Mutagenetix > Incidental Mutation

Incidental Mutation 'R6785:Aldh18a1'

531648

Institutional Source

Beutler Lab

Gene Symbol

Aldh18a1

Ensembl Gene

ENSMUSG00000025007

Gene Name

aldehyde dehydrogenase 18 family, member A1

Synonyms

2810433K04Rik, Pycs

MMRRC Submission

044899-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R6785 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

40538701-40576907 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 40556788 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Proline at position 375 (L375P)

Ref Sequence

ENSEMBL: ENSMUSP00000135426 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000025979] [ENSMUST00000176939]

AlphaFold

Q9Z110

Predicted Effect

probably damaging
Transcript: ENSMUST00000025979
AA Change: L377P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000025979
Gene: ENSMUSG00000025007
AA Change: L377P

Domain	Start	End	E-Value	Type
Pfam:AA_kinase	71	329	1e-41	PFAM
Pfam:Aldedh	350	659	3.9e-10	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000176939
AA Change: L375P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000135426
Gene: ENSMUSG00000025007
AA Change: L375P

Domain	Start	End	E-Value	Type
Pfam:AA_kinase	71	327	1.9e-39	PFAM
Pfam:Aldedh	351	665	3.4e-11	PFAM

Coding Region Coverage

1x: 99.9%
3x: 99.7%
10x: 98.6%
20x: 96.3%

Validation Efficiency

98% (59/60)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene is a member of the aldehyde dehydrogenase family and encodes a bifunctional ATP- and NADPH-dependent mitochondrial enzyme with both gamma-glutamyl kinase and gamma-glutamyl phosphate reductase activities. The encoded protein catalyzes the reduction of glutamate to delta1-pyrroline-5-carboxylate, a critical step in the de novo biosynthesis of proline, ornithine and arginine. Mutations in this gene lead to hyperammonemia, hypoornithinemia, hypocitrullinemia, hypoargininemia and hypoprolinemia and may be associated with neurodegeneration, cataracts and connective tissue diseases. Alternatively spliced transcript variants, encoding different isoforms, have been described for this gene. [provided by RefSeq, Jul 2008]

Allele List at MGI

Other mutations in this stock

Total: 61 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abi1	A	G	2: 22,843,479 (GRCm39)	V316A	probably benign	Het
Acad12	T	C	5: 121,747,908 (GRCm39)	Y170C	probably damaging	Het
Acss2	T	C	2: 155,402,605 (GRCm39)	V587A	probably damaging	Het
Adamtsl3	A	G	7: 82,171,212 (GRCm39)	I422V	probably damaging	Het
B020011L13Rik	A	G	1: 117,728,799 (GRCm39)	D102G	possibly damaging	Het
Cfap74	T	A	4: 155,538,481 (GRCm39)		probably benign	Het
Coa4	G	A	7: 100,188,460 (GRCm39)	V58M	probably damaging	Het
Crybg1	T	C	10: 43,875,167 (GRCm39)	N647S	probably benign	Het
Dync1h1	G	A	12: 110,596,113 (GRCm39)	G1547S	probably damaging	Het
Espnl	A	G	1: 91,249,943 (GRCm39)	D30G	probably benign	Het
Fasl	T	A	1: 161,609,404 (GRCm39)	Y194F	probably benign	Het
Fbxw8	T	C	5: 118,230,754 (GRCm39)	E349G	probably damaging	Het
Gen1	A	G	12: 11,312,531 (GRCm39)	V13A	possibly damaging	Het
Gm4559	A	G	7: 141,827,845 (GRCm39)	C86R	unknown	Het
H2-M9	T	C	17: 36,953,125 (GRCm39)	N61D	probably damaging	Het
H6pd	C	T	4: 150,067,247 (GRCm39)	E380K	possibly damaging	Het
Herc1	TCCC	TCC	9: 66,408,470 (GRCm39)		probably null	Het
Hnrnpd	C	A	5: 100,126,283 (GRCm39)	K67N	probably benign	Het
Hspg2	T	C	4: 137,235,709 (GRCm39)	S170P	probably damaging	Het
Igsf10	G	T	3: 59,226,665 (GRCm39)	P2336Q	probably damaging	Het
Itih3	C	T	14: 30,634,572 (GRCm39)		probably null	Het
Katnb1	T	C	8: 95,822,270 (GRCm39)	Y298H	probably benign	Het
Kif21a	A	T	15: 90,819,933 (GRCm39)	N1610K	probably damaging	Het
Lce1l	A	T	3: 92,757,500 (GRCm39)	C119*	probably null	Het
Lcn2	C	T	2: 32,277,039 (GRCm39)		probably null	Het
Lmf2	A	T	15: 89,236,236 (GRCm39)	S588T	probably benign	Het
Mboat7	A	G	7: 3,688,835 (GRCm39)	L231P	probably benign	Het
Mier2	T	C	10: 79,380,547 (GRCm39)	R288G	probably damaging	Het
Mybbp1a	T	C	11: 72,338,392 (GRCm39)	V694A	probably benign	Het
Ndnf	C	A	6: 65,680,047 (GRCm39)	L109I	probably benign	Het
Nfkb1	C	A	3: 135,321,064 (GRCm39)	E230D	probably benign	Het
Nostrin	A	G	2: 69,014,271 (GRCm39)	K409R	probably benign	Het
Or1j10	A	G	2: 36,266,854 (GRCm39)	Q22R	probably benign	Het
Or1j10	C	A	2: 36,266,963 (GRCm39)	Y58*	probably null	Het
Or8k35	T	A	2: 86,424,765 (GRCm39)	M136L	probably damaging	Het
Pdpr	C	A	8: 111,851,243 (GRCm39)	T534N	probably benign	Het
Plekhf1	G	A	7: 37,921,488 (GRCm39)	Q27*	probably null	Het
Ppp6c	A	T	2: 39,087,593 (GRCm39)	H204Q	probably benign	Het
Prrc2c	T	C	1: 162,536,670 (GRCm39)		probably benign	Het
Prrg2	A	G	7: 44,709,649 (GRCm39)	F83L	probably damaging	Het
Rab11fip3	T	G	17: 26,210,692 (GRCm39)	D938A	probably damaging	Het
Rai1	A	G	11: 60,079,620 (GRCm39)	N1228S	probably benign	Het
Ryr1	G	T	7: 28,764,299 (GRCm39)	T3060K	probably benign	Het
Scube2	A	G	7: 109,409,824 (GRCm39)	I557T	probably benign	Het
Setdb1	C	A	3: 95,233,712 (GRCm39)	R1066L	probably benign	Het
Shoc1	T	C	4: 59,049,066 (GRCm39)	M1100V	probably benign	Het
Slc35f3	T	C	8: 127,121,198 (GRCm39)	V353A	probably benign	Het
Slfn3	A	T	11: 83,105,427 (GRCm39)	T475S	possibly damaging	Het
Snrnp200	T	A	2: 127,071,085 (GRCm39)	M1122K	possibly damaging	Het
Tead4	T	A	6: 128,219,444 (GRCm39)	K223*	probably null	Het
Tex2	A	C	11: 106,424,776 (GRCm39)	I334R	probably damaging	Het
Tfdp1	C	T	8: 13,420,485 (GRCm39)	R105W	probably damaging	Het
Tfdp1	G	T	8: 13,427,233 (GRCm39)	V393F	possibly damaging	Het
Thsd7b	T	C	1: 129,358,644 (GRCm39)	L26P	probably damaging	Het
Trim80	T	C	11: 115,332,027 (GRCm39)	I73T	probably damaging	Het
Tssk4	T	A	14: 55,887,932 (GRCm39)	Y43N	probably damaging	Het
Ttn	T	C	2: 76,541,839 (GRCm39)	T25389A	probably damaging	Het
Ttn	A	T	2: 76,578,288 (GRCm39)	F24202I	probably damaging	Het
Vmn1r177	A	G	7: 23,565,562 (GRCm39)	S105P	probably damaging	Het
Vmn2r40	T	A	7: 8,911,203 (GRCm39)	T697S	probably benign	Het
Zfp267	T	A	3: 36,219,601 (GRCm39)	C541*	probably null	Het

Other mutations in Aldh18a1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01020:Aldh18a1	APN	19	40,557,625 (GRCm39)	splice site	probably benign
IGL02353:Aldh18a1	APN	19	40,566,364 (GRCm39)	missense	probably damaging	0.98
IGL02360:Aldh18a1	APN	19	40,566,364 (GRCm39)	missense	probably damaging	0.98
IGL02974:Aldh18a1	APN	19	40,557,528 (GRCm39)	missense	probably damaging	0.96
IGL03295:Aldh18a1	APN	19	40,551,386 (GRCm39)	missense	probably damaging	1.00
PIT4498001:Aldh18a1	UTSW	19	40,562,800 (GRCm39)	missense	probably benign
R0267:Aldh18a1	UTSW	19	40,562,233 (GRCm39)	missense	probably benign	0.25
R0498:Aldh18a1	UTSW	19	40,562,716 (GRCm39)	missense	probably benign	0.29
R1140:Aldh18a1	UTSW	19	40,562,729 (GRCm39)	missense	probably benign	0.01
R1142:Aldh18a1	UTSW	19	40,539,657 (GRCm39)	missense	probably damaging	0.97
R1509:Aldh18a1	UTSW	19	40,545,927 (GRCm39)	missense	probably damaging	0.98
R1640:Aldh18a1	UTSW	19	40,573,943 (GRCm39)	missense	probably benign
R1721:Aldh18a1	UTSW	19	40,553,282 (GRCm39)	missense	probably damaging	1.00
R3012:Aldh18a1	UTSW	19	40,546,135 (GRCm39)	nonsense	probably null
R3085:Aldh18a1	UTSW	19	40,562,813 (GRCm39)	missense	probably benign
R3815:Aldh18a1	UTSW	19	40,558,944 (GRCm39)	missense	probably damaging	1.00
R3863:Aldh18a1	UTSW	19	40,539,758 (GRCm39)	missense	probably damaging	1.00
R4156:Aldh18a1	UTSW	19	40,539,725 (GRCm39)	missense	probably damaging	1.00
R5116:Aldh18a1	UTSW	19	40,541,949 (GRCm39)	missense	probably benign
R5135:Aldh18a1	UTSW	19	40,543,261 (GRCm39)	intron	probably benign
R5393:Aldh18a1	UTSW	19	40,574,011 (GRCm39)	missense	probably benign	0.00
R5492:Aldh18a1	UTSW	19	40,539,734 (GRCm39)	missense	probably damaging	1.00
R5493:Aldh18a1	UTSW	19	40,539,734 (GRCm39)	missense	probably damaging	1.00
R5494:Aldh18a1	UTSW	19	40,539,734 (GRCm39)	missense	probably damaging	1.00
R5957:Aldh18a1	UTSW	19	40,558,981 (GRCm39)	nonsense	probably null
R6255:Aldh18a1	UTSW	19	40,568,487 (GRCm39)	missense	possibly damaging	0.93
R6320:Aldh18a1	UTSW	19	40,559,005 (GRCm39)	missense	probably benign	0.44
R6358:Aldh18a1	UTSW	19	40,566,122 (GRCm39)	missense	possibly damaging	0.83
R6379:Aldh18a1	UTSW	19	40,566,214 (GRCm39)	critical splice donor site	probably null
R7334:Aldh18a1	UTSW	19	40,539,696 (GRCm39)	missense	probably damaging	1.00
R7549:Aldh18a1	UTSW	19	40,553,291 (GRCm39)	missense	probably damaging	1.00
R7935:Aldh18a1	UTSW	19	40,562,226 (GRCm39)	nonsense	probably null
R7960:Aldh18a1	UTSW	19	40,546,264 (GRCm39)	missense	probably benign	0.03
R8152:Aldh18a1	UTSW	19	40,553,456 (GRCm39)	missense	probably benign	0.01
R8179:Aldh18a1	UTSW	19	40,545,952 (GRCm39)	missense	probably damaging	1.00
R8181:Aldh18a1	UTSW	19	40,545,881 (GRCm39)	missense	probably benign	0.27
R8222:Aldh18a1	UTSW	19	40,562,296 (GRCm39)	missense	probably benign	0.00
R8787:Aldh18a1	UTSW	19	40,546,230 (GRCm39)	missense	possibly damaging	0.50

Predicted Primers

PCR Primer
(F):5'- AGATCAGCAGCTTCCCTAATC -3'
(R):5'- GGTGTTGCCATTATGTCGAC -3'

Sequencing Primer
(F):5'- AGATCAGCAGCTTCCCTAATCTTATC -3'
(R):5'- GCCATTATGTCGACCTTTTTGG -3'

Posted On

2018-08-29