Incidental Mutation 'IGL02657:Aldh1l1'
ID 302375
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Aldh1l1
Ensembl Gene ENSMUSG00000030088
Gene Name aldehyde dehydrogenase 1 family, member L1
Synonyms Fthfd, 1810048F20Rik
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # IGL02657
Quality Score
Status
Chromosome 6
Chromosomal Location 90527751-90576153 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 90567776 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Proline at position 680 (L680P)
Ref Sequence ENSEMBL: ENSMUSP00000114304 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000032175] [ENSMUST00000130418] [ENSMUST00000204796]
AlphaFold Q8R0Y6
Predicted Effect probably damaging
Transcript: ENSMUST00000032175
AA Change: L680P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000032175
Gene: ENSMUSG00000030088
AA Change: L680P

DomainStartEndE-ValueType
Pfam:Formyl_trans_N 1 180 6.9e-53 PFAM
Pfam:Formyl_trans_C 204 310 4e-18 PFAM
Pfam:PP-binding 325 391 3.7e-6 PFAM
Pfam:Aldedh 430 898 1.3e-175 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000130418
AA Change: L680P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000114304
Gene: ENSMUSG00000030088
AA Change: L680P

DomainStartEndE-ValueType
Pfam:Formyl_trans_N 1 180 7.4e-54 PFAM
Pfam:Formyl_trans_C 204 310 2.6e-18 PFAM
Pfam:Aldedh 430 898 1.7e-175 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000137669
Predicted Effect probably benign
Transcript: ENSMUST00000204796
SMART Domains Protein: ENSMUSP00000145380
Gene: ENSMUSG00000030088

DomainStartEndE-ValueType
Pfam:Formyl_trans_N 1 180 3e-53 PFAM
Pfam:Formyl_trans_C 204 310 1.5e-17 PFAM
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene catalyzes the conversion of 10-formyltetrahydrofolate, nicotinamide adenine dinucleotide phosphate (NADP+), and water to tetrahydrofolate, NADPH, and carbon dioxide. The encoded protein belongs to the aldehyde dehydrogenase family. Loss of function or expression of this gene is associated with decreased apoptosis, increased cell motility, and cancer progression. There is an antisense transcript that overlaps on the opposite strand with this gene locus. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jun 2012]
Allele List at MGI
Other mutations in this stock
Total: 54 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Afmid G A 11: 117,725,648 (GRCm39) V120M possibly damaging Het
Alox12 A T 11: 70,138,104 (GRCm39) D410E probably benign Het
Amt T A 9: 108,178,579 (GRCm39) V365E probably damaging Het
Ano9 A G 7: 140,687,353 (GRCm39) S321P probably damaging Het
Atp2c2 A T 8: 120,479,771 (GRCm39) I767F probably damaging Het
Bag1 A T 4: 40,936,643 (GRCm39) Y338N probably benign Het
Bcr T A 10: 74,990,796 (GRCm39) D767E probably benign Het
Chfr A T 5: 110,302,705 (GRCm39) Q350L probably damaging Het
Cops3 A T 11: 59,721,043 (GRCm39) L124H probably damaging Het
Ddx60 T C 8: 62,437,149 (GRCm39) Y988H probably benign Het
Dnajc2 A T 5: 21,975,479 (GRCm39) probably benign Het
Dym C T 18: 75,215,527 (GRCm39) Q238* probably null Het
Fbn1 A T 2: 125,193,945 (GRCm39) C1341S possibly damaging Het
Fryl G T 5: 73,212,203 (GRCm39) N2308K probably benign Het
Gbp2b G T 3: 142,309,873 (GRCm39) R221L probably damaging Het
Gpat2 A G 2: 127,269,251 (GRCm39) N8S probably benign Het
Gvin2 T C 7: 105,545,972 (GRCm39) K2360R probably damaging Het
Hycc2 A T 1: 58,574,561 (GRCm39) W327R probably damaging Het
Ift52 A G 2: 162,887,135 (GRCm39) D379G probably damaging Het
Inhbe C A 10: 127,186,645 (GRCm39) L178F probably damaging Het
Ipo5 T C 14: 121,181,212 (GRCm39) Y913H possibly damaging Het
Kif21b T A 1: 136,099,968 (GRCm39) D1507E possibly damaging Het
Lnx2 A G 5: 146,964,984 (GRCm39) V413A probably damaging Het
Lrrc40 C A 3: 157,742,410 (GRCm39) F16L probably damaging Het
Magi2 A G 5: 19,432,581 (GRCm39) K99E probably damaging Het
Me3 A G 7: 89,495,461 (GRCm39) I357M probably benign Het
Med30 A G 15: 52,582,761 (GRCm39) Y66C probably benign Het
Mief2 A T 11: 60,621,783 (GRCm39) S118C probably damaging Het
Mylip A G 13: 45,544,722 (GRCm39) S49G probably benign Het
Ncoa7 T A 10: 30,528,972 (GRCm39) D107V probably damaging Het
Nvl C A 1: 180,934,541 (GRCm39) V655F probably damaging Het
Olfml2b C T 1: 170,508,645 (GRCm39) T501I probably benign Het
Ormdl2 T C 10: 128,656,186 (GRCm39) I40V probably benign Het
Pde6b G T 5: 108,568,142 (GRCm39) probably benign Het
Ralgapa1 A C 12: 55,720,292 (GRCm39) L1785W probably damaging Het
Rnf112 A T 11: 61,341,078 (GRCm39) probably null Het
Sema3c A T 5: 17,781,866 (GRCm39) M1L possibly damaging Het
Sema3c T A 5: 17,867,972 (GRCm39) Y128N probably damaging Het
Sema4b G A 7: 79,866,789 (GRCm39) G255D probably damaging Het
Setd1a C T 7: 127,394,997 (GRCm39) probably benign Het
Sirpb1a A C 3: 15,482,111 (GRCm39) S72R possibly damaging Het
Slu7 T A 11: 43,332,849 (GRCm39) probably null Het
Spata19 T C 9: 27,309,276 (GRCm39) V59A probably benign Het
Srrm1 G A 4: 135,052,415 (GRCm39) P658L unknown Het
Suclg1 T A 6: 73,237,504 (GRCm39) V83E probably damaging Het
Syncrip G T 9: 88,338,457 (GRCm39) R536S probably benign Het
Tap2 T C 17: 34,424,432 (GRCm39) V55A probably damaging Het
Tekt4 T C 17: 25,692,732 (GRCm39) I186T possibly damaging Het
Trpc6 C A 9: 8,643,602 (GRCm39) D462E possibly damaging Het
Ubqln3 T G 7: 103,791,170 (GRCm39) T307P probably damaging Het
Vmn1r64 A T 7: 5,886,727 (GRCm39) I272K probably benign Het
Xpr1 T C 1: 155,166,026 (GRCm39) T574A probably benign Het
Zfc3h1 A G 10: 115,247,859 (GRCm39) T1021A possibly damaging Het
Zfp512 A T 5: 31,628,501 (GRCm39) H159L probably damaging Het
Other mutations in Aldh1l1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01316:Aldh1l1 APN 6 90,575,362 (GRCm39) missense probably damaging 1.00
IGL01350:Aldh1l1 APN 6 90,536,338 (GRCm39) missense probably damaging 1.00
IGL01601:Aldh1l1 APN 6 90,568,823 (GRCm39) missense probably damaging 1.00
IGL01686:Aldh1l1 APN 6 90,536,215 (GRCm39) splice site probably benign
IGL01868:Aldh1l1 APN 6 90,560,212 (GRCm39) nonsense probably null
IGL01941:Aldh1l1 APN 6 90,539,677 (GRCm39) missense probably damaging 0.98
IGL01982:Aldh1l1 APN 6 90,536,845 (GRCm39) missense probably benign 0.00
IGL02088:Aldh1l1 APN 6 90,557,572 (GRCm39) splice site probably benign
IGL02159:Aldh1l1 APN 6 90,571,638 (GRCm39) splice site probably benign
IGL02450:Aldh1l1 APN 6 90,546,855 (GRCm39) missense probably benign 0.00
IGL02839:Aldh1l1 APN 6 90,546,857 (GRCm39) missense possibly damaging 0.95
R0149:Aldh1l1 UTSW 6 90,566,396 (GRCm39) missense possibly damaging 0.85
R0206:Aldh1l1 UTSW 6 90,546,848 (GRCm39) missense possibly damaging 0.88
R0206:Aldh1l1 UTSW 6 90,546,848 (GRCm39) missense possibly damaging 0.88
R0418:Aldh1l1 UTSW 6 90,546,875 (GRCm39) missense possibly damaging 0.49
R1121:Aldh1l1 UTSW 6 90,566,366 (GRCm39) missense probably benign
R1467:Aldh1l1 UTSW 6 90,548,910 (GRCm39) missense possibly damaging 0.90
R1467:Aldh1l1 UTSW 6 90,548,910 (GRCm39) missense possibly damaging 0.90
R1649:Aldh1l1 UTSW 6 90,541,371 (GRCm39) missense probably benign
R1793:Aldh1l1 UTSW 6 90,554,813 (GRCm39) missense possibly damaging 0.92
R2043:Aldh1l1 UTSW 6 90,534,314 (GRCm39) missense probably benign 0.05
R2044:Aldh1l1 UTSW 6 90,539,647 (GRCm39) missense probably benign 0.00
R2229:Aldh1l1 UTSW 6 90,560,168 (GRCm39) missense probably damaging 1.00
R2426:Aldh1l1 UTSW 6 90,575,266 (GRCm39) missense probably damaging 0.99
R4109:Aldh1l1 UTSW 6 90,539,626 (GRCm39) missense probably benign 0.04
R4818:Aldh1l1 UTSW 6 90,573,897 (GRCm39) missense probably benign
R5214:Aldh1l1 UTSW 6 90,540,399 (GRCm39) missense probably damaging 1.00
R5285:Aldh1l1 UTSW 6 90,553,752 (GRCm39) nonsense probably null
R5426:Aldh1l1 UTSW 6 90,536,281 (GRCm39) missense probably benign
R5516:Aldh1l1 UTSW 6 90,573,927 (GRCm39) missense possibly damaging 0.95
R5970:Aldh1l1 UTSW 6 90,574,028 (GRCm39) intron probably benign
R6235:Aldh1l1 UTSW 6 90,541,439 (GRCm39) missense probably benign 0.44
R6322:Aldh1l1 UTSW 6 90,539,680 (GRCm39) missense probably benign 0.03
R7053:Aldh1l1 UTSW 6 90,540,420 (GRCm39) missense possibly damaging 0.50
R7125:Aldh1l1 UTSW 6 90,553,761 (GRCm39) critical splice donor site probably null
R7128:Aldh1l1 UTSW 6 90,540,361 (GRCm39) missense probably benign 0.23
R7142:Aldh1l1 UTSW 6 90,540,398 (GRCm39) missense probably damaging 1.00
R7203:Aldh1l1 UTSW 6 90,547,782 (GRCm39) missense probably benign 0.01
R7205:Aldh1l1 UTSW 6 90,575,257 (GRCm39) missense probably damaging 0.97
R7477:Aldh1l1 UTSW 6 90,575,369 (GRCm39) critical splice donor site probably null
R7669:Aldh1l1 UTSW 6 90,547,844 (GRCm39) missense probably benign
R7718:Aldh1l1 UTSW 6 90,575,305 (GRCm39) missense probably damaging 1.00
R7788:Aldh1l1 UTSW 6 90,546,894 (GRCm39) missense probably benign 0.20
R8438:Aldh1l1 UTSW 6 90,536,428 (GRCm39) missense probably damaging 1.00
R8922:Aldh1l1 UTSW 6 90,536,256 (GRCm39) missense probably damaging 1.00
R8969:Aldh1l1 UTSW 6 90,547,790 (GRCm39) missense probably benign
R9292:Aldh1l1 UTSW 6 90,568,867 (GRCm39) missense probably damaging 0.98
R9427:Aldh1l1 UTSW 6 90,536,903 (GRCm39) missense probably benign 0.06
R9560:Aldh1l1 UTSW 6 90,536,825 (GRCm39) missense probably damaging 1.00
R9771:Aldh1l1 UTSW 6 90,575,310 (GRCm39) missense probably benign 0.25
R9784:Aldh1l1 UTSW 6 90,541,424 (GRCm39) missense probably benign 0.07
RF007:Aldh1l1 UTSW 6 90,575,241 (GRCm39) missense probably damaging 0.99
Z1176:Aldh1l1 UTSW 6 90,560,155 (GRCm39) missense probably benign 0.11
Z1176:Aldh1l1 UTSW 6 90,534,266 (GRCm39) frame shift probably null
Z1177:Aldh1l1 UTSW 6 90,541,431 (GRCm39) missense probably benign 0.00
Posted On 2015-04-16