Mutagenetix > Incidental Mutation

Incidental Mutation 'R7334:Aldh18a1'

569406

Institutional Source

Beutler Lab

Gene Symbol

Aldh18a1

Ensembl Gene

ENSMUSG00000025007

Gene Name

aldehyde dehydrogenase 18 family, member A1

Synonyms

2810433K04Rik, Pycs

MMRRC Submission

045371-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R7334 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

40538701-40576907 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 40539696 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tryptophan to Arginine at position 762 (W762R)

Ref Sequence

ENSEMBL: ENSMUSP00000025979 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000025979] [ENSMUST00000175967] [ENSMUST00000176939]

AlphaFold

Q9Z110

Predicted Effect

probably damaging
Transcript: ENSMUST00000025979
AA Change: W762R

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

SMART Domains

Protein: ENSMUSP00000025979
Gene: ENSMUSG00000025007
AA Change: W762R

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 benign
Transcript: ENSMUST00000175967

SMART Domains

Protein: ENSMUSP00000135419
Gene: ENSMUSG00000025007

Domain	Start	End	E-Value	Type
PDB:2H5G\|B	1	83	9e-52	PDB
SCOP:d1a4sa_	11	95	1e-14	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000176939
AA Change: W760R

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

SMART Domains

Protein: ENSMUSP00000135426
Gene: ENSMUSG00000025007
AA Change: W760R

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

Validation Efficiency

99% (75/76)

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: 74 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aadacl2fm3	T	A	3: 59,776,380 (GRCm39)	C184S	probably damaging	Het
Acadm	G	T	3: 153,644,698 (GRCm39)	S9*	probably null	Het
Acot10	C	T	15: 20,665,629 (GRCm39)	V371I	possibly damaging	Het
Adam8	T	C	7: 139,568,903 (GRCm39)	E199G	probably damaging	Het
Aldh1a1	T	A	19: 20,599,075 (GRCm39)	V162E	probably damaging	Het
Alms1	A	G	6: 85,618,432 (GRCm39)	D2357G	probably damaging	Het
Arfgef1	G	T	1: 10,254,685 (GRCm39)	Q718K	probably damaging	Het
Arid5b	A	C	10: 68,079,007 (GRCm39)	V110G	possibly damaging	Het
Bpifb3	T	A	2: 153,761,654 (GRCm39)	D34E	probably damaging	Het
Cacfd1	C	T	2: 26,905,558 (GRCm39)	A85V	possibly damaging	Het
Cep57l1	C	A	10: 41,597,596 (GRCm39)	S345I	probably benign	Het
Cibar2	T	C	8: 120,901,589 (GRCm39)	T39A	probably damaging	Het
Clca3b	G	A	3: 144,542,417 (GRCm39)	R462*	probably null	Het
Cyp26c1	G	A	19: 37,677,323 (GRCm39)	V251I	probably benign	Het
Dip2a	A	G	10: 76,110,080 (GRCm39)	S1179P	possibly damaging	Het
Dnal1	T	C	12: 84,173,780 (GRCm39)	L27P	probably damaging	Het
Dock7	A	G	4: 98,864,180 (GRCm39)	V1288A	unknown	Het
Elmod1	A	T	9: 53,841,508 (GRCm39)		probably null	Het
Epb41l5	T	G	1: 119,551,679 (GRCm39)	K102T	probably damaging	Het
Fermt3	T	C	19: 6,980,406 (GRCm39)	I358V	probably benign	Het
Frmd3	A	G	4: 74,079,955 (GRCm39)	I316V	probably benign	Het
Fryl	T	C	5: 73,204,839 (GRCm39)		probably null	Het
Gm4131	T	A	14: 62,702,356 (GRCm39)	H204L	possibly damaging	Het
Hmcn2	G	A	2: 31,325,806 (GRCm39)	G4278R	probably damaging	Het
Hmcn2	A	G	2: 31,343,147 (GRCm39)	S4558G	possibly damaging	Het
Igkv1-132	A	G	6: 67,737,108 (GRCm39)	T25A	probably benign	Het
Kcp	T	C	6: 29,485,511 (GRCm39)	E1161G	probably damaging	Het
Macf1	A	T	4: 123,293,235 (GRCm39)	I5371K	probably damaging	Het
Malrd1	T	A	2: 16,011,529 (GRCm39)	C1670S	probably damaging	Het
Mfsd13a	T	A	19: 46,356,809 (GRCm39)	V270E	probably damaging	Het
Mroh1	A	G	15: 76,311,838 (GRCm39)	I524V	probably benign	Het
Mta1	T	C	12: 113,090,418 (GRCm39)	S175P	possibly damaging	Het
Myo7a	C	T	7: 97,728,573 (GRCm39)	R800H	probably benign	Het
Ncald	T	A	15: 37,397,524 (GRCm39)	Y52F	probably damaging	Het
Nherf1	C	T	11: 115,054,593 (GRCm39)	A81V	possibly damaging	Het
Nomo1	T	C	7: 45,732,692 (GRCm39)	S1152P	probably damaging	Het
Nr3c1	A	G	18: 39,620,090 (GRCm39)	F66L	probably benign	Het
Nrf1	T	C	6: 30,118,970 (GRCm39)	L363S	probably benign	Het
Or4n4	C	A	14: 50,519,036 (GRCm39)	V225F	probably benign	Het
Or8b12b	A	T	9: 37,684,293 (GRCm39)	I113F	probably damaging	Het
Osbpl3	A	G	6: 50,321,886 (GRCm39)	M300T	possibly damaging	Het
Parpbp	T	A	10: 87,947,617 (GRCm39)	N339I	probably damaging	Het
Pdlim5	A	T	3: 141,950,678 (GRCm39)	H578Q	probably damaging	Het
Pear1	T	C	3: 87,657,532 (GRCm39)	N1009S	probably damaging	Het
Pnpla8	A	G	12: 44,358,286 (GRCm39)	I745M	probably damaging	Het
Pom121l12	C	A	11: 14,549,681 (GRCm39)	T129K	probably damaging	Het
Ppp1r14a	T	C	7: 28,992,687 (GRCm39)	S130P	probably damaging	Het
Prss12	A	C	3: 123,280,780 (GRCm39)	L488F	probably benign	Het
Psd3	C	T	8: 68,361,357 (GRCm39)	V559I	possibly damaging	Het
Rrh	T	C	3: 129,602,631 (GRCm39)	T364A	probably benign	Het
Shcbp1	A	T	8: 4,791,876 (GRCm39)	M479K	probably damaging	Het
Shcbp1	A	C	8: 4,804,310 (GRCm39)	F200C	probably damaging	Het
Slx1b	G	T	7: 126,291,699 (GRCm39)	R122S	probably damaging	Het
Spata31f1e	G	A	4: 42,793,856 (GRCm39)	T92I	possibly damaging	Het
Spidr	A	G	16: 15,932,689 (GRCm39)		probably null	Het
St18	G	A	1: 6,872,783 (GRCm39)	D173N	probably benign	Het
Stambpl1	T	C	19: 34,204,048 (GRCm39)	I46T	probably damaging	Het
Syne1	C	T	10: 5,007,886 (GRCm39)	D113N	probably damaging	Het
Tg	G	A	15: 66,597,121 (GRCm39)	V1741I	probably benign	Het
Thsd7b	T	A	1: 130,123,012 (GRCm39)	W1544R	probably benign	Het
Tiam2	G	A	17: 3,553,283 (GRCm39)	R1120H	possibly damaging	Het
Tinag	A	T	9: 76,908,931 (GRCm39)	C337S	probably damaging	Het
Tm4sf1	G	C	3: 57,200,510 (GRCm39)	A64G	probably damaging	Het
Tmprss6	A	G	15: 78,328,017 (GRCm39)	Y572H	unknown	Het
Tnfrsf11a	G	A	1: 105,754,854 (GRCm39)	A309T	possibly damaging	Het
Txndc11	A	G	16: 10,946,425 (GRCm39)	Y129H	probably damaging	Het
Ube3b	T	C	5: 114,553,742 (GRCm39)	F974S	possibly damaging	Het
Utrn	C	A	10: 12,603,753 (GRCm39)		probably null	Het
Vmn1r58	T	A	7: 5,414,066 (GRCm39)	M55L	probably benign	Het
Vnn1	T	A	10: 23,776,658 (GRCm39)	S336R	probably benign	Het
Wwc2	T	C	8: 48,322,829 (GRCm39)	Y424C	unknown	Het
Zfp507	T	C	7: 35,475,505 (GRCm39)	I903V	probably damaging	Het
Zfp551	C	T	7: 12,150,681 (GRCm39)	G243R	probably damaging	Het
Zfp60	T	A	7: 27,448,444 (GRCm39)	C371S	probably damaging	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
R6785:Aldh18a1	UTSW	19	40,556,788 (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'- ACAGACCCTTCCAAGAAGTGAG -3'
(R):5'- AGAAGACATGCATCGCAGGC -3'

Sequencing Primer
(F):5'- AGGGACGAGATCAGGTTCTCTC -3'
(R):5'- CATCGCAGGCTCATGGATGAAC -3'

Posted On

2019-09-13