Mutagenetix > Incidental Mutation

Incidental Mutation 'R1704:Aldh1l2'

189979

Institutional Source

Beutler Lab

Gene Symbol

Aldh1l2

Ensembl Gene

ENSMUSG00000020256

Gene Name

aldehyde dehydrogenase 1 family, member L2

Synonyms

MMRRC Submission

039737-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R1704 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

83487450-83534140 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 83508660 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Alanine to Threonine at position 341 (A341T)

Ref Sequence

ENSEMBL: ENSMUSP00000117076 (fasta)

Gene Model

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

AlphaFold

Q8K009

Predicted Effect

probably benign
Transcript: ENSMUST00000020497
AA Change: A454T

PolyPhen 2 Score 0.097 (Sensitivity: 0.93; Specificity: 0.85)

SMART Domains

Protein: ENSMUSP00000020497
Gene: ENSMUSG00000020256
AA Change: A454T

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 benign
Transcript: ENSMUST00000146640
AA Change: A341T

PolyPhen 2 Score 0.097 (Sensitivity: 0.93; Specificity: 0.85)

SMART Domains

Protein: ENSMUSP00000117076
Gene: ENSMUSG00000020256
AA Change: A341T

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: 96.5%
20x: 93.2%

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: 49 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adad1	C	T	3: 37,092,015	H511Y	probably benign	Het
Apon	T	C	10: 128,254,996	F181S	probably damaging	Het
Avpr1b	T	A	1: 131,609,504	L342Q	possibly damaging	Het
Cacna1c	A	T	6: 118,602,146	H1810Q	probably benign	Het
Camta1	T	C	4: 151,075,224	Y1593C	probably damaging	Het
Cdh23	T	A	10: 60,314,611	I2527F	probably damaging	Het
Cep192	T	A	18: 67,856,256	S1825T	probably damaging	Het
Cntnap4	T	A	8: 112,757,523	W403R	probably damaging	Het
D630045J12Rik	G	A	6: 38,139,427	P1753S	probably benign	Het
Dsg4	T	C	18: 20,471,589	Y1038H	probably damaging	Het
Fat1	C	T	8: 45,025,576	T2553I	probably damaging	Het
Fem1c	A	T	18: 46,506,196	N246K	probably benign	Het
Frmd8	T	A	19: 5,869,482	Q179L	probably benign	Het
Gbp10	A	G	5: 105,224,351	F181S	probably damaging	Het
Hfe	T	C	13: 23,704,408	Y265C	probably damaging	Het
Ispd	A	G	12: 36,521,494	E279G	probably benign	Het
Kifap3	A	G	1: 163,829,196	N362D	possibly damaging	Het
Lima1	A	G	15: 99,819,736	F130L	probably benign	Het
Lipo1	A	T	19: 33,780,343	V242E	possibly damaging	Het
Nf1	T	A	11: 79,463,301		probably null	Het
Nos1ap	C	G	1: 170,338,212	E161Q	probably damaging	Het
Olfr224	A	T	11: 58,566,754	M197K	probably damaging	Het
Olfr357	A	T	2: 36,996,884	I25F	probably benign	Het
Pde4dip	C	T	3: 97,754,260	V611I	probably benign	Het
Pdk2	T	C	11: 95,028,550	I300V	possibly damaging	Het
Polr2b	A	G	5: 77,342,560	D849G	possibly damaging	Het
Polr3a	G	A	14: 24,484,120	Q106*	probably null	Het
Prr14l	G	T	5: 32,830,282	A623D	probably benign	Het
Rab43	A	C	6: 87,811,381		probably null	Het
Sart3	G	A	5: 113,746,007	T648M	probably benign	Het
Scn10a	T	C	9: 119,609,394	D1803G	probably damaging	Het
Sec11a	A	T	7: 80,935,100	S30T	possibly damaging	Het
Sez6l2	G	A	7: 126,958,341	G309E	probably damaging	Het
Snx14	A	C	9: 88,413,538	D191E	probably damaging	Het
Sox6	A	T	7: 115,476,948	N777K	possibly damaging	Het
Susd4	A	G	1: 182,854,113	N173S	probably damaging	Het
Tex10	C	T	4: 48,456,800	R637Q	probably benign	Het
Tgfbrap1	G	T	1: 43,054,656	Q559K	probably benign	Het
Tmco1	T	C	1: 167,325,937	S129P	possibly damaging	Het
Tmprss11a	T	C	5: 86,428,702	T97A	probably benign	Het
Tnni3k	G	A	3: 154,827,508	A774V	probably benign	Het
Tshz3	T	C	7: 36,771,360	S925P	possibly damaging	Het
Ush2a	T	C	1: 188,821,796	V3494A	probably damaging	Het
Vmn2r9	T	C	5: 108,846,400	D461G	probably damaging	Het
Zan	A	T	5: 137,434,002	C2344*	probably null	Het
Zfp629	A	G	7: 127,610,864	I591T	probably benign	Het
Zfp955a	G	A	17: 33,241,725	R478*	probably null	Het
Zmym1	A	T	4: 127,048,384	I737N	probably damaging	Het
Zranb3	T	C	1: 128,092,003	M1V	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
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'- TGCCATGAGTCTGAAGTACACCCC -3'
(R):5'- GAATCCCACCAAGCTGACCTCTTTC -3'

Sequencing Primer
(F):5'- CTGCTAGGCACTGATCTAAATTC -3'
(R):5'- caccagatgccctggaac -3'

Posted On

2014-05-14