Mutagenetix > Incidental Mutation

Incidental Mutation 'R5491:Aldh1l2'

432088

Institutional Source

Beutler Lab

Gene Symbol

Aldh1l2

Ensembl Gene

ENSMUSG00000020256

Gene Name

aldehyde dehydrogenase 1 family, member L2

Synonyms

D330038I09Rik

MMRRC Submission

043052-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R5491 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

83323314-83370004 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 83358649 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glutamic Acid at position 2 (D2E)

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: D115E

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000020497
Gene: ENSMUSG00000020256
AA Change: D115E

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 benign
Transcript: ENSMUST00000146640
AA Change: D2E

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000117076
Gene: ENSMUSG00000020256
AA Change: D2E

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: 98.2%
3x: 97.2%
10x: 95.0%
20x: 89.9%

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
A1cf	G	T	19: 31,895,462 (GRCm39)	A182S	possibly damaging	Het
Bach2	G	T	4: 32,562,681 (GRCm39)	D383Y	probably damaging	Het
Cd248	T	C	19: 5,120,237 (GRCm39)	L695P	probably damaging	Het
Cela1	T	A	15: 100,580,861 (GRCm39)	N132Y	probably damaging	Het
Cisd2	A	T	3: 135,114,601 (GRCm39)	D123E	probably damaging	Het
Col6a6	T	A	9: 105,615,435 (GRCm39)	D1571V	probably damaging	Het
Eif4a3l1	C	G	6: 136,306,555 (GRCm39)	R339G	probably damaging	Het
Fbxo48	C	T	11: 16,904,280 (GRCm39)	T144M	probably damaging	Het
Fbxo7	C	A	10: 85,883,890 (GRCm39)	P497Q	probably damaging	Het
Garin5b	T	C	7: 4,760,925 (GRCm39)	I596V	probably benign	Het
Gm12695	T	A	4: 96,657,905 (GRCm39)	H88L	possibly damaging	Het
Gpat4	A	G	8: 23,670,680 (GRCm39)	I133T	probably benign	Het
Hmcn1	C	T	1: 150,485,576 (GRCm39)		probably null	Het
Ncaph	T	C	2: 126,965,595 (GRCm39)	T252A	probably benign	Het
Nebl	G	T	2: 17,439,783 (GRCm39)	Y163*	probably null	Het
Neurod4	C	T	10: 130,106,936 (GRCm39)	V113I	possibly damaging	Het
Or13j1	A	G	4: 43,705,990 (GRCm39)	S193P	probably damaging	Het
Or3a1d	A	T	11: 74,237,740 (GRCm39)	H103Q	probably benign	Het
Or4f56	T	A	2: 111,703,907 (GRCm39)	I98F	probably benign	Het
Pbxip1	T	A	3: 89,350,466 (GRCm39)	M37K	probably benign	Het
Phactr2	T	C	10: 13,137,590 (GRCm39)	N184S	possibly damaging	Het
Phf20l1	C	T	15: 66,487,634 (GRCm39)	P480L	possibly damaging	Het
Psme4	T	C	11: 30,765,246 (GRCm39)	S538P	possibly damaging	Het
Rassf1	T	A	9: 107,438,614 (GRCm39)	M228K	possibly damaging	Het
Rpn2	A	G	2: 157,139,303 (GRCm39)	D231G	probably damaging	Het
She	A	T	3: 89,739,097 (GRCm39)	D96V	probably damaging	Het
Shisal1	C	A	15: 84,290,711 (GRCm39)	V199L	probably benign	Het
Tmem260	T	A	14: 48,749,627 (GRCm39)		probably null	Het
Ttn	T	A	2: 76,562,702 (GRCm39)	I28751F	probably damaging	Het
Zfp60	T	G	7: 27,447,940 (GRCm39)		probably null	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
R1117:Aldh1l2	UTSW	10	83,344,487 (GRCm39)	missense	probably benign	0.01
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
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'- CACACCTCGTTTCTGTATCATGTAG -3'
(R):5'- GCCTGTAAAAGTTGTGTGAAATTGC -3'

Sequencing Primer
(F):5'- CCTCGTTTCTGTATCATGTAGAAGAG -3'
(R):5'- CCATGTGTTAATATGAGACCATGG -3'

Posted On

2016-10-05