Mutagenetix > Incidental Mutation

Incidental Mutation 'R1786:Aldh4a1'

202799

Institutional Source

Beutler Lab

Gene Symbol

Aldh4a1

Ensembl Gene

ENSMUSG00000028737

Gene Name

aldehyde dehydrogenase 4 family, member A1

Synonyms

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

MMRRC Submission

039817-MU

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.102) question?

Stock #

R1786 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

139622866-139649690 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 139644128 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 451 (V451A)

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: V451A

PolyPhen 2 Score 0.015 (Sensitivity: 0.96; Specificity: 0.79)

SMART Domains

Protein: ENSMUSP00000043821
Gene: ENSMUSG00000028737
AA Change: V451A

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

Meta Mutation Damage Score

0.8186

Coding Region Coverage

1x: 97.5%
3x: 96.9%
10x: 95.3%
20x: 92.4%

Validation Efficiency

97% (98/101)

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: 93 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2010111I01Rik	T	A	13: 63,210,149	C656S	probably benign	Het
9030624J02Rik	T	C	7: 118,794,575	Y516H	probably damaging	Het
A2ml1	T	A	6: 128,576,260	N178I	probably damaging	Het
Abcc4	G	A	14: 118,553,349	R749C	probably damaging	Het
Acot11	T	C	4: 106,762,035	E201G	probably damaging	Het
Akap13	G	T	7: 75,611,434	A1269S	probably benign	Het
Aox3	A	G	1: 58,169,843	H845R	probably damaging	Het
Asb6	G	A	2: 30,827,076	R46W	probably damaging	Het
Bpifb6	T	C	2: 153,906,861	F259S	probably damaging	Het
Cad	T	A	5: 31,058,072	F76I	probably damaging	Het
Camk2b	T	C	11: 5,977,880	E390G	probably benign	Het
Cars	C	A	7: 143,592,474	R71M	probably damaging	Het
Ccdc170	T	G	10: 4,519,043	I197S	probably benign	Het
Cdc20b	A	T	13: 113,081,134	K362N	probably damaging	Het
Cntrl	CAGAG	CAG	2: 35,122,806		probably null	Het
Cpd	T	C	11: 76,792,798	D1045G	probably benign	Het
Crocc	T	C	4: 141,021,802	D1564G	probably damaging	Het
Csf1r	A	T	18: 61,129,077	M802L	probably damaging	Het
Dctn4	T	C	18: 60,546,335		probably null	Het
Dnah5	A	G	15: 28,313,786	Q1916R	probably damaging	Het
Dpysl2	A	G	14: 66,862,665		probably benign	Het
Dync2h1	A	G	9: 7,081,084	Y2871H	probably damaging	Het
Fam221b	T	A	4: 43,665,537	H307L	probably damaging	Het
Foxn4	C	T	5: 114,263,132	D37N	probably damaging	Het
Gemin4	G	C	11: 76,211,050	P962A	probably damaging	Het
Gm9797	T	C	10: 11,609,325		noncoding transcript	Het
Golim4	A	T	3: 75,908,149	V116D	probably damaging	Het
Gper1	C	T	5: 139,426,722	P274L	probably damaging	Het
Gpr132	A	G	12: 112,852,403	S268P	probably damaging	Het
Gtpbp2	T	C	17: 46,161,202	M21T	probably benign	Het
Hivep1	C	T	13: 42,183,786	A2447V	possibly damaging	Het
Ift20	G	A	11: 78,540,034	E68K	probably damaging	Het
Insrr	G	A	3: 87,810,572		probably null	Het
Kcnh8	T	C	17: 52,893,933	V465A	probably damaging	Het
Kif5c	T	A	2: 49,758,805		probably benign	Het
Kmt2a	G	A	9: 44,819,675		probably benign	Het
Lhx6	G	T	2: 36,087,458	C327*	probably null	Het
Lifr	A	G	15: 7,181,856	D625G	possibly damaging	Het
Llgl1	T	C	11: 60,707,240	V370A	probably benign	Het
Lman1	A	T	18: 65,991,582	M362K	probably damaging	Het
Lmtk2	C	T	5: 144,174,988	T842I	possibly damaging	Het
Lpin3	T	A	2: 160,896,809	L227*	probably null	Het
Ltv1	C	G	10: 13,182,536		probably benign	Het
Magel2	A	T	7: 62,377,738	H130L	unknown	Het
Mettl17	A	T	14: 51,888,735		probably benign	Het
Mnx1	T	A	5: 29,474,189	S299C	unknown	Het
Mov10	A	T	3: 104,818,116	I59N	possibly damaging	Het
Myo7b	T	C	18: 31,994,897	I581V	probably benign	Het
Ncdn	T	A	4: 126,745,273		probably null	Het
Ndufa4	A	T	6: 11,900,575	V37E	probably benign	Het
Nhsl1	T	G	10: 18,524,664	L546R	probably benign	Het
Nop9	T	C	14: 55,751,142	L347P	probably damaging	Het
Nrp1	A	T	8: 128,498,516	E782D	probably damaging	Het
Ntrk3	G	A	7: 78,477,935		probably benign	Het
Olfr341	A	G	2: 36,480,047	S28P	possibly damaging	Het
Olfr372	A	G	8: 72,058,436	Y252C	probably damaging	Het
Olfr968	A	T	9: 39,772,495	C102S	probably benign	Het
Osbpl6	T	A	2: 76,586,214	I546K	probably damaging	Het
Pard6g	T	C	18: 80,117,308	V212A	probably damaging	Het
Pknox2	A	G	9: 36,909,684	V294A	probably damaging	Het
Plekha1	T	C	7: 130,892,253	V106A	probably benign	Het
Plekha6	C	A	1: 133,279,365		probably null	Het
Ptgdr	A	T	14: 44,858,579	Y225*	probably null	Het
Ptpn22	A	G	3: 103,874,052	I90V	probably damaging	Het
Pygb	C	T	2: 150,816,772	T372I	probably damaging	Het
Pzp	T	C	6: 128,491,161		probably null	Het
Qrich2	C	T	11: 116,441,449	G2307D	probably damaging	Het
Rfwd3	A	T	8: 111,297,402	V96E	probably benign	Het
Senp1	T	A	15: 98,075,967	T132S	probably benign	Het
Slc9a4	T	G	1: 40,607,741		probably null	Het
Slfn9	T	A	11: 82,981,307	I868F	probably damaging	Het
St3gal6	T	C	16: 58,475,871	D137G	probably damaging	Het
Synj1	G	T	16: 90,964,517	A687D	probably damaging	Het
Syt4	A	G	18: 31,443,443		probably benign	Het
Tacc1	A	T	8: 25,164,493	N271K	probably damaging	Het
Tdrd6	T	C	17: 43,624,833	T1775A	probably benign	Het
Tecpr1	T	A	5: 144,208,645	T595S	probably benign	Het
Tjp3	T	A	10: 81,278,054	M457L	possibly damaging	Het
Tmem200a	T	A	10: 25,993,927	H148L	probably damaging	Het
Trappc8	A	G	18: 20,834,940		probably null	Het
Txk	T	A	5: 72,696,579	T472S	probably damaging	Het
Ubr4	T	A	4: 139,423,945	M1897K	probably damaging	Het
Uggt2	A	G	14: 119,061,376	L391P	probably damaging	Het
Uncx	T	C	5: 139,547,547	S456P	probably benign	Het
Vps13b	A	G	15: 35,879,791	Y3004C	probably damaging	Het
Wisp1	G	A	15: 66,906,489	C53Y	probably damaging	Het
Zbtb46	C	T	2: 181,391,431	C479Y	probably damaging	Het
Zc3h7a	A	T	16: 11,150,605	Y503*	probably null	Het
Zdhhc13	T	A	7: 48,824,644	L548Q	possibly damaging	Het
Zfp236	T	C	18: 82,621,304	M1225V	probably benign	Het
Zfp280d	T	C	9: 72,308,005	F133L	probably damaging	Het
Zfp503	A	T	14: 21,985,520	C443S	possibly damaging	Het
Zfyve26	T	A	12: 79,268,434	I1423F	possibly damaging	Het

Other mutations in Aldh4a1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01732:Aldh4a1	APN	4	139642160	nonsense	probably null
IGL01916:Aldh4a1	APN	4	139644146	missense	probably damaging	1.00
IGL02368:Aldh4a1	APN	4	139648200	nonsense	probably null
IGL02469:Aldh4a1	APN	4	139648161	missense	probably damaging	0.98
PIT4402001:Aldh4a1	UTSW	4	139642191	nonsense	probably null
R0511:Aldh4a1	UTSW	4	139642571	splice site	probably benign
R1352:Aldh4a1	UTSW	4	139635519	missense	probably benign	0.18
R1484:Aldh4a1	UTSW	4	139643447	missense	probably benign	0.00
R1717:Aldh4a1	UTSW	4	139638529	missense	possibly damaging	0.93
R1717:Aldh4a1	UTSW	4	139633994	splice site	probably null
R1729:Aldh4a1	UTSW	4	139644161	missense	probably damaging	1.00
R1784:Aldh4a1	UTSW	4	139644161	missense	probably damaging	1.00
R1785:Aldh4a1	UTSW	4	139644128	missense	probably benign	0.01
R3696:Aldh4a1	UTSW	4	139642251	missense	possibly damaging	0.68
R3697:Aldh4a1	UTSW	4	139642251	missense	possibly damaging	0.68
R3698:Aldh4a1	UTSW	4	139642251	missense	possibly damaging	0.68
R4603:Aldh4a1	UTSW	4	139643429	missense	probably damaging	0.97
R5197:Aldh4a1	UTSW	4	139648301	intron	probably benign
R5375:Aldh4a1	UTSW	4	139633922	missense	probably benign
R5539:Aldh4a1	UTSW	4	139638522	missense	probably benign	0.05
R5590:Aldh4a1	UTSW	4	139642104	missense	probably damaging	1.00
R6101:Aldh4a1	UTSW	4	139638495	missense	possibly damaging	0.91
R6105:Aldh4a1	UTSW	4	139638495	missense	possibly damaging	0.91
R7600:Aldh4a1	UTSW	4	139645004	missense	probably benign
R7666:Aldh4a1	UTSW	4	139633957	missense	probably damaging	0.99
R8356:Aldh4a1	UTSW	4	139638522	missense	probably benign	0.05
R8832:Aldh4a1	UTSW	4	139644155	missense	probably benign
R9047:Aldh4a1	UTSW	4	139623200	splice site	probably benign
R9407:Aldh4a1	UTSW	4	139645034	missense	probably benign	0.01
R9638:Aldh4a1	UTSW	4	139644116	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- GGCTGCTTTACCTGAGGATATG -3'
(R):5'- AACTGCATCCAGGAGGTGAG -3'

Sequencing Primer
(F):5'- CTTCTGCCTAATGGTCAGGAAGC -3'
(R):5'- CATCCAGGAGGTGAGGTTGGC -3'

Posted On

2014-06-23