Mutagenetix > Incidental Mutation

Incidental Mutation 'R8832:Aldh4a1'

673895

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

MMRRC Submission

068660-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.098) question?

Stock #

R8832 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

139350177-139377001 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 139371466 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 460 (D460G)

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 benign
Transcript: ENSMUST00000039818
AA Change: D460G

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000043821
Gene: ENSMUSG00000028737
AA Change: D460G

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

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.5%
20x: 98.5%

Validation Efficiency

99% (81/82)

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: 83 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
9330159F19Rik	A	T	10: 29,100,341 (GRCm39)	E238V	probably damaging	Het
Adh6b	T	C	3: 138,055,463 (GRCm39)	V71A	probably benign	Het
Agmat	G	A	4: 141,474,320 (GRCm39)	R67H	probably benign	Het
AI182371	T	C	2: 34,985,909 (GRCm39)	D49G	unknown	Het
Ak7	A	G	12: 105,708,598 (GRCm39)	N351S	possibly damaging	Het
Aldh3b1	G	T	19: 3,964,025 (GRCm39)	R426S	probably damaging	Het
Aox4	A	T	1: 58,294,649 (GRCm39)	M953L	probably benign	Het
Arhgap32	C	T	9: 32,172,115 (GRCm39)	P1632S	possibly damaging	Het
Armh1	A	G	4: 117,094,867 (GRCm39)	F58L	probably damaging	Het
Baz1b	C	T	5: 135,246,230 (GRCm39)	R560W	possibly damaging	Het
Bbs10	C	T	10: 111,136,266 (GRCm39)	Q460*	probably null	Het
BC034090	A	C	1: 155,102,034 (GRCm39)	S77A	probably damaging	Het
Bltp2	A	G	11: 78,158,064 (GRCm39)	K409E	probably benign	Het
Brca2	A	G	5: 150,465,611 (GRCm39)	K1792E	possibly damaging	Het
Cadps2	A	T	6: 23,587,536 (GRCm39)	L318Q	possibly damaging	Het
Catsperg2	A	G	7: 29,397,269 (GRCm39)	V1078A	probably benign	Het
Ccno	A	G	13: 113,126,239 (GRCm39)	N236S	probably benign	Het
Chct1	A	G	11: 85,062,037 (GRCm39)	D12G	probably damaging	Het
Cobll1	A	T	2: 64,929,602 (GRCm39)	S575T	probably damaging	Het
Col6a4	A	G	9: 105,949,353 (GRCm39)	Y761H	probably benign	Het
Cyp2j9	G	T	4: 96,474,121 (GRCm39)	H106Q	probably benign	Het
Dennd2c	T	A	3: 103,059,720 (GRCm39)		probably null	Het
Drd5	G	A	5: 38,477,078 (GRCm39)	V24M	probably benign	Het
Dthd1	T	C	5: 62,971,608 (GRCm39)	S144P	probably benign	Het
Fcna	C	A	2: 25,516,145 (GRCm39)	R124L	possibly damaging	Het
Fmnl2	A	G	2: 52,944,584 (GRCm39)	S188G		Het
Ggt1	A	T	10: 75,410,173 (GRCm39)	H35L	possibly damaging	Het
Gphn	A	T	12: 78,459,174 (GRCm39)		silent	Het
Hic1	G	A	11: 75,057,728 (GRCm39)	A387V	possibly damaging	Het
Hycc2	A	T	1: 58,587,832 (GRCm39)	I127N	possibly damaging	Het
Igf1r	T	A	7: 67,875,769 (GRCm39)	F1244I	probably damaging	Het
Kcnk7	T	C	19: 5,754,736 (GRCm39)	V78A	probably damaging	Het
Kit	A	G	5: 75,799,791 (GRCm39)	N508D	probably benign	Het
Klk1b22	A	T	7: 43,764,277 (GRCm39)	E68D	probably benign	Het
Klra4	C	T	6: 130,021,019 (GRCm39)	D259N	probably benign	Het
Krtap2-4	A	T	11: 99,505,246 (GRCm39)	C122S	unknown	Het
Map3k1	T	G	13: 111,889,015 (GRCm39)	H1314P	possibly damaging	Het
Mast2	C	T	4: 116,168,875 (GRCm39)		probably null	Het
Mfsd2a	A	G	4: 122,843,102 (GRCm39)	V393A	probably benign	Het
Myh7b	T	A	2: 155,475,182 (GRCm39)	V1858E	probably benign	Het
Myo1c	G	A	11: 75,561,072 (GRCm39)	V793I	probably benign	Het
Myt1l	T	A	12: 29,970,351 (GRCm39)	N1145K	unknown	Het
Nckap1l	T	A	15: 103,387,242 (GRCm39)	S706T	probably benign	Het
Nos2	A	G	11: 78,846,290 (GRCm39)		probably null	Het
Odf2l	C	T	3: 144,833,820 (GRCm39)	S160L	probably benign	Het
Or10ag54	T	A	2: 87,099,743 (GRCm39)	M206K	probably benign	Het
Or2av9	T	C	11: 58,381,063 (GRCm39)	I173V	possibly damaging	Het
Or4p18	A	G	2: 88,233,137 (GRCm39)	I47T	probably damaging	Het
Or56b34	T	C	7: 104,937,435 (GRCm39)	L45P	possibly damaging	Het
Or8g53	T	C	9: 39,683,886 (GRCm39)	D70G	probably damaging	Het
Pclo	T	C	5: 14,838,464 (GRCm39)	W1424R		Het
Pde8a	A	G	7: 80,956,498 (GRCm39)	N299S	probably benign	Het
Pi4kb	C	T	3: 94,900,344 (GRCm39)	T326M	probably damaging	Het
Pip4k2c	A	T	10: 127,037,037 (GRCm39)	H177Q	probably damaging	Het
Pld1	T	A	3: 28,177,846 (GRCm39)	W686R		Het
Ppp1r3b	A	T	8: 35,851,419 (GRCm39)	D86V	probably damaging	Het
Ppp1r3g	C	T	13: 36,153,143 (GRCm39)	R188*	probably null	Het
Pramel48	G	T	5: 95,630,939 (GRCm39)	C272F	possibly damaging	Het
Ptbp1	A	G	10: 79,699,023 (GRCm39)	E527G	probably damaging	Het
Rasef	T	C	4: 73,698,558 (GRCm39)		probably benign	Het
Rce1	A	T	19: 4,675,532 (GRCm39)	C34S	unknown	Het
Rnf144a	T	C	12: 26,370,948 (GRCm39)		probably benign	Het
Rpl7	C	T	1: 16,173,485 (GRCm39)	R88H	possibly damaging	Het
Rubcnl	A	T	14: 75,269,359 (GRCm39)	T6S		Het
Samd9l	A	T	6: 3,374,990 (GRCm39)	V757D	probably damaging	Het
Sec22c	A	G	9: 121,514,638 (GRCm39)	V221A	probably benign	Het
Slc16a6	A	G	11: 109,345,932 (GRCm39)	Y444H	probably benign	Het
Slc6a15	A	T	10: 103,225,179 (GRCm39)	Y89F	probably damaging	Het
Smg1	A	G	7: 117,739,006 (GRCm39)	V3466A	probably benign	Het
Sobp	G	A	10: 43,036,824 (GRCm39)	T38I	probably damaging	Het
Sppl2b	TGTCACAGGT	TGT	10: 80,701,903 (GRCm39)		probably null	Het
Srsf5	T	A	12: 80,996,278 (GRCm39)	F151I	probably damaging	Het
Taf2	A	C	15: 54,928,001 (GRCm39)	L134R	possibly damaging	Het
Tbc1d1	A	G	5: 64,442,020 (GRCm39)		probably benign	Het
Thap1	C	T	8: 26,648,261 (GRCm39)		probably benign	Het
Tmc5	A	T	7: 118,222,332 (GRCm39)	M11L	probably benign	Het
Tnfaip8	ACACACTCTCTCTCTC	AC	18: 50,179,908 (GRCm39)		probably benign	Het
Tomm7	T	C	5: 24,049,047 (GRCm39)	K9E	possibly damaging	Het
Trem3	T	C	17: 48,556,865 (GRCm39)	V112A	probably benign	Het
Vmn1r178	G	A	7: 23,593,264 (GRCm39)	C104Y	probably damaging	Het
Zdhhc20	A	T	14: 58,080,721 (GRCm39)	S263T	possibly damaging	Het
Zdhhc20	A	G	14: 58,103,089 (GRCm39)	S87P	probably benign	Het
Zfp423	C	A	8: 88,507,827 (GRCm39)	C839F	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
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
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'- TAATGGTCAGGAAGCCAGACAC -3'
(R):5'- CAGCAGTCTGCCTTTAGGTG -3'

Sequencing Primer
(F):5'- TCAGGAAGCCAGACACAGAGAC -3'
(R):5'- CCTTTAGGTGTAAGCTGAAAGGACTG -3'

Posted On

2021-07-15