Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01732:Aldh4a1'

105517

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Aldh4a1

Ensembl Gene

ENSMUSG00000028737

Gene Name

aldehyde dehydrogenase 4 family, member A1

Synonyms

P5CDH, Ahd-1, A930035F14Rik, ALDH4, Ssdh1, Ahd1

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.094) question?

Stock #

IGL01732

Quality Score

Status

Chromosome

Chromosomal Location

139350177-139377001 bp(+) (GRCm39)

Type of Mutation

nonsense

DNA Base Change (assembly)

G to T at 139369471 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Stop codon at position 341 (E341*)

Ref Sequence

ENSEMBL: ENSMUSP00000043821 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000039818] [ENSMUST00000178644]

AlphaFold

Q8CHT0

PDB Structure

Crystal structure of mouse 1-pyrroline-5-carboxylate dehydrogenase complexed with sulfate ion [X-RAY DIFFRACTION]
Crystal structure of mouse 1-pyrroline-5-carboxylate dehydrogenase complexed with the product glutamate [X-RAY DIFFRACTION]
Crystal structure of mouse 1-pyrroline-5-carboxylate dehydrogenase complexed with NAD+ [X-RAY DIFFRACTION]
Crystal Structure of Mus musculus 1-pyrroline-5-carboxylate dehydrogenase cryoprotected in proline [X-RAY DIFFRACTION]
Structure of mouse 1-Pyrroline-5-Carboxylate Dehydrogenase (ALDH4A1) complexed with acetate [X-RAY DIFFRACTION]
Structure of mouse 1-Pyrroline-5-Carboxylate Dehydrogenase (ALDH4A1) complexed with glyoxylate [X-RAY DIFFRACTION]
Structure of mouse 1-Pyrroline-5-Carboxylate Dehydrogenase (ALDH4A1) complexed with malonate [X-RAY DIFFRACTION]
Structure of mouse 1-Pyrroline-5-Carboxylate Dehydrogenase (ALDH4A1) complexed with succinate [X-RAY DIFFRACTION]
Structure of mouse 1-Pyrroline-5-Carboxylate Dehydrogenase (ALDH4A1) complexed with glutarate [X-RAY DIFFRACTION]

Predicted Effect

probably null
Transcript: ENSMUST00000039818
AA Change: E341*

SMART Domains

Protein: ENSMUSP00000043821
Gene: ENSMUSG00000028737
AA Change: E341*

Domain	Start	End	E-Value	Type
low complexity region	2	13	N/A	INTRINSIC
Pfam:Aldedh	73	546	7.6e-104	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000146309

Predicted Effect

probably benign
Transcript: ENSMUST00000178644

SMART Domains

Protein: ENSMUSP00000136776
Gene: ENSMUSG00000094439

Domain	Start	End	E-Value	Type
SCOP:d1lbva_	1	60	5e-3	SMART
Pfam:Filament	165	253	7.3e-13	PFAM
low complexity region	255	268	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000183787

Coding Region Coverage

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This protein belongs to the aldehyde dehydrogenase family of proteins. This enzyme is a mitochondrial matrix NAD-dependent dehydrogenase which catalyzes the second step of the proline degradation pathway, converting pyrroline-5-carboxylate to glutamate. Deficiency of this enzyme is associated with type II hyperprolinemia, an autosomal recessive disorder characterized by accumulation of delta-1-pyrroline-5-carboxylate (P5C) and proline. Alternatively spliced transcript variants encoding different isoforms have been identified for this gene. [provided by RefSeq, Jun 2009]

Allele List at MGI

Other mutations in this stock

Total: 46 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Alpk3	A	G	7: 80,707,390 (GRCm39)	R5G	unknown	Het
Arhgef10l	C	T	4: 140,307,726 (GRCm39)	V113M	probably damaging	Het
Brca2	T	A	5: 150,465,852 (GRCm39)	I1872K	probably benign	Het
Cdk17	C	A	10: 93,053,907 (GRCm39)	P134T	probably benign	Het
Cerk	A	G	15: 86,030,517 (GRCm39)	S35P	possibly damaging	Het
Cfap126	T	C	1: 170,954,305 (GRCm39)	V174A	possibly damaging	Het
Cfhr1	T	C	1: 139,478,606 (GRCm39)	T255A	probably benign	Het
Clcn1	A	G	6: 42,287,606 (GRCm39)		probably benign	Het
Copz1	A	G	15: 103,206,318 (GRCm39)	E151G	probably benign	Het
Cubn	G	A	2: 13,494,747 (GRCm39)	Q101*	probably null	Het
Eri1	T	C	8: 35,958,397 (GRCm39)	E12G	possibly damaging	Het
Fut9	A	G	4: 25,619,867 (GRCm39)	F316L	possibly damaging	Het
Garin1a	A	T	6: 29,285,979 (GRCm39)	H146L	probably damaging	Het
Gm973	A	G	1: 59,669,396 (GRCm39)	I816V	probably benign	Het
Itln1	A	G	1: 171,362,348 (GRCm39)	M11T	probably benign	Het
Klc2	C	T	19: 5,159,825 (GRCm39)	R458Q	probably damaging	Het
Lrrc8b	A	T	5: 105,633,826 (GRCm39)	E766V	probably damaging	Het
Mmadhc	A	T	2: 50,171,197 (GRCm39)	I205N	probably damaging	Het
Myo10	A	G	15: 25,732,149 (GRCm39)	I342V	probably benign	Het
Ncapg	T	A	5: 45,851,195 (GRCm39)	V796D	probably damaging	Het
Olfm3	A	C	3: 114,890,649 (GRCm39)	D134A	possibly damaging	Het
Or3a1c	T	C	11: 74,046,279 (GRCm39)	C100R	probably damaging	Het
Or51t4	T	A	7: 102,598,446 (GRCm39)	I248N	probably damaging	Het
Or56b2	T	C	7: 104,337,543 (GRCm39)	M107T	possibly damaging	Het
Phldb3	A	G	7: 24,326,751 (GRCm39)	E593G	probably damaging	Het
Plcg1	T	A	2: 160,589,699 (GRCm39)	D74E	probably damaging	Het
Plekhm3	T	C	1: 64,961,407 (GRCm39)	D283G	probably benign	Het
Pnpla6	C	A	8: 3,572,616 (GRCm39)	T279N	probably damaging	Het
Prkcq	G	A	2: 11,265,644 (GRCm39)		probably benign	Het
Rbm11	G	A	16: 75,397,510 (GRCm39)	A147T	probably benign	Het
Rnf103	A	G	6: 71,487,366 (GRCm39)	K666E	probably damaging	Het
Selenos	A	G	7: 65,730,137 (GRCm39)	Y45C	probably damaging	Het
Septin11	A	G	5: 93,309,085 (GRCm39)	Y255C	probably damaging	Het
Serpinb3c	T	C	1: 107,199,702 (GRCm39)	H273R	probably benign	Het
Slc35f2	A	G	9: 53,713,909 (GRCm39)	D141G	probably damaging	Het
Sntg2	A	T	12: 30,362,648 (GRCm39)	Y33N	probably damaging	Het
Snx19	C	A	9: 30,373,649 (GRCm39)	T904K	probably damaging	Het
Tenm4	A	G	7: 96,544,716 (GRCm39)	Y2244C	probably damaging	Het
Tescl	A	G	7: 24,032,872 (GRCm39)	V151A	probably damaging	Het
Tnrc18	C	T	5: 142,757,816 (GRCm39)	V902M	unknown	Het
Trmt13	A	G	3: 116,375,113 (GRCm39)	L465S	probably damaging	Het
Ube2j2	T	G	4: 156,041,788 (GRCm39)	V249G	probably damaging	Het
Zan	T	C	5: 137,391,273 (GRCm39)	K4737R	unknown	Het
Zc3h6	T	C	2: 128,853,795 (GRCm39)	I430T	probably damaging	Het
Zfp750	G	A	11: 121,403,819 (GRCm39)	S352L	probably benign	Het
Zfp819	A	G	7: 43,265,846 (GRCm39)	K34E	probably benign	Het

Other mutations in Aldh4a1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01916:Aldh4a1	APN	4	139,371,457 (GRCm39)	missense	probably damaging	1.00
IGL02368:Aldh4a1	APN	4	139,375,511 (GRCm39)	nonsense	probably null
IGL02469:Aldh4a1	APN	4	139,375,472 (GRCm39)	missense	probably damaging	0.98
PIT4402001:Aldh4a1	UTSW	4	139,369,502 (GRCm39)	nonsense	probably null
R0511:Aldh4a1	UTSW	4	139,369,882 (GRCm39)	splice site	probably benign
R1352:Aldh4a1	UTSW	4	139,362,830 (GRCm39)	missense	probably benign	0.18
R1484:Aldh4a1	UTSW	4	139,370,758 (GRCm39)	missense	probably benign	0.00
R1717:Aldh4a1	UTSW	4	139,361,305 (GRCm39)	splice site	probably null
R1717:Aldh4a1	UTSW	4	139,365,840 (GRCm39)	missense	possibly damaging	0.93
R1729:Aldh4a1	UTSW	4	139,371,472 (GRCm39)	missense	probably damaging	1.00
R1784:Aldh4a1	UTSW	4	139,371,472 (GRCm39)	missense	probably damaging	1.00
R1785:Aldh4a1	UTSW	4	139,371,439 (GRCm39)	missense	probably benign	0.01
R1786:Aldh4a1	UTSW	4	139,371,439 (GRCm39)	missense	probably benign	0.01
R3696:Aldh4a1	UTSW	4	139,369,562 (GRCm39)	missense	possibly damaging	0.68
R3697:Aldh4a1	UTSW	4	139,369,562 (GRCm39)	missense	possibly damaging	0.68
R3698:Aldh4a1	UTSW	4	139,369,562 (GRCm39)	missense	possibly damaging	0.68
R4603:Aldh4a1	UTSW	4	139,370,740 (GRCm39)	missense	probably damaging	0.97
R5197:Aldh4a1	UTSW	4	139,375,612 (GRCm39)	intron	probably benign
R5375:Aldh4a1	UTSW	4	139,361,233 (GRCm39)	missense	probably benign
R5539:Aldh4a1	UTSW	4	139,365,833 (GRCm39)	missense	probably benign	0.05
R5590:Aldh4a1	UTSW	4	139,369,415 (GRCm39)	missense	probably damaging	1.00
R6101:Aldh4a1	UTSW	4	139,365,806 (GRCm39)	missense	possibly damaging	0.91
R6105:Aldh4a1	UTSW	4	139,365,806 (GRCm39)	missense	possibly damaging	0.91
R7600:Aldh4a1	UTSW	4	139,372,315 (GRCm39)	missense	probably benign
R7666:Aldh4a1	UTSW	4	139,361,268 (GRCm39)	missense	probably damaging	0.99
R8356:Aldh4a1	UTSW	4	139,365,833 (GRCm39)	missense	probably benign	0.05
R8832:Aldh4a1	UTSW	4	139,371,466 (GRCm39)	missense	probably benign
R9047:Aldh4a1	UTSW	4	139,350,511 (GRCm39)	splice site	probably benign
R9407:Aldh4a1	UTSW	4	139,372,345 (GRCm39)	missense	probably benign	0.01
R9638:Aldh4a1	UTSW	4	139,371,427 (GRCm39)	missense	probably damaging	1.00

Posted On

2014-01-21