Incidental Mutation 'IGL02228:Ufl1'
ID 285403
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Ufl1
Ensembl Gene ENSMUSG00000040359
Gene Name UFM1 specific ligase 1
Synonyms Rcad, 1810074P20Rik, Maxer
Accession Numbers
Essential gene? Probably essential (E-score: 0.928) question?
Stock # IGL02228
Quality Score
Status
Chromosome 4
Chromosomal Location 25248600-25281821 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 25281686 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Threonine at position 23 (S23T)
Ref Sequence ENSEMBL: ENSMUSP00000100059 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000038705] [ENSMUST00000102994]
AlphaFold Q8CCJ3
Predicted Effect probably benign
Transcript: ENSMUST00000038705
SMART Domains Protein: ENSMUSP00000042118
Gene: ENSMUSG00000040359

DomainStartEndE-ValueType
Pfam:DUF2042 2 205 1.5e-70 PFAM
low complexity region 334 344 N/A INTRINSIC
low complexity region 348 358 N/A INTRINSIC
low complexity region 364 374 N/A INTRINSIC
low complexity region 375 385 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000102994
AA Change: S23T

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000100059
Gene: ENSMUSG00000040359
AA Change: S23T

DomainStartEndE-ValueType
Pfam:DUF2042 7 284 4.8e-117 PFAM
low complexity region 414 424 N/A INTRINSIC
low complexity region 428 438 N/A INTRINSIC
low complexity region 444 454 N/A INTRINSIC
low complexity region 455 465 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000132558
Predicted Effect noncoding transcript
Transcript: ENSMUST00000142949
Coding Region Coverage
Validation Efficiency
MGI Phenotype PHENOTYPE: Mice homozygous for a knock-out allele exhibit embryonic lethality during organogensis, anemia and decreased erythroid progenitor cell number. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 34 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acot1 T C 12: 84,063,738 (GRCm39) V282A probably benign Het
Acsm5 A G 7: 119,131,089 (GRCm39) D169G probably damaging Het
Adam8 C T 7: 139,568,719 (GRCm39) probably null Het
Agpat1 T C 17: 34,829,536 (GRCm39) F37L possibly damaging Het
Asah2 A T 19: 31,994,114 (GRCm39) D410E probably benign Het
Atg2a T A 19: 6,296,830 (GRCm39) V378D probably benign Het
Atp1a4 T C 1: 172,082,452 (GRCm39) Y130C possibly damaging Het
Bnc2 T C 4: 84,211,313 (GRCm39) H419R possibly damaging Het
Capza3 A G 6: 139,987,641 (GRCm39) D80G probably benign Het
Col6a4 C T 9: 105,945,277 (GRCm39) D946N probably benign Het
Crat T C 2: 30,303,194 (GRCm39) H31R probably damaging Het
Dsc2 A G 18: 20,176,790 (GRCm39) V419A probably damaging Het
Ebf1 T C 11: 44,863,739 (GRCm39) V363A probably damaging Het
Lcp2 T C 11: 33,997,424 (GRCm39) F24S probably damaging Het
Lgmn G A 12: 102,361,973 (GRCm39) T376I probably benign Het
Lrrc8d C T 5: 105,959,730 (GRCm39) L47F probably benign Het
Mier1 T A 4: 102,988,259 (GRCm39) M44K possibly damaging Het
Ogfod1 C A 8: 94,789,615 (GRCm39) Q439K probably benign Het
Or6aa1 A C 7: 86,044,286 (GRCm39) I140S possibly damaging Het
Pcgf6 A C 19: 47,036,421 (GRCm39) F216C probably damaging Het
Pcnt C T 10: 76,225,308 (GRCm39) R1732K probably benign Het
Pramel17 T C 4: 101,694,055 (GRCm39) Y276C probably benign Het
Pramel31 A G 4: 144,089,231 (GRCm39) K183R probably damaging Het
Rbbp4 A T 4: 129,211,543 (GRCm39) H370Q probably damaging Het
Reln A G 5: 22,109,729 (GRCm39) V3127A probably damaging Het
Rttn T A 18: 89,060,355 (GRCm39) V1019E probably damaging Het
Serpina9 C T 12: 103,974,859 (GRCm39) R98Q probably benign Het
Slc16a7 C A 10: 125,066,667 (GRCm39) G324V probably damaging Het
Slc22a3 A G 17: 12,678,697 (GRCm39) L209P probably damaging Het
Tet1 T A 10: 62,649,513 (GRCm39) T1695S probably damaging Het
Tulp3 G A 6: 128,311,448 (GRCm39) T74M probably damaging Het
Ube3a A G 7: 58,938,144 (GRCm39) probably benign Het
Unc80 A G 1: 66,647,587 (GRCm39) E1509G possibly damaging Het
Wnk2 A T 13: 49,210,416 (GRCm39) I1801N probably damaging Het
Other mutations in Ufl1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00703:Ufl1 APN 4 25,280,631 (GRCm39) missense possibly damaging 0.67
IGL00899:Ufl1 APN 4 25,262,238 (GRCm39) missense probably damaging 1.00
IGL00928:Ufl1 APN 4 25,267,790 (GRCm39) missense probably damaging 1.00
IGL00949:Ufl1 APN 4 25,275,822 (GRCm39) missense probably damaging 0.99
IGL02179:Ufl1 APN 4 25,254,896 (GRCm39) missense probably damaging 0.99
IGL02237:Ufl1 APN 4 25,269,082 (GRCm39) missense probably benign 0.01
IGL02294:Ufl1 APN 4 25,259,281 (GRCm39) nonsense probably null
IGL02331:Ufl1 APN 4 25,251,971 (GRCm39) missense probably damaging 1.00
IGL02374:Ufl1 APN 4 25,259,237 (GRCm39) missense probably benign 0.01
IGL02541:Ufl1 APN 4 25,250,534 (GRCm39) missense possibly damaging 0.56
IGL03053:Ufl1 APN 4 25,275,833 (GRCm39) missense probably damaging 0.99
R0054:Ufl1 UTSW 4 25,269,087 (GRCm39) missense probably damaging 0.96
R0054:Ufl1 UTSW 4 25,269,087 (GRCm39) missense probably damaging 0.96
R0164:Ufl1 UTSW 4 25,256,008 (GRCm39) missense probably benign 0.00
R0164:Ufl1 UTSW 4 25,256,008 (GRCm39) missense probably benign 0.00
R0172:Ufl1 UTSW 4 25,280,685 (GRCm39) missense probably benign 0.32
R2069:Ufl1 UTSW 4 25,269,036 (GRCm39) missense possibly damaging 0.75
R4320:Ufl1 UTSW 4 25,278,601 (GRCm39) splice site probably null
R4467:Ufl1 UTSW 4 25,254,806 (GRCm39) missense probably damaging 1.00
R4993:Ufl1 UTSW 4 25,267,832 (GRCm39) missense possibly damaging 0.70
R5049:Ufl1 UTSW 4 25,254,773 (GRCm39) missense probably benign 0.17
R5071:Ufl1 UTSW 4 25,254,780 (GRCm39) missense probably benign
R5072:Ufl1 UTSW 4 25,254,780 (GRCm39) missense probably benign
R5073:Ufl1 UTSW 4 25,254,780 (GRCm39) missense probably benign
R5099:Ufl1 UTSW 4 25,275,914 (GRCm39) missense probably damaging 0.99
R5108:Ufl1 UTSW 4 25,269,026 (GRCm39) critical splice donor site probably null
R5127:Ufl1 UTSW 4 25,256,010 (GRCm39) missense probably benign 0.05
R5262:Ufl1 UTSW 4 25,251,294 (GRCm39) intron probably benign
R5409:Ufl1 UTSW 4 25,280,706 (GRCm39) missense probably damaging 1.00
R5942:Ufl1 UTSW 4 25,250,619 (GRCm39) missense probably benign
R6031:Ufl1 UTSW 4 25,278,038 (GRCm39) missense probably benign 0.09
R6031:Ufl1 UTSW 4 25,278,038 (GRCm39) missense probably benign 0.09
R6107:Ufl1 UTSW 4 25,251,999 (GRCm39) missense possibly damaging 0.88
R6157:Ufl1 UTSW 4 25,279,350 (GRCm39) missense possibly damaging 0.83
R6296:Ufl1 UTSW 4 25,270,572 (GRCm39) missense probably benign
R6360:Ufl1 UTSW 4 25,265,476 (GRCm39) missense probably benign
R6514:Ufl1 UTSW 4 25,262,238 (GRCm39) missense probably damaging 1.00
R6754:Ufl1 UTSW 4 25,267,796 (GRCm39) nonsense probably null
R6755:Ufl1 UTSW 4 25,262,316 (GRCm39) missense probably damaging 0.96
R7196:Ufl1 UTSW 4 25,250,669 (GRCm39) missense probably benign 0.05
R7247:Ufl1 UTSW 4 25,254,637 (GRCm39) missense probably damaging 1.00
R7287:Ufl1 UTSW 4 25,254,852 (GRCm39) missense probably benign 0.04
R7755:Ufl1 UTSW 4 25,262,274 (GRCm39) missense probably benign
R8156:Ufl1 UTSW 4 25,269,057 (GRCm39) missense probably damaging 1.00
R8235:Ufl1 UTSW 4 25,278,656 (GRCm39) missense probably benign 0.31
R8247:Ufl1 UTSW 4 25,250,606 (GRCm39) missense probably benign
R8933:Ufl1 UTSW 4 25,262,258 (GRCm39) missense possibly damaging 0.62
R9008:Ufl1 UTSW 4 25,254,778 (GRCm39) nonsense probably null
R9147:Ufl1 UTSW 4 25,278,712 (GRCm39) splice site probably benign
R9197:Ufl1 UTSW 4 25,250,519 (GRCm39) missense possibly damaging 0.50
R9404:Ufl1 UTSW 4 25,275,912 (GRCm39) missense probably benign 0.00
R9601:Ufl1 UTSW 4 25,275,807 (GRCm39) missense probably benign 0.22
RF037:Ufl1 UTSW 4 25,280,628 (GRCm39) missense possibly damaging 0.67
RF039:Ufl1 UTSW 4 25,280,628 (GRCm39) missense possibly damaging 0.67
V7732:Ufl1 UTSW 4 25,251,368 (GRCm39) missense probably damaging 0.98
Posted On 2015-04-16