Mutagenetix > Incidental Mutation

Incidental Mutation 'R0302:Aldh1l2'

24860

Institutional Source

Beutler Lab

Gene Symbol

Aldh1l2

Ensembl Gene

ENSMUSG00000020256

Gene Name

aldehyde dehydrogenase 1 family, member L2

Synonyms

MMRRC Submission

038514-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R0302 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

83487450-83534140 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 83520365 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Proline to Serine at position 54 (P54S)

Ref Sequence

ENSEMBL: ENSMUSP00000117076 (fasta)

Gene Model

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

AlphaFold

Q8K009

Predicted Effect

probably damaging
Transcript: ENSMUST00000020497
AA Change: P167S

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000020497
Gene: ENSMUSG00000020256
AA Change: P167S

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

probably damaging
Transcript: ENSMUST00000146640
AA Change: P54S

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000117076
Gene: ENSMUSG00000020256
AA Change: P54S

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

0.8256

Coding Region Coverage

1x: 98.8%
3x: 97.8%
10x: 95.1%
20x: 89.5%

Validation Efficiency

100% (63/63)

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: 63 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adprhl2	T	C	4: 126,317,392	E244G	probably benign	Het
Ankdd1a	G	A	9: 65,509,642		probably benign	Het
Ankra2	T	A	13: 98,271,692	S216R	probably damaging	Het
Asah2	A	T	19: 32,052,956	N105K	probably benign	Het
Ass1	A	T	2: 31,514,819	N371Y	probably damaging	Het
Cacna1s	A	G	1: 136,100,604	Y893C	probably benign	Het
Capza2	G	A	6: 17,648,524	R15H	probably benign	Het
Cbfa2t2	T	C	2: 154,534,876		probably benign	Het
Ccdc96	A	T	5: 36,486,101	T484S	possibly damaging	Het
Cckar	GCTTAGCCTCTTCT	GCT	5: 53,700,299		probably null	Het
Ccl4	T	A	11: 83,663,454		probably benign	Het
Cpt1b	A	G	15: 89,417,870	Y702H	probably benign	Het
Cr1l	G	A	1: 195,117,793	T153I	probably damaging	Het
Cyth2	C	A	7: 45,810,585	E57*	probably null	Het
Daxx	T	A	17: 33,913,620	S575T	probably damaging	Het
Depdc5	T	C	5: 32,904,546		probably benign	Het
Dnah12	A	G	14: 26,799,999	D1923G	probably damaging	Het
Dnah7b	A	G	1: 46,123,777	T428A	probably benign	Het
Dnm2	G	T	9: 21,500,343	A619S	probably benign	Het
Enpp2	T	C	15: 54,860,061	T639A	probably benign	Het
Epsti1	A	T	14: 77,939,926	H182L	probably damaging	Het
Exoc3l	C	T	8: 105,293,543	R250Q	probably benign	Het
Ggn	G	T	7: 29,171,240		probably null	Het
Il1rap	A	G	16: 26,692,794	N196S	probably benign	Het
Ints6	T	C	14: 62,709,512	T335A	probably damaging	Het
Itga1	G	A	13: 115,012,318		probably benign	Het
Kifc3	G	T	8: 95,103,470	Q557K	possibly damaging	Het
Krt23	A	G	11: 99,478,201	I422T	probably benign	Het
Lcn2	A	G	2: 32,384,889		probably benign	Het
Lonp2	A	G	8: 86,637,991	T326A	possibly damaging	Het
Lrpprc	T	C	17: 84,740,078	I909V	possibly damaging	Het
Lrrc14	G	T	15: 76,714,352	R396L	probably benign	Het
Lypd6	T	G	2: 50,165,667		probably benign	Het
Man2b1	A	G	8: 85,093,016	N610S	probably damaging	Het
Map2	A	T	1: 66,414,828	N959I	probably benign	Het
Mctp2	C	T	7: 72,090,264	V793I	possibly damaging	Het
Med25	A	C	7: 44,880,558		probably benign	Het
Mfsd6	T	C	1: 52,709,457	Y83C	probably damaging	Het
Mtbp	A	T	15: 55,625,424	M499L	probably damaging	Het
Mtmr10	A	T	7: 64,297,497	K53N	probably damaging	Het
Nfat5	T	C	8: 107,358,701	I542T	probably damaging	Het
Nr1h3	A	G	2: 91,192,013	M90T	probably damaging	Het
Nsmce4a	A	G	7: 130,545,893		probably benign	Het
Olfr1168	T	A	2: 88,185,510	I211N	possibly damaging	Het
Oprl1	G	A	2: 181,719,228	C318Y	probably benign	Het
Pbx3	A	T	2: 34,224,560	S46T	probably benign	Het
Pign	A	T	1: 105,589,093	F575I	possibly damaging	Het
Ptpn13	G	T	5: 103,565,225	S1738I	probably benign	Het
Rnf126	G	T	10: 79,759,223	P269Q	probably damaging	Het
Ryr3	G	A	2: 112,647,123		probably benign	Het
Slc2a7	C	T	4: 150,149,521	A31V	probably damaging	Het
Slc6a12	A	G	6: 121,363,259	D487G	probably damaging	Het
Son	G	T	16: 91,656,144	G593V	probably damaging	Het
Spata31d1a	T	C	13: 59,703,150	N388S	probably benign	Het
Spg11	A	T	2: 122,092,187	M927K	possibly damaging	Het
Taf13	A	G	3: 108,571,722	M1V	probably null	Het
Trim32	G	A	4: 65,613,254	R16Q	probably damaging	Het
Trio	A	G	15: 27,902,517	F286S	probably damaging	Het
Trpm2	A	C	10: 77,943,990		probably benign	Het
Ttc7b	T	C	12: 100,387,179	M390V	possibly damaging	Het
Vmn1r184	A	T	7: 26,267,543	Q238L	probably damaging	Het
Zfp236	T	C	18: 82,658,088	E368G	probably damaging	Het
Zfr2	G	T	10: 81,251,336		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
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

Predicted Primers

PCR Primer
(F):5'- ATTACAGCCATGTGCCACCATGCC -3'
(R):5'- TGCTCTCTACGAACGCTGATAACCC -3'

Sequencing Primer
(F):5'- CCACCATGCCTGGCTTG -3'
(R):5'- TGAGTTCTGCCAGGAACATC -3'

Posted On

2013-04-16