Incidental Mutation 'IGL01364:Aldh1l2'
ID 75856
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 # IGL01364
Quality Score
Status
Chromosome 10
Chromosomal Location 83323314-83370004 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to A at 83328531 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Tyrosine at position 729 (D729Y)
Ref Sequence ENSEMBL: ENSMUSP00000117076 (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

DomainStartEndE-ValueType
Pfam:DUF4598 68 175 1.9e-19 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000020497
AA Change: D842Y

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000020497
Gene: ENSMUSG00000020256
AA Change: D842Y

DomainStartEndE-ValueType
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 probably damaging
Transcript: ENSMUST00000146640
AA Change: D729Y

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000117076
Gene: ENSMUSG00000020256
AA Change: D729Y

DomainStartEndE-ValueType
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: 46 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aco1 C A 4: 40,181,380 (GRCm39) probably null Het
Acot6 T C 12: 84,147,840 (GRCm39) V32A possibly damaging Het
Aff3 A T 1: 38,574,762 (GRCm39) L73I probably damaging Het
Alox15 T C 11: 70,235,992 (GRCm39) Q525R possibly damaging Het
Atr T C 9: 95,747,677 (GRCm39) Y320H probably benign Het
Atxn3 C T 12: 101,900,682 (GRCm39) probably benign Het
Caprin2 C A 6: 148,774,526 (GRCm39) S262I probably benign Het
Ccar1 T C 10: 62,612,653 (GRCm39) probably null Het
Ccdc14 T A 16: 34,543,583 (GRCm39) L647H probably damaging Het
Cd300lf T C 11: 115,017,176 (GRCm39) D49G probably benign Het
Csmd2 A G 4: 128,308,081 (GRCm39) T1280A probably benign Het
Ddb1 T C 19: 10,605,024 (GRCm39) probably null Het
Dnah9 A G 11: 66,046,285 (GRCm39) Y88H probably damaging Het
Enpp1 T C 10: 24,540,512 (GRCm39) T351A probably damaging Het
Evi2b T A 11: 79,407,449 (GRCm39) Y42F probably benign Het
Fdps A T 3: 89,001,577 (GRCm39) C274* probably null Het
Flnb A C 14: 7,934,562 (GRCm38) probably null Het
Herc1 T A 9: 66,306,643 (GRCm39) V917E probably benign Het
Hmcn2 C T 2: 31,251,826 (GRCm39) Q854* probably null Het
Hmgxb3 T C 18: 61,279,506 (GRCm39) Y769C probably damaging Het
Hps3 G T 3: 20,057,469 (GRCm39) Q772K possibly damaging Het
Ifnab T C 4: 88,608,987 (GRCm39) S160G probably damaging Het
Kalrn T C 16: 34,082,999 (GRCm39) E652G probably damaging Het
Kat6a T C 8: 23,397,716 (GRCm39) L255S probably damaging Het
Kbtbd7 T A 14: 79,665,486 (GRCm39) D439E possibly damaging Het
Kcnn4 T C 7: 24,081,128 (GRCm39) F289L probably benign Het
Mapk6 A C 9: 75,296,072 (GRCm39) D475E possibly damaging Het
Msh5 A G 17: 35,247,745 (GRCm39) V825A possibly damaging Het
Mst1 A G 9: 107,958,800 (GRCm39) I111V probably benign Het
Myo1h T A 5: 114,486,500 (GRCm39) I586N probably damaging Het
Or4k36 G T 2: 111,146,015 (GRCm39) A64S probably damaging Het
Panx1 C T 9: 14,932,761 (GRCm39) V80M probably damaging Het
Polr3b T A 10: 84,531,533 (GRCm39) I803N probably benign Het
Rasa4 T C 5: 136,124,425 (GRCm39) V158A possibly damaging Het
Rbp3 T A 14: 33,676,145 (GRCm39) M31K possibly damaging Het
Rpl3l A G 17: 24,951,404 (GRCm39) K154E probably benign Het
Sec24a A T 11: 51,604,356 (GRCm39) probably null Het
Sox5 C T 6: 144,062,198 (GRCm39) M151I probably damaging Het
Sun1 T A 5: 139,220,496 (GRCm39) L290Q probably damaging Het
Tm9sf2 T A 14: 122,380,872 (GRCm39) I155N probably damaging Het
Trmt9b A G 8: 36,979,501 (GRCm39) K368R probably benign Het
Tuft1 A G 3: 94,542,810 (GRCm39) probably benign Het
Ubash3b A G 9: 40,929,311 (GRCm39) probably null Het
Vwa1 A G 4: 155,855,200 (GRCm39) probably null Het
Wnk1 T C 6: 119,914,372 (GRCm39) E80G probably damaging Het
Xpot C A 10: 121,440,399 (GRCm39) A611S probably benign Het
Other mutations in Aldh1l2
AlleleSourceChrCoordTypePredicted EffectPPH 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
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