Mutagenetix > Incidental Mutation

Incidental Mutation 'R4603:Aldh4a1'

345768

Institutional Source

Beutler Lab

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 #

R4603 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

139350177-139377001 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 139370740 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 408 (S408P)

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 damaging
Transcript: ENSMUST00000039818
AA Change: S408P

PolyPhen 2 Score 0.974 (Sensitivity: 0.76; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000043821
Gene: ENSMUSG00000028737
AA Change: S408P

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

1x: 99.3%
3x: 98.6%
10x: 97.2%
20x: 94.9%

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: 74 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1810024B03Rik	A	G	2: 127,029,019 (GRCm39)	V60A	probably damaging	Het
AAdacl4fm3	A	G	4: 144,429,798 (GRCm39)	V397A	probably benign	Het
Afg3l1	A	G	8: 124,228,674 (GRCm39)	T747A	probably benign	Het
Ank2	T	C	3: 126,825,665 (GRCm39)	T445A	probably benign	Het
Antxrl	A	G	14: 33,797,792 (GRCm39)	E589G	possibly damaging	Het
Arhgef12	C	T	9: 42,921,489 (GRCm39)	G329R	probably benign	Het
Arsi	G	A	18: 61,049,723 (GRCm39)	G202E	probably benign	Het
AY358078	T	A	14: 52,063,532 (GRCm39)	C393S	possibly damaging	Het
Bpnt2	T	C	4: 4,767,878 (GRCm39)	I299M	probably damaging	Het
Brca2	T	A	5: 150,459,630 (GRCm39)	C302S	possibly damaging	Het
Ccdc169	T	A	3: 55,058,226 (GRCm39)	M4K	probably benign	Het
Ccdc66	T	C	14: 27,222,377 (GRCm39)	N122S	probably damaging	Het
Cd226	T	C	18: 89,225,343 (GRCm39)	V80A	probably damaging	Het
Cdc73	T	C	1: 143,553,595 (GRCm39)		probably null	Het
Cfap96	A	T	8: 46,423,505 (GRCm39)	I69N	probably damaging	Het
Cse1l	T	C	2: 166,786,452 (GRCm39)	V604A	probably benign	Het
Cxcr1	G	C	1: 74,231,896 (GRCm39)	T42S	probably benign	Het
Dhx9	TCC	TC	1: 153,342,797 (GRCm39)		probably null	Het
Ercc3	G	A	18: 32,378,624 (GRCm39)	A202T	probably benign	Het
Erp27	A	G	6: 136,896,947 (GRCm39)	V85A	probably damaging	Het
Fam3d	T	A	14: 8,358,429 (GRCm38)	S57C	probably damaging	Het
Fgf8	T	G	19: 45,726,592 (GRCm39)	I137L	probably benign	Het
Fgfrl1	T	A	5: 108,851,401 (GRCm39)	V106D	probably damaging	Het
Gaa	T	C	11: 119,169,784 (GRCm39)	W613R	probably damaging	Het
Gabarap	A	G	11: 69,885,287 (GRCm39)	N66S	probably benign	Het
Gp1bb	A	T	16: 18,439,893 (GRCm39)	L67Q	probably damaging	Het
Gpn1	T	C	5: 31,654,696 (GRCm39)		probably null	Het
Gstt1	T	C	10: 75,629,969 (GRCm39)	Y48C	probably damaging	Het
Iqcg	C	T	16: 32,861,134 (GRCm39)	R194K	probably null	Het
Iqcg	C	G	16: 32,861,133 (GRCm39)		probably null	Het
Kcnj3	C	T	2: 55,336,991 (GRCm39)	R286*	probably null	Het
Klhl38	T	A	15: 58,186,616 (GRCm39)	I38F	possibly damaging	Het
Kmo	C	A	1: 175,479,208 (GRCm39)	P248Q	probably benign	Het
Mbtps1	A	T	8: 120,262,086 (GRCm39)	D354E	probably damaging	Het
Mcpt9	C	T	14: 56,266,049 (GRCm39)	V60M	probably damaging	Het
Mical3	C	A	6: 120,911,799 (GRCm39)	E1083*	probably null	Het
Mprip	T	C	11: 59,622,399 (GRCm39)	V162A	probably damaging	Het
Mrc2	G	A	11: 105,239,257 (GRCm39)		probably null	Het
Myocd	T	C	11: 65,078,571 (GRCm39)	D408G	possibly damaging	Het
Myt1l	A	G	12: 29,892,539 (GRCm39)	T59A	probably benign	Het
Ndufb7	A	G	8: 84,293,494 (GRCm39)	E16G	probably damaging	Het
Ndufs7	T	A	10: 80,092,501 (GRCm39)	Y203*	probably null	Het
Nploc4	C	T	11: 120,276,613 (GRCm39)	V478I	probably benign	Het
Nrap	A	G	19: 56,323,456 (GRCm39)		probably null	Het
Or5e1	A	T	7: 108,354,834 (GRCm39)	Y257F	probably damaging	Het
Or6c207	G	A	10: 129,104,274 (GRCm39)	A306V	probably benign	Het
Pald1	T	C	10: 61,184,395 (GRCm39)	T241A	probably benign	Het
Pdss2	T	C	10: 43,248,197 (GRCm39)	S234P	probably damaging	Het
Pias2	T	A	18: 77,217,803 (GRCm39)	V335E	probably damaging	Het
Ppip5k2	C	A	1: 97,682,861 (GRCm39)	K187N	probably damaging	Het
Ppp3cb	T	C	14: 20,570,714 (GRCm39)	N339S	possibly damaging	Het
Ppp4r1	T	G	17: 66,120,459 (GRCm39)	C181G	probably damaging	Het
Pramel27	T	A	4: 143,579,451 (GRCm39)	H345Q	probably benign	Het
Prkdc	G	A	16: 15,628,688 (GRCm39)	E3478K	probably damaging	Het
Prpf4b	T	C	13: 35,072,147 (GRCm39)		probably benign	Het
Psme3	T	A	11: 101,208,435 (GRCm39)		probably null	Het
Ptpre	C	A	7: 135,269,372 (GRCm39)	Y284*	probably null	Het
Scnn1a	A	G	6: 125,299,123 (GRCm39)	I94V	probably damaging	Het
Secisbp2l	C	T	2: 125,582,657 (GRCm39)	G933D	possibly damaging	Het
Shc2	T	C	10: 79,459,690 (GRCm39)	D418G	probably benign	Het
Sidt1	A	T	16: 44,075,389 (GRCm39)	D661E	probably damaging	Het
Slc35e2	T	C	4: 155,702,106 (GRCm39)	F290S	probably benign	Het
Sorcs1	A	G	19: 50,301,402 (GRCm39)		probably null	Het
Stox2	A	G	8: 47,645,970 (GRCm39)	S497P	probably damaging	Het
Tmem270	C	A	5: 134,930,482 (GRCm39)	E260*	probably null	Het
Tmtc2	T	C	10: 105,249,391 (GRCm39)	Y114C	probably benign	Het
Trim46	A	G	3: 89,150,958 (GRCm39)	F188S	probably benign	Het
Trim7	T	A	11: 48,728,355 (GRCm39)	M1K	probably null	Het
Txnip	A	G	3: 96,465,604 (GRCm39)	E18G	probably benign	Het
Usp34	A	G	11: 23,414,633 (GRCm39)	N2859D	probably damaging	Het
Vmn2r94	T	A	17: 18,477,647 (GRCm39)	I255F	probably benign	Het
Xkr5	T	A	8: 18,983,733 (GRCm39)	N603I	possibly damaging	Het
Zfp512	C	T	5: 31,637,570 (GRCm39)	A497V	probably benign	Het
Zfp518b	T	C	5: 38,830,970 (GRCm39)	N345S	probably damaging	Het

Other mutations in Aldh4a1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01732:Aldh4a1	APN	4	139,369,471 (GRCm39)	nonsense	probably null
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
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

Predicted Primers

PCR Primer
(F):5'- CTGTGTCCCTACCATGGCTTAG -3'
(R):5'- CTGTGAGCCATTTCTGTCAGC -3'

Sequencing Primer
(F):5'- AGCCAGGCTTTCAGTGTC -3'
(R):5'- TTTCTGTCAGCCATGAAACCAGG -3'

Posted On

2015-09-25