Mutagenetix > Incidental Mutation

Incidental Mutation 'R8477:Aldh1l2'

657317

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 #

R8477 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

83487450-83534140 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 83501921 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Isoleucine at position 560 (T560I)

Ref Sequence

ENSEMBL: ENSMUSP00000117076 (fasta)

Gene Model

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

AlphaFold

Q8K009

Predicted Effect

probably damaging
Transcript: ENSMUST00000020497
AA Change: T673I

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000020497
Gene: ENSMUSG00000020256
AA Change: T673I

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: T560I

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000117076
Gene: ENSMUSG00000020256
AA Change: T560I

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

98% (60/61)

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: 62 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2610008E11Rik	G	A	10: 79,088,340	S94L	probably benign	Het
Ackr1	C	T	1: 173,332,188	G255R	probably damaging	Het
Arhgef25	A	T	10: 127,184,397	F384I	probably damaging	Het
Bptf	T	A	11: 107,052,853	Q2671L	probably damaging	Het
Ccdc159	A	G	9: 21,932,927	E95G	probably damaging	Het
Cenpf	A	T	1: 189,653,188	H2298Q	probably benign	Het
Chn2	G	T	6: 54,269,482		probably null	Het
Csnk1g1	T	C	9: 66,002,273	L224P	probably damaging	Het
Cyp2c54	T	A	19: 40,070,264	K241N	probably benign	Het
Cyp2c55	G	T	19: 39,011,041	V64L	probably damaging	Het
Dlgap1	A	C	17: 70,516,972	Q317H	probably damaging	Het
Dnaja3	A	G	16: 4,687,348	D108G	probably null	Het
Dpagt1	G	T	9: 44,332,093		probably null	Het
Dzip1	T	C	14: 118,901,546	R424G	possibly damaging	Het
E330014E10Rik	A	C	5: 95,801,708	M105L	probably benign	Het
Ero1lb	A	G	13: 12,601,783	K367R	probably benign	Het
Evi2	T	C	11: 79,516,065	Y228C	probably benign	Het
Exosc10	A	T	4: 148,565,390	I426L	possibly damaging	Het
Fam208b	A	G	13: 3,575,079	F1624L	probably benign	Het
Gba2	C	T	4: 43,569,944	R423Q	probably damaging	Het
Gm19965	A	C	1: 116,803,124		probably benign	Het
Gm4070	T	C	7: 105,898,926	K1640E	possibly damaging	Het
Gpr165	C	A	X: 96,714,017	D7E	probably benign	Het
Hc	A	T	2: 34,989,170	C1557S	probably damaging	Het
Hfm1	C	T	5: 106,881,818	S799N	probably benign	Het
Hibadh	A	T	6: 52,640,200	W17R	probably benign	Het
Hivep1	A	T	13: 42,184,220	T2592S	probably benign	Het
Ighv8-5	G	A	12: 115,067,580	T113I	probably benign	Het
Il2rb	A	T	15: 78,485,806	V211D	probably damaging	Het
Itgal	A	G	7: 127,300,933	Y121C	probably damaging	Het
Kirrel	T	C	3: 87,084,831	T597A	possibly damaging	Het
Lats1	A	G	10: 7,705,515	E688G	probably damaging	Het
Lbr	C	T	1: 181,816,974	A589T	possibly damaging	Het
Limch1	G	A	5: 66,974,565	V133I	probably benign	Het
Mast2	C	T	4: 116,307,210	A1670T	probably benign	Het
Mtcl1	A	T	17: 66,377,947	L949Q	probably benign	Het
Nlrp4a	T	C	7: 26,459,794	V833A	probably benign	Het
Olfr358	T	C	2: 37,005,048	T189A	probably benign	Het
Olfr945	A	T	9: 39,257,803	Y290N	probably damaging	Het
Osgep	C	A	14: 50,917,877	A75S	probably damaging	Het
Pank1	C	A	19: 34,878,655	R141L	probably benign	Het
Pcdhb20	T	A	18: 37,505,254	S278T	probably benign	Het
Pcdhgb8	C	A	18: 37,763,312	F478L	probably benign	Het
Peg10	C	CTCT	6: 4,756,453		probably benign	Het
Polr2a	G	A	11: 69,735,486	P1613S	probably benign	Het
Prom2	A	C	2: 127,539,204	S251A	probably benign	Het
R3hdm2	A	G	10: 127,484,160	H546R	probably damaging	Het
Reck	G	T	4: 43,891,011	V50L	probably benign	Het
Rerg	T	C	6: 137,056,186	T164A	probably benign	Het
Rho	T	A	6: 115,935,385		probably null	Het
Ric1	A	G	19: 29,597,783	T959A	probably damaging	Het
Slc28a3	T	A	13: 58,576,795	N215I	possibly damaging	Het
Slc2a5	G	A	4: 150,125,662	V35I	probably benign	Het
Srpk2	A	T	5: 23,513,988	S610T	probably benign	Het
Tmem147	T	A	7: 30,728,231	M86L	probably benign	Het
Trhde	A	G	10: 114,800,717	V195A	probably benign	Het
Trio	T	C	15: 27,773,952	S112G	possibly damaging	Het
U2af2	T	C	7: 5,075,694	V424A	probably benign	Het
Vmn2r27	T	C	6: 124,224,241	I252M	probably benign	Het
Wasf2	A	G	4: 133,185,101	E88G	unknown	Het
Zfp37	A	G	4: 62,192,003	C275R	probably damaging	Het
Zfp532	A	T	18: 65,624,066	I357F	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
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'- ATCAGTGACAGCCAGTTCC -3'
(R):5'- AGACTTACATCCATCAGTAAGGGG -3'

Sequencing Primer
(F):5'- ATACAGGGTCTCATGTAGTCCAG -3'
(R):5'- GAGGTGCTGACAGCCATAC -3'

Posted On

2021-01-18