Mutagenetix > Incidental Mutation

Incidental Mutation 'R1117:Aldh1l2'

97432

Institutional Source

Beutler Lab

Gene Symbol

Aldh1l2

Ensembl Gene

ENSMUSG00000020256

Gene Name

aldehyde dehydrogenase 1 family, member L2

Synonyms

MMRRC Submission

039190-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R1117 (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 83508623 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Isoleucine at position 353 (T353I)

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: T466I

PolyPhen 2 Score 0.012 (Sensitivity: 0.96; Specificity: 0.78)

SMART Domains

Protein: ENSMUSP00000020497
Gene: ENSMUSG00000020256
AA Change: T466I

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: T353I

PolyPhen 2 Score 0.012 (Sensitivity: 0.96; Specificity: 0.78)

SMART Domains

Protein: ENSMUSP00000117076
Gene: ENSMUSG00000020256
AA Change: T353I

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: 99.0%
3x: 98.1%
10x: 95.6%
20x: 90.1%

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: 30 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Arpc1b	T	C	5: 145,125,754 (GRCm38)	V226A	possibly damaging	Het
Casz1	C	A	4: 148,934,595 (GRCm38)	T451K	probably damaging	Het
Ccr4	C	T	9: 114,492,017 (GRCm38)	V327M	probably benign	Het
Cntrl	A	G	2: 35,127,973 (GRCm38)	E465G	probably damaging	Het
Cpa1	A	G	6: 30,645,261 (GRCm38)	D412G	probably benign	Het
Crispld1	T	A	1: 17,749,622 (GRCm38)	N281K	probably benign	Het
Cul3	T	C	1: 80,280,924 (GRCm38)	Q465R	probably damaging	Het
Cyp2c68	G	A	19: 39,712,459 (GRCm38)	T305M	probably damaging	Het
Elp4	T	C	2: 105,842,311 (GRCm38)	D143G	probably benign	Het
Etnppl	A	G	3: 130,634,563 (GRCm38)	I462M	probably benign	Het
Fmo4	A	G	1: 162,803,663 (GRCm38)	V245A	probably benign	Het
Gm4076	A	G	13: 85,127,318 (GRCm38)		noncoding transcript	Het
Gm9573	T	C	17: 35,620,028 (GRCm38)		probably benign	Het
Gtf3c3	C	T	1: 54,417,778 (GRCm38)	A488T	probably damaging	Het
Kcnj15	G	A	16: 95,295,625 (GRCm38)	M8I	probably benign	Het
Klk1b22	A	T	7: 44,116,859 (GRCm38)	M255L	probably benign	Het
Mmrn1	T	A	6: 60,976,325 (GRCm38)	I530K	possibly damaging	Het
Nid2	A	C	14: 19,763,664 (GRCm38)		probably null	Het
Olfr311	A	G	11: 58,841,815 (GRCm38)	K234E	possibly damaging	Het
Olfr63	C	T	17: 33,268,966 (GRCm38)	R81*	probably null	Het
Olfr981	T	C	9: 40,022,762 (GRCm38)	F123S	probably damaging	Het
Peak1	G	A	9: 56,258,418 (GRCm38)	T742M	probably benign	Het
Sel1l3	T	A	5: 53,172,607 (GRCm38)	T469S	probably benign	Het
Sez6	A	G	11: 77,974,514 (GRCm38)	Y659C	probably damaging	Het
Slc19a2	A	T	1: 164,263,456 (GRCm38)	I278F	possibly damaging	Het
Slc36a3	T	C	11: 55,146,180 (GRCm38)	I100V	possibly damaging	Het
Tcerg1	A	G	18: 42,574,652 (GRCm38)	D1079G	probably damaging	Het
Trim43c	T	C	9: 88,844,977 (GRCm38)	S286P	probably benign	Het
Umod	T	C	7: 119,477,306 (GRCm38)	N79S	possibly damaging	Het
Wdr43	A	G	17: 71,616,387 (GRCm38)	T43A	probably benign	Het

Other mutations in Aldh1l2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01152:Aldh1l2	APN	10	83,522,886 (GRCm38)	nonsense	probably null
IGL01154:Aldh1l2	APN	10	83,520,373 (GRCm38)	missense	probably damaging	1.00
IGL01301:Aldh1l2	APN	10	83,522,846 (GRCm38)	missense	probably damaging	1.00
IGL01354:Aldh1l2	APN	10	83,527,376 (GRCm38)	missense	probably damaging	1.00
IGL01364:Aldh1l2	APN	10	83,492,667 (GRCm38)	missense	probably damaging	1.00
IGL01445:Aldh1l2	APN	10	83,520,262 (GRCm38)	splice site	probably benign
IGL02179:Aldh1l2	APN	10	83,522,837 (GRCm38)	missense	probably benign	0.10
IGL02283:Aldh1l2	APN	10	83,495,895 (GRCm38)	missense	probably benign	0.00
IGL02507:Aldh1l2	APN	10	83,492,584 (GRCm38)	nonsense	probably null
IGL02727:Aldh1l2	APN	10	83,506,605 (GRCm38)	missense	probably damaging	1.00
IGL03353:Aldh1l2	APN	10	83,522,913 (GRCm38)	missense	probably benign	0.17
Hunger_winter	UTSW	10	83,508,013 (GRCm38)	critical splice donor site	probably null
Spartan	UTSW	10	83,512,306 (GRCm38)	missense	possibly damaging	0.93
ANU18:Aldh1l2	UTSW	10	83,522,846 (GRCm38)	missense	probably damaging	1.00
IGL02984:Aldh1l2	UTSW	10	83,527,335 (GRCm38)	missense	probably damaging	1.00
R0267:Aldh1l2	UTSW	10	83,522,687 (GRCm38)	splice site	probably benign
R0302:Aldh1l2	UTSW	10	83,520,365 (GRCm38)	missense	probably damaging	1.00
R0349:Aldh1l2	UTSW	10	83,490,614 (GRCm38)	missense	probably damaging	1.00
R0468:Aldh1l2	UTSW	10	83,518,678 (GRCm38)	missense	probably benign	0.01
R0745:Aldh1l2	UTSW	10	83,518,630 (GRCm38)	splice site	probably null
R0788:Aldh1l2	UTSW	10	83,516,164 (GRCm38)	missense	probably damaging	1.00
R1241:Aldh1l2	UTSW	10	83,496,025 (GRCm38)	missense	probably benign	0.00
R1420:Aldh1l2	UTSW	10	83,495,935 (GRCm38)	missense	probably damaging	1.00
R1490:Aldh1l2	UTSW	10	83,520,370 (GRCm38)	missense	probably damaging	1.00
R1704:Aldh1l2	UTSW	10	83,508,660 (GRCm38)	missense	probably benign	0.10
R1729:Aldh1l2	UTSW	10	83,508,082 (GRCm38)	nonsense	probably null
R1893:Aldh1l2	UTSW	10	83,492,536 (GRCm38)	missense	probably damaging	1.00
R1897:Aldh1l2	UTSW	10	83,502,525 (GRCm38)	missense	probably damaging	1.00
R2047:Aldh1l2	UTSW	10	83,506,743 (GRCm38)	missense	probably damaging	1.00
R2290:Aldh1l2	UTSW	10	83,527,313 (GRCm38)	missense	probably damaging	1.00
R3054:Aldh1l2	UTSW	10	83,502,472 (GRCm38)	missense	probably benign	0.14
R3055:Aldh1l2	UTSW	10	83,502,472 (GRCm38)	missense	probably benign	0.14
R4097:Aldh1l2	UTSW	10	83,512,364 (GRCm38)	missense	probably damaging	0.98
R4162:Aldh1l2	UTSW	10	83,506,654 (GRCm38)	missense	possibly damaging	0.50
R4295:Aldh1l2	UTSW	10	83,495,920 (GRCm38)	missense	possibly damaging	0.62
R4296:Aldh1l2	UTSW	10	83,522,777 (GRCm38)	missense	probably benign	0.34
R4388:Aldh1l2	UTSW	10	83,513,622 (GRCm38)	missense	probably damaging	1.00
R4809:Aldh1l2	UTSW	10	83,506,632 (GRCm38)	missense	probably damaging	1.00
R5052:Aldh1l2	UTSW	10	83,508,692 (GRCm38)	missense	possibly damaging	0.92
R5421:Aldh1l2	UTSW	10	83,527,407 (GRCm38)	missense	probably damaging	1.00
R5491:Aldh1l2	UTSW	10	83,522,785 (GRCm38)	missense	probably benign	0.00
R5688:Aldh1l2	UTSW	10	83,501,925 (GRCm38)	missense	possibly damaging	0.93
R5726:Aldh1l2	UTSW	10	83,512,306 (GRCm38)	missense	possibly damaging	0.93
R5737:Aldh1l2	UTSW	10	83,520,325 (GRCm38)	missense	probably damaging	1.00
R5752:Aldh1l2	UTSW	10	83,520,380 (GRCm38)	missense	probably damaging	1.00
R6113:Aldh1l2	UTSW	10	83,508,134 (GRCm38)	nonsense	probably null
R6161:Aldh1l2	UTSW	10	83,520,338 (GRCm38)	missense	probably benign	0.00
R6166:Aldh1l2	UTSW	10	83,493,424 (GRCm38)	splice site	probably null
R6189:Aldh1l2	UTSW	10	83,508,013 (GRCm38)	critical splice donor site	probably null
R7357:Aldh1l2	UTSW	10	83,514,544 (GRCm38)	missense	possibly damaging	0.89
R7394:Aldh1l2	UTSW	10	83,502,457 (GRCm38)	missense	probably damaging	1.00
R7469:Aldh1l2	UTSW	10	83,508,105 (GRCm38)	missense	probably damaging	1.00
R7676:Aldh1l2	UTSW	10	83,508,111 (GRCm38)	missense	probably benign
R7848:Aldh1l2	UTSW	10	83,499,843 (GRCm38)	missense	probably benign	0.12
R7958:Aldh1l2	UTSW	10	83,520,338 (GRCm38)	missense	probably benign	0.00
R8311:Aldh1l2	UTSW	10	83,490,615 (GRCm38)	missense	probably damaging	1.00
R8477:Aldh1l2	UTSW	10	83,501,921 (GRCm38)	missense	probably damaging	1.00
R8730:Aldh1l2	UTSW	10	83,506,642 (GRCm38)	missense	possibly damaging	0.94
R8884:Aldh1l2	UTSW	10	83,508,677 (GRCm38)	missense	probably benign	0.02
R9117:Aldh1l2	UTSW	10	83,506,681 (GRCm38)	missense	probably benign	0.41
R9239:Aldh1l2	UTSW	10	83,506,632 (GRCm38)	missense	probably damaging	1.00
R9335:Aldh1l2	UTSW	10	83,506,646 (GRCm38)	missense	probably damaging	0.96
R9368:Aldh1l2	UTSW	10	83,495,952 (GRCm38)	nonsense	probably null
R9784:Aldh1l2	UTSW	10	83,506,750 (GRCm38)	critical splice acceptor site	probably null
Z1177:Aldh1l2	UTSW	10	83,534,005 (GRCm38)	missense	probably benign
Z1177:Aldh1l2	UTSW	10	83,493,480 (GRCm38)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- TGCCATGAGTCTGAAGTACACCCC -3'
(R):5'- GAATCCCACCAAGCTGACCTCTTTC -3'

Sequencing Primer
(F):5'- TCTGCACACAGGGATCTGC -3'
(R):5'- gctactgtgccatctctcc -3'

Posted On

2014-01-05