Mutagenetix > Incidental Mutation

Incidental Mutation 'R1893:Aldh1l2'

211719

Institutional Source

Beutler Lab

Gene Symbol

Aldh1l2

Ensembl Gene

ENSMUSG00000020256

Gene Name

aldehyde dehydrogenase 1 family, member L2

Synonyms

MMRRC Submission

039913-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R1893 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

83487450-83534140 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 83492536 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Lysine at position 772 (N772K)

Ref Sequence

ENSEMBL: ENSMUSP00000117076 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000020488] [ENSMUST00000020497] [ENSMUST00000146640]

AlphaFold

Q8K009

Predicted Effect

probably benign
Transcript: ENSMUST00000020488

SMART Domains

Protein: ENSMUSP00000020488
Gene: ENSMUSG00000020255

Domain	Start	End	E-Value	Type
Pfam:DUF4598	68	175	1.9e-19	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000020497
AA Change: N885K

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

SMART Domains

Protein: ENSMUSP00000020497
Gene: ENSMUSG00000020256
AA Change: N885K

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

noncoding transcript
Transcript: ENSMUST00000141184

Predicted Effect

probably damaging
Transcript: ENSMUST00000146640
AA Change: N772K

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

SMART Domains

Protein: ENSMUSP00000117076
Gene: ENSMUSG00000020256
AA Change: N772K

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000147381

Meta Mutation Damage Score

0.9579

Coding Region Coverage

1x: 97.4%
3x: 96.8%
10x: 95.4%
20x: 93.0%

Validation Efficiency

99% (99/100)

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: 93 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2210408I21Rik	T	C	13: 77,267,809	Y674H	possibly damaging	Het
Aars2	G	A	17: 45,514,799	R347Q	probably benign	Het
Abca15	A	T	7: 120,340,553	M293L	possibly damaging	Het
Abcb7	A	T	X: 104,342,536	H97Q	probably damaging	Het
Ascc2	T	A	11: 4,672,305	L457Q	probably benign	Het
Aspm	T	A	1: 139,479,867	I2164N	probably damaging	Het
Cabs1	A	G	5: 87,980,035	T182A	probably benign	Het
Carmil1	T	C	13: 24,024,463	E833G	possibly damaging	Het
Ccdc102a	G	A	8: 94,913,543	T41M	probably damaging	Het
Clec2h	T	C	6: 128,670,832	V48A	probably benign	Het
Cpb2	G	A	14: 75,255,963	V27I	probably benign	Het
Cr2	T	C	1: 195,155,187	H1201R	probably benign	Het
Cyp2d9	T	C	15: 82,452,606	V52A	probably damaging	Het
Cyp4a12a	C	A	4: 115,326,667	N223K	probably benign	Het
Cyp7b1	G	A	3: 18,096,567	S336L	possibly damaging	Het
D230025D16Rik	G	T	8: 105,246,501	V248F	probably damaging	Het
Dnah10	T	C	5: 124,754,317	V803A	probably benign	Het
Dnah17	T	A	11: 118,066,968	T2745S	probably benign	Het
E330021D16Rik	A	G	6: 136,401,827	S2P	possibly damaging	Het
Ep300	T	A	15: 81,631,646		probably benign	Het
Epha3	A	G	16: 63,568,399	S829P	probably damaging	Het
Fads3	C	A	19: 10,056,504	H418N	probably benign	Het
Fat1	T	C	8: 45,023,856	S1980P	probably damaging	Het
Fgf20	T	C	8: 40,279,803	E198G	possibly damaging	Het
Fgl2	G	A	5: 21,375,671	R337H	probably benign	Het
Gbp2	G	T	3: 142,630,172		probably benign	Het
Gja10	G	A	4: 32,601,541	S281L	probably benign	Het
Gm5422	G	A	10: 31,249,613		noncoding transcript	Het
Gmpr	T	A	13: 45,520,947	D129E	possibly damaging	Het
Gtf3c4	C	T	2: 28,834,362	V453I	possibly damaging	Het
Heatr6	T	C	11: 83,757,314	V111A	probably benign	Het
Hipk3	G	A	2: 104,433,256	R905W	probably damaging	Het
Hpn	T	A	7: 31,099,348	D103V	probably damaging	Het
Ipcef1	G	A	10: 6,900,680	R304W	probably damaging	Het
Iqcb1	A	G	16: 36,831,883	D52G	probably damaging	Het
Klhdc7b	C	T	15: 89,387,695		probably null	Het
Klhl1	A	T	14: 96,240,206		probably null	Het
Lrrn1	A	T	6: 107,568,122	I294F	possibly damaging	Het
Map3k1	A	T	13: 111,768,033	F406I	possibly damaging	Het
Map4k4	T	A	1: 40,001,557	V579E	probably benign	Het
Mapre2	A	G	18: 23,853,717	K62R	probably damaging	Het
Mdga1	A	T	17: 29,849,226	Y305N	probably damaging	Het
Mgl2	T	A	11: 70,134,167		probably null	Het
Mnx1	C	T	5: 29,477,830	G149D	unknown	Het
Mtbp	T	A	15: 55,557,668	S17T	probably benign	Het
Neu3	T	C	7: 99,823,420	T37A	possibly damaging	Het
Nr1i3	T	C	1: 171,217,223		probably null	Het
Odf3l1	A	G	9: 56,849,214	Y173H	probably benign	Het
Olfr118	A	T	17: 37,672,856	K278*	probably null	Het
Olfr466	T	A	13: 65,152,992	M256K	possibly damaging	Het
Olfr522	T	C	7: 140,162,821	N43S	probably damaging	Het
Olfr981	A	T	9: 40,022,974	I194F	possibly damaging	Het
Osr2	A	G	15: 35,300,462	T55A	possibly damaging	Het
Palld	A	G	8: 61,516,621	V981A	probably damaging	Het
Pbx1	A	T	1: 168,203,410	M213K	possibly damaging	Het
Pcdhb12	C	A	18: 37,437,083	H427Q	probably benign	Het
Perm1	C	T	4: 156,217,883	R295C	probably benign	Het
Polm	T	C	11: 5,835,574	T162A	possibly damaging	Het
Prox1	A	G	1: 190,160,518		probably benign	Het
Ptpn7	A	T	1: 135,134,903	T127S	probably benign	Het
Pxk	C	T	14: 8,151,507	R441*	probably null	Het
Rab21	T	C	10: 115,290,900	T181A	probably benign	Het
Rab38	A	T	7: 88,490,716	T198S	probably benign	Het
Rnase4	C	G	14: 51,104,938	Q40E	possibly damaging	Het
Rnf213	T	A	11: 119,416,448	W645R	probably damaging	Het
Rnf8	A	G	17: 29,621,550	I51M	probably damaging	Het
Sbpl	T	A	17: 23,953,267	D226V	unknown	Het
Sdf4	T	G	4: 156,000,748	I180S	probably benign	Het
Simc1	A	G	13: 54,539,715	K99R	probably damaging	Het
Slc2a4	T	C	11: 69,946,572	Q49R	probably damaging	Het
Slco1a4	T	C	6: 141,834,616		probably null	Het
Slco5a1	C	A	1: 12,894,472	C527F	probably damaging	Het
Sox6	T	A	7: 115,544,568	N405I	probably benign	Het
Sphkap	G	A	1: 83,278,966	P354L	probably benign	Het
Spi1	A	G	2: 91,114,357	D149G	probably benign	Het
Sptan1	T	A	2: 30,020,460	D1812E	probably damaging	Het
Sub1	A	T	15: 11,991,044	V37E	possibly damaging	Het
Sult2a6	T	C	7: 14,225,889	T240A	probably benign	Het
Tacc2	A	G	7: 130,625,325	S1247G	probably benign	Het
Taf4	T	C	2: 179,933,030	D594G	probably damaging	Het
Tap1	T	G	17: 34,194,941	D643E	probably damaging	Het
Ticam1	T	C	17: 56,271,894	N67S	probably benign	Het
Tlr6	A	G	5: 64,953,213	F784L	probably damaging	Het
Tmprss15	A	G	16: 79,071,418	V202A	probably benign	Het
Trp53bp2	T	C	1: 182,431,628	V82A	probably benign	Het
Ube2o	C	T	11: 116,548,835	V170I	possibly damaging	Het
Vmn1r177	G	A	7: 23,866,148	T101I	probably benign	Het
Vmn2r68	A	T	7: 85,234,659	Y79*	probably null	Het
Wdr35	A	C	12: 8,985,994	Y255S	probably benign	Het
Zfp507	A	T	7: 35,802,627		probably benign	Het
Zfp688	G	A	7: 127,419,237	R239C	probably damaging	Het
Zfp74	T	A	7: 29,936,045		probably null	Het
Zfp932	A	G	5: 110,009,203	N223D	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
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
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'- GATGCTGTCTTAATAGGTAGTCAATGG -3'
(R):5'- TGTTTTAACGTGCAGGAAACCTTC -3'

Sequencing Primer
(F):5'- AATGGTTTTTAAGTTTTTCACCGTCC -3'
(R):5'- GTGCAGGAAACCTTCAAACAAAG -3'

Posted On

2014-06-30