Mutagenetix > Incidental Mutation

Incidental Mutation 'R5493:Aldh18a1'

432215

Institutional Source

Beutler Lab

Gene Symbol

Aldh18a1

Ensembl Gene

ENSMUSG00000025007

Gene Name

aldehyde dehydrogenase 18 family, member A1

Synonyms

2810433K04Rik, Pycs

MMRRC Submission

043054-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R5493 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

40538701-40576907 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 40539734 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Glutamine at position 747 (R747Q)

Ref Sequence

ENSEMBL: ENSMUSP00000135426 (fasta)

Gene Model

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

AlphaFold

Q9Z110

Predicted Effect

probably damaging
Transcript: ENSMUST00000025979
AA Change: R749Q

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

SMART Domains

Protein: ENSMUSP00000025979
Gene: ENSMUSG00000025007
AA Change: R749Q

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000155613

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: R747Q

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

SMART Domains

Protein: ENSMUSP00000135426
Gene: ENSMUSG00000025007
AA Change: R747Q

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

Meta Mutation Damage Score

0.9310

Coding Region Coverage

1x: 98.3%
3x: 97.3%
10x: 95.1%
20x: 90.4%

Validation Efficiency

99% (80/81)

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: 67 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2510009E07Rik	A	G	16: 21,471,993 (GRCm39)	S236P	possibly damaging	Het
A830018L16Rik	C	T	1: 11,615,431 (GRCm39)	R135C	probably damaging	Het
Agpat3	A	G	10: 78,120,069 (GRCm39)	V155A	possibly damaging	Het
Aloxe3	A	T	11: 69,019,443 (GRCm39)	R119*	probably null	Het
Asap1	A	G	15: 64,002,000 (GRCm39)	V460A	possibly damaging	Het
Bicral	C	A	17: 47,112,620 (GRCm39)	R860L	possibly damaging	Het
Cd180	T	A	13: 102,842,649 (GRCm39)	I565N	probably benign	Het
Cdk13	T	C	13: 17,978,147 (GRCm39)		probably benign	Het
Cdkn2d	T	C	9: 21,200,303 (GRCm39)	D156G	probably benign	Het
Clrn1	A	G	3: 58,753,837 (GRCm39)	S175P	probably damaging	Het
Coro7	A	G	16: 4,450,351 (GRCm39)	L535S	probably damaging	Het
Cse1l	A	G	2: 166,783,110 (GRCm39)		probably benign	Het
Cyp2a12	T	C	7: 26,728,550 (GRCm39)	L7P	unknown	Het
D130043K22Rik	A	G	13: 25,047,586 (GRCm39)	Y377C	probably damaging	Het
Dctn1	G	T	6: 83,159,546 (GRCm39)	R8L	possibly damaging	Het
Duox2	T	C	2: 122,111,977 (GRCm39)	Q1341R	probably damaging	Het
Eif2b3	A	G	4: 116,943,919 (GRCm39)	D447G	possibly damaging	Het
Eif4a3l1	C	G	6: 136,306,555 (GRCm39)	R339G	probably damaging	Het
Fbxw25	T	C	9: 109,481,984 (GRCm39)	Y234C	probably benign	Het
Gcnt2	A	G	13: 41,107,076 (GRCm39)	N315S	possibly damaging	Het
Gm20730	A	T	6: 43,058,746 (GRCm39)	V22E	possibly damaging	Het
Gm4847	T	A	1: 166,457,890 (GRCm39)	I488F	probably damaging	Het
Gmds	A	T	13: 32,124,488 (GRCm39)	M290K	probably benign	Het
Gtf3c1	T	C	7: 125,269,716 (GRCm39)	N699S	probably damaging	Het
Hk3	A	G	13: 55,158,984 (GRCm39)	V479A	probably damaging	Het
Ifnlr1	G	A	4: 135,432,877 (GRCm39)	V438M	probably benign	Het
Il12rb1	C	A	8: 71,262,483 (GRCm39)	P26T	probably benign	Het
Il4i1	G	T	7: 44,489,477 (GRCm39)	R414L	possibly damaging	Het
Ipo4	T	C	14: 55,868,327 (GRCm39)	N490S	probably benign	Het
Kcnmb2	A	G	3: 32,252,291 (GRCm39)	E164G	probably damaging	Het
Kcns1	G	A	2: 164,009,899 (GRCm39)	L287F	probably benign	Het
Kdm1a	ACC	AC	4: 136,284,732 (GRCm39)		probably null	Het
Klk14	G	A	7: 43,341,501 (GRCm39)	C51Y	probably damaging	Het
Knl1	T	A	2: 118,899,211 (GRCm39)	I304K	probably damaging	Het
Ksr2	G	T	5: 117,846,175 (GRCm39)	V681F	probably damaging	Het
Lypd2	T	C	15: 74,606,127 (GRCm39)	T4A	probably benign	Het
Man1a	A	G	10: 53,950,576 (GRCm39)	V182A	probably benign	Het
Or12j4	A	T	7: 140,046,720 (GRCm39)	D202V	probably damaging	Het
Or13e8	A	G	4: 43,696,225 (GRCm39)	F316S	possibly damaging	Het
Or2w2	A	T	13: 21,758,042 (GRCm39)	C195S	probably damaging	Het
Or51f5	A	T	7: 102,424,315 (GRCm39)	R195W	probably benign	Het
Or56b1b	T	C	7: 108,164,774 (GRCm39)	D76G	probably benign	Het
Pcdha2	C	A	18: 37,072,562 (GRCm39)	F64L	probably damaging	Het
Pgap3	G	C	11: 98,281,540 (GRCm39)	F168L	possibly damaging	Het
Pip5k1b	T	C	19: 24,416,439 (GRCm39)	N16S	probably benign	Het
Ppip5k1	T	A	2: 121,167,253 (GRCm39)	H41L	probably damaging	Het
Ppp1r9a	A	G	6: 5,159,702 (GRCm39)	R1080G	probably damaging	Het
Qrich2	A	C	11: 116,336,774 (GRCm39)		probably null	Het
Rbl2	C	T	8: 91,842,447 (GRCm39)	P1034L	probably damaging	Het
Rbpjl	GCC	GC	2: 164,256,330 (GRCm39)		probably null	Het
Rin2	A	G	2: 145,702,629 (GRCm39)	S442G	probably damaging	Het
Rtca	C	T	3: 116,293,280 (GRCm39)	R71Q	probably benign	Het
Serpind1	A	T	16: 17,157,902 (GRCm39)	N366I	probably damaging	Het
Shox2	C	G	3: 66,888,796 (GRCm39)	G32R	probably damaging	Het
Sp3	T	A	2: 72,768,466 (GRCm39)	N766Y	probably damaging	Het
Spag7	T	A	11: 70,560,059 (GRCm39)	S17C	probably null	Het
Stk25	A	T	1: 93,563,031 (GRCm39)	F7I	probably benign	Het
Tbx15	G	A	3: 99,259,880 (GRCm39)	G584S	probably benign	Het
Tenm2	T	C	11: 36,755,503 (GRCm39)	D165G	probably benign	Het
Tox2	C	A	2: 163,046,649 (GRCm39)	S42*	probably null	Het
Vmn1r39	A	G	6: 66,781,754 (GRCm39)	V188A	probably damaging	Het
Zbtb5	A	T	4: 44,993,941 (GRCm39)	M481K	probably benign	Het
Zfp26	T	C	9: 20,355,615 (GRCm39)	T56A	possibly damaging	Het
Zfp459	C	A	13: 67,556,498 (GRCm39)	C195F	probably damaging	Het
Zfp703	C	T	8: 27,469,233 (GRCm39)	P299L	probably damaging	Het
Zfp764	A	G	7: 127,004,105 (GRCm39)	I342T	probably benign	Het
Zfp942	T	C	17: 22,151,985 (GRCm39)	N7D	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
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
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'- TCTGGAGATCCTGGAGTAGC -3'
(R):5'- TGTAGTGACAGGACTCACCC -3'

Sequencing Primer
(F):5'- AGTAGCCTCCATGTGCCAGAC -3'
(R):5'- CCACAAGTGAGGACCGTCAG -3'

Posted On

2016-10-05