Incidental Mutation 'R4855:Ufc1'
ID 373850
Institutional Source Beutler Lab
Gene Symbol Ufc1
Ensembl Gene ENSMUSG00000062963
Gene Name ubiquitin-fold modifier conjugating enzyme 1
Synonyms ESTM29, 1110021H02Rik
MMRRC Submission 042466-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.811) question?
Stock # R4855 (G1)
Quality Score 202
Status Validated
Chromosome 1
Chromosomal Location 171116137-171122575 bp(-) (GRCm39)
Type of Mutation utr 5 prime
DNA Base Change (assembly) A to G at 171122375 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000137977 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000080001] [ENSMUST00000111302] [ENSMUST00000144576]
AlphaFold Q9CR09
Predicted Effect probably benign
Transcript: ENSMUST00000080001
SMART Domains Protein: ENSMUSP00000078914
Gene: ENSMUSG00000062963

DomainStartEndE-ValueType
Pfam:UFC1 4 164 1.3e-93 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000111302
SMART Domains Protein: ENSMUSP00000106933
Gene: ENSMUSG00000062963

DomainStartEndE-ValueType
Pfam:UFC1 6 160 1.3e-88 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000138974
Predicted Effect probably benign
Transcript: ENSMUST00000144576
SMART Domains Protein: ENSMUSP00000137977
Gene: ENSMUSG00000062963

DomainStartEndE-ValueType
Pfam:UFC1 4 91 2e-45 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000152621
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.4%
  • 10x: 96.7%
  • 20x: 93.5%
Validation Efficiency 98% (93/95)
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: 83 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2700049A03Rik G T 12: 71,211,320 (GRCm39) E685* probably null Het
2700049A03Rik A T 12: 71,211,321 (GRCm39) E685V possibly damaging Het
Ablim2 C T 5: 35,959,766 (GRCm39) R73C possibly damaging Het
Adad1 G T 3: 37,139,260 (GRCm39) L443F probably damaging Het
Amph T A 13: 19,268,378 (GRCm39) M70K probably damaging Het
Ankra2 T A 13: 98,409,919 (GRCm39) L306H probably damaging Het
Arc A C 15: 74,543,592 (GRCm39) D210E probably benign Het
Arhgap10 A G 8: 78,159,367 (GRCm39) probably null Het
Atp8b5 T A 4: 43,344,449 (GRCm39) N445K probably benign Het
C1qc G T 4: 136,617,746 (GRCm39) Q117K probably benign Het
Cadps T A 14: 12,822,449 (GRCm38) E97V unknown Het
Capn13 GCA G 17: 73,658,501 (GRCm39) probably null Het
Cdk13 A T 13: 17,895,868 (GRCm39) W1014R probably damaging Het
Cltb C T 13: 54,746,908 (GRCm39) E23K probably damaging Het
Clvs2 A T 10: 33,498,642 (GRCm39) I96N probably damaging Het
Cwf19l1 A G 19: 44,103,006 (GRCm39) V403A probably damaging Het
Ddr2 A T 1: 169,816,066 (GRCm39) L547Q possibly damaging Het
Ebf1 A T 11: 44,863,735 (GRCm39) K354* probably null Het
Fat4 A G 3: 38,942,466 (GRCm39) Q453R probably benign Het
Gas2l3 CACTCGTCATACT CACT 10: 89,266,820 (GRCm39) probably benign Het
Gata6 A G 18: 11,054,497 (GRCm39) E142G possibly damaging Het
Gm14221 T C 2: 160,416,600 (GRCm39) noncoding transcript Het
Gm42791 C A 5: 148,896,247 (GRCm39) probably benign Het
Gm6370 G T 5: 146,430,621 (GRCm39) V269L probably benign Het
Gphn G A 12: 78,673,984 (GRCm39) V526M probably damaging Het
Gpt A T 15: 76,583,485 (GRCm39) E206V probably damaging Het
Grm3 G A 5: 9,620,047 (GRCm39) A399V probably damaging Het
Helq A T 5: 100,931,025 (GRCm39) V575E possibly damaging Het
Herc4 A G 10: 63,151,437 (GRCm39) probably null Het
Ifi207 A T 1: 173,557,381 (GRCm39) N452K probably damaging Het
Ikbke A G 1: 131,184,848 (GRCm39) probably null Het
Kbtbd2 A G 6: 56,756,687 (GRCm39) F350L probably benign Het
Kmt2c A G 5: 25,519,555 (GRCm39) V2185A probably benign Het
Lgi2 T C 5: 52,695,849 (GRCm39) Q362R probably damaging Het
Lrit1 G A 14: 36,783,773 (GRCm39) G367E possibly damaging Het
Lrp1 G A 10: 127,446,311 (GRCm39) H78Y probably benign Het
Matk A G 10: 81,098,720 (GRCm39) probably benign Het
Med21 G A 6: 146,549,690 (GRCm39) G24S probably damaging Het
Met G T 6: 17,558,796 (GRCm39) L1141F probably damaging Het
Mroh3 A T 1: 136,128,677 (GRCm39) probably null Het
Mrpl15 T C 1: 4,844,683 (GRCm39) I203V probably benign Het
Naip1 T C 13: 100,559,728 (GRCm39) probably null Het
Ndufa9 A C 6: 126,804,505 (GRCm39) Y298* probably null Het
Neb T C 2: 52,188,906 (GRCm39) E808G probably damaging Het
Nol4l C T 2: 153,253,726 (GRCm39) G616S probably benign Het
Oprm1 T A 10: 6,788,468 (GRCm39) C408S probably benign Het
Or2ag18 T C 7: 106,405,463 (GRCm39) M69V probably benign Het
Or4f14 A G 2: 111,742,444 (GRCm39) V277A probably benign Het
Or4k42 T G 2: 111,320,293 (GRCm39) D70A probably damaging Het
Or52e7 T A 7: 104,684,858 (GRCm39) I151N probably damaging Het
Or5ak20 T C 2: 85,183,793 (GRCm39) N159S possibly damaging Het
Paqr3 A G 5: 97,256,053 (GRCm39) I107T possibly damaging Het
Pex5l G A 3: 33,196,989 (GRCm39) probably benign Het
Phf8-ps C T 17: 33,285,713 (GRCm39) S363N probably benign Het
Pik3ap1 T C 19: 41,316,284 (GRCm39) D326G probably benign Het
Plaa G T 4: 94,474,645 (GRCm39) D252E probably damaging Het
Plxna2 G A 1: 194,480,040 (GRCm39) V1404I probably benign Het
Ppargc1a G A 5: 51,631,564 (GRCm39) A355V possibly damaging Het
Primpol A G 8: 47,039,726 (GRCm39) S350P probably benign Het
Prlr T C 15: 10,328,883 (GRCm39) S453P probably benign Het
Psmd5 T C 2: 34,742,564 (GRCm39) probably benign Het
Robo2 A T 16: 73,768,079 (GRCm39) V571E probably damaging Het
Sbspon A T 1: 15,929,264 (GRCm39) S176T possibly damaging Het
Scyl2 G A 10: 89,476,325 (GRCm39) probably benign Het
Sema3e T A 5: 14,280,144 (GRCm39) V341E probably damaging Het
Serpinb3b A T 1: 107,082,270 (GRCm39) F331L possibly damaging Het
Setd2 A G 9: 110,401,022 (GRCm39) H1736R probably benign Het
Sidt2 A T 9: 45,863,327 (GRCm39) D180E probably benign Het
Skint9 A T 4: 112,248,208 (GRCm39) Y179N probably benign Het
Slc27a5 T C 7: 12,722,560 (GRCm39) N638S probably benign Het
Slc6a4 T A 11: 76,904,135 (GRCm39) W197R probably damaging Het
Spag17 A T 3: 99,970,649 (GRCm39) M1278L probably benign Het
Sptbn1 T A 11: 30,092,353 (GRCm39) I471F probably damaging Het
Tasor2 A T 13: 3,616,680 (GRCm39) probably null Het
Teddm1a A G 1: 153,768,382 (GRCm39) Q282R probably benign Het
Tex35 A G 1: 156,927,295 (GRCm39) L160P probably damaging Het
Tfap2c T C 2: 172,393,438 (GRCm39) Y118H probably damaging Het
Tpp1 T C 7: 105,395,930 (GRCm39) Q533R probably benign Het
Ttc13 C T 8: 125,401,174 (GRCm39) D730N probably damaging Het
Vcpip1 A G 1: 9,817,589 (GRCm39) W265R probably damaging Het
Wdr11 C G 7: 129,202,158 (GRCm39) probably null Het
Xirp2 A G 2: 67,341,408 (GRCm39) I1216M possibly damaging Het
Zswim2 A G 2: 83,747,187 (GRCm39) probably null 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
R5390:Ufc1 UTSW 1 171,117,746 (GRCm39) missense probably damaging 1.00
R6382:Ufc1 UTSW 1 171,122,248 (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'- TTAAAACCGGAAGCGGCTTC -3'
(R):5'- ATAGGTGGACAGAGTAGCCC -3'

Sequencing Primer
(F):5'- TACGCGGTCAAGCACAG -3'
(R):5'- AGAGTAGCCCGCCTCCATTC -3'
Posted On 2016-03-01