Incidental Mutation 'R4241:Ubfd1'
ID320217
Institutional Source Beutler Lab
Gene Symbol Ubfd1
Ensembl Gene ENSMUSG00000030870
Gene Nameubiquitin family domain containing 1
SynonymsD7Wsu128e, D7Wsu105e
MMRRC Submission 041058-MU
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.167) question?
Stock #R4241 (G1)
Quality Score225
Status Validated
Chromosome7
Chromosomal Location122067175-122082194 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 122071754 bp
ZygosityHeterozygous
Amino Acid Change Valine to Alanine at position 265 (V265A)
Ref Sequence ENSEMBL: ENSMUSP00000033158 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000033158] [ENSMUST00000033159]
PDB Structure
Solution structure of the ubiquitin domain from mouse D7Wsu128e protein [SOLUTION NMR]
Predicted Effect possibly damaging
Transcript: ENSMUST00000033158
AA Change: V265A

PolyPhen 2 Score 0.565 (Sensitivity: 0.88; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000033158
Gene: ENSMUSG00000030870
AA Change: V265A

DomainStartEndE-ValueType
low complexity region 3 15 N/A INTRINSIC
low complexity region 76 87 N/A INTRINSIC
low complexity region 93 104 N/A INTRINSIC
low complexity region 114 128 N/A INTRINSIC
UBQ 145 214 8.34e-16 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000033159
SMART Domains Protein: ENSMUSP00000033159
Gene: ENSMUSG00000030871

DomainStartEndE-ValueType
Pfam:tRNA-synt_1c 36 353 3.5e-88 PFAM
low complexity region 448 460 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000124733
Predicted Effect noncoding transcript
Transcript: ENSMUST00000133390
Predicted Effect noncoding transcript
Transcript: ENSMUST00000147397
Predicted Effect noncoding transcript
Transcript: ENSMUST00000148060
Predicted Effect noncoding transcript
Transcript: ENSMUST00000151530
Predicted Effect unknown
Transcript: ENSMUST00000153640
AA Change: V48A
Meta Mutation Damage Score 0.0597 question?
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.8%
  • 10x: 97.6%
  • 20x: 95.9%
Validation Efficiency 98% (49/50)
Allele List at MGI
Other mutations in this stock
Total: 44 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
9530053A07Rik A G 7: 28,154,335 S1575G probably damaging Het
Agl A T 3: 116,754,848 probably benign Het
Ap5b1 C T 19: 5,568,797 L82F possibly damaging Het
Arfgef3 A G 10: 18,625,164 S1113P probably damaging Het
Atoh1 A C 6: 64,729,774 N151T probably damaging Het
Bcas3 T A 11: 85,470,826 S25R probably damaging Het
Blcap T A 2: 157,560,423 probably benign Het
Btbd6 C T 12: 112,976,796 A13V probably benign Het
Ccdc83 A C 7: 90,247,138 N74K probably damaging Het
Cdh9 A G 15: 16,849,079 probably null Het
Chd1 C T 17: 15,770,027 R1614* probably null Het
Col16a1 G T 4: 130,099,050 Q1567H probably damaging Het
Coq6 A T 12: 84,373,789 probably benign Het
Cpd T C 11: 76,846,785 D61G probably benign Het
Csnk1e A G 15: 79,424,895 F277S probably damaging Het
Cyp2d41-ps T A 15: 82,779,586 noncoding transcript Het
Dbt T C 3: 116,533,296 I98T probably damaging Het
Eif3e G A 15: 43,262,690 T287I probably damaging Het
Gm7135 A G 1: 97,353,953 noncoding transcript Het
Gpr176 A T 2: 118,279,610 S389R probably benign Het
Hax1 A G 3: 89,995,690 S257P probably damaging Het
Herc1 CTGAGGACTCTTTG CTG 9: 66,448,348 probably null Het
Ighv1-53 C T 12: 115,158,822 C5Y probably benign Het
Klhl13 T A X: 23,315,175 D2V probably damaging Het
Kynu A T 2: 43,681,410 H446L probably benign Het
Lingo1 A G 9: 56,620,102 F401S probably damaging Het
Lmbrd1 C T 1: 24,692,968 Q89* probably null Het
Mov10 T A 3: 104,797,276 Q773L probably benign Het
Olfr1356 T A 10: 78,847,905 R3S probably benign Het
Olfr596 G T 7: 103,310,661 *313Y probably null Het
Pde6c G A 19: 38,162,845 G608S probably damaging Het
Peli3 T C 19: 4,932,398 H413R probably damaging Het
Pkdrej C T 15: 85,818,144 R1197Q probably damaging Het
Rcan2 T A 17: 43,953,479 V10D probably benign Het
Slc10a5 A G 3: 10,335,460 S47P probably damaging Het
Sprr3 A G 3: 92,456,907 V210A possibly damaging Het
Tcerg1l G T 7: 138,397,632 Q8K unknown Het
Ubr1 T C 2: 120,934,386 D529G possibly damaging Het
Vmn1r180 A T 7: 23,952,873 I154F probably damaging Het
Vmn1r237 A G 17: 21,314,663 H216R possibly damaging Het
Whrn C T 4: 63,432,973 probably benign Het
Zfr T G 15: 12,149,659 D388E probably damaging Het
Zic5 T C 14: 122,464,663 I219V probably benign Het
Zmat5 A G 11: 4,728,614 N53D probably benign Het
Other mutations in Ubfd1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01011:Ubfd1 APN 7 122078472 missense probably benign 0.04
IGL01677:Ubfd1 APN 7 122071699 splice site probably benign
R0883:Ubfd1 UTSW 7 122067491 unclassified probably benign
R2364:Ubfd1 UTSW 7 122068944 missense probably benign 0.00
R3879:Ubfd1 UTSW 7 122068776 unclassified probably benign
R3880:Ubfd1 UTSW 7 122068776 unclassified probably benign
R3972:Ubfd1 UTSW 7 122067433 missense probably benign
R5120:Ubfd1 UTSW 7 122071750 missense probably damaging 1.00
R5276:Ubfd1 UTSW 7 122068868 missense probably damaging 1.00
R6793:Ubfd1 UTSW 7 122067880 missense probably benign
R7493:Ubfd1 UTSW 7 122067412 missense probably benign 0.10
R7619:Ubfd1 UTSW 7 122067383 missense probably benign 0.00
Predicted Primers PCR Primer
(F):5'- AATTGCCCTGCAGTGTGAAG -3'
(R):5'- ATTGTACATGCCAGACAAGGG -3'

Sequencing Primer
(F):5'- GAAGGGATCCATAGTCTGTTGATAC -3'
(R):5'- GGGTACCGTTGGCAGGC -3'
Posted On2015-06-12