Incidental Mutation 'IGL02507:Aldh1l2'
ID 296371
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 # IGL02507
Quality Score
Status
Chromosome 10
Chromosomal Location 83323314-83370004 bp(-) (GRCm39)
Type of Mutation nonsense
DNA Base Change (assembly) A to C at 83328448 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Stop codon at position 756 (Y756*)
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 null
Transcript: ENSMUST00000020497
AA Change: Y869*
SMART Domains Protein: ENSMUSP00000020497
Gene: ENSMUSG00000020256
AA Change: Y869*

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 null
Transcript: ENSMUST00000146640
AA Change: Y756*
SMART Domains Protein: ENSMUSP00000117076
Gene: ENSMUSG00000020256
AA Change: Y756*

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: 49 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca13 A G 11: 9,349,388 (GRCm39) Y3654C probably damaging Het
Arhgef12 T C 9: 42,903,859 (GRCm39) E733G probably damaging Het
Art5 A T 7: 101,748,699 (GRCm39) M1K probably null Het
Atp1a2 A T 1: 172,113,338 (GRCm39) D448E probably damaging Het
Atp6v1b1 C T 6: 83,733,837 (GRCm39) T356I possibly damaging Het
Celsr1 A G 15: 85,784,889 (GRCm39) probably benign Het
Cep89 A G 7: 35,134,990 (GRCm39) Y686C probably damaging Het
Cgrrf1 T A 14: 47,090,901 (GRCm39) Y212* probably null Het
Chrnb1 T C 11: 69,675,916 (GRCm39) Y442C probably damaging Het
Clcn1 T C 6: 42,284,007 (GRCm39) probably benign Het
Clcn7 G A 17: 25,363,443 (GRCm39) V40M probably damaging Het
Cntn1 A G 15: 92,148,860 (GRCm39) Y369C possibly damaging Het
Csmd1 T C 8: 17,584,992 (GRCm39) probably benign Het
Dpy19l2 A T 9: 24,542,563 (GRCm39) C446S probably benign Het
Edem3 G A 1: 151,687,407 (GRCm39) E782K probably benign Het
Efcab15 T A 11: 103,090,275 (GRCm39) Q287L probably damaging Het
Ephb3 T A 16: 21,039,389 (GRCm39) probably benign Het
Fndc4 T C 5: 31,452,090 (GRCm39) D109G probably damaging Het
Fras1 T C 5: 96,805,267 (GRCm39) V1303A possibly damaging Het
Gcn1 T C 5: 115,723,940 (GRCm39) L532P probably benign Het
Gm5150 A G 3: 16,017,485 (GRCm39) L262P probably damaging Het
Hbb-bs T C 7: 103,477,091 (GRCm39) probably benign Het
Krt74 A G 15: 101,669,059 (GRCm39) noncoding transcript Het
Myo1a T C 10: 127,548,478 (GRCm39) V375A probably damaging Het
Nup160 A T 2: 90,560,079 (GRCm39) Q1268L probably benign Het
Or4k42 G A 2: 111,319,768 (GRCm39) T245M possibly damaging Het
Or51ag1 G T 7: 103,155,925 (GRCm39) S76* probably null Het
Or5d16 G A 2: 87,773,262 (GRCm39) R237* probably null Het
Or9s27 T C 1: 92,516,648 (GRCm39) S199P possibly damaging Het
Pan3 T C 5: 147,463,406 (GRCm39) S497P probably damaging Het
Pex5 T C 6: 124,390,264 (GRCm39) T138A probably benign Het
Pik3ap1 A G 19: 41,270,451 (GRCm39) probably benign Het
Ptchd4 A T 17: 42,627,764 (GRCm39) H75L possibly damaging Het
Rag2 A T 2: 101,461,055 (GRCm39) H455L probably damaging Het
Rergl T A 6: 139,470,351 (GRCm39) E159V probably damaging Het
Rrn3 A G 16: 13,606,721 (GRCm39) N109S probably benign Het
Scn1a A T 2: 66,108,157 (GRCm39) V1523D probably damaging Het
Sec23a A G 12: 59,053,884 (GRCm39) V38A probably benign Het
Slc15a2 G A 16: 36,602,021 (GRCm39) T92M possibly damaging Het
Slc2a2 A G 3: 28,781,260 (GRCm39) T433A probably benign Het
Sptan1 A G 2: 29,906,067 (GRCm39) D1671G probably damaging Het
Stab1 A G 14: 30,861,167 (GRCm39) probably benign Het
Stau2 A T 1: 16,556,293 (GRCm39) I22N possibly damaging Het
Strn3 A T 12: 51,708,410 (GRCm39) Y123* probably null Het
Tmem205 A G 9: 21,837,607 (GRCm39) V13A possibly damaging Het
Trub1 G A 19: 57,472,009 (GRCm39) probably benign Het
Ttn A G 2: 76,568,699 (GRCm39) V27398A possibly damaging Het
Vill A G 9: 118,899,845 (GRCm39) E343G possibly damaging Het
Zgpat T C 2: 181,008,029 (GRCm39) F189L probably damaging 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
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
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