Mutagenetix > Incidental Mutation

Incidental Mutation 'R0498:Aldh18a1'

40638

Institutional Source

Beutler Lab

Gene Symbol

Aldh18a1

Ensembl Gene

ENSMUSG00000025007

Gene Name

aldehyde dehydrogenase 18 family, member A1

Synonyms

2810433K04Rik, Pycs

MMRRC Submission

038694-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R0498 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

40538701-40576907 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 40562716 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 219 (V219A)

Ref Sequence

ENSEMBL: ENSMUSP00000135426 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000025979] [ENSMUST00000149476] [ENSMUST00000175932] [ENSMUST00000176939] [ENSMUST00000176955]

AlphaFold

Q9Z110

Predicted Effect

probably benign
Transcript: ENSMUST00000025979
AA Change: V219A

PolyPhen 2 Score 0.295 (Sensitivity: 0.91; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000025979
Gene: ENSMUSG00000025007
AA Change: V219A

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: ENSMUST00000134749

Predicted Effect

probably benign
Transcript: ENSMUST00000149476

SMART Domains

Protein: ENSMUSP00000115429
Gene: ENSMUSG00000025007

Domain	Start	End	E-Value	Type
Pfam:AA_kinase	71	173	3.3e-13	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000175932

Predicted Effect

probably benign
Transcript: ENSMUST00000176939
AA Change: V219A

PolyPhen 2 Score 0.295 (Sensitivity: 0.91; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000135426
Gene: ENSMUSG00000025007
AA Change: V219A

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

Predicted Effect

probably benign
Transcript: ENSMUST00000176955

SMART Domains

Protein: ENSMUSP00000135759
Gene: ENSMUSG00000025007

Domain	Start	End	E-Value	Type
PDB:4Q1T\|D	1	83	1e-5	PDB

Meta Mutation Damage Score

0.2097

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 96.9%
20x: 94.4%

Validation Efficiency

100% (68/68)

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: 68 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930433I11Rik	A	T	7: 40,642,718 (GRCm39)	D220V	probably benign	Het
Adgrf2	A	G	17: 43,025,206 (GRCm39)		probably benign	Het
Anapc10	A	G	8: 80,501,610 (GRCm39)	D126G	probably benign	Het
Ap1m2	T	C	9: 21,207,129 (GRCm39)	*426W	probably null	Het
Arhgap21	A	G	2: 20,867,928 (GRCm39)	I865T	probably damaging	Het
Armc8	A	G	9: 99,379,345 (GRCm39)	V527A	probably damaging	Het
Asic5	A	T	3: 81,913,778 (GRCm39)		probably benign	Het
Baz2b	A	C	2: 59,732,340 (GRCm39)		probably benign	Het
Bpifa5	T	C	2: 154,009,169 (GRCm39)	V237A	probably damaging	Het
Brip1	T	A	11: 86,088,745 (GRCm39)	K52I	possibly damaging	Het
Cacna1g	T	C	11: 94,350,685 (GRCm39)	I387V	probably damaging	Het
Cbr4	A	G	8: 61,948,107 (GRCm39)	I135V	probably benign	Het
Ccdc66	C	T	14: 27,222,197 (GRCm39)		probably null	Het
Cubn	G	A	2: 13,449,078 (GRCm39)	T999M	probably damaging	Het
Dnai3	G	T	3: 145,787,119 (GRCm39)	D305E	possibly damaging	Het
Dpp8	C	T	9: 64,953,077 (GRCm39)		probably benign	Het
Dsg1b	T	C	18: 20,542,390 (GRCm39)	S966P	possibly damaging	Het
Erp27	T	C	6: 136,896,862 (GRCm39)		probably benign	Het
Fat4	A	T	3: 39,034,786 (GRCm39)	I2813L	probably benign	Het
Fhod1	G	A	8: 106,056,488 (GRCm39)	R1101C	probably damaging	Het
Hoxc9	T	C	15: 102,892,359 (GRCm39)	S191P	probably damaging	Het
Izumo4	T	C	10: 80,540,030 (GRCm39)		probably null	Het
Kalrn	C	T	16: 33,875,261 (GRCm39)	D104N	possibly damaging	Het
Kank4	A	T	4: 98,667,873 (GRCm39)	D191E	probably benign	Het
Kbtbd11	A	G	8: 15,077,605 (GRCm39)	E68G	probably benign	Het
Kdr	C	T	5: 76,119,798 (GRCm39)	V654I	probably benign	Het
Klra1	A	T	6: 130,349,782 (GRCm39)		probably null	Het
Kmt2e	T	A	5: 23,683,970 (GRCm39)	Y373*	probably null	Het
Lepr	A	T	4: 101,602,889 (GRCm39)	M226L	probably benign	Het
Lrp1b	T	A	2: 41,348,417 (GRCm39)	I800F	probably benign	Het
Lta4h	T	C	10: 93,307,833 (GRCm39)		probably benign	Het
Map3k7	T	C	4: 31,974,814 (GRCm39)		probably benign	Het
Map4k4	G	A	1: 40,029,338 (GRCm39)	R371Q	probably benign	Het
Mgat4f	A	G	1: 134,318,610 (GRCm39)	I461V	possibly damaging	Het
Mme	A	G	3: 63,253,487 (GRCm39)	I444V	probably damaging	Het
Mms19	C	T	19: 41,938,212 (GRCm39)	R582Q	possibly damaging	Het
Mtss1	A	G	15: 58,817,286 (GRCm39)	S502P	probably damaging	Het
Myo3a	G	T	2: 22,467,441 (GRCm39)	A232S	possibly damaging	Het
Nwd2	G	T	5: 63,963,686 (GRCm39)	W1090L	probably damaging	Het
Or4k15	A	C	14: 50,364,750 (GRCm39)	T239P	probably damaging	Het
Or8b12	G	A	9: 37,657,550 (GRCm39)	G40E	probably damaging	Het
Pcm1	G	A	8: 41,746,806 (GRCm39)	S1335N	probably benign	Het
Pdzph1	A	G	17: 59,280,825 (GRCm39)	F486L	probably benign	Het
Piezo2	T	C	18: 63,235,245 (GRCm39)	K552R	possibly damaging	Het
Plekhs1	T	A	19: 56,469,536 (GRCm39)		probably null	Het
Pprc1	C	T	19: 46,060,007 (GRCm39)	Q1514*	probably null	Het
Ralgapa1	T	C	12: 55,736,576 (GRCm39)	T1831A	possibly damaging	Het
Rnpep	G	T	1: 135,193,090 (GRCm39)	D455E	probably damaging	Het
Rpgrip1	T	A	14: 52,368,771 (GRCm39)		probably benign	Het
Saxo1	A	T	4: 86,397,133 (GRCm39)	M135K	possibly damaging	Het
Serpina12	T	C	12: 104,002,048 (GRCm39)	T223A	probably damaging	Het
Serpinb3a	A	G	1: 106,974,880 (GRCm39)	F218L	probably damaging	Het
Serpinb9f	T	G	13: 33,509,990 (GRCm39)		probably benign	Het
Spata33	A	G	8: 123,948,662 (GRCm39)	D98G	probably benign	Het
Stard13	T	A	5: 150,975,942 (GRCm39)	Y742F	probably damaging	Het
Tecta	A	G	9: 42,288,910 (GRCm39)	Y552H	probably damaging	Het
Tie1	A	T	4: 118,336,358 (GRCm39)		probably benign	Het
Tmem161a	A	G	8: 70,633,623 (GRCm39)	T254A	probably benign	Het
Tmem30a	G	T	9: 79,681,376 (GRCm39)	Y264*	probably null	Het
Tmem87a	A	T	2: 120,224,946 (GRCm39)	I105K	probably benign	Het
Tnrc6b	A	T	15: 80,742,920 (GRCm39)	D51V	probably damaging	Het
Trgc3	T	A	13: 19,445,262 (GRCm39)	M70K	probably damaging	Het
Trpc4	T	C	3: 54,198,632 (GRCm39)	F519L	probably damaging	Het
Ttn	T	C	2: 76,539,925 (GRCm39)	T26027A	probably damaging	Het
Vmn1r198	A	C	13: 22,539,144 (GRCm39)	H121P	probably damaging	Het
Vps33a	A	G	5: 123,709,024 (GRCm39)	F64L	probably benign	Het
Zfp1008	T	C	13: 62,755,201 (GRCm39)	N39S	probably damaging	Het
Zfp994	A	T	17: 22,419,882 (GRCm39)	C356S	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
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
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'- TCTGGCAGGCAGAAACCAATGATAC -3'
(R):5'- GGAAGTTCATCATTTTCTCCCCGGC -3'

Sequencing Primer
(F):5'- AAACTCCCTCATTTCAGAGGTGC -3'
(R):5'- GGCCGCATCTTCTATTTAATCTC -3'

Posted On

2013-05-23