Incidental Mutation 'R4818:Aldh1l1'
ID 369992
Institutional Source Beutler Lab
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 # R4818 (G1)
Quality Score 225
Status Validated
Chromosome 6
Chromosomal Location 90527751-90576153 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 90573897 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Histidine at position 799 (Y799H)
Ref Sequence ENSEMBL: ENSMUSP00000114304 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000032175] [ENSMUST00000130418] [ENSMUST00000204796]
AlphaFold Q8R0Y6
Predicted Effect probably benign
Transcript: ENSMUST00000032175
AA Change: Y799H

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000032175
Gene: ENSMUSG00000030088
AA Change: Y799H

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 benign
Transcript: ENSMUST00000130418
AA Change: Y799H

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000114304
Gene: ENSMUSG00000030088
AA Change: Y799H

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 noncoding transcript
Transcript: ENSMUST00000161447
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 0.0898 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.4%
  • 10x: 96.8%
  • 20x: 94.1%
Validation Efficiency 100% (73/73)
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: 61 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4932414N04Rik A G 2: 68,571,810 (GRCm39) E562G probably benign Het
5730522E02Rik A G 11: 25,720,472 (GRCm39) probably null Het
A930033H14Rik A T 10: 69,048,190 (GRCm39) probably benign Het
Abca17 C T 17: 24,536,135 (GRCm39) E511K probably damaging Het
Abca9 C T 11: 110,045,980 (GRCm39) probably null Het
Abhd5 T A 9: 122,192,865 (GRCm39) probably null Het
Adra2b G A 2: 127,206,012 (GRCm39) W171* probably null Het
Ahcyl G A 16: 45,974,555 (GRCm39) T274I probably damaging Het
Arfgef1 A G 1: 10,286,772 (GRCm39) V46A probably benign Het
Arhgap40 A G 2: 158,381,639 (GRCm39) E374G probably damaging Het
Arhgef5 G A 6: 43,250,484 (GRCm39) V412I probably benign Het
Arid3c T C 4: 41,730,072 (GRCm39) E41G possibly damaging Het
Atp8b4 T A 2: 126,164,736 (GRCm39) K1193N probably benign Het
C4a C T 17: 35,035,975 (GRCm39) noncoding transcript Het
Chst2 C T 9: 95,287,417 (GRCm39) D310N probably damaging Het
Crtc3 T C 7: 80,327,170 (GRCm39) Q52R possibly damaging Het
Crybg1 T C 10: 43,874,583 (GRCm39) I842V probably benign Het
Dennd4c T C 4: 86,743,511 (GRCm39) S1167P probably benign Het
Edem3 T C 1: 151,668,136 (GRCm39) V305A possibly damaging Het
Epha10 T A 4: 124,780,007 (GRCm39) probably null Het
Epha6 C A 16: 59,474,426 (GRCm39) R1117L probably damaging Het
Fdx2 T C 9: 20,979,160 (GRCm39) I144V possibly damaging Het
Gm10762 C T 2: 128,809,106 (GRCm39) W81* probably null Het
Hus1 A G 11: 8,946,808 (GRCm39) probably benign Het
Igbp1b C T 6: 138,634,803 (GRCm39) E214K probably benign Het
Inpp5f A G 7: 128,286,853 (GRCm39) I577M probably damaging Het
Kansl2 G A 15: 98,424,542 (GRCm39) T296I possibly damaging Het
Kcna6 A G 6: 126,715,387 (GRCm39) F501L probably benign Het
Kirrel2 A T 7: 30,149,293 (GRCm39) V579D probably benign Het
Larp1b T C 3: 40,925,005 (GRCm39) Y208H probably damaging Het
Lipf A T 19: 33,943,088 (GRCm39) D132V probably benign Het
Lsm12 T C 11: 102,057,989 (GRCm39) K40E probably damaging Het
Mastl A G 2: 23,027,038 (GRCm39) S275P probably benign Het
Mettl25b C A 3: 87,832,305 (GRCm39) R293L probably benign Het
Mrpl44 A G 1: 79,758,694 (GRCm39) I281V probably benign Het
Mtf1 T A 4: 124,698,505 (GRCm39) M1K probably null Het
Muc4 G C 16: 32,753,919 (GRCm38) R1265P probably benign Het
Myh2 G A 11: 67,067,081 (GRCm39) G179R probably damaging Het
Nfasc T C 1: 132,531,568 (GRCm39) T739A possibly damaging Het
Nfatc3 G A 8: 106,835,011 (GRCm39) V778I probably benign Het
Notch4 A G 17: 34,797,690 (GRCm39) probably benign Het
Npm2 T C 14: 70,889,842 (GRCm39) N24S probably benign Het
Obox7 T A 7: 14,398,410 (GRCm39) L108Q probably damaging Het
Or51ah3 T A 7: 103,209,968 (GRCm39) F95I probably benign Het
Pax3 A G 1: 78,108,869 (GRCm39) V263A probably damaging Het
Pdlim1 C T 19: 40,211,580 (GRCm39) V238I probably damaging Het
Pik3ip1 G A 11: 3,280,928 (GRCm39) probably benign Het
Ptprq A G 10: 107,546,442 (GRCm39) V284A possibly damaging Het
Rad9b G A 5: 122,477,839 (GRCm39) T179I probably damaging Het
Sirt4 G T 5: 115,617,785 (GRCm39) D290E possibly damaging Het
Skint6 T A 4: 112,812,589 (GRCm39) probably benign Het
Slc18a1 A C 8: 69,492,951 (GRCm39) I466S probably damaging Het
Slc35e4 C T 11: 3,862,889 (GRCm39) R100H probably benign Het
Sptbn5 T G 2: 119,898,449 (GRCm39) K470Q probably benign Het
Tas1r1 C G 4: 152,117,131 (GRCm39) V168L probably benign Het
Tmem233 T A 5: 116,221,222 (GRCm39) Q8L possibly damaging Het
Ttc17 G T 2: 94,163,236 (GRCm39) Q862K possibly damaging Het
Zdhhc1 CGGGGG CGGGGGG 8: 106,210,376 (GRCm39) probably null Het
Zfp1004 T A 2: 150,033,981 (GRCm39) C132S probably damaging Het
Zfp229 T C 17: 21,962,885 (GRCm39) I68T probably benign Het
Zfp423 A G 8: 88,631,128 (GRCm39) V30A 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
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
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'- CCAGTCAAGAGCAGGACAGATC -3'
(R):5'- CAGGTTCTCTGCTGACTCAG -3'

Sequencing Primer
(F):5'- GCCATTTTTACTGGAAGGGAGAG -3'
(R):5'- GACTCAGTCTCCTCCTCATGGG -3'
Posted On 2016-02-04