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

D330038I09Rik

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

83323314-83370004 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 83344487 bp (GRCm39)

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: 145,062,564 (GRCm39)	V226A	possibly damaging	Het
Casz1	C	A	4: 149,019,052 (GRCm39)	T451K	probably damaging	Het
Ccr4	C	T	9: 114,321,085 (GRCm39)	V327M	probably benign	Het
Cntrl	A	G	2: 35,017,985 (GRCm39)	E465G	probably damaging	Het
Cpa1	A	G	6: 30,645,260 (GRCm39)	D412G	probably benign	Het
Crispld1	T	A	1: 17,819,846 (GRCm39)	N281K	probably benign	Het
Cul3	T	C	1: 80,258,641 (GRCm39)	Q465R	probably damaging	Het
Cyp2c68	G	A	19: 39,700,903 (GRCm39)	T305M	probably damaging	Het
Elp4	T	C	2: 105,672,656 (GRCm39)	D143G	probably benign	Het
Etnppl	A	G	3: 130,428,212 (GRCm39)	I462M	probably benign	Het
Fmo4	A	G	1: 162,631,232 (GRCm39)	V245A	probably benign	Het
Gm4076	A	G	13: 85,275,437 (GRCm39)		noncoding transcript	Het
Gtf3c3	C	T	1: 54,456,937 (GRCm39)	A488T	probably damaging	Het
Kcnj15	G	A	16: 95,096,484 (GRCm39)	M8I	probably benign	Het
Klk1b22	A	T	7: 43,766,283 (GRCm39)	M255L	probably benign	Het
Mmrn1	T	A	6: 60,953,309 (GRCm39)	I530K	possibly damaging	Het
Muc21	T	C	17: 35,930,920 (GRCm39)		probably benign	Het
Nid2	A	C	14: 19,813,732 (GRCm39)		probably null	Het
Or10g6	T	C	9: 39,934,058 (GRCm39)	F123S	probably damaging	Het
Or10h28	C	T	17: 33,487,940 (GRCm39)	R81*	probably null	Het
Or9e1	A	G	11: 58,732,641 (GRCm39)	K234E	possibly damaging	Het
Peak1	G	A	9: 56,165,702 (GRCm39)	T742M	probably benign	Het
Sel1l3	T	A	5: 53,329,949 (GRCm39)	T469S	probably benign	Het
Sez6	A	G	11: 77,865,340 (GRCm39)	Y659C	probably damaging	Het
Slc19a2	A	T	1: 164,091,025 (GRCm39)	I278F	possibly damaging	Het
Slc36a3	T	C	11: 55,037,006 (GRCm39)	I100V	possibly damaging	Het
Tcerg1	A	G	18: 42,707,717 (GRCm39)	D1079G	probably damaging	Het
Trim43c	T	C	9: 88,727,030 (GRCm39)	S286P	probably benign	Het
Umod	T	C	7: 119,076,529 (GRCm39)	N79S	possibly damaging	Het
Wdr43	A	G	17: 71,923,382 (GRCm39)	T43A	probably benign	Het

Other mutations in Aldh1l2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01152:Aldh1l2	APN	10	83,358,750 (GRCm39)	nonsense	probably null
IGL01154:Aldh1l2	APN	10	83,356,237 (GRCm39)	missense	probably damaging	1.00
IGL01301:Aldh1l2	APN	10	83,358,710 (GRCm39)	missense	probably damaging	1.00
IGL01354:Aldh1l2	APN	10	83,363,240 (GRCm39)	missense	probably damaging	1.00
IGL01364:Aldh1l2	APN	10	83,328,531 (GRCm39)	missense	probably damaging	1.00
IGL01445:Aldh1l2	APN	10	83,356,126 (GRCm39)	splice site	probably benign
IGL02179:Aldh1l2	APN	10	83,358,701 (GRCm39)	missense	probably benign	0.10
IGL02283:Aldh1l2	APN	10	83,331,759 (GRCm39)	missense	probably benign	0.00
IGL02507:Aldh1l2	APN	10	83,328,448 (GRCm39)	nonsense	probably null
IGL02727:Aldh1l2	APN	10	83,342,469 (GRCm39)	missense	probably damaging	1.00
IGL03353:Aldh1l2	APN	10	83,358,777 (GRCm39)	missense	probably benign	0.17
Hunger_winter	UTSW	10	83,343,877 (GRCm39)	critical splice donor site	probably null
Spartan	UTSW	10	83,348,170 (GRCm39)	missense	possibly damaging	0.93
ANU18:Aldh1l2	UTSW	10	83,358,710 (GRCm39)	missense	probably damaging	1.00
IGL02984:Aldh1l2	UTSW	10	83,363,199 (GRCm39)	missense	probably damaging	1.00
R0267:Aldh1l2	UTSW	10	83,358,551 (GRCm39)	splice site	probably benign
R0302:Aldh1l2	UTSW	10	83,356,229 (GRCm39)	missense	probably damaging	1.00
R0349:Aldh1l2	UTSW	10	83,326,478 (GRCm39)	missense	probably damaging	1.00
R0468:Aldh1l2	UTSW	10	83,354,542 (GRCm39)	missense	probably benign	0.01
R0745:Aldh1l2	UTSW	10	83,354,494 (GRCm39)	splice site	probably null
R0788:Aldh1l2	UTSW	10	83,352,028 (GRCm39)	missense	probably damaging	1.00
R1241:Aldh1l2	UTSW	10	83,331,889 (GRCm39)	missense	probably benign	0.00
R1420:Aldh1l2	UTSW	10	83,331,799 (GRCm39)	missense	probably damaging	1.00
R1490:Aldh1l2	UTSW	10	83,356,234 (GRCm39)	missense	probably damaging	1.00
R1704:Aldh1l2	UTSW	10	83,344,524 (GRCm39)	missense	probably benign	0.10
R1729:Aldh1l2	UTSW	10	83,343,946 (GRCm39)	nonsense	probably null
R1893:Aldh1l2	UTSW	10	83,328,400 (GRCm39)	missense	probably damaging	1.00
R1897:Aldh1l2	UTSW	10	83,338,389 (GRCm39)	missense	probably damaging	1.00
R2047:Aldh1l2	UTSW	10	83,342,607 (GRCm39)	missense	probably damaging	1.00
R2290:Aldh1l2	UTSW	10	83,363,177 (GRCm39)	missense	probably damaging	1.00
R3054:Aldh1l2	UTSW	10	83,338,336 (GRCm39)	missense	probably benign	0.14
R3055:Aldh1l2	UTSW	10	83,338,336 (GRCm39)	missense	probably benign	0.14
R4097:Aldh1l2	UTSW	10	83,348,228 (GRCm39)	missense	probably damaging	0.98
R4162:Aldh1l2	UTSW	10	83,342,518 (GRCm39)	missense	possibly damaging	0.50
R4295:Aldh1l2	UTSW	10	83,331,784 (GRCm39)	missense	possibly damaging	0.62
R4296:Aldh1l2	UTSW	10	83,358,641 (GRCm39)	missense	probably benign	0.34
R4388:Aldh1l2	UTSW	10	83,349,486 (GRCm39)	missense	probably damaging	1.00
R4809:Aldh1l2	UTSW	10	83,342,496 (GRCm39)	missense	probably damaging	1.00
R5052:Aldh1l2	UTSW	10	83,344,556 (GRCm39)	missense	possibly damaging	0.92
R5421:Aldh1l2	UTSW	10	83,363,271 (GRCm39)	missense	probably damaging	1.00
R5491:Aldh1l2	UTSW	10	83,358,649 (GRCm39)	missense	probably benign	0.00
R5688:Aldh1l2	UTSW	10	83,337,789 (GRCm39)	missense	possibly damaging	0.93
R5726:Aldh1l2	UTSW	10	83,348,170 (GRCm39)	missense	possibly damaging	0.93
R5737:Aldh1l2	UTSW	10	83,356,189 (GRCm39)	missense	probably damaging	1.00
R5752:Aldh1l2	UTSW	10	83,356,244 (GRCm39)	missense	probably damaging	1.00
R6113:Aldh1l2	UTSW	10	83,343,998 (GRCm39)	nonsense	probably null
R6161:Aldh1l2	UTSW	10	83,356,202 (GRCm39)	missense	probably benign	0.00
R6166:Aldh1l2	UTSW	10	83,329,288 (GRCm39)	splice site	probably null
R6189:Aldh1l2	UTSW	10	83,343,877 (GRCm39)	critical splice donor site	probably null
R7357:Aldh1l2	UTSW	10	83,350,408 (GRCm39)	missense	possibly damaging	0.89
R7394:Aldh1l2	UTSW	10	83,338,321 (GRCm39)	missense	probably damaging	1.00
R7469:Aldh1l2	UTSW	10	83,343,969 (GRCm39)	missense	probably damaging	1.00
R7676:Aldh1l2	UTSW	10	83,343,975 (GRCm39)	missense	probably benign
R7848:Aldh1l2	UTSW	10	83,335,707 (GRCm39)	missense	probably benign	0.12
R7958:Aldh1l2	UTSW	10	83,356,202 (GRCm39)	missense	probably benign	0.00
R8311:Aldh1l2	UTSW	10	83,326,479 (GRCm39)	missense	probably damaging	1.00
R8477:Aldh1l2	UTSW	10	83,337,785 (GRCm39)	missense	probably damaging	1.00
R8730:Aldh1l2	UTSW	10	83,342,506 (GRCm39)	missense	possibly damaging	0.94
R8884:Aldh1l2	UTSW	10	83,344,541 (GRCm39)	missense	probably benign	0.02
R9117:Aldh1l2	UTSW	10	83,342,545 (GRCm39)	missense	probably benign	0.41
R9239:Aldh1l2	UTSW	10	83,342,496 (GRCm39)	missense	probably damaging	1.00
R9335:Aldh1l2	UTSW	10	83,342,510 (GRCm39)	missense	probably damaging	0.96
R9368:Aldh1l2	UTSW	10	83,331,816 (GRCm39)	nonsense	probably null
R9784:Aldh1l2	UTSW	10	83,342,614 (GRCm39)	critical splice acceptor site	probably null
Z1177:Aldh1l2	UTSW	10	83,369,869 (GRCm39)	missense	probably benign
Z1177:Aldh1l2	UTSW	10	83,329,344 (GRCm39)	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