Mutagenetix > Incidental Mutation

Incidental Mutation 'R2047:Aldh1l2'

222129

Institutional Source

Beutler Lab

Gene Symbol

Aldh1l2

Ensembl Gene

ENSMUSG00000020256

Gene Name

aldehyde dehydrogenase 1 family, member L2

Synonyms

MMRRC Submission

040054-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R2047 (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 83506743 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Alanine to Valine at position 401 (A401V)

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: A514V

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000020497
Gene: ENSMUSG00000020256
AA Change: A514V

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

probably damaging
Transcript: ENSMUST00000146640
AA Change: A401V

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000117076
Gene: ENSMUSG00000020256
AA Change: A401V

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

0.4097

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 97.0%
20x: 94.4%

Validation Efficiency

100% (57/57)

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
4933402N03Rik	A	G	7: 131,146,107	F52S	probably damaging	Het
Acot12	T	C	13: 91,783,003	S457P	probably damaging	Het
Adcy5	G	A	16: 35,290,108	V882M	possibly damaging	Het
Ahnak	A	G	19: 9,014,300	D4316G	possibly damaging	Het
Apol7e	A	G	15: 77,717,610	H136R	probably benign	Het
Arl5a	A	G	2: 52,412,060		probably null	Het
Asns	G	T	6: 7,680,093	A341E	probably damaging	Het
C7	A	G	15: 5,045,661	L183P	probably damaging	Het
Cacng2	C	T	15: 78,118,837	A19T	probably damaging	Het
Ccr4	A	G	9: 114,492,565	F144S	probably damaging	Het
Ckap2	A	G	8: 22,168,747	V660A	probably benign	Het
Cramp1l	A	T	17: 25,003,215	Y176*	probably null	Het
Dgki	A	G	6: 36,913,646	S922P	possibly damaging	Het
Drd5	C	T	5: 38,320,336	S224L	probably damaging	Het
Ei24	T	C	9: 36,780,163	K341E	probably benign	Het
Eno2	A	T	6: 124,767,696		probably benign	Het
Epb41l4a	T	C	18: 33,828,206	N425S	probably benign	Het
F13b	T	G	1: 139,508,223	C256G	probably damaging	Het
Gm6588	A	G	5: 112,450,709	N374S	probably benign	Het
Gp6	A	T	7: 4,373,271		probably benign	Het
H2-Q7	A	T	17: 35,440,147	R191S	probably damaging	Het
Ivns1abp	T	A	1: 151,351,631	S63R	possibly damaging	Het
Kcnj16	A	G	11: 111,025,120		probably null	Het
Lpcat4	T	C	2: 112,244,797		probably null	Het
Lrrc14b	T	C	13: 74,363,442	K173R	probably benign	Het
Maml3	C	A	3: 51,690,445	R939S	probably damaging	Het
Mrgpra2b	C	T	7: 47,464,160	V249I	probably benign	Het
Mrpl46	T	A	7: 78,781,564	Y82F	probably damaging	Het
Mthfs	T	A	9: 89,215,303	I71N	probably damaging	Het
Nectin4	T	C	1: 171,385,152	V351A	possibly damaging	Het
Npas3	T	C	12: 54,068,829	F827L	probably damaging	Het
Nrp1	G	A	8: 128,498,096		probably benign	Het
Ocln	C	A	13: 100,535,124	A242S	probably damaging	Het
Olfr1164	A	T	2: 88,093,893	N14K	probably benign	Het
Olfr288	T	A	15: 98,187,039	T253S	probably damaging	Het
Olfr309	G	A	7: 86,306,804	T103I	probably damaging	Het
Pappa	T	C	4: 65,231,141		probably benign	Het
Ptpn6	T	C	6: 124,721,789	T480A	probably benign	Het
Pycr1	A	T	11: 120,641,686	D168E	possibly damaging	Het
Rnf6	T	C	5: 146,211,864	T126A	probably damaging	Het
Slc25a39	G	A	11: 102,405,831		probably benign	Het
Slc35f4	G	T	14: 49,303,572		probably benign	Het
Sppl2a	C	T	2: 126,926,852	A112T	probably damaging	Het
Sptbn1	A	C	11: 30,138,360		probably benign	Het
Sqle	T	C	15: 59,326,058	Y376H	probably benign	Het
Terb1	A	T	8: 104,485,462	Y296N	probably damaging	Het
Ttbk2	T	C	2: 120,748,916	H506R	probably damaging	Het
Ttn	T	C	2: 76,907,535	D4220G	probably benign	Het
Tub	A	G	7: 109,026,732	D230G	probably benign	Het
Ube2d3	T	A	3: 135,465,206	I137K	probably benign	Het
Vldlr	G	T	19: 27,234,838	C84F	probably damaging	Het
Vmn1r54	A	T	6: 90,269,988	I295F	probably damaging	Het
Vmn2r56	A	G	7: 12,732,991	S39P	probably damaging	Het
Zfp358	A	G	8: 3,495,934	H172R	probably damaging	Het
Zfp619	T	C	7: 39,537,638	C1031R	probably damaging	Het
Zfp777	A	G	6: 48,044,346	I114T	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
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'- ACCTTGAGGCCATTTTCCTG -3'
(R):5'- ACACGCTGGGGACTTAGTTG -3'

Sequencing Primer
(F):5'- CTGTGGGAAGGAGGAGCTTCC -3'
(R):5'- GTAGAGCACTCACCTAACATGTGTG -3'

Posted On

2014-08-25