Mutagenetix > Incidental Mutation

Incidental Mutation 'R8730:Aldh1l2'

662712

Institutional Source

Beutler Lab

Gene Symbol

Aldh1l2

Ensembl Gene

ENSMUSG00000020256

Gene Name

aldehyde dehydrogenase 1 family, member L2

Synonyms

MMRRC Submission

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R8730 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

83487450-83534140 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 83506642 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Valine to Methionine at position 548 (V548M)

Ref Sequence

ENSEMBL: ENSMUSP00000020497 (fasta)

Gene Model

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

AlphaFold

Q8K009

Predicted Effect

possibly damaging
Transcript: ENSMUST00000020497
AA Change: V548M

PolyPhen 2 Score 0.942 (Sensitivity: 0.80; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000020497
Gene: ENSMUSG00000020256
AA Change: V548M

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

possibly damaging
Transcript: ENSMUST00000146640
AA Change: V435M

PolyPhen 2 Score 0.942 (Sensitivity: 0.80; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000117076
Gene: ENSMUSG00000020256
AA Change: V435M

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.3%
20x: 97.3%

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: 55 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam22	A	C	5: 8,158,830	S200A	probably benign	Het
Adgrg3	G	A	8: 95,039,928	R409H	probably benign	Het
Ampd1	T	A	3: 103,085,360	C143*	probably null	Het
Angpt4	A	G	2: 151,929,547	Q261R	probably damaging	Het
Ccar1	T	C	10: 62,765,412	K491E	probably damaging	Het
Cd177	A	T	7: 24,758,076	M180K	possibly damaging	Het
Dcst2	C	T	3: 89,373,246	R620C	probably damaging	Het
Dcun1d4	T	A	5: 73,531,489		probably benign	Het
Dhrs1	T	A	14: 55,743,521	T103S	probably benign	Het
Dnah2	A	G	11: 69,493,261	L1043P	possibly damaging	Het
Eci3	A	T	13: 34,960,422	N19K	probably benign	Het
Ets1	A	T	9: 32,738,318	D317V	probably damaging	Het
Fem1c	T	C	18: 46,505,601	I445V	possibly damaging	Het
Gabpb1	T	C	2: 126,650,564	I176M	possibly damaging	Het
Gm6563	A	T	19: 23,676,065	K73I	probably damaging	Het
Grap2	A	G	15: 80,647,939	R252G	possibly damaging	Het
Gsx1	T	C	5: 147,189,841	L158P	probably damaging	Het
Hand2	T	A	8: 57,322,433	V176E	probably benign	Het
Hey2	G	T	10: 30,842,626	T8K	possibly damaging	Het
Igsf3	T	C	3: 101,427,216	I203T	probably benign	Het
Itgax	G	A	7: 128,139,894		probably null	Het
Kcnn2	A	G	18: 45,592,072	I212V	possibly damaging	Het
Kcnu1	G	T	8: 25,913,680	V740L	probably damaging	Het
Kcnv1	A	G	15: 45,109,401	I362T	probably damaging	Het
Klhdc9	C	T	1: 171,358,920	G316D	probably damaging	Het
Mcmbp	T	C	7: 128,716,014	E169G	probably damaging	Het
Muc20	G	T	16: 32,779,116	H645N	probably benign	Het
Nrm	A	G	17: 35,864,531	T52A	probably benign	Het
Olfr1202	T	A	2: 88,817,699	M176K	possibly damaging	Het
Olfr1288	T	A	2: 111,479,589	D268E	probably damaging	Het
Olfr131	A	T	17: 38,082,034	*315K	probably null	Het
Olfr295	A	G	7: 86,586,051	K259E	probably benign	Het
Olfr537-ps1	T	C	7: 140,539,284	S256P	unknown	Het
Olfr564	T	C	7: 102,804,141	V221A	probably benign	Het
Pde11a	A	T	2: 76,058,990	N713K	probably damaging	Het
Pfpl	T	C	19: 12,428,580	L65S	probably damaging	Het
Prox1	A	G	1: 190,162,041	V69A	possibly damaging	Het
Prss39	A	G	1: 34,500,117	H146R	probably damaging	Het
Pxt1	A	T	17: 28,934,728	F44I	possibly damaging	Het
Rbp3	A	G	14: 33,955,838	D581G	probably benign	Het
Rims2	A	G	15: 39,517,843	T1057A	probably benign	Het
Robo1	G	A	16: 72,989,607	G836R	probably benign	Het
Slc34a3	A	T	2: 25,232,045	S155T	possibly damaging	Het
Slc35d1	T	C	4: 103,173,754	Y308C		Het
Slfn9	T	C	11: 82,987,368	I312V	possibly damaging	Het
St3gal5	T	A	6: 72,153,477	L351Q	probably damaging	Het
Tanc1	A	G	2: 59,771,246	D157G	probably benign	Het
Tmprss11g	C	T	5: 86,490,978		probably null	Het
Tnpo1	A	T	13: 98,853,408	I745N	probably benign	Het
Uggt1	C	A	1: 36,197,543		probably null	Het
Ugt8a	G	A	3: 125,938,456		probably benign	Het
Urod	T	C	4: 116,993,532		probably benign	Het
Vmn1r211	A	T	13: 22,851,668	Y276*	probably null	Het
Vwa3a	T	A	7: 120,782,687	S582T	probably damaging	Het
Zfp869	A	T	8: 69,706,527	C465*	probably null	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
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
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'- AGGATCTCGAGTTGCTCCTCTC -3'
(R):5'- CCTATACAGGGCTGGCATAC -3'

Sequencing Primer
(F):5'- GGAGATAAGCTGCCATCTCAG -3'
(R):5'- TGGCATACCCAGCTGCTCTG -3'

Posted On

2021-03-08