT -3'
(R):5'- TTGGCATTGTCTAAAGCTGACACCTT -3'

Sequencing Primer
(F):5'- CATGGCATGTAAATGGCAGG -3'
(R):5'- tcactgctctttcagaggac -3'

Posted On

2014-03-14