Incidental Mutation 'IGL01868:Aldh1l1'
ID178620
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Aldh1l1
Ensembl Gene ENSMUSG00000030088
Gene Namealdehyde dehydrogenase 1 family, member L1
SynonymsFthfd, 1810048F20Rik
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.196) question?
Stock #IGL01868
Quality Score
Status
Chromosome6
Chromosomal Location90486427-90600203 bp(+) (GRCm38)
Type of Mutationnonsense
DNA Base Change (assembly) A to T at 90583230 bp
ZygosityHeterozygous
Amino Acid Change Lysine to Stop codon at position 620 (K620*)
Ref Sequence ENSEMBL: ENSMUSP00000114304 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000032175] [ENSMUST00000130418] [ENSMUST00000204796]
Predicted Effect probably null
Transcript: ENSMUST00000032175
AA Change: K620*
SMART Domains Protein: ENSMUSP00000032175
Gene: ENSMUSG00000030088
AA Change: K620*

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 null
Transcript: ENSMUST00000130418
AA Change: K620*
SMART Domains Protein: ENSMUSP00000114304
Gene: ENSMUSG00000030088
AA Change: K620*

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 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: 56 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Afg3l2 G A 18: 67,414,148 T569M possibly damaging Het
Amdhd2 G T 17: 24,157,530 T346K probably damaging Het
Arhgap44 T C 11: 65,012,078 D521G probably damaging Het
Ccdc146 C A 5: 21,333,054 A91S probably damaging Het
Ccdc187 C A 2: 26,280,948 R506L probably benign Het
Cd37 T C 7: 45,236,179 Q128R probably benign Het
Cdh22 T A 2: 165,157,358 M185L probably damaging Het
Cib2 A T 9: 54,548,475 N68K probably damaging Het
Ddx46 C T 13: 55,639,870 R96* probably null Het
Dnajc13 A T 9: 104,162,745 H2050Q possibly damaging Het
Duox1 A G 2: 122,338,407 H1172R probably benign Het
Eftud2 C T 11: 102,869,127 V132I probably benign Het
Fcrl5 G A 3: 87,443,707 D87N possibly damaging Het
Gm10718 A T 9: 3,025,118 Y194F probably benign Het
Gm14548 G A 7: 3,897,175 Q143* probably null Het
Gm5862 A C 5: 26,022,771 W41G probably benign Het
Kat6a T C 8: 22,926,455 F660L probably damaging Het
Lipo2 T C 19: 33,730,838 M259V probably benign Het
Lrrcc1 T A 3: 14,554,357 L90* probably null Het
Lsm1 G A 8: 25,793,793 probably null Het
Luzp1 T C 4: 136,542,737 I757T probably damaging Het
Micall1 A G 15: 79,115,060 I76V probably benign Het
Mmp21 A T 7: 133,675,914 D394E probably damaging Het
Mtfr1l T C 4: 134,530,707 D68G probably null Het
Necab2 A G 8: 119,462,576 S162G probably benign Het
Olfr1186 T C 2: 88,525,715 V44A possibly damaging Het
Olfr429 C T 1: 174,089,370 T110I possibly damaging Het
Olfr64 G A 7: 103,893,376 R120* probably null Het
Olfr96 A T 17: 37,225,152 Q9L probably benign Het
Pde7b A T 10: 20,407,165 C376* probably null Het
Plcb2 A G 2: 118,709,590 L1074P probably damaging Het
Plcb2 G T 2: 118,711,387 T914N probably benign Het
Prph C A 15: 99,056,343 D207E probably damaging Het
Prrxl1 C A 14: 32,608,377 F150L probably damaging Het
Rbp4 C A 19: 38,124,520 R37L probably damaging Het
Ryr3 T C 2: 112,803,158 probably benign Het
Sardh T G 2: 27,227,147 Q496P probably benign Het
Serpina1f T A 12: 103,693,445 N193Y probably benign Het
Slc10a7 G A 8: 78,697,336 probably null Het
Spg7 T C 8: 123,090,236 probably null Het
Sphkap T C 1: 83,280,399 probably null Het
Tas2r121 T A 6: 132,700,272 I246L probably benign Het
Tbc1d9b T C 11: 50,161,633 F889S probably damaging Het
Tcp10a T C 17: 7,329,864 M140T possibly damaging Het
Tctn2 G A 5: 124,616,528 noncoding transcript Het
Tfap2b G T 1: 19,214,282 R138L probably damaging Het
Tnrc18 T C 5: 142,771,812 T985A unknown Het
Treml1 G A 17: 48,366,007 V211I probably benign Het
Ubr4 C T 4: 139,412,678 Q1191* probably null Het
Vim G A 2: 13,578,438 R217H possibly damaging Het
Vmn2r77 A G 7: 86,803,016 D468G probably benign Het
Vmn2r98 G T 17: 19,066,286 V349F probably benign Het
Vmn2r-ps159 C T 4: 156,338,254 noncoding transcript Het
Vwa7 A T 17: 35,021,259 E401V probably null Het
Zfp119b C A 17: 55,939,866 V75L possibly damaging Het
Zfp287 C T 11: 62,715,257 E275K probably benign Het
Other mutations in Aldh1l1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01316:Aldh1l1 APN 6 90598380 missense probably damaging 1.00
IGL01350:Aldh1l1 APN 6 90559356 missense probably damaging 1.00
IGL01601:Aldh1l1 APN 6 90591841 missense probably damaging 1.00
IGL01686:Aldh1l1 APN 6 90559233 splice site probably benign
IGL01941:Aldh1l1 APN 6 90562695 missense probably damaging 0.98
IGL01982:Aldh1l1 APN 6 90559863 missense probably benign 0.00
IGL02088:Aldh1l1 APN 6 90580590 splice site probably benign
IGL02159:Aldh1l1 APN 6 90594656 splice site probably benign
IGL02450:Aldh1l1 APN 6 90569873 missense probably benign 0.00
IGL02657:Aldh1l1 APN 6 90590794 missense probably damaging 1.00
IGL02839:Aldh1l1 APN 6 90569875 missense possibly damaging 0.95
R0149:Aldh1l1 UTSW 6 90589414 missense possibly damaging 0.85
R0206:Aldh1l1 UTSW 6 90569866 missense possibly damaging 0.88
R0206:Aldh1l1 UTSW 6 90569866 missense possibly damaging 0.88
R0418:Aldh1l1 UTSW 6 90569893 missense possibly damaging 0.49
R1121:Aldh1l1 UTSW 6 90589384 missense probably benign
R1467:Aldh1l1 UTSW 6 90571928 missense possibly damaging 0.90
R1467:Aldh1l1 UTSW 6 90571928 missense possibly damaging 0.90
R1649:Aldh1l1 UTSW 6 90564389 missense probably benign
R1793:Aldh1l1 UTSW 6 90577831 missense possibly damaging 0.92
R2043:Aldh1l1 UTSW 6 90557332 missense probably benign 0.05
R2044:Aldh1l1 UTSW 6 90562665 missense probably benign 0.00
R2229:Aldh1l1 UTSW 6 90583186 missense probably damaging 1.00
R2426:Aldh1l1 UTSW 6 90598284 missense probably damaging 0.99
R4109:Aldh1l1 UTSW 6 90562644 missense probably benign 0.04
R4818:Aldh1l1 UTSW 6 90596915 missense probably benign
R5214:Aldh1l1 UTSW 6 90563417 missense probably damaging 1.00
R5285:Aldh1l1 UTSW 6 90576770 nonsense probably null
R5426:Aldh1l1 UTSW 6 90559299 missense probably benign
R5516:Aldh1l1 UTSW 6 90596945 missense possibly damaging 0.95
R5970:Aldh1l1 UTSW 6 90597046 intron probably benign
R6235:Aldh1l1 UTSW 6 90564457 missense probably benign 0.44
R6322:Aldh1l1 UTSW 6 90562698 missense probably benign 0.03
R7053:Aldh1l1 UTSW 6 90563438 missense possibly damaging 0.50
R7125:Aldh1l1 UTSW 6 90576779 critical splice donor site unknown
R7128:Aldh1l1 UTSW 6 90563379 missense not run
R7142:Aldh1l1 UTSW 6 90563416 missense not run
Posted On2014-05-07