Mutagenetix > Incidental Mutation

Incidental Mutation 'R8356:Aldh4a1'

660322

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

067870-MU

Accession Numbers

Essential gene?

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

Stock #

R8356 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

139350177-139377001 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 139365833 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 275 (S275P)

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: S275P

PolyPhen 2 Score 0.052 (Sensitivity: 0.94; Specificity: 0.83)

SMART Domains

Protein: ENSMUSP00000043821
Gene: ENSMUSG00000028737
AA Change: S275P

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: ENSMUST00000124987

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

Meta Mutation Damage Score

0.3132

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.1%

Validation Efficiency

100% (58/58)

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: 61 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700069L16Rik	T	A	5: 113,861,868 (GRCm39)	M1L	unknown	Het
Abcc9	A	T	6: 142,536,096 (GRCm39)	M1546K	probably benign	Het
Acbd3	T	C	1: 180,553,881 (GRCm39)	M72T	probably benign	Het
Adam6a	T	G	12: 113,509,757 (GRCm39)	L710R	probably benign	Het
Ap3d1	A	T	10: 80,568,737 (GRCm39)	L47Q	probably damaging	Het
Arhgap19	G	A	19: 41,762,615 (GRCm39)	R414C	probably damaging	Het
Ascc3	T	C	10: 50,526,003 (GRCm39)	S572P	probably benign	Het
Cdk10	G	A	8: 123,955,096 (GRCm39)	R78H	probably benign	Het
Celsr2	C	T	3: 108,320,847 (GRCm39)	R655H	possibly damaging	Het
Cntnap2	T	A	6: 47,026,307 (GRCm39)	H44Q	probably benign	Het
Cpped1	A	T	16: 11,712,793 (GRCm39)	C32*	probably null	Het
Ddi1	A	G	9: 6,266,249 (GRCm39)	V40A	probably benign	Het
Ddx50	T	C	10: 62,457,287 (GRCm39)	T588A	probably benign	Het
Degs2	A	G	12: 108,658,223 (GRCm39)	I252T	possibly damaging	Het
Dnah1	C	T	14: 30,994,972 (GRCm39)	V2762I	probably benign	Het
Dnah5	A	G	15: 28,444,313 (GRCm39)	D4037G	probably benign	Het
Dnah5	C	T	15: 28,444,469 (GRCm39)	A4089V	probably null	Het
Dthd1	A	T	5: 63,007,081 (GRCm39)	D594V	probably damaging	Het
Ehmt1	A	T	2: 24,742,781 (GRCm39)	M466K	probably benign	Het
Erich2	A	T	2: 70,357,873 (GRCm39)		probably null	Het
Fam221b	T	C	4: 43,665,519 (GRCm39)	D313G	probably benign	Het
Fbxl22	T	C	9: 66,421,732 (GRCm39)	D35G	possibly damaging	Het
Ggcx	A	G	6: 72,406,574 (GRCm39)	E679G	probably benign	Het
Gm14295	A	G	2: 176,501,307 (GRCm39)	T266A	probably benign	Het
Hnrnpa1	A	G	15: 103,150,529 (GRCm39)	D160G	probably null	Het
Hnrnpul1	T	C	7: 25,422,247 (GRCm39)		probably benign	Het
Hydin	A	G	8: 111,259,756 (GRCm39)	E2576G	possibly damaging	Het
Ifit2	T	A	19: 34,550,908 (GRCm39)	C149*	probably null	Het
Il18rap	T	A	1: 40,564,084 (GRCm39)	S67R	probably benign	Het
Kcnk4	T	G	19: 6,903,668 (GRCm39)	S294R	probably benign	Het
Kif21b	A	G	1: 136,100,683 (GRCm39)	H1588R	probably damaging	Het
Klhl35	A	T	7: 99,122,129 (GRCm39)	S77C	probably damaging	Het
Lats2	A	T	14: 57,934,867 (GRCm39)	M228K	probably damaging	Het
Lrfn4	T	C	19: 4,662,256 (GRCm39)	D587G	probably benign	Het
Lrrd1	C	A	5: 3,916,509 (GRCm39)	T842K	probably benign	Het
Mafb	G	A	2: 160,208,125 (GRCm39)	H158Y	probably benign	Het
Mapk8ip3	T	A	17: 25,123,925 (GRCm39)	E561D	probably damaging	Het
Mcemp1	A	G	8: 3,717,542 (GRCm39)	T158A	probably damaging	Het
Mst1r	A	T	9: 107,794,463 (GRCm39)	E1214V	probably damaging	Het
Muc16	A	G	9: 18,570,074 (GRCm39)	I815T	unknown	Het
Ncoa6	T	A	2: 155,248,172 (GRCm39)	I1711L	possibly damaging	Het
Neo1	G	A	9: 58,785,402 (GRCm39)	T1408M	probably damaging	Het
Niban1	T	A	1: 151,571,901 (GRCm39)	V282D	probably damaging	Het
Nnt	A	C	13: 119,476,368 (GRCm39)	F632C	probably damaging	Het
Nup210	G	A	6: 91,051,330 (GRCm39)	T351I	probably benign	Het
Or4f59	A	G	2: 111,872,943 (GRCm39)	S145P	probably damaging	Het
Or52e18	A	G	7: 104,609,934 (GRCm39)	S2P	probably benign	Het
P4ha1	C	T	10: 59,191,185 (GRCm39)	T364I	probably damaging	Het
Pcdhb11	T	A	18: 37,555,252 (GRCm39)	L194Q	probably damaging	Het
Pramel52-ps	A	G	5: 94,531,703 (GRCm39)	K196E	probably damaging	Het
Rad51ap1	A	G	6: 126,901,879 (GRCm39)		probably null	Het
Rbm11	G	A	16: 75,397,694 (GRCm39)	R208K	probably benign	Het
Rps6ka1	T	A	4: 133,587,368 (GRCm39)	Q535L	possibly damaging	Het
Slc26a3	A	G	12: 31,516,505 (GRCm39)	D621G	probably benign	Het
Sox10	T	G	15: 79,040,652 (GRCm39)	E296A	probably damaging	Het
St3gal4	A	C	9: 34,964,438 (GRCm39)	V188G	probably damaging	Het
Trim34a	A	T	7: 103,910,178 (GRCm39)	I327F	probably damaging	Het
Ttc28	G	A	5: 111,381,207 (GRCm39)	D1240N	probably benign	Het
Zc2hc1c	A	G	12: 85,337,471 (GRCm39)	E376G	probably damaging	Het
Zfp423	G	A	8: 88,509,910 (GRCm39)	P77S	probably damaging	Het
Zfp560	A	T	9: 20,260,231 (GRCm39)	S210R	probably benign	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
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'- ATGGTTGGTCTTTCGCCAC -3'
(R):5'- TTCACCAAGATAGGGACCCC -3'

Sequencing Primer
(F):5'- ACCTTGTGAATCATGTTTGACACC -3'
(R):5'- ACTCTCATTCGGCACAGTGG -3'

Posted On

2021-01-18