Mutagenetix > Incidental Mutation

Incidental Mutation 'R7357:Aldh1l2'

571040

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 #

R7357 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

83487450-83534140 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 83514544 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Valine at position 320 (M320V)

Ref Sequence

ENSEMBL: ENSMUSP00000020497 (fasta)

Gene Model

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

AlphaFold

Q8K009

Predicted Effect

possibly damaging
Transcript: ENSMUST00000020497
AA Change: M320V

PolyPhen 2 Score 0.886 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000020497
Gene: ENSMUSG00000020256
AA Change: M320V

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

possibly damaging
Transcript: ENSMUST00000146640
AA Change: M207V

PolyPhen 2 Score 0.886 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000117076
Gene: ENSMUSG00000020256
AA Change: M207V

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: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.2%

Validation Efficiency

97% (64/66)

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: 65 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
6430550D23Rik	A	T	2: 156,003,867	H23Q	unknown	Het
9530068E07Rik	A	T	11: 52,406,994	K233I	probably damaging	Het
C2cd3	A	G	7: 100,430,103	N838S		Het
Cacna1s	T	C	1: 136,071,021	F218S	probably damaging	Het
Carmil3	G	T	14: 55,491,133		probably benign	Het
Cd300a	A	T	11: 114,893,327	T54S	probably benign	Het
Celf3	G	A	3: 94,480,330	E70K	probably damaging	Het
Celsr1	A	C	15: 86,030,514	M1086R	probably benign	Het
Ces2f	G	A	8: 104,949,963	M96I	probably benign	Het
Chrdl2	G	A	7: 100,029,207	V329I	probably benign	Het
Ctc1	T	A	11: 69,034,742	L1035Q	probably benign	Het
Dbi	A	G	1: 120,119,893		probably null	Het
Dock3	A	G	9: 107,005,369	I405T	probably benign	Het
Dpp4	A	T	2: 62,387,077	W59R	probably benign	Het
Dsg3	T	A	18: 20,539,783	I837N	probably damaging	Het
Fbxw15	A	G	9: 109,558,240	V229A	probably benign	Het
Fermt3	T	C	19: 7,002,843	T395A	probably benign	Het
Focad	A	T	4: 88,229,335	I404F	probably benign	Het
Gm4869	A	G	5: 140,495,051	R979G	possibly damaging	Het
Gm8104	T	C	14: 43,101,611	I86T	probably damaging	Het
Gm9857	A	C	3: 108,940,162	L95R	unknown	Het
Hoxa1	A	T	6: 52,156,949	S266T	probably benign	Het
Leng8	T	A	7: 4,144,933	Y625*	probably null	Het
Mast3	A	G	8: 70,784,859	V557A	probably damaging	Het
Morc1	T	C	16: 48,622,590	F813L	probably benign	Het
Ntf3	T	A	6: 126,101,998	I182F	probably damaging	Het
Nup153	G	T	13: 46,717,166	A91E	probably benign	Het
Olfr1402	G	C	3: 97,410,655	N175K	probably damaging	Het
Olfr648	A	T	7: 104,179,771	D212E	probably damaging	Het
Pamr1	G	A	2: 102,586,704	W120*	probably null	Het
Pcsk1	A	G	13: 75,125,960	N436S	probably damaging	Het
Pde4dip	T	C	3: 97,715,541	K1451E	probably benign	Het
Pebp4	G	A	14: 70,048,415	V176I	possibly damaging	Het
Phgdh	G	A	3: 98,339,822	A4V	probably benign	Het
Pik3c2g	T	C	6: 139,633,793		probably null	Het
Ppic	T	C	18: 53,411,067	Y82C	probably damaging	Het
Ppip5k2	A	G	1: 97,759,216	V94A	possibly damaging	Het
Ppp1r9b	T	C	11: 95,004,598	V704A	probably benign	Het
Pramel6	G	T	2: 87,510,512	R396L	not run	Het
Prss48	A	T	3: 85,997,221	D223E	probably damaging	Het
Psd3	T	C	8: 68,121,497	K11E	probably benign	Het
Rabgap1l	T	C	1: 160,342,038	K780E	probably damaging	Het
Retreg1	A	T	15: 25,971,943	D323V	probably damaging	Het
Samd11	A	T	4: 156,255,007		probably null	Het
Sec14l3	T	A	11: 4,070,127	F188Y	probably benign	Het
Serpina5	A	T	12: 104,103,380	T284S	possibly damaging	Het
Setx	A	G	2: 29,130,301	D100G	probably benign	Het
Sis	A	T	3: 72,925,071	V1035D	probably damaging	Het
Slco4a1	A	G	2: 180,472,137	I456V	probably benign	Het
Snx14	A	T	9: 88,404,316	C393S	possibly damaging	Het
Stil	T	C	4: 115,014,226		probably null	Het
Sult6b1	A	G	17: 78,894,630	S148P	probably damaging	Het
Sycp2	G	T	2: 178,403,804		probably null	Het
Tesmin	T	C	19: 3,397,042	I273T	probably benign	Het
Tmem39a	T	A	16: 38,586,230	Y310N	probably damaging	Het
Trp53bp1	A	T	2: 121,211,300	D1258E	probably damaging	Het
Ttc12	A	C	9: 49,438,387	D703E	probably benign	Het
Unc13c	TATAA	TATAATAA	9: 73,933,528		probably benign	Het
Unc13c	ATA	ATAGTA	9: 73,933,529		probably benign	Het
Usp18	T	C	6: 121,253,849	I79T	possibly damaging	Het
Usp9y	A	T	Y: 1,333,656	D1596E	possibly damaging	Het
Vmn2r109	A	T	17: 20,541,274	V607E	probably damaging	Het
Vwa8	G	A	14: 79,038,201	R808K	probably null	Het
Zfp248	A	G	6: 118,429,657	Y324H	probably damaging	Het
Zfp513	G	A	5: 31,199,788	P387S	possibly damaging	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
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'- GGAGATAAAATCACAATCCCACTGC -3'
(R):5'- TCTGCCACGATGAAGATGTCA -3'

Sequencing Primer
(F):5'- TGCTCTAAGAACAACTAGACCAG -3'
(R):5'- GATGTCATCCCAGACCCTTAGG -3'

Posted On

2019-09-13