Incidental Mutation 'R8247:Ufl1'
ID 640689
Institutional Source Beutler Lab
Gene Symbol Ufl1
Ensembl Gene ENSMUSG00000040359
Gene Name UFM1 specific ligase 1
Synonyms Rcad, 1810074P20Rik, Maxer
MMRRC Submission 067674-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.928) question?
Stock # R8247 (G1)
Quality Score 225.009
Status Validated
Chromosome 4
Chromosomal Location 25248600-25281821 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 25250606 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamic Acid to Glycine at position 749 (E749G)
Ref Sequence ENSEMBL: ENSMUSP00000100059 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000038705] [ENSMUST00000102994]
AlphaFold Q8CCJ3
Predicted Effect probably benign
Transcript: ENSMUST00000038705
AA Change: E669G

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000042118
Gene: ENSMUSG00000040359
AA Change: E669G

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: E749G

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000100059
Gene: ENSMUSG00000040359
AA Change: E749G

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
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 98.9%
Validation Efficiency 99% (69/70)
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: 70 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
5730596B20Rik T C 6: 52,155,942 (GRCm39) S3P unknown Het
Abca15 A T 7: 119,936,445 (GRCm39) Y170F possibly damaging Het
Alpl C T 4: 137,473,764 (GRCm39) V313M probably damaging Het
Ankrd44 T C 1: 54,792,102 (GRCm39) H311R probably damaging Het
Atm A T 9: 53,361,870 (GRCm39) L2749Q Het
Bicd2 C T 13: 49,533,462 (GRCm39) R683W probably damaging Het
Brat1 C A 5: 140,698,893 (GRCm39) P342T possibly damaging Het
Camta1 T A 4: 151,159,721 (GRCm39) T482S probably damaging Het
Carhsp1 A G 16: 8,481,535 (GRCm39) V67A probably damaging Het
Carmil1 T A 13: 24,282,998 (GRCm39) N512I probably damaging Het
Ccdc126 C T 6: 49,316,775 (GRCm39) T85M probably damaging Het
Cd274 C T 19: 29,362,795 (GRCm39) Q286* probably null Het
Cep192 T A 18: 67,974,188 (GRCm39) I1097N probably benign Het
Cimip4 A C 15: 78,262,992 (GRCm39) S221A probably benign Het
Clvs1 A T 4: 9,281,885 (GRCm39) N110Y possibly damaging Het
Cntln A G 4: 85,019,017 (GRCm39) T102A probably benign Het
Cp A C 3: 20,020,570 (GRCm39) I188L possibly damaging Het
Crh A G 3: 19,748,291 (GRCm39) L117P probably benign Het
Dcaf1 A T 9: 106,731,427 (GRCm39) I635F possibly damaging Het
Dennd2c A G 3: 103,059,637 (GRCm39) D521G probably damaging Het
E2f2 C T 4: 135,900,126 (GRCm39) T12M possibly damaging Het
Eid2 G A 7: 27,967,972 (GRCm39) R198H probably damaging Het
Exosc4 G T 15: 76,213,279 (GRCm39) C74F probably damaging Het
Fanca A T 8: 124,010,694 (GRCm39) probably benign Het
Ganc A T 2: 120,267,181 (GRCm39) Q499L probably null Het
Gfy T C 7: 44,827,710 (GRCm39) T129A possibly damaging Het
Gli3 G T 13: 15,901,360 (GRCm39) M1582I possibly damaging Het
Gm4744 A G 6: 40,926,402 (GRCm39) S63P Het
Htr2b T C 1: 86,027,817 (GRCm39) T230A probably benign Het
Iqcb1 T A 16: 36,678,836 (GRCm39) N383K probably benign Het
Lpcat1 A T 13: 73,662,071 (GRCm39) I471F probably damaging Het
Lrch3 T G 16: 32,829,713 (GRCm39) L781* probably null Het
Lrif1 T A 3: 106,641,692 (GRCm39) S3T probably damaging Het
Lrp2 T A 2: 69,261,431 (GRCm39) R4503S possibly damaging Het
Lrrc8c T C 5: 105,756,310 (GRCm39) I695T probably damaging Het
Mak G A 13: 41,193,146 (GRCm39) T473M possibly damaging Het
Map2k5 A T 9: 63,279,019 (GRCm39) Y62N probably damaging Het
Mbd3l2 T C 9: 18,356,299 (GRCm39) L208P probably damaging Het
Myo18b T C 5: 112,840,062 (GRCm39) E2577G probably damaging Het
Nfia A T 4: 97,953,644 (GRCm39) T461S probably benign Het
Oaz3 A G 3: 94,343,741 (GRCm39) Y41H probably damaging Het
Or10ab5 T A 7: 108,245,370 (GRCm39) I138F probably damaging Het
Or1p1 C A 11: 74,180,315 (GRCm39) T281K noncoding transcript Het
Or2ad1 A G 13: 21,326,295 (GRCm39) S311P probably benign Het
Or51m1 T C 7: 103,578,783 (GRCm39) V251A possibly damaging Het
Pin1rt1 T C 2: 104,544,892 (GRCm39) E80G probably damaging Het
Pmpcb T C 5: 21,961,852 (GRCm39) Y457H probably damaging Het
Polr2b T C 5: 77,468,062 (GRCm39) S121P possibly damaging Het
Ppm1e C T 11: 87,122,101 (GRCm39) G619R probably benign Het
Pramel5 T A 4: 143,999,395 (GRCm39) M231L probably damaging Het
Prex2 G T 1: 11,270,194 (GRCm39) C1293F probably benign Het
Psg20 A G 7: 18,416,562 (GRCm39) F185L probably benign Het
Psg28 A G 7: 18,156,864 (GRCm39) V457A probably benign Het
Pxmp2 A G 5: 110,422,445 (GRCm39) L188P probably damaging Het
Scd3 A T 19: 44,227,003 (GRCm39) N279I possibly damaging Het
Scg2 T G 1: 79,414,236 (GRCm39) K162N possibly damaging Het
Sipa1l2 T C 8: 126,149,372 (GRCm39) E1629G probably benign Het
Slc27a2 T A 2: 126,395,515 (GRCm39) F147L probably benign Het
Smco1 T C 16: 32,092,557 (GRCm39) V76A probably benign Het
Spic T C 10: 88,511,923 (GRCm39) K111R probably damaging Het
Spidr A G 16: 15,786,390 (GRCm39) probably null Het
Sptbn1 T A 11: 30,063,906 (GRCm39) I1971F possibly damaging Het
Stard8 C T X: 98,109,570 (GRCm39) S155L probably benign Het
Tiam1 G A 16: 89,695,037 (GRCm39) T140M probably benign Het
Ttc28 G A 5: 111,381,207 (GRCm39) D1240N probably benign Het
Vmn1r168 G T 7: 23,240,487 (GRCm39) V115F possibly damaging Het
Wars2 G A 3: 99,094,965 (GRCm39) V87I probably benign Het
Zdhhc14 T A 17: 5,736,031 (GRCm39) C170S probably damaging Het
Zfp113 C T 5: 138,143,296 (GRCm39) C318Y possibly damaging Het
Zfp367 A G 13: 64,300,482 (GRCm39) S108P probably benign 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
IGL02228:Ufl1 APN 4 25,281,686 (GRCm39) missense probably benign
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
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
Predicted Primers PCR Primer
(F):5'- GATCACTCACCTACTTTGGGG -3'
(R):5'- GCCAGGTTCAGCTTTCCATTAAC -3'

Sequencing Primer
(F):5'- TCACTCACCTACTTTGGGGAAAATAC -3'
(R):5'- CCATTGTTCCGTGAAGATAAGGC -3'
Posted On 2020-07-28