Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02507:Aldh1l2'

296371

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 #

IGL02507

Quality Score

Status

Chromosome

Chromosomal Location

83487450-83534140 bp(-) (GRCm38)

Type of Mutation

nonsense

DNA Base Change (assembly)

A to C at 83492584 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Stop codon at position 756 (Y756*)

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 null
Transcript: ENSMUST00000020497
AA Change: Y869*

SMART Domains

Protein: ENSMUSP00000020497
Gene: ENSMUSG00000020256
AA Change: Y869*

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 null
Transcript: ENSMUST00000146640
AA Change: Y756*

SMART Domains

Protein: ENSMUSP00000117076
Gene: ENSMUSG00000020256
AA Change: Y756*

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: 49 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700023F06Rik	T	A	11: 103,199,449	Q287L	probably damaging	Het
Abca13	A	G	11: 9,399,388	Y3654C	probably damaging	Het
Arhgef12	T	C	9: 42,992,563	E733G	probably damaging	Het
Art5	A	T	7: 102,099,492	M1K	probably null	Het
Atp1a2	A	T	1: 172,285,771	D448E	probably damaging	Het
Atp6v1b1	C	T	6: 83,756,855	T356I	possibly damaging	Het
Celsr1	A	G	15: 85,900,688		probably benign	Het
Cep89	A	G	7: 35,435,565	Y686C	probably damaging	Het
Cgrrf1	T	A	14: 46,853,444	Y212*	probably null	Het
Chrnb1	T	C	11: 69,785,090	Y442C	probably damaging	Het
Clcn1	T	C	6: 42,307,073		probably benign	Het
Clcn7	G	A	17: 25,144,469	V40M	probably damaging	Het
Cntn1	A	G	15: 92,250,979	Y369C	possibly damaging	Het
Csmd1	T	C	8: 17,534,976		probably benign	Het
Dpy19l2	A	T	9: 24,631,267	C446S	probably benign	Het
Edem3	G	A	1: 151,811,656	E782K	probably benign	Het
Ephb3	T	A	16: 21,220,639		probably benign	Het
Fndc4	T	C	5: 31,294,746	D109G	probably damaging	Het
Fras1	T	C	5: 96,657,408	V1303A	possibly damaging	Het
Gcn1l1	T	C	5: 115,585,881	L532P	probably benign	Het
Gm5150	A	G	3: 15,963,321	L262P	probably damaging	Het
Hbb-bs	T	C	7: 103,827,884		probably benign	Het
Krt74	A	G	15: 101,760,624		noncoding transcript	Het
Myo1a	T	C	10: 127,712,609	V375A	probably damaging	Het
Nup160	A	T	2: 90,729,735	Q1268L	probably benign	Het
Olfr1155	G	A	2: 87,942,918	R237*	probably null	Het
Olfr1290	G	A	2: 111,489,423	T245M	possibly damaging	Het
Olfr1412	T	C	1: 92,588,926	S199P	possibly damaging	Het
Olfr610	G	T	7: 103,506,718	S76*	probably null	Het
Pan3	T	C	5: 147,526,596	S497P	probably damaging	Het
Pex5	T	C	6: 124,413,305	T138A	probably benign	Het
Pik3ap1	A	G	19: 41,282,012		probably benign	Het
Ptchd4	A	T	17: 42,316,873	H75L	possibly damaging	Het
Rag2	A	T	2: 101,630,710	H455L	probably damaging	Het
Rergl	T	A	6: 139,493,353	E159V	probably damaging	Het
Rrn3	A	G	16: 13,788,857	N109S	probably benign	Het
Scn1a	A	T	2: 66,277,813	V1523D	probably damaging	Het
Sec23a	A	G	12: 59,007,098	V38A	probably benign	Het
Slc15a2	G	A	16: 36,781,659	T92M	possibly damaging	Het
Slc2a2	A	G	3: 28,727,111	T433A	probably benign	Het
Sptan1	A	G	2: 30,016,055	D1671G	probably damaging	Het
Stab1	A	G	14: 31,139,210		probably benign	Het
Stau2	A	T	1: 16,486,069	I22N	possibly damaging	Het
Strn3	A	T	12: 51,661,627	Y123*	probably null	Het
Tmem205	A	G	9: 21,926,311	V13A	possibly damaging	Het
Trub1	G	A	19: 57,483,577		probably benign	Het
Ttn	A	G	2: 76,738,355	V27398A	possibly damaging	Het
Vill	A	G	9: 119,070,777	E343G	possibly damaging	Het
Zgpat	T	C	2: 181,366,236	F189L	probably damaging	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
IGL01364:Aldh1l2	APN	10	83492667	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
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

2015-04-16