Mutagenetix > Incidental Mutation

Incidental Mutation 'R5726:Aldh1l2'

452500

Institutional Source

Beutler Lab

Gene Symbol

Aldh1l2

Ensembl Gene

ENSMUSG00000020256

Gene Name

aldehyde dehydrogenase 1 family, member L2

Synonyms

MMRRC Submission

043344-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R5726 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

83487450-83534140 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 83512306 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Glycine at position 311 (E311G)

Ref Sequence

ENSEMBL: ENSMUSP00000117076 (fasta)

Gene Model

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

AlphaFold

Q8K009

Predicted Effect

possibly damaging
Transcript: ENSMUST00000020497
AA Change: E424G

PolyPhen 2 Score 0.934 (Sensitivity: 0.80; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000020497
Gene: ENSMUSG00000020256
AA Change: E424G

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: ENSMUST00000125193

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000138858

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000143793

Predicted Effect

possibly damaging
Transcript: ENSMUST00000146640
AA Change: E311G

PolyPhen 2 Score 0.934 (Sensitivity: 0.80; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000117076
Gene: ENSMUSG00000020256
AA Change: E311G

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

Meta Mutation Damage Score

0.2701

Coding Region Coverage

1x: 99.1%
3x: 98.4%
10x: 96.6%
20x: 93.3%

Validation Efficiency

100% (72/72)

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: 66 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
9130023H24Rik	T	C	7: 128,236,660	K254E	probably damaging	Het
Aak1	C	T	6: 86,925,124	Q92*	probably null	Het
Acss3	T	C	10: 107,123,322	T88A	possibly damaging	Het
Adcy4	A	T	14: 55,783,661	S6R	probably damaging	Het
Arhgap25	C	T	6: 87,463,459	S402N	probably benign	Het
Btn1a1	T	A	13: 23,459,352	D309V	probably damaging	Het
Cdh23	C	T	10: 60,407,480	V1037M	probably damaging	Het
Clcn2	T	C	16: 20,710,535		probably benign	Het
Cln3	T	C	7: 126,575,501	T276A	probably null	Het
CN725425	A	G	15: 91,260,503	E523G	possibly damaging	Het
Cspg4	A	T	9: 56,885,904	T308S	probably damaging	Het
Dgkh	G	T	14: 78,624,902	F208L	probably benign	Het
Eif2ak4	A	G	2: 118,443,132	D846G	probably damaging	Het
Fmo4	A	G	1: 162,808,259		probably null	Het
Foxp4	A	G	17: 47,869,108	Y623H	unknown	Het
Fxr2	T	C	11: 69,633,346	V10A	probably benign	Het
Gm10271	T	C	10: 116,956,887		probably null	Het
Gsk3b	T	C	16: 38,208,136		probably benign	Het
Ift43	T	A	12: 86,162,183	D169E	probably damaging	Het
Ift57	T	A	16: 49,699,498	L54H	probably damaging	Het
Ighv1-37	T	C	12: 114,896,674		probably benign	Het
Ispd	T	C	12: 36,547,830	V320A	probably damaging	Het
Kl	A	G	5: 150,991,538	N910S	possibly damaging	Het
Lrp2	T	C	2: 69,509,147	D1140G	probably damaging	Het
Map1a	G	A	2: 121,305,065	A1883T	probably damaging	Het
Map4k2	G	T	19: 6,351,332	G611C	probably damaging	Het
Mical1	A	G	10: 41,483,696		probably benign	Het
Myh14	A	G	7: 44,643,462		probably null	Het
Myh8	T	A	11: 67,294,566	V881D	possibly damaging	Het
Myo1g	G	T	11: 6,509,420	Q817K	probably benign	Het
Nin	A	C	12: 70,078,179	V123G	probably damaging	Het
Nup160	A	G	2: 90,717,851	D976G	probably damaging	Het
Nup210l	A	T	3: 90,129,207		probably null	Het
Olfr262	A	G	19: 12,241,280	I127T	probably damaging	Het
Phf14	T	C	6: 11,933,538		probably benign	Het
Podxl2	T	C	6: 88,848,739	D400G	probably damaging	Het
Pygl	C	T	12: 70,191,142	W707*	probably null	Het
Rnf19b	T	C	4: 129,071,892	V261A	possibly damaging	Het
Rnf213	A	G	11: 119,416,458	Y648C	probably damaging	Het
Scn5a	C	T	9: 119,533,847	R569H	probably damaging	Het
Sdk2	A	G	11: 113,851,800	L761P	probably damaging	Het
Shroom3	C	T	5: 92,943,005	P1124S	probably benign	Het
Sirt4	A	G	5: 115,479,646	V317A	probably benign	Het
Slc12a2	G	T	18: 57,896,354	A271S	probably benign	Het
Slc6a9	A	G	4: 117,864,013	Y208C	probably damaging	Het
Snap23	T	A	2: 120,584,271		probably benign	Het
Sra1	C	T	18: 36,670,173		probably benign	Het
Srbd1	C	T	17: 86,120,729	D359N	possibly damaging	Het
Srp19	A	G	18: 34,331,773	Y22C	probably damaging	Het
Sstr4	T	C	2: 148,396,083	S205P	probably damaging	Het
Sv2b	T	C	7: 75,124,214	D503G	possibly damaging	Het
Tbc1d30	C	T	10: 121,267,574	V518M	probably damaging	Het
Tlr4	A	G	4: 66,840,415	K482E	probably benign	Het
Tpm1	G	A	9: 67,023,412	L310F	probably damaging	Het
Trpm6	A	G	19: 18,853,617	Y1282C	probably damaging	Het
Tsc22d1	T	A	14: 76,505,317	L65*	probably null	Het
Ttc37	T	C	13: 76,118,347	Y238H	probably damaging	Het
Ttc39c	C	A	18: 12,697,935	A284D	probably damaging	Het
Txndc16	G	A	14: 45,165,764	H297Y	probably benign	Het
Utrn	A	T	10: 12,669,806	D1698E	probably benign	Het
Vmn1r232	C	T	17: 20,913,339	R333H	probably benign	Het
Vmn2r14	A	T	5: 109,217,620	D529E	possibly damaging	Het
Vmn2r70	C	T	7: 85,559,107	V721I	probably damaging	Het
Zbtb18	A	G	1: 177,448,553	H484R	probably damaging	Het
Zc3h13	T	A	14: 75,330,829	S1187R	possibly damaging	Het
Zfhx4	T	A	3: 5,403,321	D2846E	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
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
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
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

Predicted Primers

PCR Primer
(F):5'- GCTCAGCTGTATACCTCTAAATTCAG -3'
(R):5'- ATGCCAGTGAACAGGCCATG -3'

Sequencing Primer
(F):5'- TGGAACTCACTCTGTAGACCAGG -3'
(R):5'- CAGTGAACAGGCCATGAGGAAAC -3'

Posted On

2017-01-03