Mutagenetix > Incidental Mutation

Incidental Mutation 'R6113:Aldh1l2'

484964

Institutional Source

Beutler Lab

Gene Symbol

Aldh1l2

Ensembl Gene

ENSMUSG00000020256

Gene Name

aldehyde dehydrogenase 1 family, member L2

Synonyms

MMRRC Submission

044262-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R6113 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

83487450-83534140 bp(-) (GRCm38)

Type of Mutation

nonsense

DNA Base Change (assembly)

G to T at 83508134 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Cysteine to Stop codon at position 359 (C359*)

Ref Sequence

ENSEMBL: ENSMUSP00000117076 (fasta)

Gene Model

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

AlphaFold

Q8K009

Predicted Effect

probably null
Transcript: ENSMUST00000020497
AA Change: C472*

SMART Domains

Protein: ENSMUSP00000020497
Gene: ENSMUSG00000020256
AA Change: C472*

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 null
Transcript: ENSMUST00000146640
AA Change: C359*

SMART Domains

Protein: ENSMUSP00000117076
Gene: ENSMUSG00000020256
AA Change: C359*

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

0.9755

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 97.9%
20x: 94.1%

Validation Efficiency

100% (58/58)

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: 59 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abat	C	A	16: 8,572,900	T7N	probably benign	Het
Bpifb6	G	A	2: 153,910,731	E384K	probably benign	Het
Chtf18	G	A	17: 25,722,867	R544C	probably damaging	Het
Cilp2	T	C	8: 69,882,359	D663G	probably benign	Het
Cplx3	T	A	9: 57,602,440	I92F	probably damaging	Het
Cr1l	T	C	1: 195,131,411		probably benign	Het
Cyp1a1	T	A	9: 57,701,891	F323I	probably damaging	Het
Dclk1	T	C	3: 55,489,819	Y186H	probably benign	Het
Dclre1c	T	C	2: 3,452,863	L261P	probably damaging	Het
Dcst2	T	C	3: 89,367,885	S312P	possibly damaging	Het
Diexf	T	C	1: 193,129,502	I46V	probably null	Het
Dnah17	A	G	11: 118,126,275	L213P	probably damaging	Het
Dnd1	T	A	18: 36,765,395	Y102F	probably damaging	Het
Dnm1l	T	C	16: 16,341,003	N121S	probably benign	Het
Dsp	T	A	13: 38,192,047	N1269K	probably damaging	Het
Dync1h1	T	C	12: 110,620,414	V943A	probably benign	Het
Eml5	T	A	12: 98,824,674	K1322*	probably null	Het
Fam173b	T	C	15: 31,608,162	Y120H	probably damaging	Het
Fgf23	A	G	6: 127,078,154	T76A	probably benign	Het
Fgf6	T	C	6: 127,015,937		probably null	Het
Fkbp15	G	A	4: 62,340,647	T124I	probably benign	Het
Gm12185	A	T	11: 48,915,340	H341Q	possibly damaging	Het
Gm20647	A	G	5: 72,329,800		probably benign	Het
Lrp2	G	C	2: 69,483,557	R2277G	possibly damaging	Het
Lrrc69	T	C	4: 14,708,673	T224A	probably benign	Het
Ly75	T	G	2: 60,368,873	I175L	probably benign	Het
Morc2b	G	T	17: 33,138,068	Y243*	probably null	Het
Myo18b	C	G	5: 112,866,385	D764H	probably damaging	Het
Naip6	T	C	13: 100,299,286	S910G	possibly damaging	Het
Nbeal1	T	A	1: 60,222,263	I21N	possibly damaging	Het
P3h2	A	T	16: 25,981,153	I430K	probably benign	Het
Pcdh9	A	G	14: 93,887,108	V542A	probably damaging	Het
Pkp3	T	A	7: 141,082,656	N60K	probably damaging	Het
Pold1	C	A	7: 44,537,700	G686C	probably damaging	Het
Prdm6	T	A	18: 53,473,601	L58Q	probably damaging	Het
Rab13	C	A	3: 90,224,866	R86S	probably benign	Het
Rad21l	A	C	2: 151,657,478	L265V	probably damaging	Het
Rec8	G	A	14: 55,622,478	A228T	probably damaging	Het
Rgs12	C	A	5: 35,020,323	R76S	probably damaging	Het
Sfmbt1	A	G	14: 30,815,184	N670D	possibly damaging	Het
Slc17a7	A	G	7: 45,174,751	T464A	possibly damaging	Het
Srcap	C	A	7: 127,560,281		probably benign	Het
Srgap2	A	T	1: 131,355,505		probably null	Het
Tenm1	C	T	X: 42,827,195	G404E	probably damaging	Het
Thpo	C	A	16: 20,728,847		probably benign	Het
Tle4	A	T	19: 14,595,588		probably null	Het
Tnfrsf14	T	C	4: 154,924,492	Q74R	possibly damaging	Het
Trav15-2-dv6-2	T	G	14: 53,649,725	V34G	probably benign	Het
Trbv13-1	C	T	6: 41,116,379	A82V	probably benign	Het
Trib1	C	T	15: 59,651,638	R174*	probably null	Het
Trpv3	G	A	11: 73,286,018	V408I	probably benign	Het
Tyk2	A	T	9: 21,107,922	V1068E	probably damaging	Het
Usp35	A	G	7: 97,324,326	S230P	probably damaging	Het
Vav1	T	A	17: 57,301,884	D349E	probably benign	Het
Vcan	T	A	13: 89,657,536	R114*	probably null	Het
Vmn1r25	T	C	6: 57,978,572	E244G	probably benign	Het
Vmn2r5	T	C	3: 64,491,399	T720A	probably benign	Het
Wdr72	T	A	9: 74,152,641	D444E	probably benign	Het
Zfhx3	T	A	8: 108,947,421	M1701K	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
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
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'- ATGCACAGCTATGGACCTTG -3'
(R):5'- CCAAGATCAGGTTGTTTCCATG -3'

Sequencing Primer
(F):5'- ACAGCTATGGACCTTGCCTCC -3'
(R):5'- AAGATCAGGTTGTTTCCATGTGTCTC -3'

Posted On

2017-08-16