Incidental Mutation 'R1467:Aldh1l1'
ID 164567
Institutional Source Beutler Lab
Gene Symbol Aldh1l1
Ensembl Gene ENSMUSG00000030088
Gene Name aldehyde dehydrogenase 1 family, member L1
Synonyms Fthfd, 1810048F20Rik
MMRRC Submission 039520-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R1467 (G1)
Quality Score 225
Status Not validated
Chromosome 6
Chromosomal Location 90527751-90576153 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 90548910 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Lysine to Arginine at position 469 (K469R)
Ref Sequence ENSEMBL: ENSMUSP00000114304 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000032175] [ENSMUST00000130418] [ENSMUST00000204796]
AlphaFold Q8R0Y6
Predicted Effect possibly damaging
Transcript: ENSMUST00000032175
AA Change: K469R

PolyPhen 2 Score 0.903 (Sensitivity: 0.82; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000032175
Gene: ENSMUSG00000030088
AA Change: K469R

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 possibly damaging
Transcript: ENSMUST00000130418
AA Change: K469R

PolyPhen 2 Score 0.903 (Sensitivity: 0.82; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000114304
Gene: ENSMUSG00000030088
AA Change: K469R

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: ENSMUST00000152436
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
Meta Mutation Damage Score 0.1027 question?
Coding Region Coverage
  • 1x: 99.6%
  • 3x: 98.1%
  • 10x: 88.5%
  • 20x: 62.9%
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: 98 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2010315B03Rik C A 9: 124,058,093 (GRCm39) V9L possibly damaging Het
A630010A05Rik C A 16: 14,436,447 (GRCm39) L167I possibly damaging Het
Abca14 A T 7: 119,815,405 (GRCm39) M218L possibly damaging Het
Abca15 C A 7: 119,939,761 (GRCm39) probably null Het
Acod1 T C 14: 103,292,003 (GRCm39) F176L probably benign Het
Actr5 A G 2: 158,480,617 (GRCm39) H545R probably benign Het
Adcy1 A G 11: 7,088,396 (GRCm39) T472A probably damaging Het
Ambra1 A T 2: 91,716,048 (GRCm39) Q853L probably damaging Het
Apol7e G T 15: 77,601,966 (GRCm39) G188V probably damaging Het
AU018091 A T 7: 3,214,089 (GRCm39) W43R probably benign Het
Baat A G 4: 49,503,101 (GRCm39) V7A probably benign Het
Bcas1 C A 2: 170,229,852 (GRCm39) Q249H possibly damaging Het
Bltp1 T A 3: 37,090,094 (GRCm39) V676D probably damaging Het
Bptf G T 11: 106,945,881 (GRCm39) Q2453K possibly damaging Het
Btg3 A G 16: 78,161,688 (GRCm39) probably null Het
Cacna2d3 T C 14: 29,055,736 (GRCm39) N298S possibly damaging Het
Carf G A 1: 60,167,152 (GRCm39) V127I possibly damaging Het
Catsperg1 T C 7: 28,884,433 (GRCm39) S916G probably damaging Het
Cers1 T C 8: 70,775,819 (GRCm39) S274P possibly damaging Het
Ces4a T A 8: 105,864,667 (GRCm39) V48E possibly damaging Het
Cfap54 T A 10: 92,805,625 (GRCm39) H1495L probably benign Het
Cntnap5a T A 1: 115,612,898 (GRCm39) L11* probably null Het
Cr2 C T 1: 194,839,817 (GRCm39) G913R probably damaging Het
Cul9 A G 17: 46,836,299 (GRCm39) L1155P probably damaging Het
Dlec1 A T 9: 118,971,646 (GRCm39) D1278V probably damaging Het
Dmrt2 A G 19: 25,650,970 (GRCm39) E52G possibly damaging Het
Dsp A G 13: 38,376,688 (GRCm39) K1491R probably benign Het
Ecpas A G 4: 58,832,753 (GRCm39) V869A probably benign Het
Eef1d A T 15: 75,767,770 (GRCm39) D206E probably damaging Het
Erbb2 C T 11: 98,327,001 (GRCm39) Q1137* probably null Het
Ercc2 T A 7: 19,119,811 (GRCm39) D157E probably benign Het
Eri1 A G 8: 35,936,284 (GRCm39) *346Q probably null Het
Espl1 A G 15: 102,228,293 (GRCm39) E1689G probably benign Het
Fap C T 2: 62,347,964 (GRCm39) V539I probably benign Het
Fasn A G 11: 120,701,866 (GRCm39) F1871S probably benign Het
Gabpb1 T G 2: 126,494,247 (GRCm39) Y126S probably damaging Het
Grm1 T C 10: 10,595,702 (GRCm39) Y642C probably damaging Het
Heatr4 T C 12: 84,024,841 (GRCm39) T327A possibly damaging Het
Hmbox1 T C 14: 65,099,027 (GRCm39) D212G possibly damaging Het
Hmcn1 T A 1: 150,565,341 (GRCm39) D2262V probably damaging Het
Hoxb9 A G 11: 96,162,764 (GRCm39) T133A probably benign Het
Insr A T 8: 3,219,720 (GRCm39) V934E probably damaging Het
Ipo9 T C 1: 135,334,281 (GRCm39) E315G possibly damaging Het
Itga10 C T 3: 96,559,545 (GRCm39) Q481* probably null Het
Kntc1 T A 5: 123,925,047 (GRCm39) M1120K probably benign Het
Krt78 A G 15: 101,854,728 (GRCm39) Y1028H possibly damaging Het
Lrrc38 A T 4: 143,096,450 (GRCm39) I254F probably damaging Het
Lyrm7 A G 11: 54,741,215 (GRCm39) F40L probably damaging Het
Mfsd4b1 C T 10: 39,878,631 (GRCm39) S422N possibly damaging Het
Mlh3 A T 12: 85,284,374 (GRCm39) L1380* probably null Het
Mrpl24 C A 3: 87,829,744 (GRCm39) A110D probably benign Het
Mrps14 T C 1: 160,024,520 (GRCm39) V17A probably benign Het
Mtcl1 T C 17: 66,755,322 (GRCm39) D340G probably damaging Het
Neb T C 2: 52,120,059 (GRCm39) Y3900C probably damaging Het
Neurod4 T C 10: 130,106,473 (GRCm39) D267G probably benign Het
Nf1 A T 11: 79,319,452 (GRCm39) I536F possibly damaging Het
Nkg7 C T 7: 43,086,857 (GRCm39) P44S probably damaging Het
Or14c40 T C 7: 86,313,185 (GRCm39) V105A possibly damaging Het
Or4a67 T C 2: 88,597,832 (GRCm39) I276V probably benign Het
Pcif1 T C 2: 164,731,058 (GRCm39) Y404H probably benign Het
Pcnx2 A T 8: 126,480,289 (GRCm39) L2006Q possibly damaging Het
Pcnx3 A T 19: 5,724,922 (GRCm39) S821T possibly damaging Het
Pde8b T A 13: 95,170,680 (GRCm39) D662V probably damaging Het
Pkd1l3 C T 8: 110,343,000 (GRCm39) P113S unknown Het
Pkd2l1 G T 19: 44,142,648 (GRCm39) Q465K possibly damaging Het
Plch2 G T 4: 155,068,189 (GRCm39) P1479Q probably benign Het
Plekhm3 A T 1: 64,932,041 (GRCm39) I521N probably damaging Het
Pola2 A T 19: 5,992,093 (GRCm39) Y526* probably null Het
Prss23 T C 7: 89,159,217 (GRCm39) D284G probably damaging Het
Psme2b A G 11: 48,836,467 (GRCm39) F160S probably damaging Het
Rap1gap2 A G 11: 74,327,853 (GRCm39) V139A possibly damaging Het
Rbbp9 G T 2: 144,385,777 (GRCm39) R163S possibly damaging Het
Rdh12 T C 12: 79,260,522 (GRCm39) L206P probably damaging Het
Rhou T C 8: 124,388,029 (GRCm39) W254R possibly damaging Het
Scfd1 A G 12: 51,478,281 (GRCm39) K498E possibly damaging Het
Scn7a A G 2: 66,519,902 (GRCm39) Y1001H probably benign Het
Setx T A 2: 29,048,917 (GRCm39) V1981E probably damaging Het
Sfxn1 T C 13: 54,247,890 (GRCm39) I205T possibly damaging Het
Shld2 G T 14: 33,990,619 (GRCm39) H96N possibly damaging Het
Speer1g C T 5: 11,180,337 (GRCm39) H82Y probably damaging Het
Spock1 G A 13: 57,577,182 (GRCm39) R416C possibly damaging Het
Spred2 A G 11: 19,968,109 (GRCm39) I222V probably benign Het
Stkld1 A T 2: 26,839,407 (GRCm39) T358S probably benign Het
Strip1 T C 3: 107,534,724 (GRCm39) E102G possibly damaging Het
Tars3 T C 7: 65,305,444 (GRCm39) S223P probably damaging Het
Tdpoz1 T A 3: 93,578,637 (GRCm39) E49V probably benign Het
Tert A G 13: 73,776,328 (GRCm39) T360A probably benign Het
Tspear A G 10: 77,717,026 (GRCm39) Y567C probably damaging Het
Ttc28 A G 5: 111,433,254 (GRCm39) Q2096R probably benign Het
Ugt2b38 T G 5: 87,560,232 (GRCm39) N361H probably damaging Het
Unc80 C T 1: 66,560,740 (GRCm39) H823Y possibly damaging Het
Vmn2r111 T A 17: 22,790,028 (GRCm39) H326L probably damaging Het
Vmn2r18 A G 5: 151,510,301 (GRCm39) F24S possibly damaging Het
Vmn2r82 A T 10: 79,232,133 (GRCm39) I711F probably benign Het
Vwa8 C T 14: 79,341,134 (GRCm39) Q1537* probably null Het
Wdr64 G A 1: 175,603,288 (GRCm39) V630I probably benign Het
Wnt6 G T 1: 74,821,434 (GRCm39) W84L probably damaging Het
Zfp11 C A 5: 129,735,254 (GRCm39) R69L probably benign 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
IGL02657:Aldh1l1 APN 6 90,567,776 (GRCm39) missense probably damaging 1.00
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
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
Predicted Primers PCR Primer
(F):5'- ACAGCACTAGACTACCTGTGTCCC -3'
(R):5'- TAAGCCTTACTGCTGCAAGCCC -3'

Sequencing Primer
(F):5'- TGGGCTATCAGTCCCTTCAGG -3'
(R):5'- CAGGCCACTTCCCACTGTG -3'
Posted On 2014-03-28