Incidental Mutation 'R1117:Aldh1l2'
ID 97432
Institutional Source Beutler Lab
Gene Symbol Aldh1l2
Ensembl Gene ENSMUSG00000020256
Gene Name aldehyde dehydrogenase 1 family, member L2
Synonyms
MMRRC Submission 039190-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R1117 (G1)
Quality Score 225
Status Not validated
Chromosome 10
Chromosomal Location 83487450-83534140 bp(-) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) G to A at 83508623 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Threonine to Isoleucine at position 353 (T353I)
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: T466I

PolyPhen 2 Score 0.012 (Sensitivity: 0.96; Specificity: 0.78)
SMART Domains Protein: ENSMUSP00000020497
Gene: ENSMUSG00000020256
AA Change: T466I

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: ENSMUST00000125193
Predicted Effect noncoding transcript
Transcript: ENSMUST00000138858
Predicted Effect noncoding transcript
Transcript: ENSMUST00000143793
Predicted Effect probably benign
Transcript: ENSMUST00000146640
AA Change: T353I

PolyPhen 2 Score 0.012 (Sensitivity: 0.96; Specificity: 0.78)
SMART Domains Protein: ENSMUSP00000117076
Gene: ENSMUSG00000020256
AA Change: T353I

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
Coding Region Coverage
  • 1x: 99.0%
  • 3x: 98.1%
  • 10x: 95.6%
  • 20x: 90.1%
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: 30 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Arpc1b T C 5: 145,125,754 (GRCm38) V226A possibly damaging Het
Casz1 C A 4: 148,934,595 (GRCm38) T451K probably damaging Het
Ccr4 C T 9: 114,492,017 (GRCm38) V327M probably benign Het
Cntrl A G 2: 35,127,973 (GRCm38) E465G probably damaging Het
Cpa1 A G 6: 30,645,261 (GRCm38) D412G probably benign Het
Crispld1 T A 1: 17,749,622 (GRCm38) N281K probably benign Het
Cul3 T C 1: 80,280,924 (GRCm38) Q465R probably damaging Het
Cyp2c68 G A 19: 39,712,459 (GRCm38) T305M probably damaging Het
Elp4 T C 2: 105,842,311 (GRCm38) D143G probably benign Het
Etnppl A G 3: 130,634,563 (GRCm38) I462M probably benign Het
Fmo4 A G 1: 162,803,663 (GRCm38) V245A probably benign Het
Gm4076 A G 13: 85,127,318 (GRCm38) noncoding transcript Het
Gm9573 T C 17: 35,620,028 (GRCm38) probably benign Het
Gtf3c3 C T 1: 54,417,778 (GRCm38) A488T probably damaging Het
Kcnj15 G A 16: 95,295,625 (GRCm38) M8I probably benign Het
Klk1b22 A T 7: 44,116,859 (GRCm38) M255L probably benign Het
Mmrn1 T A 6: 60,976,325 (GRCm38) I530K possibly damaging Het
Nid2 A C 14: 19,763,664 (GRCm38) probably null Het
Olfr311 A G 11: 58,841,815 (GRCm38) K234E possibly damaging Het
Olfr63 C T 17: 33,268,966 (GRCm38) R81* probably null Het
Olfr981 T C 9: 40,022,762 (GRCm38) F123S probably damaging Het
Peak1 G A 9: 56,258,418 (GRCm38) T742M probably benign Het
Sel1l3 T A 5: 53,172,607 (GRCm38) T469S probably benign Het
Sez6 A G 11: 77,974,514 (GRCm38) Y659C probably damaging Het
Slc19a2 A T 1: 164,263,456 (GRCm38) I278F possibly damaging Het
Slc36a3 T C 11: 55,146,180 (GRCm38) I100V possibly damaging Het
Tcerg1 A G 18: 42,574,652 (GRCm38) D1079G probably damaging Het
Trim43c T C 9: 88,844,977 (GRCm38) S286P probably benign Het
Umod T C 7: 119,477,306 (GRCm38) N79S possibly damaging Het
Wdr43 A G 17: 71,616,387 (GRCm38) T43A probably benign Het
Other mutations in Aldh1l2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01152:Aldh1l2 APN 10 83,522,886 (GRCm38) nonsense probably null
IGL01154:Aldh1l2 APN 10 83,520,373 (GRCm38) missense probably damaging 1.00
IGL01301:Aldh1l2 APN 10 83,522,846 (GRCm38) missense probably damaging 1.00
IGL01354:Aldh1l2 APN 10 83,527,376 (GRCm38) missense probably damaging 1.00
IGL01364:Aldh1l2 APN 10 83,492,667 (GRCm38) missense probably damaging 1.00
IGL01445:Aldh1l2 APN 10 83,520,262 (GRCm38) splice site probably benign
IGL02179:Aldh1l2 APN 10 83,522,837 (GRCm38) missense probably benign 0.10
IGL02283:Aldh1l2 APN 10 83,495,895 (GRCm38) missense probably benign 0.00
IGL02507:Aldh1l2 APN 10 83,492,584 (GRCm38) nonsense probably null
IGL02727:Aldh1l2 APN 10 83,506,605 (GRCm38) missense probably damaging 1.00
IGL03353:Aldh1l2 APN 10 83,522,913 (GRCm38) missense probably benign 0.17
Hunger_winter UTSW 10 83,508,013 (GRCm38) critical splice donor site probably null
Spartan UTSW 10 83,512,306 (GRCm38) missense possibly damaging 0.93
ANU18:Aldh1l2 UTSW 10 83,522,846 (GRCm38) missense probably damaging 1.00
IGL02984:Aldh1l2 UTSW 10 83,527,335 (GRCm38) missense probably damaging 1.00
R0267:Aldh1l2 UTSW 10 83,522,687 (GRCm38) splice site probably benign
R0302:Aldh1l2 UTSW 10 83,520,365 (GRCm38) missense probably damaging 1.00
R0349:Aldh1l2 UTSW 10 83,490,614 (GRCm38) missense probably damaging 1.00
R0468:Aldh1l2 UTSW 10 83,518,678 (GRCm38) missense probably benign 0.01
R0745:Aldh1l2 UTSW 10 83,518,630 (GRCm38) splice site probably null
R0788:Aldh1l2 UTSW 10 83,516,164 (GRCm38) missense probably damaging 1.00
R1241:Aldh1l2 UTSW 10 83,496,025 (GRCm38) missense probably benign 0.00
R1420:Aldh1l2 UTSW 10 83,495,935 (GRCm38) missense probably damaging 1.00
R1490:Aldh1l2 UTSW 10 83,520,370 (GRCm38) missense probably damaging 1.00
R1704:Aldh1l2 UTSW 10 83,508,660 (GRCm38) missense probably benign 0.10
R1729:Aldh1l2 UTSW 10 83,508,082 (GRCm38) nonsense probably null
R1893:Aldh1l2 UTSW 10 83,492,536 (GRCm38) missense probably damaging 1.00
R1897:Aldh1l2 UTSW 10 83,502,525 (GRCm38) missense probably damaging 1.00
R2047:Aldh1l2 UTSW 10 83,506,743 (GRCm38) missense probably damaging 1.00
R2290:Aldh1l2 UTSW 10 83,527,313 (GRCm38) missense probably damaging 1.00
R3054:Aldh1l2 UTSW 10 83,502,472 (GRCm38) missense probably benign 0.14
R3055:Aldh1l2 UTSW 10 83,502,472 (GRCm38) missense probably benign 0.14
R4097:Aldh1l2 UTSW 10 83,512,364 (GRCm38) missense probably damaging 0.98
R4162:Aldh1l2 UTSW 10 83,506,654 (GRCm38) missense possibly damaging 0.50
R4295:Aldh1l2 UTSW 10 83,495,920 (GRCm38) missense possibly damaging 0.62
R4296:Aldh1l2 UTSW 10 83,522,777 (GRCm38) missense probably benign 0.34
R4388:Aldh1l2 UTSW 10 83,513,622 (GRCm38) missense probably damaging 1.00
R4809:Aldh1l2 UTSW 10 83,506,632 (GRCm38) missense probably damaging 1.00
R5052:Aldh1l2 UTSW 10 83,508,692 (GRCm38) missense possibly damaging 0.92
R5421:Aldh1l2 UTSW 10 83,527,407 (GRCm38) missense probably damaging 1.00
R5491:Aldh1l2 UTSW 10 83,522,785 (GRCm38) missense probably benign 0.00
R5688:Aldh1l2 UTSW 10 83,501,925 (GRCm38) missense possibly damaging 0.93
R5726:Aldh1l2 UTSW 10 83,512,306 (GRCm38) missense possibly damaging 0.93
R5737:Aldh1l2 UTSW 10 83,520,325 (GRCm38) missense probably damaging 1.00
R5752:Aldh1l2 UTSW 10 83,520,380 (GRCm38) missense probably damaging 1.00
R6113:Aldh1l2 UTSW 10 83,508,134 (GRCm38) nonsense probably null
R6161:Aldh1l2 UTSW 10 83,520,338 (GRCm38) missense probably benign 0.00
R6166:Aldh1l2 UTSW 10 83,493,424 (GRCm38) splice site probably null
R6189:Aldh1l2 UTSW 10 83,508,013 (GRCm38) critical splice donor site probably null
R7357:Aldh1l2 UTSW 10 83,514,544 (GRCm38) missense possibly damaging 0.89
R7394:Aldh1l2 UTSW 10 83,502,457 (GRCm38) missense probably damaging 1.00
R7469:Aldh1l2 UTSW 10 83,508,105 (GRCm38) missense probably damaging 1.00
R7676:Aldh1l2 UTSW 10 83,508,111 (GRCm38) missense probably benign
R7848:Aldh1l2 UTSW 10 83,499,843 (GRCm38) missense probably benign 0.12
R7958:Aldh1l2 UTSW 10 83,520,338 (GRCm38) missense probably benign 0.00
R8311:Aldh1l2 UTSW 10 83,490,615 (GRCm38) missense probably damaging 1.00
R8477:Aldh1l2 UTSW 10 83,501,921 (GRCm38) missense probably damaging 1.00
R8730:Aldh1l2 UTSW 10 83,506,642 (GRCm38) missense possibly damaging 0.94
R8884:Aldh1l2 UTSW 10 83,508,677 (GRCm38) missense probably benign 0.02
R9117:Aldh1l2 UTSW 10 83,506,681 (GRCm38) missense probably benign 0.41
R9239:Aldh1l2 UTSW 10 83,506,632 (GRCm38) missense probably damaging 1.00
R9335:Aldh1l2 UTSW 10 83,506,646 (GRCm38) missense probably damaging 0.96
R9368:Aldh1l2 UTSW 10 83,495,952 (GRCm38) nonsense probably null
R9784:Aldh1l2 UTSW 10 83,506,750 (GRCm38) critical splice acceptor site probably null
Z1177:Aldh1l2 UTSW 10 83,534,005 (GRCm38) missense probably benign
Z1177:Aldh1l2 UTSW 10 83,493,480 (GRCm38) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- TGCCATGAGTCTGAAGTACACCCC -3'
(R):5'- GAATCCCACCAAGCTGACCTCTTTC -3'

Sequencing Primer
(F):5'- TCTGCACACAGGGATCTGC -3'
(R):5'- gctactgtgccatctctcc -3'
Posted On 2014-01-05