Mutagenetix > Incidental Mutation

Incidental Mutation 'R2290:Aldh1l2'

244284

Institutional Source

Beutler Lab

Gene Symbol

Aldh1l2

Ensembl Gene

ENSMUSG00000020256

Gene Name

aldehyde dehydrogenase 1 family, member L2

Synonyms

MMRRC Submission

040289-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R2290 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

83487450-83534140 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 83527313 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 62 (D62G)

Ref Sequence

ENSEMBL: ENSMUSP00000020497 (fasta)

Gene Model

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

AlphaFold

Q8K009

Predicted Effect

probably damaging
Transcript: ENSMUST00000020497
AA Change: D62G

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

SMART Domains

Protein: ENSMUSP00000020497
Gene: ENSMUSG00000020256
AA Change: D62G

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

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

Meta Mutation Damage Score

0.4547

Coding Region Coverage

1x: 99.1%
3x: 98.6%
10x: 97.3%
20x: 95.2%

Validation Efficiency

100% (73/73)

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: 70 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ambp	T	C	4: 63,143,687	Y335C	probably damaging	Het
Arid4a	G	T	12: 71,061,541	G40V	probably damaging	Het
Asb13	G	A	13: 3,649,418	G206D	probably damaging	Het
Ccdc7b	A	G	8: 129,131,106		probably benign	Het
Cdh15	A	T	8: 122,859,317	N145I	probably damaging	Het
Celsr3	T	C	9: 108,843,224	I2565T	probably damaging	Het
Cfap43	A	T	19: 47,773,135	M840K	probably damaging	Het
Clip4	T	C	17: 71,810,953	V331A	possibly damaging	Het
Cnnm1	A	G	19: 43,491,502	T829A	probably benign	Het
Col24a1	G	A	3: 145,513,195	G1457E	probably damaging	Het
D6Ertd527e	A	G	6: 87,111,545	N230S	unknown	Het
Dll1	T	C	17: 15,374,748	D89G	probably benign	Het
Dst	T	A	1: 34,229,200	V2901E	probably damaging	Het
Dvl1	G	A	4: 155,847,816	V28I	possibly damaging	Het
Efl1	A	T	7: 82,777,670	K1125N	probably damaging	Het
Efr3a	T	A	15: 65,849,839	F437L	probably benign	Het
Eqtn	GTTCTTCTTC	GTTCTTC	4: 94,926,942		probably benign	Het
Ermp1	T	C	19: 29,623,778	D523G	probably damaging	Het
Gm38999	A	G	7: 43,427,699	E5G	probably benign	Het
Gm5828	C	T	1: 16,768,344		noncoding transcript	Het
Gnas	T	C	2: 174,300,010	F717L	probably benign	Het
H6pd	T	A	4: 149,981,881	S683C	probably damaging	Het
Il23r	G	A	6: 67,423,861	T495I	probably benign	Het
Itpr2	T	C	6: 146,422,828	N135D	probably damaging	Het
Kcns2	T	A	15: 34,838,509	L6Q	possibly damaging	Het
Khdrbs3	C	T	15: 69,029,761	R132C	probably damaging	Het
Kif2b	A	G	11: 91,575,696	V587A	probably benign	Het
Kng1	A	T	16: 23,079,125	H425L	possibly damaging	Het
Letm1	A	AG	5: 33,769,515		probably null	Het
Lrrc8e	T	C	8: 4,231,770	M35T	probably damaging	Het
Med12l	A	G	3: 59,244,938	N1048S	probably damaging	Het
Mex3c	A	C	18: 73,590,693	N619T	probably damaging	Het
Mfsd4b1	G	A	10: 40,003,331	T190I	probably damaging	Het
Ncam1	A	G	9: 49,523,651		probably benign	Het
Nlrp6	G	A	7: 140,922,163	G133S	probably damaging	Het
Olfr1385	A	G	11: 49,495,030	M166V	probably benign	Het
Olfr385	G	T	11: 73,588,919	A273D	probably benign	Het
Olfr957	A	G	9: 39,511,678	L14P	possibly damaging	Het
Olfr994	C	T	2: 85,430,200	V210M	possibly damaging	Het
Oplah	A	G	15: 76,302,725	V630A	probably benign	Het
Papd5	T	C	8: 88,251,975	S435P	probably damaging	Het
Pcnx2	A	T	8: 125,877,595		probably benign	Het
Pkhd1l1	A	T	15: 44,528,250	T1571S	probably benign	Het
Pramef12	T	A	4: 144,394,699	T252S	probably benign	Het
Pramef12	G	T	4: 144,395,122	H111N	probably benign	Het
Prr22	T	G	17: 56,771,884	F346V	probably benign	Het
Prr30	T	C	14: 101,198,775	N117S	possibly damaging	Het
Ptgfrn	A	G	3: 101,077,361	S172P	possibly damaging	Het
Ptprc	C	T	1: 138,111,188	V364I	probably benign	Het
Ptprz1	T	C	6: 23,000,991	S1027P	probably damaging	Het
Rinl	T	C	7: 28,792,271	V83A	probably benign	Het
Ros1	A	T	10: 52,118,381	S1268T	probably damaging	Het
Scly	T	C	1: 91,298,450		probably null	Het
Slc25a1	C	T	16: 17,925,848	V186M	possibly damaging	Het
Stk36	T	G	1: 74,626,144		probably benign	Het
Syn2	A	G	6: 115,274,229	T449A	possibly damaging	Het
Tecpr1	T	C	5: 144,214,063	D309G	probably damaging	Het
Tns2	T	A	15: 102,112,023	Y775N	probably damaging	Het
Tril	G	T	6: 53,818,027	R737S	probably damaging	Het
Ttl	G	A	2: 129,081,270	G177D	possibly damaging	Het
Twf1	A	G	15: 94,586,519	S41P	probably damaging	Het
Unc79	C	T	12: 103,146,366	T2174M	probably damaging	Het
Vangl2	T	A	1: 172,008,546	K340*	probably null	Het
Vmn2r72	T	A	7: 85,738,341	T672S	probably damaging	Het
Vwa7	A	G	17: 35,017,211	D47G	probably damaging	Het
Zc3h12d	A	G	10: 7,867,459	H331R	probably benign	Het
Zfa-ps	T	C	10: 52,545,016		noncoding transcript	Het
Zfp141	A	T	7: 42,475,225	C608S	probably damaging	Het
Zfp422	A	G	6: 116,626,642	I132T	possibly damaging	Het
Zfp652	A	G	11: 95,750,023	Y258C	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
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'- TGAGTATATGCACATGCCCATG -3'
(R):5'- CTGTCCACAGCAATTGTTGTC -3'

Sequencing Primer
(F):5'- TATGAACTAGGTCCTCAAGCTCAGG -3'
(R):5'- GTCCACAGCAATTGTTGTCACTATAC -3'

Posted On

2014-10-30