Mutagenetix > Incidental Mutation

Incidental Mutation 'R7469:Aldh1l2'

579041

Institutional Source

Beutler Lab

Gene Symbol

Aldh1l2

Ensembl Gene

ENSMUSG00000020256

Gene Name

aldehyde dehydrogenase 1 family, member L2

Synonyms

MMRRC Submission

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R7469 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

83487450-83534140 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to C at 83508105 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Valine to Glycine at position 482 (V482G)

Ref Sequence

ENSEMBL: ENSMUSP00000020497 (fasta)

Gene Model

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

AlphaFold

Q8K009

Predicted Effect

probably damaging
Transcript: ENSMUST00000020497
AA Change: V482G

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000020497
Gene: ENSMUSG00000020256
AA Change: V482G

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

probably damaging
Transcript: ENSMUST00000146640
AA Change: V369G

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000117076
Gene: ENSMUSG00000020256
AA Change: V369G

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

Meta Mutation Damage Score

0.8199

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.1%

Validation Efficiency

97% (77/79)

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: 79 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcc3	A	G	11: 94,368,188	L443P	probably damaging	Het
Abtb2	T	C	2: 103,566,947	V74A	probably benign	Het
Adam5	A	T	8: 24,815,525	F66I	probably benign	Het
Aff1	T	A	5: 103,833,547	D517E	probably benign	Het
Agbl3	A	G	6: 34,814,414	K559R	probably damaging	Het
Ankra2	C	T	13: 98,266,374	A43V	probably benign	Het
Ankrd50	C	A	3: 38,454,193	V419F	probably damaging	Het
Arhgef16	G	A	4: 154,291,306	T77M	probably damaging	Het
Best3	T	C	10: 117,004,385	V240A	probably damaging	Het
Btbd7	T	C	12: 102,812,768	Y413C	probably damaging	Het
Bzw2	A	T	12: 36,107,551	V305E	probably damaging	Het
Cacng8	G	A	7: 3,415,105	A258T	possibly damaging	Het
Cfap157	T	C	2: 32,780,684	Y184C	probably damaging	Het
Chmp3	T	A	6: 71,579,668	V184E	possibly damaging	Het
Cst10	C	T	2: 149,405,576	L71F	probably benign	Het
Ctdspl2	A	T	2: 122,006,881	E376D	possibly damaging	Het
Cyfip1	A	G	7: 55,877,720	D200G	possibly damaging	Het
Cylc2	T	A	4: 51,227,970		probably null	Het
Cyp2c66	T	A	19: 39,183,863	F407L	probably damaging	Het
Dcp2	T	C	18: 44,395,952	F45L	probably damaging	Het
Dhx34	C	T	7: 16,216,439	R268H	probably benign	Het
Dnajc7	A	T	11: 100,591,551	M205K	probably benign	Het
Dzip3	C	T	16: 48,944,879	V491M	probably benign	Het
Fam160a1	T	C	3: 85,672,762	D712G	probably benign	Het
Farp1	T	C	14: 121,275,421	L777P	probably damaging	Het
Fchsd2	T	G	7: 101,278,656		probably null	Het
Fer1l6	A	T	15: 58,590,570		probably null	Het
Fitm2	A	G	2: 163,469,822	F157S	probably damaging	Het
Flt1	G	T	5: 147,603,569	A770E	probably damaging	Het
Flt3	T	A	5: 147,331,274	E967V	probably benign	Het
Foxc1	G	C	13: 31,808,378	A391P	unknown	Het
Foxc1	C	T	13: 31,808,379	A391V	unknown	Het
Gimap6	T	A	6: 48,702,458	T215S	probably benign	Het
Gm2431	A	T	7: 142,257,781	C129S	unknown	Het
Itpr3	T	C	17: 27,121,054	S2636P	possibly damaging	Het
Lsg1	A	G	16: 30,561,817	Y601H	probably benign	Het
Map4	G	T	9: 110,027,797		probably null	Het
Mga	T	C	2: 119,903,046	M125T	probably damaging	Het
Mxi1	A	G	19: 53,371,660	D271G	probably damaging	Het
Ndst3	T	A	3: 123,671,661	T221S	possibly damaging	Het
Neto1	T	A	18: 86,498,688	S377T	probably benign	Het
Nkx6-2	T	C	7: 139,581,639	E210G	probably damaging	Het
Nos2	G	T	11: 78,952,971	V915F	possibly damaging	Het
Nrros	G	A	16: 32,144,212	A329V	probably benign	Het
Numb	T	C	12: 83,803,804	K211E	probably benign	Het
Nup210	T	A	6: 91,018,892	I1671F	probably benign	Het
Olfr1183	T	A	2: 88,461,347	H2Q	probably benign	Het
Olfr1204	T	A	2: 88,852,503	D184E	probably benign	Het
Olfr530	G	A	7: 140,373,137	L158F	possibly damaging	Het
Pcdh15	A	T	10: 74,645,980	M386L	probably benign	Het
Pcdhb3	C	A	18: 37,301,335	T118K	probably benign	Het
Pcdhb8	A	T	18: 37,355,958	I230F	probably damaging	Het
Peli2	G	A	14: 48,250,558	V120I	probably benign	Het
Pramef20	T	A	4: 144,373,103	Q364L	probably damaging	Het
Pramel7	T	A	2: 87,491,404	M96L	probably benign	Het
Prex2	T	A	1: 11,285,069	S1531R	probably damaging	Het
Prpf31	A	G	7: 3,633,393	T138A	possibly damaging	Het
Psme4	C	T	11: 30,802,837	T175I	probably benign	Het
Rasgrf2	A	G	13: 92,029,022		probably null	Het
Rps19	T	A	7: 24,889,765	*146K	probably null	Het
Rsu1	T	C	2: 13,077,560	N260S	probably benign	Het
Serpina3k	T	C	12: 104,345,335	C391R	not run	Het
Sipa1l1	T	G	12: 82,420,664		probably null	Het
Snd1	T	A	6: 28,626,127	Y394N	probably damaging	Het
Spaca4	A	T	7: 45,725,407	V57E	probably damaging	Het
Spata31d1b	A	G	13: 59,715,464	Y142C	probably benign	Het
Sptbn2	A	G	19: 4,745,118	K1535E	probably benign	Het
Srcin1	A	G	11: 97,534,609	S541P	probably damaging	Het
Tc2n	A	T	12: 101,665,675	F308I	probably damaging	Het
Tdrd5	T	C	1: 156,262,905	D857G	probably benign	Het
Timm22	A	G	11: 76,407,308	D35G	probably benign	Het
Tram1l1	C	A	3: 124,321,240	H16Q	probably benign	Het
Uggt1	T	C	1: 36,151,733	Y1382C	probably damaging	Het
Usp32	G	T	11: 84,988,553	D1443E	possibly damaging	Het
Uty	A	T	Y: 1,131,072	C1046S	possibly damaging	Het
Wdr31	T	A	4: 62,457,531	Q230L	probably damaging	Het
Wnt8b	C	A	19: 44,511,562	T196K	possibly damaging	Het
Xpo4	A	T	14: 57,597,979	H628Q	probably benign	Het
Zfp780b	C	T	7: 27,963,957	S391N	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
R1490:Aldh1l2	UTSW	10	83520370	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
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'- ATGCACAGCTATGGACCTTG -3'
(R):5'- CCAAGATCAGGTTGTTTCCATG -3'

Sequencing Primer
(F):5'- ACAGCTATGGACCTTGCCTCC -3'
(R):5'- GTTCCCCATTTAATCTCAAGATGG -3'

Posted On

2019-10-07