Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02283:Aldh1l2'

289916

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 #

IGL02283

Quality Score

Status

Chromosome

Chromosomal Location

83323314-83370004 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 83331759 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Cysteine at position 682 (Y682C)

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: Y795C

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000020497
Gene: ENSMUSG00000020256
AA Change: Y795C

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

noncoding transcript
Transcript: ENSMUST00000141184

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000143793

Predicted Effect

probably benign
Transcript: ENSMUST00000146640
AA Change: Y682C

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000117076
Gene: ENSMUSG00000020256
AA Change: Y682C

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000147381

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: 26 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ank1	G	A	8: 23,609,450 (GRCm39)		probably null	Het
Arhgap1	A	G	2: 91,501,121 (GRCm39)	N399S	probably damaging	Het
Atp8a2	A	T	14: 60,254,248 (GRCm39)	I511N	possibly damaging	Het
Birc6	T	A	17: 74,906,935 (GRCm39)	C1428S	probably benign	Het
Col18a1	T	C	10: 76,948,943 (GRCm39)	T190A	possibly damaging	Het
Cpd	A	T	11: 76,731,251 (GRCm39)	D318E	probably benign	Het
Dync2h1	A	T	9: 7,125,912 (GRCm39)	V1898E	probably damaging	Het
Gon4l	T	C	3: 88,802,671 (GRCm39)	M1095T	probably damaging	Het
Gypa	G	A	8: 81,220,721 (GRCm39)		probably benign	Het
Irf9	G	A	14: 55,845,196 (GRCm39)	R352H	probably damaging	Het
Macf1	T	C	4: 123,365,168 (GRCm39)	T1633A	probably benign	Het
Mars2	T	C	1: 55,277,933 (GRCm39)	V512A	probably damaging	Het
Myo9a	A	G	9: 59,778,956 (GRCm39)	N1571D	probably benign	Het
Myrfl	T	C	10: 116,613,265 (GRCm39)	D846G	probably benign	Het
Or2ak6	A	T	11: 58,593,102 (GRCm39)	T192S	probably damaging	Het
Or2y1b	A	G	11: 49,209,162 (GRCm39)	D263G	probably benign	Het
Or4d11	A	G	19: 12,013,219 (GRCm39)	S296P	possibly damaging	Het
Or7a41	T	C	10: 78,871,379 (GRCm39)	S250P	probably damaging	Het
Rprd2	A	T	3: 95,672,815 (GRCm39)	S863T	probably damaging	Het
Sdf4	T	A	4: 156,093,293 (GRCm39)	N208K	probably benign	Het
Sftpd	A	T	14: 40,894,423 (GRCm39)	V332D	probably benign	Het
Sh2b3	T	C	5: 121,956,718 (GRCm39)	D321G	probably benign	Het
Slc45a2	T	A	15: 11,001,268 (GRCm39)	N122K	probably damaging	Het
Slk	T	A	19: 47,630,432 (GRCm39)	F1170Y	probably damaging	Het
Spata7	A	C	12: 98,624,517 (GRCm39)	T140P	probably damaging	Het
Vmn2r117	A	G	17: 23,694,356 (GRCm39)	L497S	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
IGL01354:Aldh1l2	APN	10	83,363,240 (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
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

2015-04-16