Mutagenetix > Incidental Mutations

Incidental Mutation 'R8884:Aldh1l2'

677181

Institutional Source

Beutler Lab

Gene Symbol

Aldh1l2

Ensembl Gene

ENSMUSG00000020256

Gene Name

aldehyde dehydrogenase 1 family, member L2

Synonyms

MMRRC Submission

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R8884 (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 83508677 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Serine at position 448 (N448S)

Ref Sequence

ENSEMBL: ENSMUSP00000020497 (fasta)

Gene Model

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

AlphaFold

Q8K009

Predicted Effect

probably benign
Transcript: ENSMUST00000020497
AA Change: N448S

PolyPhen 2 Score 0.017 (Sensitivity: 0.95; Specificity: 0.80)

SMART Domains

Protein: ENSMUSP00000020497
Gene: ENSMUSG00000020256
AA Change: N448S

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
AA Change: N335S

PolyPhen 2 Score 0.017 (Sensitivity: 0.95; Specificity: 0.80)

SMART Domains

Protein: ENSMUSP00000117076
Gene: ENSMUSG00000020256
AA Change: N335S

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: 99.9%
10x: 99.5%
20x: 98.2%

Validation Efficiency

98% (65/66)

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: 67 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930522L14Rik	A	T	5: 109,737,488	F168Y	probably damaging	Het
4932415D10Rik	T	A	10: 82,283,652	H4508L	probably damaging	Het
4932438H23Rik	T	C	16: 91,055,849	Y133C	probably damaging	Het
Aasdh	A	G	5: 76,891,794	S223P	possibly damaging	Het
Abca8a	T	C	11: 110,074,115	D453G	possibly damaging	Het
Acsl6	T	A	11: 54,345,902	F541I	probably damaging	Het
Agfg1	A	T	1: 82,882,389	K326*	probably null	Het
Alx4	A	G	2: 93,643,010	K118E	possibly damaging	Het
Atp9b	T	A	18: 80,795,347	T451S		Het
B4galt6	A	T	18: 20,689,015	N307K	probably benign	Het
Cacna1s	G	A	1: 136,115,243	M1569I	probably benign	Het
Cacng6	C	T	7: 3,430,468	T121I	probably damaging	Het
Cdc5l	C	A	17: 45,433,541		probably benign	Het
Cdh7	A	T	1: 110,100,130	D535V	probably damaging	Het
Chrnb3	T	C	8: 27,393,918	F228L	possibly damaging	Het
Clca1	A	T	3: 145,013,996	D404E	probably benign	Het
Commd8	G	A	5: 72,168,171		probably benign	Het
Cpn1	T	A	19: 43,966,176	Q337L	possibly damaging	Het
Dctn6	T	C	8: 34,090,779	T180A	probably benign	Het
Ddx60	A	G	8: 61,994,519	E1180G	possibly damaging	Het
Dock4	T	A	12: 40,806,885	L1239Q	probably damaging	Het
Dopey2	T	C	16: 93,759,662	I469T	probably benign	Het
Enpep	A	T	3: 129,321,403	I240N	possibly damaging	Het
Fat3	G	A	9: 16,029,984	T1337I	probably damaging	Het
Fbxw13	T	A	9: 109,181,401	M390L	probably benign	Het
Fgr	C	T	4: 132,986,298	P46S	probably benign	Het
Galnt1	T	A	18: 24,267,584	M249K	probably benign	Het
Gm40460	A	T	7: 142,240,818	C87*	probably null	Het
Hcn4	C	T	9: 58,853,422	R417C	unknown	Het
Insr	T	C	8: 3,155,679	N1370S	probably benign	Het
Itpr3	G	A	17: 27,118,677		probably benign	Het
Kif14	G	A	1: 136,486,351	E722K		Het
Larp6	G	A	9: 60,713,399	G65E		Het
Mindy4	T	C	6: 55,278,238	L567P	probably benign	Het
Mmp1a	TG	TGG	9: 7,465,083		probably null	Het
Muc16	G	A	9: 18,644,200	T3599I	unknown	Het
Muc5b	T	C	7: 141,849,419	F706L	unknown	Het
Nbea	A	T	3: 55,805,299	M2119K	probably benign	Het
Olfr46	C	T	7: 140,610,703	P171L	probably damaging	Het
Olfr538	A	T	7: 140,574,311	T53S	probably benign	Het
Paip1	G	A	13: 119,438,017	V83I	probably damaging	Het
Pdcd1lg2	G	T	19: 29,445,918		probably null	Het
Pde7a	G	A	3: 19,227,694	A464V	probably benign	Het
Pfkfb2	A	G	1: 130,706,476	F155L	probably damaging	Het
Pimreg	A	G	11: 72,045,687	D192G	possibly damaging	Het
Prkd3	T	C	17: 78,974,764	D320G	probably damaging	Het
Rgs7	A	G	1: 175,153,164	V98A	probably benign	Het
Ric3	C	T	7: 109,038,481	G356D	probably benign	Het
Rsph4a	T	C	10: 33,905,844		probably benign	Het
Ryr2	G	A	13: 11,779,266	T942I	probably benign	Het
Sez6l	T	C	5: 112,475,044	T214A	probably damaging	Het
Sipa1l1	T	G	12: 82,363,097	V595G	probably damaging	Het
Spta1	G	T	1: 174,217,688		probably null	Het
Ssbp2	A	G	13: 91,688,870		probably benign	Het
Syne1	T	G	10: 5,231,822	Q4171P	possibly damaging	Het
Tgfb2	G	A	1: 186,632,710	T232I	probably damaging	Het
Tmem175	A	G	5: 108,646,461	S486G	probably benign	Het
Tmprss15	A	G	16: 79,024,769	V466A	probably benign	Het
Treh	C	G	9: 44,684,503		probably benign	Het
Ttc14	A	G	3: 33,800,547	S8G	unknown	Het
Ttc32	T	A	12: 9,038,083	D103E	probably benign	Het
Vmn1r44	T	C	6: 89,893,476	L68P	probably damaging	Het
Vmn2r37	T	G	7: 9,215,917	L489F	probably benign	Het
Vmn2r52	T	A	7: 10,158,807	T802S	probably damaging	Het
Wsb2	T	A	5: 117,370,704	F68I	probably benign	Het
Zbtb8os	T	C	4: 129,343,131	V113A	probably benign	Het
Zfp354a	A	T	11: 51,059,978		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
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
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'- TGCACACAGGGATCTGCTAG -3'
(R):5'- AGCTGACCTCTTTCCACATTAGTG -3'

Sequencing Primer
(F):5'- AGGGATCTGCTAGGCACTGATC -3'
(R):5'- GGTCAGTATATGTCACCAGATGCC -3'

Posted On

2021-08-02