Mutagenetix > Incidental Mutation

Incidental Mutation 'R0882:Aasdh'

80627

Institutional Source

Beutler Lab

Gene Symbol

Aasdh

Ensembl Gene

ENSMUSG00000055923

Gene Name

aminoadipate-semialdehyde dehydrogenase

Synonyms

A230062G08Rik

MMRRC Submission

039049-MU

Accession Numbers

Genbank: NM_173765.3; Ensembl: ENSMUST00000120963

Is this an essential gene?

Probably non essential (E-score: 0.153) question?

Stock #

R0882 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

76873659-76905514 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 76876283 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Methionine at position 174 (T174M)

Ref Sequence

ENSEMBL: ENSMUSP00000117489 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000069709] [ENSMUST00000120639] [ENSMUST00000120963] [ENSMUST00000121160] [ENSMUST00000123682] [ENSMUST00000126741] [ENSMUST00000149602] [ENSMUST00000163347]

AlphaFold

Q80WC9

Predicted Effect

probably damaging
Transcript: ENSMUST00000069709
AA Change: T1015M

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000069279
Gene: ENSMUSG00000055923
AA Change: T1015M

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: ENSMUST00000120639

SMART Domains

Protein: ENSMUSP00000113796
Gene: ENSMUSG00000036377

Domain	Start	End	E-Value	Type
Pfam:DUF4592	44	173	1.7e-45	PFAM
low complexity region	210	220	N/A	INTRINSIC
coiled coil region	224	291	N/A	INTRINSIC
coiled coil region	328	482	N/A	INTRINSIC
low complexity region	533	547	N/A	INTRINSIC
low complexity region	580	593	N/A	INTRINSIC
low complexity region	875	888	N/A	INTRINSIC
internal_repeat_1	947	1025	1.47e-5	PROSPERO
low complexity region	1034	1047	N/A	INTRINSIC
internal_repeat_1	1065	1122	1.47e-5	PROSPERO
low complexity region	1268	1280	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000120963
AA Change: T1015M

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000113792
Gene: ENSMUSG00000055923
AA Change: T1015M

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: ENSMUST00000121160

SMART Domains

Protein: ENSMUSP00000113947
Gene: ENSMUSG00000036377

Domain	Start	End	E-Value	Type
Pfam:DUF4592	45	172	1.8e-41	PFAM
low complexity region	210	220	N/A	INTRINSIC
coiled coil region	224	291	N/A	INTRINSIC
coiled coil region	328	482	N/A	INTRINSIC
low complexity region	533	547	N/A	INTRINSIC
low complexity region	580	593	N/A	INTRINSIC
low complexity region	875	888	N/A	INTRINSIC
low complexity region	1034	1047	N/A	INTRINSIC
low complexity region	1271	1283	N/A	INTRINSIC

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

noncoding transcript
Transcript: ENSMUST00000145022

Predicted Effect

probably damaging
Transcript: ENSMUST00000149602
AA Change: T174M

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000117489
Gene: ENSMUSG00000055923
AA Change: T174M

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

Predicted Effect

probably benign
Transcript: ENSMUST00000163347

SMART Domains

Protein: ENSMUSP00000127212
Gene: ENSMUSG00000036377

Domain	Start	End	E-Value	Type
Pfam:DUF4592	44	173	1.7e-45	PFAM
low complexity region	210	220	N/A	INTRINSIC
coiled coil region	224	291	N/A	INTRINSIC
coiled coil region	328	482	N/A	INTRINSIC
low complexity region	533	547	N/A	INTRINSIC
low complexity region	580	593	N/A	INTRINSIC
low complexity region	875	888	N/A	INTRINSIC
internal_repeat_1	947	1025	1.47e-5	PROSPERO
low complexity region	1034	1047	N/A	INTRINSIC
internal_repeat_1	1065	1122	1.47e-5	PROSPERO
low complexity region	1268	1280	N/A	INTRINSIC

Meta Mutation Damage Score

0.6467

Coding Region Coverage

1x: 99.4%
3x: 99.0%
10x: 97.8%
20x: 96.0%

Validation Efficiency

100% (49/49)

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: 48 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adh1	A	T	3: 138,286,797	I225F	possibly damaging	Het
Agap2	A	G	10: 127,087,450	K691E	unknown	Het
Alcam	T	C	16: 52,253,210	D564G	possibly damaging	Het
Apbb2	T	A	5: 66,400,255	T289S	probably damaging	Het
BC005561	T	C	5: 104,519,009	S466P	probably benign	Het
Cacna1c	C	T	6: 118,612,625	R1446H	probably damaging	Het
Cep68	T	C	11: 20,239,393	I540V	probably benign	Het
Ctla4	T	C	1: 60,909,238	V23A	probably benign	Het
Dnah7b	T	A	1: 46,340,132	D3675E	probably benign	Het
Fam209	G	T	2: 172,472,635	V15F	probably benign	Het
Fat3	A	G	9: 16,031,368	V1236A	possibly damaging	Het
Gabbr2	A	G	4: 46,718,904	I38T	probably damaging	Het
Gdpd4	T	C	7: 97,966,298	I110T	probably damaging	Het
Gm4841	C	T	18: 60,269,780	A414T	possibly damaging	Het
Gtf3c4	A	T	2: 28,834,770	Y176N	probably damaging	Het
Hist2h2bb	G	A	3: 96,269,744		probably null	Het
Igsf9b	T	C	9: 27,319,316	Y264H	probably damaging	Het
Itih4	A	T	14: 30,892,274	N394Y	probably damaging	Het
Kmt2c	T	C	5: 25,295,607	T3815A	possibly damaging	Het
Lrwd1	T	C	5: 136,123,400		probably null	Het
Mc3r	A	G	2: 172,249,791	K311R	probably benign	Het
Myb	T	C	10: 21,156,360	T41A	possibly damaging	Het
Nfix	T	C	8: 84,727,925	D201G	probably damaging	Het
Nos1	T	C	5: 117,947,447	V1280A	probably damaging	Het
Olfr160	T	C	9: 37,711,872	M136V	probably benign	Het
Olfr586	A	C	7: 103,122,575	S66A	probably benign	Het
Pcdh15	A	G	10: 74,342,656	T582A	probably damaging	Het
Pcdhb12	C	A	18: 37,437,322	A507E	probably damaging	Het
Pdia3	G	A	2: 121,432,377	G275S	probably damaging	Het
Pkp2	C	A	16: 16,269,711	A753E	probably damaging	Het
Plekha3	G	A	2: 76,682,798	V76I	possibly damaging	Het
Pnpla6	T	C	8: 3,517,081	L33P	probably damaging	Het
Pot1b	C	T	17: 55,666,400		probably benign	Het
Prr5l	T	C	2: 101,758,541	E88G	possibly damaging	Het
Prss57	G	A	10: 79,785,865	H97Y	probably damaging	Het
Rttn	C	T	18: 88,973,689	Q131*	probably null	Het
Scaf11	G	T	15: 96,418,295	S1129R	possibly damaging	Het
Slc25a20	T	A	9: 108,681,990	M185K	possibly damaging	Het
Sorbs3	T	A	14: 70,207,572	E19V	probably damaging	Het
Srgap2	A	T	1: 131,289,515	C1020S	probably benign	Het
Tmem109	T	C	19: 10,871,841	R217G	possibly damaging	Het
Trio	A	T	15: 27,732,894	I2967N	probably damaging	Het
Vars2	T	C	17: 35,657,299	E899G	probably benign	Het
Vmn2r109	A	G	17: 20,554,580		probably benign	Het
Vps53	A	G	11: 76,082,659	F170L	probably damaging	Het
Zc2hc1a	G	A	3: 7,526,362	S149N	possibly damaging	Het
Zfp820	A	G	17: 21,823,836		probably benign	Het
Zhx3	A	C	2: 160,780,709	F513V	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
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
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'- AAGCATTGATTCCCAGACCACAGG -3'
(R):5'- TGAAGAGACCCCGTTGGACTCAAG -3'

Sequencing Primer
(F):5'- TTCCCAGACCACAGGAGAGG -3'
(R):5'- CCGTTGGACTCAAGAGTTGC -3'

Posted On

2013-11-07