Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01354:Aldh1l2'

75483

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Aldh1l2

Ensembl Gene

ENSMUSG00000020256

Gene Name

aldehyde dehydrogenase 1 family, member L2

Synonyms

D330038I09Rik

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL01354

Quality Score

Status

Chromosome

Chromosomal Location

83323314-83370004 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 83363240 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Proline at position 41 (L41P)

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: L41P

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

SMART Domains

Protein: ENSMUSP00000020497
Gene: ENSMUSG00000020256
AA Change: L41P

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

Coding Region Coverage

Validation Efficiency

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: 27 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Baz2b	T	C	2: 59,799,233 (GRCm39)	Q297R	probably benign	Het
Chl1	A	T	6: 103,642,814 (GRCm39)	Q184L	probably benign	Het
Cyp2a5	A	G	7: 26,536,528 (GRCm39)	D169G	possibly damaging	Het
Cyp2d34	G	A	15: 82,501,823 (GRCm39)	T229M	probably benign	Het
Fgd5	C	T	6: 92,038,824 (GRCm39)	R995*	probably null	Het
Gaa	T	C	11: 119,161,394 (GRCm39)	S146P	probably benign	Het
Gm11437	T	A	11: 84,058,144 (GRCm39)		probably benign	Het
Inpp5a	T	C	7: 139,118,150 (GRCm39)	F235L	probably damaging	Het
Lpp	T	A	16: 24,580,816 (GRCm39)	Y177*	probably null	Het
Malt1	A	G	18: 65,608,262 (GRCm39)	Y654C	probably damaging	Het
Or2y10	T	C	11: 49,455,024 (GRCm39)	I92T	probably damaging	Het
Or4k52	A	C	2: 111,611,246 (GRCm39)	N194H	possibly damaging	Het
Or8b4	G	A	9: 37,830,840 (GRCm39)	V301I	possibly damaging	Het
Otog	A	G	7: 45,939,150 (GRCm39)	N2060S	probably damaging	Het
Phc1	G	A	6: 122,311,042 (GRCm39)	T98I	probably damaging	Het
Pik3cb	A	G	9: 98,946,221 (GRCm39)	I535T	possibly damaging	Het
Plxna2	A	G	1: 194,444,743 (GRCm39)	I712V	probably benign	Het
Psmc2	A	G	5: 22,000,834 (GRCm39)	E103G	possibly damaging	Het
Ptprb	A	G	10: 116,179,796 (GRCm39)	I1405V	probably benign	Het
Ralgapa1	T	C	12: 55,824,101 (GRCm39)	N260D	possibly damaging	Het
Reln	G	A	5: 22,124,173 (GRCm39)	Q2778*	probably null	Het
Slco1a8	T	C	6: 141,936,134 (GRCm39)	N317S	probably benign	Het
Sptlc1	T	A	13: 53,487,987 (GRCm39)	Q452L	probably benign	Het
Traf4	C	A	11: 78,056,226 (GRCm39)	R14L	possibly damaging	Het
Ubap2	T	C	4: 41,207,005 (GRCm39)	E191G	probably damaging	Het
Vstm4	A	T	14: 32,641,202 (GRCm39)	T262S	probably benign	Het
Zrsr2-ps1	T	A	11: 22,924,190 (GRCm39)	H321Q	probably damaging	Het

Other mutations in Aldh1l2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01152:Aldh1l2	APN	10	83,358,750 (GRCm39)	nonsense	probably null
IGL01154:Aldh1l2	APN	10	83,356,237 (GRCm39)	missense	probably damaging	1.00
IGL01301:Aldh1l2	APN	10	83,358,710 (GRCm39)	missense	probably damaging	1.00
IGL01364:Aldh1l2	APN	10	83,328,531 (GRCm39)	missense	probably damaging	1.00
IGL01445:Aldh1l2	APN	10	83,356,126 (GRCm39)	splice site	probably benign
IGL02179:Aldh1l2	APN	10	83,358,701 (GRCm39)	missense	probably benign	0.10
IGL02283:Aldh1l2	APN	10	83,331,759 (GRCm39)	missense	probably benign	0.00
IGL02507:Aldh1l2	APN	10	83,328,448 (GRCm39)	nonsense	probably null
IGL02727:Aldh1l2	APN	10	83,342,469 (GRCm39)	missense	probably damaging	1.00
IGL03353:Aldh1l2	APN	10	83,358,777 (GRCm39)	missense	probably benign	0.17
Hunger_winter	UTSW	10	83,343,877 (GRCm39)	critical splice donor site	probably null
Spartan	UTSW	10	83,348,170 (GRCm39)	missense	possibly damaging	0.93
ANU18:Aldh1l2	UTSW	10	83,358,710 (GRCm39)	missense	probably damaging	1.00
IGL02984:Aldh1l2	UTSW	10	83,363,199 (GRCm39)	missense	probably damaging	1.00
R0267:Aldh1l2	UTSW	10	83,358,551 (GRCm39)	splice site	probably benign
R0302:Aldh1l2	UTSW	10	83,356,229 (GRCm39)	missense	probably damaging	1.00
R0349:Aldh1l2	UTSW	10	83,326,478 (GRCm39)	missense	probably damaging	1.00
R0468:Aldh1l2	UTSW	10	83,354,542 (GRCm39)	missense	probably benign	0.01
R0745:Aldh1l2	UTSW	10	83,354,494 (GRCm39)	splice site	probably null
R0788:Aldh1l2	UTSW	10	83,352,028 (GRCm39)	missense	probably damaging	1.00
R1117:Aldh1l2	UTSW	10	83,344,487 (GRCm39)	missense	probably benign	0.01
R1241:Aldh1l2	UTSW	10	83,331,889 (GRCm39)	missense	probably benign	0.00
R1420:Aldh1l2	UTSW	10	83,331,799 (GRCm39)	missense	probably damaging	1.00
R1490:Aldh1l2	UTSW	10	83,356,234 (GRCm39)	missense	probably damaging	1.00
R1704:Aldh1l2	UTSW	10	83,344,524 (GRCm39)	missense	probably benign	0.10
R1729:Aldh1l2	UTSW	10	83,343,946 (GRCm39)	nonsense	probably null
R1893:Aldh1l2	UTSW	10	83,328,400 (GRCm39)	missense	probably damaging	1.00
R1897:Aldh1l2	UTSW	10	83,338,389 (GRCm39)	missense	probably damaging	1.00
R2047:Aldh1l2	UTSW	10	83,342,607 (GRCm39)	missense	probably damaging	1.00
R2290:Aldh1l2	UTSW	10	83,363,177 (GRCm39)	missense	probably damaging	1.00
R3054:Aldh1l2	UTSW	10	83,338,336 (GRCm39)	missense	probably benign	0.14
R3055:Aldh1l2	UTSW	10	83,338,336 (GRCm39)	missense	probably benign	0.14
R4097:Aldh1l2	UTSW	10	83,348,228 (GRCm39)	missense	probably damaging	0.98
R4162:Aldh1l2	UTSW	10	83,342,518 (GRCm39)	missense	possibly damaging	0.50
R4295:Aldh1l2	UTSW	10	83,331,784 (GRCm39)	missense	possibly damaging	0.62
R4296:Aldh1l2	UTSW	10	83,358,641 (GRCm39)	missense	probably benign	0.34
R4388:Aldh1l2	UTSW	10	83,349,486 (GRCm39)	missense	probably damaging	1.00
R4809:Aldh1l2	UTSW	10	83,342,496 (GRCm39)	missense	probably damaging	1.00
R5052:Aldh1l2	UTSW	10	83,344,556 (GRCm39)	missense	possibly damaging	0.92
R5421:Aldh1l2	UTSW	10	83,363,271 (GRCm39)	missense	probably damaging	1.00
R5491:Aldh1l2	UTSW	10	83,358,649 (GRCm39)	missense	probably benign	0.00
R5688:Aldh1l2	UTSW	10	83,337,789 (GRCm39)	missense	possibly damaging	0.93
R5726:Aldh1l2	UTSW	10	83,348,170 (GRCm39)	missense	possibly damaging	0.93
R5737:Aldh1l2	UTSW	10	83,356,189 (GRCm39)	missense	probably damaging	1.00
R5752:Aldh1l2	UTSW	10	83,356,244 (GRCm39)	missense	probably damaging	1.00
R6113:Aldh1l2	UTSW	10	83,343,998 (GRCm39)	nonsense	probably null
R6161:Aldh1l2	UTSW	10	83,356,202 (GRCm39)	missense	probably benign	0.00
R6166:Aldh1l2	UTSW	10	83,329,288 (GRCm39)	splice site	probably null
R6189:Aldh1l2	UTSW	10	83,343,877 (GRCm39)	critical splice donor site	probably null
R7357:Aldh1l2	UTSW	10	83,350,408 (GRCm39)	missense	possibly damaging	0.89
R7394:Aldh1l2	UTSW	10	83,338,321 (GRCm39)	missense	probably damaging	1.00
R7469:Aldh1l2	UTSW	10	83,343,969 (GRCm39)	missense	probably damaging	1.00
R7676:Aldh1l2	UTSW	10	83,343,975 (GRCm39)	missense	probably benign
R7848:Aldh1l2	UTSW	10	83,335,707 (GRCm39)	missense	probably benign	0.12
R7958:Aldh1l2	UTSW	10	83,356,202 (GRCm39)	missense	probably benign	0.00
R8311:Aldh1l2	UTSW	10	83,326,479 (GRCm39)	missense	probably damaging	1.00
R8477:Aldh1l2	UTSW	10	83,337,785 (GRCm39)	missense	probably damaging	1.00
R8730:Aldh1l2	UTSW	10	83,342,506 (GRCm39)	missense	possibly damaging	0.94
R8884:Aldh1l2	UTSW	10	83,344,541 (GRCm39)	missense	probably benign	0.02
R9117:Aldh1l2	UTSW	10	83,342,545 (GRCm39)	missense	probably benign	0.41
R9239:Aldh1l2	UTSW	10	83,342,496 (GRCm39)	missense	probably damaging	1.00
R9335:Aldh1l2	UTSW	10	83,342,510 (GRCm39)	missense	probably damaging	0.96
R9368:Aldh1l2	UTSW	10	83,331,816 (GRCm39)	nonsense	probably null
R9784:Aldh1l2	UTSW	10	83,342,614 (GRCm39)	critical splice acceptor site	probably null
Z1177:Aldh1l2	UTSW	10	83,369,869 (GRCm39)	missense	probably benign
Z1177:Aldh1l2	UTSW	10	83,329,344 (GRCm39)	missense	probably damaging	1.00

Posted On

2013-10-07