Mutagenetix > Incidental Mutation

Incidental Mutation 'R9784:Aldh1l2'

734230

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 #

R9784 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

83487450-83534140 bp(-) (GRCm38)

Type of Mutation

critical splice acceptor site

DNA Base Change (assembly)

T to A at 83506750 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000020497 (fasta)

Gene Model

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

AlphaFold

Q8K009

Predicted Effect

probably null
Transcript: ENSMUST00000020497

SMART Domains

Protein: ENSMUSP00000020497
Gene: ENSMUSG00000020256

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 benign
Transcript: ENSMUST00000146640

SMART Domains

Protein: ENSMUSP00000117076
Gene: ENSMUSG00000020256

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: 99.9%
3x: 99.8%
10x: 99.3%
20x: 98.0%

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: 82 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2900026A02Rik	G	A	5: 113,190,661	P495L	possibly damaging	Het
4931440F15Rik	A	T	11: 29,825,253	V68E	probably damaging	Het
Acly	C	T	11: 100,498,286	A557T	probably benign	Het
Adgrl4	A	T	3: 151,509,311	T446S	probably damaging	Het
AK157302	A	G	13: 21,495,598	E98G	probably damaging	Het
Akap6	A	T	12: 53,141,070	T1756S	probably damaging	Het
Aldh1l1	A	G	6: 90,564,442	T273A	probably benign	Het
Alox12	T	C	11: 70,252,839	E201G	possibly damaging	Het
Arhgef16	A	G	4: 154,286,965	V257A	probably damaging	Het
Asxl3	C	T	18: 22,517,254	L767F	probably benign	Het
Atxn7l2	T	C	3: 108,203,249	K692R	probably null	Het
Btbd2	T	C	10: 80,648,647	D145G	probably damaging	Het
Cacna1b	A	T	2: 24,761,789	M126K	possibly damaging	Het
Cacna2d2	T	A	9: 107,527,147	C1081S	probably benign	Het
Cass4	T	C	2: 172,427,833	S612P	probably benign	Het
Cd209d	A	G	8: 3,876,337	S123P	probably damaging	Het
Cep112	T	C	11: 108,570,391	S665P	probably damaging	Het
Cnp	C	T	11: 100,576,611	R127W	probably damaging	Het
Col9a2	A	T	4: 121,041,029	D46V	unknown	Het
Cyp1a2	T	A	9: 57,680,279	N336I	probably benign	Het
Cyp2c37	A	G	19: 40,000,499	T301A	possibly damaging	Het
Dhtkd1	T	A	2: 5,930,811	E163D	probably benign	Het
Dido1	A	T	2: 180,683,561	F611L	probably benign	Het
Dnah9	T	A	11: 66,085,134	N1363I	probably damaging	Het
Drg2	A	G	11: 60,467,722	K331R	probably benign	Het
Fam171b	T	A	2: 83,860,443	I250K	probably damaging	Het
Fut8	T	A	12: 77,412,839	I242N	probably damaging	Het
Glyat	T	C	19: 12,651,480	V247A	probably benign	Het
Gucy2e	T	C	11: 69,232,690	N461S	probably benign	Het
Hif3a	T	A	7: 17,037,151	H627L	probably benign	Het
Ighv8-5	T	A	12: 115,067,608	T104S	probably benign	Het
Ighv8-9	C	T	12: 115,468,374	V106M	probably benign	Het
Inpp5f	A	C	7: 128,676,791	D435A	possibly damaging	Het
Katna1	G	C	10: 7,762,826	E440D	probably null	Het
Kmt2c	T	C	5: 25,344,961	R1341G	probably damaging	Het
Krt14	C	T	11: 100,207,140	G106S	unknown	Het
Krt39	A	G	11: 99,518,362	C238R	possibly damaging	Het
Mak	C	T	13: 41,049,360	S204N	possibly damaging	Het
Map3k5	A	G	10: 19,935,066	Y154C	probably damaging	Het
Mgam	A	G	6: 40,759,090	Y841C	probably damaging	Het
Mgst1	A	T	6: 138,147,801	R38W	probably damaging	Het
Midn	A	G	10: 80,156,413	E433G	probably damaging	Het
Muc2	T	A	7: 141,694,542	C380*	probably null	Het
Nans	G	T	4: 46,499,129	K145N	possibly damaging	Het
Nbeal1	G	A	1: 60,260,582	W1359*	probably null	Het
Neo1	T	A	9: 58,982,220	E256V	probably benign	Het
Nkd1	C	A	8: 88,591,702	D322E	probably damaging	Het
Olfm4	T	C	14: 80,011,908	V155A	probably damaging	Het
Olfr1303	A	G	2: 111,814,259	S156P	probably damaging	Het
Olfr1445	G	A	19: 12,884,510	V210M	probably benign	Het
Olfr1461	T	A	19: 13,165,449	L145Q	probably damaging	Het
Olfr409-ps1	G	T	11: 74,317,883	C286F	unknown	Het
Olfr613	T	A	7: 103,552,059	H91Q	probably benign	Het
Olfr67	T	A	7: 103,787,525	I251F	probably benign	Het
Olfr847	A	T	9: 19,375,820	D20E	probably damaging	Het
Opa1	C	A	16: 29,618,211	S646*	probably null	Het
Pcdh15	A	T	10: 74,631,380	H1743L	probably benign	Het
Ppp1r13b	T	C	12: 111,843,685	T230A	probably benign	Het
Ptf1a	G	T	2: 19,446,570	R237L	probably benign	Het
Ripk4	G	A	16: 97,748,106	P250L	possibly damaging	Het
Ropn1l	T	C	15: 31,453,503	H14R		Het
Setdb1	T	C	3: 95,325,862	S1122G	probably damaging	Het
Shank1	G	A	7: 44,312,918	S71N	unknown	Het
Slc22a18	T	A	7: 143,492,941	M274K	probably benign	Het
Spink5	T	G	18: 43,986,423	F267C	probably damaging	Het
Stau1	T	C	2: 166,949,775	M481V	probably benign	Het
Stk39	C	T	2: 68,368,431	G281E	probably damaging	Het
Stt3a	A	T	9: 36,758,783	L119Q	probably damaging	Het
Stx18	C	T	5: 38,039,291		probably benign	Het
Tgfbr3	G	T	5: 107,149,933	N200K	probably benign	Het
Timm8b	A	G	9: 50,604,973	E42G	probably benign	Het
Togaram1	T	A	12: 64,967,394	L473*	probably null	Het
Trappc12	A	G	12: 28,747,458	I25T	probably benign	Het
Trim33	T	C	3: 103,337,507	S737P	possibly damaging	Het
Trmt1	A	C	8: 84,697,701	H455P	probably damaging	Het
Trpc1	C	T	9: 95,717,593	R471H	possibly damaging	Het
Ttll2	T	A	17: 7,351,308	T407S	probably benign	Het
Unc45b	T	A	11: 82,926,160	N475K	probably damaging	Het
Usp48	T	A	4: 137,594,501	I40N	probably benign	Het
Wdr7	T	G	18: 63,904,165	V1220G	probably damaging	Het
Zfp830	C	T	11: 82,764,979	T203I	possibly damaging	Het
Zfp955a	T	A	17: 33,242,175	I328F	probably 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
R7357:Aldh1l2	UTSW	10	83514544	missense	possibly damaging	0.89
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
Z1177:Aldh1l2	UTSW	10	83493480	missense	probably damaging	1.00
Z1177:Aldh1l2	UTSW	10	83534005	missense	probably benign

Predicted Primers

PCR Primer
(F):5'- AAACTCTCCACCTTGAGGCC -3'
(R):5'- ACACGCTGGGGACTTAGTTG -3'

Sequencing Primer
(F):5'- CTGTGGGAAGGAGGAGCTTCC -3'
(R):5'- GTAGAGCACTCACCTAACATGTGTG -3'

Posted On

2022-11-14