Incidental Mutation 'R7142:Aldh1l1'
ID 553465
Institutional Source Beutler Lab
Gene Symbol Aldh1l1
Ensembl Gene ENSMUSG00000030088
Gene Name aldehyde dehydrogenase 1 family, member L1
Synonyms Fthfd, 1810048F20Rik
MMRRC Submission 045250-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R7142 (G1)
Quality Score 225.009
Status Validated
Chromosome 6
Chromosomal Location 90527751-90576153 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 90540398 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Asparagine at position 228 (D228N)
Ref Sequence ENSEMBL: ENSMUSP00000032175 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000032175] [ENSMUST00000130418] [ENSMUST00000203111] [ENSMUST00000204796]
AlphaFold Q8R0Y6
Predicted Effect probably damaging
Transcript: ENSMUST00000032175
AA Change: D228N

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000032175
Gene: ENSMUSG00000030088
AA Change: D228N

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: D228N

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000114304
Gene: ENSMUSG00000030088
AA Change: D228N

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: ENSMUST00000203111
SMART Domains Protein: ENSMUSP00000145233
Gene: ENSMUSG00000030088

DomainStartEndE-ValueType
Pfam:Formyl_trans_N 4 135 4.2e-42 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000204796
AA Change: D228N

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000145380
Gene: ENSMUSG00000030088
AA Change: D228N

DomainStartEndE-ValueType
Pfam:Formyl_trans_N 1 180 3e-53 PFAM
Pfam:Formyl_trans_C 204 310 1.5e-17 PFAM
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.7%
  • 20x: 99.1%
Validation Efficiency 98% (63/64)
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: 64 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2610008E11Rik T A 10: 78,903,446 (GRCm39) H290L probably damaging Het
Abca1 T A 4: 53,082,050 (GRCm39) S737C probably damaging Het
Abca14 G C 7: 119,850,406 (GRCm39) V753L possibly damaging Het
Adgrl1 C T 8: 84,663,829 (GRCm39) H1099Y probably benign Het
Akap6 T G 12: 52,934,147 (GRCm39) D546E probably benign Het
Cacna1e G T 1: 154,288,230 (GRCm39) Q1883K probably damaging Het
Caskin2 A G 11: 115,697,562 (GRCm39) Y125H probably benign Het
Ccdc85a A T 11: 28,527,192 (GRCm39) Y139N probably damaging Het
Cd93 C T 2: 148,283,725 (GRCm39) W540* probably null Het
Cdh3 G A 8: 107,271,860 (GRCm39) probably null Het
Chmp2b G A 16: 65,343,794 (GRCm39) Q88* probably null Het
Cpt1a T C 19: 3,425,100 (GRCm39) M489T probably benign Het
Ctsk G A 3: 95,414,259 (GRCm39) V274M possibly damaging Het
Cyp3a44 A G 5: 145,714,771 (GRCm39) V460A probably benign Het
Cypt4 C T 9: 24,536,740 (GRCm39) R77* probably null Het
D6Ertd527e C G 6: 87,088,506 (GRCm39) T223S unknown Het
Dnah7a A T 1: 53,452,927 (GRCm39) Y3850* probably null Het
Drosha A T 15: 12,924,232 (GRCm39) T1205S possibly damaging Het
Eif3j2 T C 18: 43,610,465 (GRCm39) E116G probably damaging Het
Ercc5 A G 1: 44,213,374 (GRCm39) E790G probably damaging Het
Fam163b C T 2: 27,003,567 (GRCm39) R29Q probably damaging Het
Fbxo44 C T 4: 148,243,269 (GRCm39) G50E unknown Het
Foxo3 T C 10: 42,150,591 (GRCm39) probably null Het
Gnal C T 18: 67,351,599 (GRCm39) P386L probably damaging Het
Gpc5 T A 14: 115,654,615 (GRCm39) H478Q probably benign Het
Grhl2 A T 15: 37,279,826 (GRCm39) D178V probably benign Het
Gtf2i C A 5: 134,273,705 (GRCm39) V755L possibly damaging Het
Hal T C 10: 93,336,513 (GRCm39) V414A possibly damaging Het
Hmx2 T C 7: 131,157,465 (GRCm39) V193A probably damaging Het
Il17a T A 1: 20,802,327 (GRCm39) M12K probably benign Het
Invs T A 4: 48,407,696 (GRCm39) I557N probably damaging Het
Kng1 T A 16: 22,898,170 (GRCm39) H523Q probably benign Het
Lrp4 T A 2: 91,325,339 (GRCm39) I1388N probably damaging Het
Mboat4 A G 8: 34,587,291 (GRCm39) I63V probably benign Het
Mcoln2 G A 3: 145,889,324 (GRCm39) probably null Het
Mgat5 A T 1: 127,339,924 (GRCm39) D435V probably damaging Het
Mri1 C A 8: 84,983,753 (GRCm39) R46L probably damaging Het
Mxra8 A T 4: 155,927,519 (GRCm39) Y409F probably benign Het
Nlrp1b T A 11: 71,062,901 (GRCm39) R720* probably null Het
Ofcc1 T C 13: 40,157,538 (GRCm39) I887V probably benign Het
Or5l13 T C 2: 87,780,056 (GRCm39) I174V probably benign Het
Otud4 T A 8: 80,399,391 (GRCm39) probably null Het
P3h1 T A 4: 119,104,358 (GRCm39) D626E probably benign Het
Pde2a A T 7: 101,153,857 (GRCm39) D485V probably damaging Het
Phldb2 G A 16: 45,577,539 (GRCm39) R1129* probably null Het
Pkn1 T C 8: 84,420,596 (GRCm39) E10G possibly damaging Het
Psd2 A G 18: 36,113,097 (GRCm39) D264G possibly damaging Het
Psg29 A G 7: 16,944,546 (GRCm39) D352G probably damaging Het
Rgs14 T C 13: 55,527,417 (GRCm39) S218P probably damaging Het
Sec14l2 T C 11: 4,048,379 (GRCm39) T380A probably benign Het
Septin12 T C 16: 4,806,226 (GRCm39) T312A unknown Het
Skint5 A T 4: 113,428,791 (GRCm39) V1075E unknown Het
Ston2 A G 12: 91,614,009 (GRCm39) S800P probably damaging Het
Tmem106b A G 6: 13,081,564 (GRCm39) N157S probably damaging Het
Tmem132b G A 5: 125,699,737 (GRCm39) G133S probably damaging Het
Tmie A T 9: 110,699,749 (GRCm39) M55K possibly damaging Het
Trpc6 A T 9: 8,653,017 (GRCm39) R608* probably null Het
Unc93a2 G A 17: 7,644,021 (GRCm39) T96I probably damaging Het
Usp35 A G 7: 96,960,754 (GRCm39) S891P probably damaging Het
Vmn1r178 A G 7: 23,593,035 (GRCm39) T28A probably damaging Het
Wnk1 T A 6: 119,926,240 (GRCm39) M1324L probably benign Het
Wrnip1 C A 13: 32,986,616 (GRCm39) S132R possibly damaging Het
Wsb1 T C 11: 79,141,814 (GRCm39) K68E probably benign Het
Zfp433 A T 10: 81,556,040 (GRCm39) K181* probably null 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
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
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'- GCTCTGCACTCAGACACATG -3'
(R):5'- GCAGACATCTCACTTTTAGCTC -3'

Sequencing Primer
(F):5'- CACATGTCTAGGAGGAAGCCC -3'
(R):5'- TACAGGGTCTCCTAGTCCTGGAG -3'
Posted On 2019-05-15