Mutagenetix > Incidental Mutation

Incidental Mutation 'R8311:Aldh1l2'

641386

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 #

R8311 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

83487450-83534140 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 83490615 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Aspartic acid at position 912 (E912D)

Ref Sequence

ENSEMBL: ENSMUSP00000020497 (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: E912D

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000020497
Gene: ENSMUSG00000020256
AA Change: E912D

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: E799D

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000117076
Gene: ENSMUSG00000020256
AA Change: E799D

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: 99.6%
20x: 98.8%

Validation Efficiency

100% (53/53)

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: 55 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700022I11Rik	T	C	4: 42,973,169	V834A	probably benign	Het
2700049A03Rik	A	G	12: 71,138,041		probably benign	Het
4930407I10Rik	T	C	15: 82,063,239	W446R	possibly damaging	Het
Apol9a	T	C	15: 77,405,020	D49G	possibly damaging	Het
Bnc2	A	T	4: 84,276,345	D847E	possibly damaging	Het
Ccdc91	A	G	6: 147,535,616	N100S	possibly damaging	Het
Copb2	G	T	9: 98,568,019	K10N	possibly damaging	Het
Cyp4a14	A	G	4: 115,491,078	S401P	probably damaging	Het
Cyp4f15	A	T	17: 32,697,940	Q277L	probably benign	Het
Dmxl2	A	T	9: 54,446,933	S410T	probably benign	Het
Dnah9	T	C	11: 65,989,818	N2651S	probably benign	Het
Efhb	A	G	17: 53,413,461		probably null	Het
Eif4ebp1	T	A	8: 27,275,096	F113L	probably damaging	Het
Emilin2	C	G	17: 71,255,146	D954H	probably damaging	Het
Eng	A	G	2: 32,678,993	T511A	probably benign	Het
Eps8l1	A	G	7: 4,471,818	D266G	probably damaging	Het
Fam120a	T	C	13: 48,933,957	H309R	possibly damaging	Het
Gga3	A	T	11: 115,587,008	S585T	probably benign	Het
Gm12117	T	C	11: 33,276,126	Q70R	probably damaging	Het
Gm15922	T	C	7: 3,736,483	D462G	probably benign	Het
Gpr158	A	G	2: 21,368,890	H212R	probably benign	Het
Hmgb1	A	G	5: 149,050,617	F41L	possibly damaging	Het
Iqcm	T	A	8: 75,753,490		probably benign	Het
Itgav	T	A	2: 83,765,777	I214N	probably damaging	Het
Kcna1	T	A	6: 126,642,292	H355L	probably benign	Het
Lrrc37a	C	T	11: 103,503,421	V393I	probably benign	Het
Mak16	T	C	8: 31,168,669	D4G	probably damaging	Het
Metap2	C	T	10: 93,861,522	R432H	possibly damaging	Het
Nlrc4	G	A	17: 74,446,545	T281M	probably damaging	Het
Ntrk1	T	A	3: 87,781,563	Q561L	probably damaging	Het
Olfr1328	A	C	4: 118,934,150	S231A	probably damaging	Het
Olfr1493-ps1	A	G	19: 13,726,671	T137A	possibly damaging	Het
Polr2a	T	C	11: 69,737,456	I1304V	probably null	Het
Ppp4r2	T	C	6: 100,866,382	S354P	probably benign	Het
Ptchd3	A	G	11: 121,836,473	H391R	possibly damaging	Het
Rchy1	T	C	5: 91,951,903	D192G	probably damaging	Het
Rmdn1	T	C	4: 19,575,329		probably null	Het
Rp1	T	A	1: 4,348,349	I847L	probably benign	Het
Rtn1	T	C	12: 72,304,064	E457G	probably damaging	Het
Serpind1	G	A	16: 17,342,866	S420N	possibly damaging	Het
Sirpa	T	C	2: 129,616,223	V253A	probably damaging	Het
Snapc4	A	T	2: 26,378,534	F38L	probably benign	Het
Srcap	T	C	7: 127,557,797	F2321S	probably damaging	Het
Stat4	A	T	1: 52,102,916	I641F	probably damaging	Het
Tmem216	A	T	19: 10,551,827	F65Y	probably benign	Het
Tmem37	C	T	1: 120,068,252	V32M	possibly damaging	Het
Tmprss11c	T	G	5: 86,235,553	Q338P	probably damaging	Het
Tonsl	C	T	15: 76,633,263	S752N	probably benign	Het
Vmn1r26	T	C	6: 58,008,533	K224E	probably benign	Het
Vps13b	T	A	15: 35,886,954	V3229D	probably benign	Het
Vwa5b2	C	T	16: 20,591,222	R21W	probably damaging	Het
Wdr37	T	C	13: 8,853,573	R165G	unknown	Het
Yars2	T	C	16: 16,307,283	F388L	probably benign	Het
Ykt6	T	A	11: 5,962,366	D106E	probably benign	Het
Zc3h12a	A	C	4: 125,126,995	S18R	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
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
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'- AGGCCCTCAGTCAGGTAAATG -3'
(R):5'- GTTCATCATGGTCTATGGTCCC -3'

Sequencing Primer
(F):5'- TGCTCATACAAGTGGTCTAACC -3'
(R):5'- ATGGTCTATGGTCCCCAAACATCTG -3'

Posted On

2020-07-28