Incidental Mutation 'R6382:Ufc1'
ID 515351
Institutional Source Beutler Lab
Gene Symbol Ufc1
Ensembl Gene ENSMUSG00000062963
Gene Name ubiquitin-fold modifier conjugating enzyme 1
Synonyms ESTM29, 1110021H02Rik
MMRRC Submission 044531-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.811) question?
Stock # R6382 (G1)
Quality Score 225.009
Status Validated
Chromosome 1
Chromosomal Location 171116137-171122575 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 171122248 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tryptophan to Arginine at position 28 (W28R)
Ref Sequence ENSEMBL: ENSMUSP00000137977 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000080001] [ENSMUST00000111302] [ENSMUST00000144576]
AlphaFold Q9CR09
Predicted Effect probably damaging
Transcript: ENSMUST00000080001
AA Change: W28R

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000078914
Gene: ENSMUSG00000062963
AA Change: W28R

DomainStartEndE-ValueType
Pfam:UFC1 4 164 1.3e-93 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000111302
AA Change: W28R

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000106933
Gene: ENSMUSG00000062963
AA Change: W28R

DomainStartEndE-ValueType
Pfam:UFC1 6 160 1.3e-88 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000138974
Predicted Effect probably damaging
Transcript: ENSMUST00000144576
AA Change: W28R

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000137977
Gene: ENSMUSG00000062963
AA Change: W28R

DomainStartEndE-ValueType
Pfam:UFC1 4 91 2e-45 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000152621
Meta Mutation Damage Score 0.9393 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.4%
  • 20x: 97.5%
Validation Efficiency 100% (55/55)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] UFC1 is an E2-like conjugating enzyme for ubiquitin-fold modifier-1 (UFM1; MIM 610553) (Komatsu et al., 2004 [PubMed 15071506]).[supplied by OMIM, Mar 2008]
Allele List at MGI
Other mutations in this stock
Total: 55 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abat T A 16: 8,418,850 (GRCm39) M148K probably benign Het
Aldoc T C 11: 78,216,568 (GRCm39) I242T probably benign Het
Camta2 T C 11: 70,562,867 (GRCm39) T927A probably damaging Het
Ccdc30 T C 4: 119,261,363 (GRCm39) R25G possibly damaging Het
Cdh16 T A 8: 105,348,175 (GRCm39) M181L possibly damaging Het
Clstn1 A T 4: 149,710,577 (GRCm39) probably null Het
Cnot6l C A 5: 96,276,858 (GRCm39) R110L probably damaging Het
Col7a1 G A 9: 108,804,461 (GRCm39) S2264N unknown Het
Cspp1 A G 1: 10,153,700 (GRCm39) probably null Het
Cul1 T A 6: 47,479,373 (GRCm39) L213Q probably damaging Het
Cuta T C 17: 27,157,428 (GRCm39) Q124R probably benign Het
Cyp1a1 T A 9: 57,607,973 (GRCm39) N200K probably damaging Het
Dag1 C A 9: 108,085,336 (GRCm39) A602S possibly damaging Het
Ftdc1 T C 16: 58,434,273 (GRCm39) E148G possibly damaging Het
Gm4707 G A 17: 71,766,238 (GRCm39) probably benign Het
Gpat2 G C 2: 127,273,838 (GRCm39) G294R possibly damaging Het
H2-T23 T C 17: 36,342,724 (GRCm39) Y138C probably damaging Het
Hnf4a A T 2: 163,410,926 (GRCm39) M408L probably benign Het
Hpse2 A G 19: 43,376,641 (GRCm39) L37P possibly damaging Het
Hsd17b6 A T 10: 127,827,196 (GRCm39) I292N probably damaging Het
Hsp90aa1 A T 12: 110,661,951 (GRCm39) probably null Het
Ifit1bl1 T A 19: 34,572,283 (GRCm39) Y58F probably benign Het
Igkv10-95 A G 6: 68,657,672 (GRCm39) T43A probably benign Het
Igkv6-17 C T 6: 70,348,814 (GRCm39) Q62* probably null Het
Jakmip2 A G 18: 43,704,244 (GRCm39) S367P possibly damaging Het
Lrrc40 A G 3: 157,764,333 (GRCm39) D416G probably damaging Het
Mdm2 A G 10: 117,528,626 (GRCm39) V177A probably benign Het
Mpp1 TGAGACGAACTCTCCGAG TGAG X: 74,169,375 (GRCm39) probably null Het
Myo1b C T 1: 51,813,466 (GRCm39) probably null Het
Notch2 A G 3: 98,048,859 (GRCm39) D1799G probably damaging Het
Obscn C T 11: 58,890,239 (GRCm39) G7431D unknown Het
Obscn A T 11: 58,933,034 (GRCm39) C4781S probably damaging Het
Or2a14 T A 6: 43,130,899 (GRCm39) I220N probably damaging Het
Or7a35 C A 10: 78,853,351 (GRCm39) S65Y probably damaging Het
Pard3 T A 8: 128,103,264 (GRCm39) V411D probably damaging Het
Pfkl T C 10: 77,835,671 (GRCm39) R246G probably damaging Het
Pgs1 T C 11: 117,894,186 (GRCm39) Y238H probably damaging Het
Pik3c2g A G 6: 139,665,724 (GRCm39) E15G possibly damaging Het
Pja2 A G 17: 64,616,610 (GRCm39) V95A probably benign Het
Ripor2 T C 13: 24,861,828 (GRCm39) I207T possibly damaging Het
Rps15 A G 10: 80,129,820 (GRCm39) Y115C probably damaging Het
Shkbp1 C A 7: 27,051,484 (GRCm39) E192* probably null Het
Slc23a4 T A 6: 34,933,978 (GRCm39) M42L probably benign Het
Snx25 T A 8: 46,509,028 (GRCm39) S373C probably benign Het
Sppl2a A T 2: 126,758,949 (GRCm39) probably null Het
Tektl1 G A 10: 78,588,675 (GRCm39) T45I possibly damaging Het
Tpcn2 A G 7: 144,823,486 (GRCm39) S256P possibly damaging Het
Txk C T 5: 72,893,823 (GRCm39) probably benign Het
Ubr2 C G 17: 47,268,241 (GRCm39) W991S possibly damaging Het
Unc93b1 C A 19: 3,985,297 (GRCm39) A35E probably benign Het
Ush2a A G 1: 188,546,499 (GRCm39) N3425S probably benign Het
Vmn1r32 A G 6: 66,530,345 (GRCm39) Y144H probably benign Het
Vmn1r76 A G 7: 11,664,426 (GRCm39) F228L probably damaging Het
Zfc3h1 A G 10: 115,243,813 (GRCm39) N715D probably benign Het
Zfp933 T C 4: 147,910,325 (GRCm39) S424G probably benign Het
Other mutations in Ufc1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02641:Ufc1 APN 1 171,117,764 (GRCm39) missense probably damaging 1.00
R0452:Ufc1 UTSW 1 171,117,527 (GRCm39) unclassified probably benign
R1226:Ufc1 UTSW 1 171,116,810 (GRCm39) missense probably benign
R2314:Ufc1 UTSW 1 171,116,821 (GRCm39) missense probably damaging 1.00
R3821:Ufc1 UTSW 1 171,117,172 (GRCm39) unclassified probably benign
R4642:Ufc1 UTSW 1 171,117,467 (GRCm39) missense probably benign 0.27
R4855:Ufc1 UTSW 1 171,122,375 (GRCm39) utr 5 prime probably benign
R5390:Ufc1 UTSW 1 171,117,746 (GRCm39) missense probably damaging 1.00
R6419:Ufc1 UTSW 1 171,116,529 (GRCm39) missense probably damaging 1.00
R7905:Ufc1 UTSW 1 171,117,508 (GRCm39) missense probably damaging 0.99
R8794:Ufc1 UTSW 1 171,117,095 (GRCm39) missense probably damaging 0.98
Predicted Primers PCR Primer
(F):5'- GCCGGAATCTCTTCTGCATC -3'
(R):5'- GCCTCCTCTTCCCACAGTAAAG -3'

Sequencing Primer
(F):5'- CCCCCAAACAATCGCATTTATATG -3'
(R):5'- TCTTCCCACAGTAAAGATGGCG -3'
Posted On 2018-05-04