Mutagenetix > Incidental Mutation

Incidental Mutation 'R5752:Aldh1l2'

444854

Institutional Source

Beutler Lab

Gene Symbol

Aldh1l2

Ensembl Gene

ENSMUSG00000020256

Gene Name

aldehyde dehydrogenase 1 family, member L2

Synonyms

MMRRC Submission

043357-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R5752 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

83487450-83534140 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 83520380 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Glycine to Cysteine at position 49 (G49C)

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: G162C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000020497
Gene: ENSMUSG00000020256
AA Change: G162C

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: G49C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000117076
Gene: ENSMUSG00000020256
AA Change: G49C

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

0.9467

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.6%
20x: 96.1%

Validation Efficiency

98% (58/59)

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: 52 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700014D04Rik	T	C	13: 59,743,202	Y268C	probably damaging	Het
A330017A19Rik	C	A	17: 46,890,040		probably benign	Het
Arhgap26	G	A	18: 39,286,672	E11K	probably damaging	Het
Asns	C	T	6: 7,689,365	G46S	probably damaging	Het
Atrn	G	T	2: 130,906,544		probably benign	Het
C77080	GGTG	GGTGTG	4: 129,223,980		probably null	Het
Cep126	A	C	9: 8,120,745	Y92*	probably null	Het
Cfap69	T	C	5: 5,589,204	T567A	probably damaging	Het
Clgn	T	A	8: 83,397,041	Y61N	probably damaging	Het
Col28a1	T	G	6: 8,015,025	K793N	possibly damaging	Het
Cxcl9	C	A	5: 92,323,856	M108I	probably benign	Het
Cyp4f37	A	T	17: 32,631,332	I318F	probably damaging	Het
Daam1	T	C	12: 71,946,546	M363T	unknown	Het
Dnajc13	A	C	9: 104,192,774		probably null	Het
Entpd2	G	A	2: 25,399,769		probably benign	Het
F3	T	A	3: 121,732,404	N205K	probably damaging	Het
Fat2	A	T	11: 55,289,237	F1426Y	possibly damaging	Het
Galnt6	A	T	15: 100,704,126	F267I	probably damaging	Het
Gm1322	G	A	2: 67,184,635		noncoding transcript	Het
Gm6768	A	G	12: 119,262,614		noncoding transcript	Het
Gm960	C	A	19: 4,626,020	A695S	probably benign	Het
Hdgfl3	A	C	7: 81,899,703	S143A	possibly damaging	Het
Ints7	T	A	1: 191,575,893	D12E	probably benign	Het
Kank3	A	G	17: 33,818,063	T114A	probably benign	Het
Lrp1b	A	G	2: 41,295,612	Y1364H	probably damaging	Het
Mef2b	A	G	8: 70,165,617	T116A	possibly damaging	Het
Megf8	C	T	7: 25,355,114	T1885I	probably damaging	Het
Mrps11	A	G	7: 78,783,595	K30E	probably benign	Het
Naca	T	A	10: 128,041,928		probably benign	Het
Olfr521	T	C	7: 99,767,948	I262T	probably benign	Het
Paip2b	C	T	6: 83,831,270		probably null	Het
Plcb2	G	T	2: 118,711,051		probably benign	Het
Plcd4	A	G	1: 74,547,972		probably null	Het
Pnpla8	A	G	12: 44,282,887	N74S	probably benign	Het
Pot1b	A	T	17: 55,687,834	I276N	probably damaging	Het
Qprt	C	T	7: 127,109,244	G5D	probably benign	Het
Rab11fip1	T	C	8: 27,156,586	N154S	probably damaging	Het
Rin3	G	A	12: 102,313,119		probably benign	Het
Sdf4	C	T	4: 155,996,304	P37S	probably damaging	Het
Selp	A	T	1: 164,137,242	D491V	probably damaging	Het
Sh3gl3	A	G	7: 82,174,948		probably benign	Het
Sp110	G	C	1: 85,577,202		probably benign	Het
Tas2r134	A	G	2: 51,627,868	R120G	probably damaging	Het
Tgfbr3	T	C	5: 107,139,807	R509G	probably benign	Het
Tle3	T	A	9: 61,407,471	Y231N	probably damaging	Het
Ttc41	C	T	10: 86,758,346	T881I	probably benign	Het
Ttll8	T	C	15: 88,932,728	Y271C	probably benign	Het
Ttn	A	T	2: 76,947,984	I1307K	possibly damaging	Het
Ube2k	A	G	5: 65,566,068	D48G	probably damaging	Het
Vcan	T	C	13: 89,679,950	T3126A	probably damaging	Het
Vps13d	T	C	4: 145,148,970	T1656A	probably benign	Het
Zzz3	C	A	3: 152,452,122	S777R	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
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
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'- TACATTACAGCCATGTGCCAC -3'
(R):5'- TGAGTTCTGCCAGGAACATC -3'

Sequencing Primer
(F):5'- CCTGGCTTGGCAAATTTGAAAAACAG -3'
(R):5'- GGAACATCTGTAGGCCACTATCTG -3'

Posted On

2016-11-21