Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01364:Aldh1l2'

75856

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Aldh1l2

Ensembl Gene

ENSMUSG00000020256

Gene Name

aldehyde dehydrogenase 1 family, member L2

Synonyms

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL01364

Quality Score

Status

Chromosome

Chromosomal Location

83487450-83534140 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 83492667 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Tyrosine at position 729 (D729Y)

Ref Sequence

ENSEMBL: ENSMUSP00000117076 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000020488] [ENSMUST00000020497] [ENSMUST00000146640]

AlphaFold

Q8K009

Predicted Effect

probably benign
Transcript: ENSMUST00000020488

SMART Domains

Protein: ENSMUSP00000020488
Gene: ENSMUSG00000020255

Domain	Start	End	E-Value	Type
Pfam:DUF4598	68	175	1.9e-19	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000020497
AA Change: D842Y

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

SMART Domains

Protein: ENSMUSP00000020497
Gene: ENSMUSG00000020256
AA Change: D842Y

Domain	Start	End	E-Value	Type
Pfam:Formyl_trans_N	23	202	5e-46	PFAM
Pfam:Formyl_trans_C	226	330	1.3e-16	PFAM
Pfam:PP-binding	346	412	9.6e-7	PFAM
Pfam:Aldedh	451	919	3.4e-174	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000138858

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000141184

Predicted Effect

probably damaging
Transcript: ENSMUST00000146640
AA Change: D729Y

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

SMART Domains

Protein: ENSMUSP00000117076
Gene: ENSMUSG00000020256
AA Change: D729Y

Domain	Start	End	E-Value	Type
Pfam:Formyl_trans_N	1	89	2.8e-30	PFAM
Pfam:Formyl_trans_C	113	217	1.1e-16	PFAM
Pfam:PP-binding	233	299	1.5e-8	PFAM
Pfam:Aldedh	338	806	8.5e-175	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000147381

Coding Region Coverage

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of both the aldehyde dehydrogenase superfamily and the formyl transferase superfamily. This member is the mitochondrial form of 10-formyltetrahydrofolate dehydrogenase (FDH), which converts 10-formyltetrahydrofolate to tetrahydrofolate and CO2 in an NADP(+)-dependent reaction, and plays an essential role in the distribution of one-carbon groups between the cytosolic and mitochondrial compartments of the cell. Alternatively spliced transcript variants have been found for this gene.[provided by RefSeq, Oct 2010]

Allele List at MGI

Other mutations in this stock

Total: 46 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
6430573F11Rik	A	G	8: 36,512,347	K368R	probably benign	Het
Aco1	C	A	4: 40,181,380		probably null	Het
Acot6	T	C	12: 84,101,066	V32A	possibly damaging	Het
Aff3	A	T	1: 38,535,681	L73I	probably damaging	Het
Alox15	T	C	11: 70,345,166	Q525R	possibly damaging	Het
Atr	T	C	9: 95,865,624	Y320H	probably benign	Het
Atxn3	C	T	12: 101,934,423		probably benign	Het
Caprin2	C	A	6: 148,873,028	S262I	probably benign	Het
Ccar1	T	C	10: 62,776,874		probably null	Het
Ccdc14	T	A	16: 34,723,213	L647H	probably damaging	Het
Cd300lf	T	C	11: 115,126,350	D49G	probably benign	Het
Csmd2	A	G	4: 128,414,288	T1280A	probably benign	Het
Ddb1	T	C	19: 10,627,660		probably null	Het
Dnah9	A	G	11: 66,155,459	Y88H	probably damaging	Het
Enpp1	T	C	10: 24,664,614	T351A	probably damaging	Het
Evi2b	T	A	11: 79,516,623	Y42F	probably benign	Het
Fdps	A	T	3: 89,094,270	C274*	probably null	Het
Flnb	A	C	14: 7,934,562		probably null	Het
Herc1	T	A	9: 66,399,361	V917E	probably benign	Het
Hmcn2	C	T	2: 31,361,814	Q854*	probably null	Het
Hmgxb3	T	C	18: 61,146,434	Y769C	probably damaging	Het
Hps3	G	T	3: 20,003,305	Q772K	possibly damaging	Het
Ifnab	T	C	4: 88,690,750	S160G	probably damaging	Het
Kalrn	T	C	16: 34,262,629	E652G	probably damaging	Het
Kat6a	T	C	8: 22,907,700	L255S	probably damaging	Het
Kbtbd7	T	A	14: 79,428,046	D439E	possibly damaging	Het
Kcnn4	T	C	7: 24,381,703	F289L	probably benign	Het
Mapk6	A	C	9: 75,388,790	D475E	possibly damaging	Het
Msh5	A	G	17: 35,028,769	V825A	possibly damaging	Het
Mst1	A	G	9: 108,081,601	I111V	probably benign	Het
Myo1h	T	A	5: 114,348,439	I586N	probably damaging	Het
Olfr1280	G	T	2: 111,315,670	A64S	probably damaging	Het
Panx1	C	T	9: 15,021,465	V80M	probably damaging	Het
Polr3b	T	A	10: 84,695,669	I803N	probably benign	Het
Rasa4	T	C	5: 136,095,571	V158A	possibly damaging	Het
Rbp3	T	A	14: 33,954,188	M31K	possibly damaging	Het
Rpl3l	A	G	17: 24,732,430	K154E	probably benign	Het
Sec24a	A	T	11: 51,713,529		probably null	Het
Sox5	C	T	6: 144,116,472	M151I	probably damaging	Het
Sun1	T	A	5: 139,234,741	L290Q	probably damaging	Het
Tm9sf2	T	A	14: 122,143,460	I155N	probably damaging	Het
Tuft1	A	G	3: 94,635,503		probably benign	Het
Ubash3b	A	G	9: 41,018,015		probably null	Het
Vwa1	A	G	4: 155,770,743		probably null	Het
Wnk1	T	C	6: 119,937,411	E80G	probably damaging	Het
Xpot	C	A	10: 121,604,494	A611S	probably benign	Het

Other mutations in Aldh1l2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01152:Aldh1l2	APN	10	83522886	nonsense	probably null
IGL01154:Aldh1l2	APN	10	83520373	missense	probably damaging	1.00
IGL01301:Aldh1l2	APN	10	83522846	missense	probably damaging	1.00
IGL01354:Aldh1l2	APN	10	83527376	missense	probably damaging	1.00
IGL01445:Aldh1l2	APN	10	83520262	splice site	probably benign
IGL02179:Aldh1l2	APN	10	83522837	missense	probably benign	0.10
IGL02283:Aldh1l2	APN	10	83495895	missense	probably benign	0.00
IGL02507:Aldh1l2	APN	10	83492584	nonsense	probably null
IGL02727:Aldh1l2	APN	10	83506605	missense	probably damaging	1.00
IGL03353:Aldh1l2	APN	10	83522913	missense	probably benign	0.17
Hunger_winter	UTSW	10	83508013	critical splice donor site	probably null
Spartan	UTSW	10	83512306	missense	possibly damaging	0.93
ANU18:Aldh1l2	UTSW	10	83522846	missense	probably damaging	1.00
IGL02984:Aldh1l2	UTSW	10	83527335	missense	probably damaging	1.00
R0267:Aldh1l2	UTSW	10	83522687	splice site	probably benign
R0302:Aldh1l2	UTSW	10	83520365	missense	probably damaging	1.00
R0349:Aldh1l2	UTSW	10	83490614	missense	probably damaging	1.00
R0468:Aldh1l2	UTSW	10	83518678	missense	probably benign	0.01
R0745:Aldh1l2	UTSW	10	83518630	splice site	probably null
R0788:Aldh1l2	UTSW	10	83516164	missense	probably damaging	1.00
R1117:Aldh1l2	UTSW	10	83508623	missense	probably benign	0.01
R1241:Aldh1l2	UTSW	10	83496025	missense	probably benign	0.00
R1420:Aldh1l2	UTSW	10	83495935	missense	probably damaging	1.00
R1490:Aldh1l2	UTSW	10	83520370	missense	probably damaging	1.00
R1704:Aldh1l2	UTSW	10	83508660	missense	probably benign	0.10
R1729:Aldh1l2	UTSW	10	83508082	nonsense	probably null
R1893:Aldh1l2	UTSW	10	83492536	missense	probably damaging	1.00
R1897:Aldh1l2	UTSW	10	83502525	missense	probably damaging	1.00
R2047:Aldh1l2	UTSW	10	83506743	missense	probably damaging	1.00
R2290:Aldh1l2	UTSW	10	83527313	missense	probably damaging	1.00
R3054:Aldh1l2	UTSW	10	83502472	missense	probably benign	0.14
R3055:Aldh1l2	UTSW	10	83502472	missense	probably benign	0.14
R4097:Aldh1l2	UTSW	10	83512364	missense	probably damaging	0.98
R4162:Aldh1l2	UTSW	10	83506654	missense	possibly damaging	0.50
R4295:Aldh1l2	UTSW	10	83495920	missense	possibly damaging	0.62
R4296:Aldh1l2	UTSW	10	83522777	missense	probably benign	0.34
R4388:Aldh1l2	UTSW	10	83513622	missense	probably damaging	1.00
R4809:Aldh1l2	UTSW	10	83506632	missense	probably damaging	1.00
R5052:Aldh1l2	UTSW	10	83508692	missense	possibly damaging	0.92
R5421:Aldh1l2	UTSW	10	83527407	missense	probably damaging	1.00
R5491:Aldh1l2	UTSW	10	83522785	missense	probably benign	0.00
R5688:Aldh1l2	UTSW	10	83501925	missense	possibly damaging	0.93
R5726:Aldh1l2	UTSW	10	83512306	missense	possibly damaging	0.93
R5737:Aldh1l2	UTSW	10	83520325	missense	probably damaging	1.00
R5752:Aldh1l2	UTSW	10	83520380	missense	probably damaging	1.00
R6113:Aldh1l2	UTSW	10	83508134	nonsense	probably null
R6161:Aldh1l2	UTSW	10	83520338	missense	probably benign	0.00
R6166:Aldh1l2	UTSW	10	83493424	splice site	probably null
R6189:Aldh1l2	UTSW	10	83508013	critical splice donor site	probably null
R7357:Aldh1l2	UTSW	10	83514544	missense	possibly damaging	0.89
R7394:Aldh1l2	UTSW	10	83502457	missense	probably damaging	1.00
R7469:Aldh1l2	UTSW	10	83508105	missense	probably damaging	1.00
R7676:Aldh1l2	UTSW	10	83508111	missense	probably benign
R7848:Aldh1l2	UTSW	10	83499843	missense	probably benign	0.12
R7958:Aldh1l2	UTSW	10	83520338	missense	probably benign	0.00
R8311:Aldh1l2	UTSW	10	83490615	missense	probably damaging	1.00
R8477:Aldh1l2	UTSW	10	83501921	missense	probably damaging	1.00
R8730:Aldh1l2	UTSW	10	83506642	missense	possibly damaging	0.94
R8884:Aldh1l2	UTSW	10	83508677	missense	probably benign	0.02
R9117:Aldh1l2	UTSW	10	83506681	missense	probably benign	0.41
R9239:Aldh1l2	UTSW	10	83506632	missense	probably damaging	1.00
R9335:Aldh1l2	UTSW	10	83506646	missense	probably damaging	0.96
R9368:Aldh1l2	UTSW	10	83495952	nonsense	probably null
R9784:Aldh1l2	UTSW	10	83506750	critical splice acceptor site	probably null
Z1177:Aldh1l2	UTSW	10	83493480	missense	probably damaging	1.00
Z1177:Aldh1l2	UTSW	10	83534005	missense	probably benign

Posted On

2013-10-07