Mutagenetix > Incidental Mutation

Incidental Mutation 'R5197:Aldh4a1'

400328

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

042773-MU

Accession Numbers

Essential gene?

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

Stock #

R5197 (G1)

Quality Score

147

Status

Validated

Chromosome

Chromosomal Location

139350177-139377001 bp(+) (GRCm39)

Type of Mutation

intron

DNA Base Change (assembly)

A to C at 139375612 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000136776 (fasta)

Gene Model

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

AlphaFold

Q8CHT0

Predicted Effect

probably benign
Transcript: ENSMUST00000039818

SMART Domains

Protein: ENSMUSP00000043821
Gene: ENSMUSG00000028737

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: 98.7%
10x: 97.3%
20x: 95.5%

Validation Efficiency

99% (67/68)

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: 64 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acsbg1	T	C	9: 54,529,866 (GRCm39)	E247G	possibly damaging	Het
Adgra3	A	G	5: 50,118,096 (GRCm39)	F1151L	probably benign	Het
Afg3l2	G	T	18: 67,554,329 (GRCm39)	L458M	probably damaging	Het
Anln	A	T	9: 22,264,077 (GRCm39)		probably null	Het
Aste1	T	C	9: 105,282,253 (GRCm39)	S74P	probably damaging	Het
Atp6v0e2	G	A	6: 48,517,051 (GRCm39)	R77H	probably benign	Het
Brpf1	A	G	6: 113,296,902 (GRCm39)	D962G	possibly damaging	Het
Btbd2	T	C	10: 80,482,253 (GRCm39)	D249G	probably damaging	Het
Catsper3	T	C	13: 55,955,989 (GRCm39)		probably null	Het
Cfap43	A	G	19: 47,885,811 (GRCm39)	L268P	probably damaging	Het
Cftr	T	C	6: 18,255,413 (GRCm39)	V540A	probably benign	Het
Col22a1	C	T	15: 71,881,255 (GRCm39)	G32D	probably damaging	Het
Col5a2	G	T	1: 45,432,241 (GRCm39)	P804Q	probably benign	Het
Cyp2d41-ps	A	G	15: 82,662,981 (GRCm39)		noncoding transcript	Het
Cyp39a1	T	G	17: 44,057,429 (GRCm39)	L423V	possibly damaging	Het
Elmo1	T	G	13: 20,748,607 (GRCm39)	V484G	probably benign	Het
Eps8	C	A	6: 137,467,288 (GRCm39)	Q656H	probably damaging	Het
Eps8	T	C	6: 137,467,289 (GRCm39)	Q656R	possibly damaging	Het
Fshb	T	C	2: 106,887,854 (GRCm39)	D55G	possibly damaging	Het
Garin1a	G	T	6: 29,281,221 (GRCm39)		probably benign	Het
H3c4	T	A	13: 23,760,304 (GRCm39)	L110Q	probably damaging	Het
Herc1	C	A	9: 66,355,786 (GRCm39)	Q2346K	probably damaging	Het
Htr3b	T	C	9: 48,856,815 (GRCm39)	D221G	probably benign	Het
Ift74	T	A	4: 94,550,833 (GRCm39)	D328E	probably benign	Het
Kif21b	A	T	1: 136,072,363 (GRCm39)	K23M	probably damaging	Het
Lgr6	C	T	1: 134,921,748 (GRCm39)	A199T	probably damaging	Het
Lipc	T	A	9: 70,705,673 (GRCm39)	E470V	probably benign	Het
Lrrc4	G	T	6: 28,830,142 (GRCm39)	T68K	probably damaging	Het
Lrrc63	T	A	14: 75,322,322 (GRCm39)	H594L	possibly damaging	Het
Mfsd14a	A	T	3: 116,442,150 (GRCm39)		probably benign	Het
Mob2	T	C	7: 141,563,274 (GRCm39)		probably null	Het
Nckap5	T	A	1: 126,150,410 (GRCm39)	H105L	possibly damaging	Het
Ngef	C	A	1: 87,437,090 (GRCm39)	G133*	probably null	Het
Or14j2	T	G	17: 37,886,111 (GRCm39)	I68L	probably benign	Het
Or1e16	AGCGGTCGTAGGC	AGC	11: 73,286,480 (GRCm39)		probably null	Het
Or2t1	T	A	14: 14,328,462 (GRCm38)	M117K	probably damaging	Het
Or52s1	G	A	7: 102,861,207 (GRCm39)	V47I	probably benign	Het
Or5b120	G	T	19: 13,479,748 (GRCm39)	V14F	possibly damaging	Het
Or5g23	T	C	2: 85,438,791 (GRCm39)	I154M	probably benign	Het
Pard3	A	G	8: 127,800,040 (GRCm39)		probably null	Het
Pgm2	C	T	5: 64,263,175 (GRCm39)	A274V	possibly damaging	Het
Ppp1r9a	T	A	6: 5,156,177 (GRCm39)	S1144R	probably damaging	Het
Pramel23	A	C	4: 143,424,632 (GRCm39)	C270W	possibly damaging	Het
Prkcq	C	T	2: 11,304,227 (GRCm39)	P590L	probably damaging	Het
Psmd13	T	A	7: 140,474,374 (GRCm39)		probably null	Het
Rab3gap1	T	A	1: 127,816,931 (GRCm39)	D63E	probably benign	Het
Rag2	C	A	2: 101,461,085 (GRCm39)	T465K	probably damaging	Het
Rnase6	A	G	14: 51,367,670 (GRCm39)	M21V	unknown	Het
Rufy4	T	C	1: 74,186,822 (GRCm39)	C537R	probably damaging	Het
Ryr2	A	T	13: 11,653,316 (GRCm39)		probably null	Het
Sash1	T	G	10: 8,615,989 (GRCm39)	R624S	probably damaging	Het
Slc1a2	A	G	2: 102,586,460 (GRCm39)	I355V	probably benign	Het
Srrm2	T	C	17: 24,036,358 (GRCm39)	S1097P	probably benign	Het
Sugct	C	T	13: 17,497,861 (GRCm39)	A271T	probably damaging	Het
Tdrd7	T	C	4: 46,034,350 (GRCm39)	V1065A	probably damaging	Het
Tmprss6	T	A	15: 78,338,389 (GRCm39)	Y307F	probably damaging	Het
Tram1	T	C	1: 13,642,126 (GRCm39)	N216S	probably benign	Het
Ttk	T	C	9: 83,721,394 (GRCm39)	V93A	probably benign	Het
Ubr4	A	G	4: 139,195,408 (GRCm39)	Y1210C	probably damaging	Het
Wdr7	A	G	18: 63,871,937 (GRCm39)	K364E	probably benign	Het
Xrcc2	G	T	5: 25,897,656 (GRCm39)	H98N	probably benign	Het
Zdhhc11	A	G	13: 74,113,688 (GRCm39)	I77V	probably benign	Het
Zfp54	C	T	17: 21,654,442 (GRCm39)	S312L	probably benign	Het
Zfp647	G	A	15: 76,796,285 (GRCm39)	P125L	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
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'- TTCTAGCTGCCAACCCTGTG -3'
(R):5'- CGCAGCGAATGAGAATTCTG -3'

Sequencing Primer
(F):5'- TCTCTCCCGCTGCCAAGAAC -3'
(R):5'- CGAATGAGAATTCTGGGTGGACTG -3'

Posted On

2016-07-06