Mutagenetix > Incidental Mutation

Incidental Mutation 'R0468:Aldh1l2'

41756

Institutional Source

Beutler Lab

Gene Symbol

Aldh1l2

Ensembl Gene

ENSMUSG00000020256

Gene Name

aldehyde dehydrogenase 1 family, member L2

Synonyms

MMRRC Submission

038668-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R0468 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

83487450-83534140 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 83518678 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Aspartic acid at position 104 (E104D)

Ref Sequence

ENSEMBL: ENSMUSP00000117076 (fasta)

Gene Model

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

AlphaFold

Q8K009

Predicted Effect

probably benign
Transcript: ENSMUST00000020497
AA Change: E217D

PolyPhen 2 Score 0.007 (Sensitivity: 0.96; Specificity: 0.75)

SMART Domains

Protein: ENSMUSP00000020497
Gene: ENSMUSG00000020256
AA Change: E217D

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

probably benign
Transcript: ENSMUST00000146640
AA Change: E104D

PolyPhen 2 Score 0.007 (Sensitivity: 0.96; Specificity: 0.75)

SMART Domains

Protein: ENSMUSP00000117076
Gene: ENSMUSG00000020256
AA Change: E104D

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

0.0746

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 96.8%
20x: 94.2%

Validation Efficiency

100% (61/61)

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: 56 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2700049A03Rik	A	G	12: 71,193,310	H1298R	possibly damaging	Het
5530400C23Rik	T	C	6: 133,294,458	L155P	probably benign	Het
6820408C15Rik	A	T	2: 152,441,266	R283S	probably benign	Het
Anxa3	T	C	5: 96,811,099	V22A	probably benign	Het
Bcl7b	T	C	5: 135,180,883	F188L	probably benign	Het
Brinp1	T	A	4: 68,762,776	I506F	probably damaging	Het
Bsdc1	T	C	4: 129,461,718		probably benign	Het
Ccdc180	T	C	4: 45,923,271	I1075T	possibly damaging	Het
Cep162	A	G	9: 87,193,697	L1294P	probably damaging	Het
Cltc	G	A	11: 86,704,626		probably benign	Het
Col11a1	T	C	3: 114,217,058		probably benign	Het
Col14a1	A	T	15: 55,388,646	Y566F	unknown	Het
Dhx29	A	G	13: 112,963,277	Q1148R	probably benign	Het
Ehbp1	A	G	11: 22,169,184		probably benign	Het
Ehd3	A	G	17: 73,805,379	H46R	probably damaging	Het
Fam171a1	T	C	2: 3,225,396	V522A	probably benign	Het
Gm4553	C	A	7: 142,165,625	C22F	unknown	Het
Hibadh	C	T	6: 52,557,770		probably benign	Het
Hspg2	G	A	4: 137,533,529	C1613Y	probably damaging	Het
Hydin	G	T	8: 110,413,223	C708F	possibly damaging	Het
Ifi208	A	T	1: 173,683,481	M401L	probably benign	Het
Igsf8	G	A	1: 172,318,796	V454M	probably damaging	Het
Irx4	G	T	13: 73,266,720		probably benign	Het
Kcnh4	C	T	11: 100,746,932	G633E	probably benign	Het
Kcnn2	C	T	18: 45,559,471	T38M	possibly damaging	Het
L3mbtl3	C	T	10: 26,327,732	R400H	unknown	Het
Lrp6	T	C	6: 134,485,661	T679A	possibly damaging	Het
Map9	T	C	3: 82,374,203		probably null	Het
Men1	T	A	19: 6,336,923	V5E	probably null	Het
Mettl14	T	C	3: 123,371,412	D93G	probably damaging	Het
Neb	G	T	2: 52,211,556	R4601S	probably damaging	Het
Nell1	A	G	7: 50,228,846	T272A	probably damaging	Het
Olfr1115	A	T	2: 87,252,255	N106I	probably benign	Het
Olfr319	A	T	11: 58,701,793	I31F	probably damaging	Het
Pclo	C	A	5: 14,677,288		probably benign	Het
Pdia5	A	G	16: 35,397,507	L502P	probably damaging	Het
Pkd1l3	C	G	8: 109,623,649	D375E	possibly damaging	Het
Plxna4	C	A	6: 32,215,246	C803F	probably damaging	Het
Pmfbp1	A	G	8: 109,513,968		probably null	Het
Ptgs1	A	G	2: 36,249,193	Y468C	probably damaging	Het
Pxdn	G	T	12: 29,994,486	G488W	probably damaging	Het
Safb	C	T	17: 56,606,025	R914C	probably damaging	Het
Sec31b	T	A	19: 44,518,508		probably benign	Het
Shank3	G	A	15: 89,549,275	V1333I	probably benign	Het
Slamf1	A	G	1: 171,792,371		probably benign	Het
Slc23a3	T	A	1: 75,133,230	Q131L	possibly damaging	Het
Slc7a11	A	G	3: 50,384,051	V303A	probably damaging	Het
Slc7a13	T	A	4: 19,841,500	V449D	probably benign	Het
Srp68	A	T	11: 116,248,764	I453K	probably damaging	Het
Steap3	A	T	1: 120,234,300	V414D	probably damaging	Het
Tagln2	A	G	1: 172,506,221	N131D	probably benign	Het
Tmem132d	T	C	5: 128,269,203	Y85C	probably damaging	Het
Vcam1	A	T	3: 116,115,946	Y577*	probably null	Het
Vmn1r214	A	G	13: 23,035,253	T306A	probably benign	Het
Zfyve1	A	T	12: 83,555,274		probably benign	Het
Zgrf1	T	A	3: 127,562,041	N305K	possibly 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
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
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

Predicted Primers

PCR Primer
(F):5'- TCTTCCATCGGGGAAACGAGTGAG -3'
(R):5'- TGTTGGAGTGGGCACACCAAAG -3'

Sequencing Primer
(F):5'- GGACACACGTAGGGCCAG -3'
(R):5'- gagttatgggggggggg -3'

Posted On

2013-05-23