Mutagenetix > Incidental Mutations

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

Accession Numbers

Is this an essential gene?

Essential (E-score: 1.000) question?

Stock #

R7334 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

40550257-40588463 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 40551252 bp

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]

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
Acadm	G	T	3: 153,939,061	S9*	probably null	Het
Acot10	C	T	15: 20,665,543	V371I	possibly damaging	Het
Adam8	T	C	7: 139,988,990	E199G	probably damaging	Het
Aldh1a1	T	A	19: 20,621,711	V162E	probably damaging	Het
Alms1	A	G	6: 85,641,450	D2357G	probably damaging	Het
Arfgef1	G	T	1: 10,184,460	Q718K	probably damaging	Het
Arid5b	A	C	10: 68,243,177	V110G	possibly damaging	Het
Bpifb3	T	A	2: 153,919,734	D34E	probably damaging	Het
Cacfd1	C	T	2: 27,015,546	A85V	possibly damaging	Het
Cep57l1	C	A	10: 41,721,600	S345I	probably benign	Het
Clca3b	G	A	3: 144,836,656	R462*	probably null	Het
Cyp26c1	G	A	19: 37,688,875	V251I	probably benign	Het
Dip2a	A	G	10: 76,274,246	S1179P	possibly damaging	Het
Dnal1	T	C	12: 84,127,006	L27P	probably damaging	Het
Dock7	A	G	4: 98,975,943	V1288A	unknown	Het
Elmod1	A	T	9: 53,934,224		probably null	Het
Epb41l5	T	G	1: 119,623,949	K102T	probably damaging	Het
Fam92b	T	C	8: 120,174,850	T39A	probably damaging	Het
Fermt3	T	C	19: 7,003,038	I358V	probably benign	Het
Frmd3	A	G	4: 74,161,718	I316V	probably benign	Het
Fryl	T	C	5: 73,047,496		probably null	Het
Gm12394	G	A	4: 42,793,856	T92I	possibly damaging	Het
Gm4131	T	A	14: 62,464,907	H204L	possibly damaging	Het
Gm8298	T	A	3: 59,868,959	C184S	probably damaging	Het
Hmcn2	G	A	2: 31,435,794	G4278R	probably damaging	Het
Hmcn2	A	G	2: 31,453,135	S4558G	possibly damaging	Het
Igkv1-132	A	G	6: 67,760,124	T25A	probably benign	Het
Kcp	T	C	6: 29,485,512	E1161G	probably damaging	Het
Macf1	A	T	4: 123,399,442	I5371K	probably damaging	Het
Malrd1	T	A	2: 16,006,718	C1670S	probably damaging	Het
Mfsd13a	T	A	19: 46,368,370	V270E	probably damaging	Het
Mroh1	A	G	15: 76,427,638	I524V	probably benign	Het
Mta1	T	C	12: 113,126,798	S175P	possibly damaging	Het
Myo7a	C	T	7: 98,079,366	R800H	probably benign	Het
Ncald	T	A	15: 37,397,280	Y52F	probably damaging	Het
Nomo1	T	C	7: 46,083,268	S1152P	probably damaging	Het
Nr3c1	A	G	18: 39,487,037	F66L	probably benign	Het
Nrf1	T	C	6: 30,118,971	L363S	probably benign	Het
Olfr732	C	A	14: 50,281,579	V225F	probably benign	Het
Olfr875	A	T	9: 37,772,997	I113F	probably damaging	Het
Osbpl3	A	G	6: 50,344,906	M300T	possibly damaging	Het
Parpbp	T	A	10: 88,111,755	N339I	probably damaging	Het
Pdlim5	A	T	3: 142,244,917	H578Q	probably damaging	Het
Pear1	T	C	3: 87,750,225	N1009S	probably damaging	Het
Pnpla8	A	G	12: 44,311,503	I745M	probably damaging	Het
Pom121l12	C	A	11: 14,599,681	T129K	probably damaging	Het
Ppp1r14a	T	C	7: 29,293,262	S130P	probably damaging	Het
Prss12	A	C	3: 123,487,131	L488F	probably benign	Het
Psd3	C	T	8: 67,908,705	V559I	possibly damaging	Het
Rrh	T	C	3: 129,808,982	T364A	probably benign	Het
Shcbp1	A	T	8: 4,741,876	M479K	probably damaging	Het
Shcbp1	A	C	8: 4,754,310	F200C	probably damaging	Het
Slc9a3r1	C	T	11: 115,163,767	A81V	possibly damaging	Het
Slx1b	G	T	7: 126,692,527	R122S	probably damaging	Het
Spidr	A	G	16: 16,114,825		probably null	Het
St18	G	A	1: 6,802,559	D173N	probably benign	Het
Stambpl1	T	C	19: 34,226,648	I46T	probably damaging	Het
Syne1	C	T	10: 5,057,886	D113N	probably damaging	Het
Tg	G	A	15: 66,725,272	V1741I	probably benign	Het
Thsd7b	T	A	1: 130,195,275	W1544R	probably benign	Het
Tiam2	G	A	17: 3,503,008	R1120H	possibly damaging	Het
Tinag	A	T	9: 77,001,649	C337S	probably damaging	Het
Tm4sf1	G	C	3: 57,293,089	A64G	probably damaging	Het
Tmprss6	A	G	15: 78,443,817	Y572H	unknown	Het
Tnfrsf11a	G	A	1: 105,827,129	A309T	possibly damaging	Het
Txndc11	A	G	16: 11,128,561	Y129H	probably damaging	Het
Ube3b	T	C	5: 114,415,681	F974S	possibly damaging	Het
Utrn	C	A	10: 12,728,009		probably null	Het
Vmn1r58	T	A	7: 5,411,067	M55L	probably benign	Het
Vnn1	T	A	10: 23,900,760	S336R	probably benign	Het
Wwc2	T	C	8: 47,869,794	Y424C	unknown	Het
Zfp507	T	C	7: 35,776,080	I903V	probably damaging	Het
Zfp551	C	T	7: 12,416,754	G243R	probably damaging	Het
Zfp60	T	A	7: 27,749,019	C371S	probably damaging	Het

Other mutations in Aldh18a1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01020:Aldh18a1	APN	19	40569181	splice site	probably benign
IGL02353:Aldh18a1	APN	19	40577920	missense	probably damaging	0.98
IGL02360:Aldh18a1	APN	19	40577920	missense	probably damaging	0.98
IGL02974:Aldh18a1	APN	19	40569084	missense	probably damaging	0.96
IGL03295:Aldh18a1	APN	19	40562942	missense	probably damaging	1.00
PIT4498001:Aldh18a1	UTSW	19	40574356	missense	probably benign
R0267:Aldh18a1	UTSW	19	40573789	missense	probably benign	0.25
R0498:Aldh18a1	UTSW	19	40574272	missense	probably benign	0.29
R1140:Aldh18a1	UTSW	19	40574285	missense	probably benign	0.01
R1142:Aldh18a1	UTSW	19	40551213	missense	probably damaging	0.97
R1509:Aldh18a1	UTSW	19	40557483	missense	probably damaging	0.98
R1640:Aldh18a1	UTSW	19	40585499	missense	probably benign
R1721:Aldh18a1	UTSW	19	40564838	missense	probably damaging	1.00
R3012:Aldh18a1	UTSW	19	40557691	nonsense	probably null
R3085:Aldh18a1	UTSW	19	40574369	missense	probably benign
R3815:Aldh18a1	UTSW	19	40570500	missense	probably damaging	1.00
R3863:Aldh18a1	UTSW	19	40551314	missense	probably damaging	1.00
R4156:Aldh18a1	UTSW	19	40551281	missense	probably damaging	1.00
R5116:Aldh18a1	UTSW	19	40553505	missense	probably benign
R5135:Aldh18a1	UTSW	19	40554817	intron	probably benign
R5393:Aldh18a1	UTSW	19	40585567	missense	probably benign	0.00
R5492:Aldh18a1	UTSW	19	40551290	missense	probably damaging	1.00
R5493:Aldh18a1	UTSW	19	40551290	missense	probably damaging	1.00
R5494:Aldh18a1	UTSW	19	40551290	missense	probably damaging	1.00
R5957:Aldh18a1	UTSW	19	40570537	nonsense	probably null
R6255:Aldh18a1	UTSW	19	40580043	missense	possibly damaging	0.93
R6320:Aldh18a1	UTSW	19	40570561	missense	probably benign	0.44
R6358:Aldh18a1	UTSW	19	40577678	missense	possibly damaging	0.83
R6379:Aldh18a1	UTSW	19	40577770	critical splice donor site	probably null
R6785:Aldh18a1	UTSW	19	40568344	missense	probably damaging	1.00
R7549:Aldh18a1	UTSW	19	40564847	missense	probably damaging	1.00
R7935:Aldh18a1	UTSW	19	40573782	nonsense	probably null
R7960:Aldh18a1	UTSW	19	40557820	missense	probably benign	0.03
R8152:Aldh18a1	UTSW	19	40565012	missense	probably benign	0.01
R8179:Aldh18a1	UTSW	19	40557508	missense	probably damaging	1.00
R8181:Aldh18a1	UTSW	19	40557437	missense	probably benign	0.27
R8222:Aldh18a1	UTSW	19	40573852	missense	probably benign	0.00

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