Mutagenetix > Incidental Mutation

Incidental Mutation 'R7958:Aldh1l2'

649958

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 #

R7958 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

83487450-83534140 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 83520338 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Valine to Isoleucine at position 63 (V63I)

Ref Sequence

ENSEMBL: ENSMUSP00000117076 (fasta)

Gene Model

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

AlphaFold

Q8K009

Predicted Effect

probably benign
Transcript: ENSMUST00000020497
AA Change: V176I

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)

SMART Domains

Protein: ENSMUSP00000020497
Gene: ENSMUSG00000020256
AA Change: V176I

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
AA Change: V63I

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)

SMART Domains

Protein: ENSMUSP00000117076
Gene: ENSMUSG00000020256
AA Change: V63I

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

0.1303

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 98.9%

Validation Efficiency

100% (55/55)

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: 56 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930430A15Rik	T	C	2: 111,170,325	E183G	unknown	Het
4930590J08Rik	A	T	6: 91,934,483	T571S	probably benign	Het
Abca8a	A	G	11: 110,031,672	Y1362H	probably damaging	Het
Alg8	T	C	7: 97,386,921	C340R	possibly damaging	Het
BC028528	T	C	3: 95,888,912	D46G	probably benign	Het
Cdh5	A	T	8: 104,113,017	H40L	probably benign	Het
Cul3	T	C	1: 80,271,557	T666A	probably benign	Het
Cwc27	T	C	13: 104,804,964	D150G	probably benign	Het
Cyp2a12	T	A	7: 27,029,252	N49K	probably benign	Het
Dhrs4	T	C	14: 55,487,621	L191P	probably damaging	Het
Dusp9	TAAAGCGGAGGCCAAAGCGGAGGCCAAAGCGGAGGCTAAAGCGGAGGCCAAAGCGGAGGCCAAAGCGGAGGCCAAAGCGGAGGCTAAAGCGGAGGCCAAAGCGGAGGCCAAAG	TAAAGCGGAGGCCAAAGCGGAGGCCAAAGCGGAGGCTAAAGCGGAGGCCAAAGCGGAGGCCAAAG	X: 73,640,611		probably benign	Het
Fam171a1	T	A	2: 3,178,261	S41R	probably damaging	Het
Fam186a	A	T	15: 99,943,308	L1685H	probably damaging	Het
Fgfr1	G	T	8: 25,532,342	W2L	probably benign	Het
Fpr-rs6	T	A	17: 20,182,443	I219F	probably damaging	Het
Gm28360	T	A	1: 117,853,679	C133*	probably null	Het
Herc1	A	G	9: 66,486,193	D4118G	probably damaging	Het
Hhatl	A	G	9: 121,784,586		probably null	Het
Inpp4b	T	A	8: 81,969,589	L384H	probably damaging	Het
Klhl12	G	A	1: 134,467,717	R139K	probably benign	Het
Klrg1	T	A	6: 122,271,372	*189C	probably null	Het
Krtap19-4	A	G	16: 88,884,945	F41S	unknown	Het
Lifr	T	C	15: 7,181,997	V672A	possibly damaging	Het
Lrrc25	A	G	8: 70,617,847	T93A	possibly damaging	Het
Map7	T	A	10: 20,229,829	S9T	unknown	Het
Mycbp2	A	T	14: 103,129,964	F4281L	probably benign	Het
Myh10	A	G	11: 68,721,347	I162V	probably benign	Het
Myo18a	T	C	11: 77,841,557	V1293A	probably damaging	Het
Nipbl	A	G	15: 8,311,258	S1993P	possibly damaging	Het
Nrp2	C	T	1: 62,745,408	R239C	probably damaging	Het
Oas2	C	T	5: 120,748,766	E112K	probably benign	Het
Olfr151	A	G	9: 37,730,386	F199S	probably damaging	Het
Oosp3	A	T	19: 11,705,456	I163F	probably benign	Het
Phkb	G	T	8: 86,021,663	E710D	probably benign	Het
Plekhg4	A	T	8: 105,376,649	D318V	possibly damaging	Het
Ptprj	T	C	2: 90,469,627	I277V	possibly damaging	Het
Ranbp17	A	G	11: 33,487,702	S179P	probably damaging	Het
Scaf8	G	A	17: 3,171,122	V295M	unknown	Het
Scn3a	T	A	2: 65,506,193	I690F	probably damaging	Het
Serpinb1b	A	T	13: 33,089,653	K110N	possibly damaging	Het
Sgsh	T	C	11: 119,352,773	N41S	probably damaging	Het
Sh2d1b1	A	G	1: 170,283,135	T67A	probably benign	Het
Skint5	A	T	4: 113,623,783	L958M	unknown	Het
Spg11	T	A	2: 122,092,945		probably null	Het
Spo11	T	A	2: 172,984,022	D84E	probably benign	Het
Spta1	G	A	1: 174,174,390	E29K	probably benign	Het
Srrm2	T	C	17: 23,821,312	V2310A	probably benign	Het
Tbc1d30	C	A	10: 121,272,057	R480L	probably benign	Het
Tbpl2	A	T	2: 24,095,067		probably null	Het
Tjp3	C	T	10: 81,282,994	V69I	possibly damaging	Het
Ube3b	T	C	5: 114,401,423	V425A	probably benign	Het
Vmn1r151	A	T	7: 22,499,067	S204R	probably damaging	Het
Vmn1r42	A	T	6: 89,845,077	I170N	probably damaging	Het
Vmn1r65	A	G	7: 6,008,255	S327P	probably benign	Het
Vmn2r104	T	C	17: 20,042,726	I158V	probably benign	Het
Wdr49	T	A	3: 75,431,147	M21L	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
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'- CCGTCACAGACTTTCAAGCTCC -3'
(R):5'- AGGCCACTATCTGCGTTTGC -3'

Sequencing Primer
(F):5'- GCTCCAATTTACATTACAGCCATGTG -3'
(R):5'- GCGTTTGCAATGTAACCTCC -3'

Posted On

2020-09-15