Mutagenetix > Incidental Mutation

Incidental Mutation 'R1490:Aldh1l2'

163660

Institutional Source

Beutler Lab

Gene Symbol

Aldh1l2

Ensembl Gene

ENSMUSG00000020256

Gene Name

aldehyde dehydrogenase 1 family, member L2

Synonyms

MMRRC Submission

039542-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R1490 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

83487450-83534140 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 83520370 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Isoleucine at position 52 (T52I)

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: T165I

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

SMART Domains

Protein: ENSMUSP00000020497
Gene: ENSMUSG00000020256
AA Change: T165I

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: T52I

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

SMART Domains

Protein: ENSMUSP00000117076
Gene: ENSMUSG00000020256
AA Change: T52I

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: 99.1%
3x: 98.4%
10x: 96.6%
20x: 93.6%

Validation Efficiency

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: 54 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700025F22Rik	A	G	19: 11,141,538	I69T	probably benign	Het
Arhgef28	G	A	13: 97,978,444	R633W	probably damaging	Het
Atg9a	T	C	1: 75,185,745	N507S	possibly damaging	Het
Bsn	A	G	9: 108,113,994	S1520P	probably benign	Het
Cacul1	G	T	19: 60,580,399	A107E	probably damaging	Het
Cd74	A	G	18: 60,811,366	D216G	probably damaging	Het
Cdh16	A	T	8: 104,622,070	W109R	probably damaging	Het
Cdip1	C	T	16: 4,768,911	V100I	probably damaging	Het
Ceacam3	A	G	7: 17,163,146	D679G	probably damaging	Het
Comp	A	G	8: 70,373,913	D46G	possibly damaging	Het
Dlx3	T	C	11: 95,120,604	Y95H	probably benign	Het
Dmrta2	T	C	4: 109,979,875	S5P	unknown	Het
E130308A19Rik	A	G	4: 59,719,746	Y426C	probably damaging	Het
Entpd3	A	G	9: 120,554,159	S87G	probably benign	Het
Eps8l1	A	G	7: 4,470,889	R232G	probably damaging	Het
Gart	A	T	16: 91,624,344	V812D	probably damaging	Het
Gm10153	C	T	7: 142,190,142	C83Y	unknown	Het
Gpd2	T	C	2: 57,355,475	V394A	probably damaging	Het
Hpcal1	A	T	12: 17,786,224	E18D	probably benign	Het
Mdga2	T	C	12: 66,797,756	D156G	probably benign	Het
Mks1	A	G	11: 87,862,769	K510E	probably benign	Het
Mtmr4	G	A	11: 87,612,225	R1035Q	probably damaging	Het
Myh6	T	A	14: 54,962,718	K235*	probably null	Het
Nedd1	A	G	10: 92,700,798	F214S	probably damaging	Het
Olfr166	T	C	16: 19,486,922	M28T	probably benign	Het
Olfr392	A	G	11: 73,814,371	V237A	possibly damaging	Het
Olfr672	A	G	7: 104,996,493	I137T	possibly damaging	Het
Olfr98	A	G	17: 37,262,842	M274T	probably benign	Het
Pfkfb2	A	C	1: 130,697,889		probably null	Het
Pfkfb4	T	C	9: 109,027,620	L398P	probably damaging	Het
Pfn3	T	G	13: 55,414,919	D83A	probably damaging	Het
Pi4ka	C	A	16: 17,386,268	W54L	probably damaging	Het
Ppp3r1	A	G	11: 17,198,275	D161G	probably benign	Het
Prrc2a	A	G	17: 35,153,254	S1757P	probably benign	Het
Samd7	A	G	3: 30,758,353	E314G	probably benign	Het
Slc17a4	A	G	13: 23,904,753	I217T	probably benign	Het
Slc22a1	A	T	17: 12,662,893		probably null	Het
Slc7a7	C	T	14: 54,408,646	R120H	probably damaging	Het
Sos1	A	T	17: 80,413,675	H905Q	probably benign	Het
Thada	G	A	17: 84,446,601	T314I	possibly damaging	Het
Tirap	ACTGCTGCTGCTGCTGCTG	ACTGCTGCTGCTGCTG	9: 35,189,066		probably benign	Het
Tlr11	A	C	14: 50,363,176	H873P	probably benign	Het
Tlr4	A	T	4: 66,839,374	T135S	possibly damaging	Het
Tmem116	T	C	5: 121,495,111	S183P	probably damaging	Het
Tubgcp3	A	T	8: 12,639,550	I572K	probably damaging	Het
Ugcg	C	T	4: 59,207,798	P46S	probably benign	Het
Ush2a	C	T	1: 188,359,841	T523I	probably benign	Het
Usp40	G	A	1: 87,988,965	Q364*	probably null	Het
Vmn1r61	T	C	7: 5,611,243	Q24R	probably benign	Het
Wdfy4	C	A	14: 33,152,538		probably null	Het
Zfp458	G	A	13: 67,257,509	P286S	probably damaging	Het
Zfp68	A	T	5: 138,606,829	C373S	probably benign	Het
Zfp768	T	A	7: 127,343,631	I442F	probably damaging	Het
Zfp990	A	G	4: 145,537,283	R284G	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
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'- ACGCTGATAACCCTGAGTTCTGCC -3'

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

Posted On

2014-03-28