Mutagenetix > Incidental Mutation

Incidental Mutation 'R7978:Aasdh'

651021

Institutional Source

Beutler Lab

Gene Symbol

Aasdh

Ensembl Gene

ENSMUSG00000055923

Gene Name

aminoadipate-semialdehyde dehydrogenase

Synonyms

A230062G08Rik

Accession Numbers

Genbank: NM_173765.3; Ensembl: ENSMUST00000120963

Essential gene?

Probably non essential (E-score: 0.126) question?

Stock #

R7978 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

76873659-76905514 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 76888668 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Asparagine at position 342 (I342N)

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: I342N

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

SMART Domains

Protein: ENSMUSP00000069279
Gene: ENSMUSG00000055923
AA Change: I342N

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: I342N

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

SMART Domains

Protein: ENSMUSP00000113792
Gene: ENSMUSG00000055923
AA Change: I342N

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: I342N

PolyPhen 2 Score 0.975 (Sensitivity: 0.76; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000118854
Gene: ENSMUSG00000055923
AA Change: I342N

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000146570
AA Change: I342N

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

SMART Domains

Protein: ENSMUSP00000117639
Gene: ENSMUSG00000055923
AA Change: I342N

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: 99.9%
10x: 99.7%
20x: 98.9%

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: 54 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Alb	A	T	5: 90,472,073	N453I	possibly damaging	Het
Aox4	C	A	1: 58,235,207	S384Y	probably damaging	Het
Ap1g1	C	T	8: 109,837,767	R315*	probably null	Het
Cachd1	T	C	4: 100,974,863	Y741H	probably damaging	Het
Cacna2d2	C	G	9: 107,518,257	L661V	probably benign	Het
Ccdc90b	T	A	7: 92,567,713	H64Q	probably damaging	Het
Ccdc93	C	A	1: 121,499,231	N582K	possibly damaging	Het
Cdh7	A	G	1: 109,994,105		probably benign	Het
Cnksr1	T	C	4: 134,236,031	N78D	probably damaging	Het
Cttnbp2nl	A	G	3: 105,007,991	V132A	probably damaging	Het
Cwc25	G	A	11: 97,753,218	Q230*	probably null	Het
Dsel	G	A	1: 111,859,719	R1029*	probably null	Het
Dspp	TGACAGCAGTGACAGCAGCGACAGCAGCGACAGCAGTGACAGCAGCGACAGCAGCGACAGCAGTGACAGCAGCGACAGCAGCAACAGCAGTGACAGCAG	TGACAGCAGTGACAGCAGCGACAGCAGCGACAGCAGTGACAGCAGCGACAGCAGCAACAGCAGTGACAGCAG	5: 104,178,361		probably benign	Het
Fam120a	T	C	13: 48,902,274	Y646C	probably damaging	Het
Hltf	T	C	3: 20,092,804	W576R	probably damaging	Het
Hmcn2	A	G	2: 31,389,347	N1787S	probably benign	Het
Ift122	A	G	6: 115,920,352	E904G	probably benign	Het
Igkv17-121	C	T	6: 68,036,822	T2I	unknown	Het
Ino80	T	G	2: 119,439,393	R590S	possibly damaging	Het
Intu	T	A	3: 40,697,639	I842N	probably damaging	Het
Itgae	A	T	11: 73,134,087	T1015S	probably damaging	Het
Kank1	GCGAACG	GCG	19: 25,411,205		probably null	Het
Kcna10	A	G	3: 107,194,347	E98G	probably damaging	Het
Kcnb2	T	A	1: 15,710,613	Y570N	probably benign	Het
Kmt2c	T	C	5: 25,359,678	I923V	probably benign	Het
Kptn	A	G	7: 16,125,772	D307G	probably damaging	Het
Myo3b	T	C	2: 70,253,114	Y704H	probably damaging	Het
Olfr103	A	G	17: 37,336,501	F244L	probably benign	Het
Olfr1186	T	A	2: 88,525,670	L29*	probably null	Het
Olfr1312	T	C	2: 112,042,178	T285A	possibly damaging	Het
Olfr48	A	T	2: 89,844,267	C235*	probably null	Het
Pmel	G	A	10: 128,715,950	V218M	probably damaging	Het
Prkar2b	T	C	12: 31,963,025	H364R	possibly damaging	Het
Psd4	T	C	2: 24,404,855	F809S	probably damaging	Het
Rabgap1l	A	G	1: 160,251,268	S59P		Het
Rgr	A	G	14: 37,044,688	F134L	probably benign	Het
Rspry1	G	T	8: 94,623,125	R47L	probably damaging	Het
Scd3	G	T	19: 44,234,249	E113*	probably null	Het
Slc22a12	G	A	19: 6,536,908	A476V	possibly damaging	Het
Smg1	T	C	7: 118,193,655	E560G	unknown	Het
Snx3	A	G	10: 42,502,350	D7G	probably benign	Het
Son	AGAACCCCCAGCCGCAGGAGCCGAACCCCCAGCCGCAGGAGCCGAACCCCCAGCCGCAGGAGCCGAACCCCCAGCCG	AGAACCCCCAGCCGCAGGAGCCGAACCCCCAGCCGCAGGAGCCGAACCCCCAGCCG	16: 91,660,334		probably benign	Het
Tbc1d12	A	G	19: 38,916,841	M667V	probably benign	Het
Tbc1d30	A	T	10: 121,306,199	V81E	probably damaging	Het
Tbc1d9	A	T	8: 83,239,954	I395F	probably damaging	Het
Tes	C	A	6: 17,096,323	N103K	probably benign	Het
Tet2	T	C	3: 133,487,665	Y336C	possibly damaging	Het
Tgfbr3	T	C	5: 107,139,860	N491S	probably damaging	Het
Tomt	T	C	7: 101,900,347	I245V	probably damaging	Het
Trbc1	T	C	6: 41,538,302	L28P		Het
Trp63	T	C	16: 25,820,686	V208A	unknown	Het
Ttll8	G	T	15: 88,915,362	N625K	probably benign	Het
Ush2a	T	A	1: 188,399,938	W786R	probably benign	Het
Vmn2r97	A	T	17: 18,947,592	I703F	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
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
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'- GGCAAGAGTGTGCTTCCTAC -3'
(R):5'- CAACGCCAACATTGCTGAG -3'

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

Posted On

2020-09-15