Incidental Mutation 'R4241:Ubfd1'
ID 320217
Institutional Source Beutler Lab
Gene Symbol Ubfd1
Ensembl Gene ENSMUSG00000030870
Gene Name ubiquitin family domain containing 1
Synonyms D7Wsu128e, D7Wsu105e
MMRRC Submission 041058-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.154) question?
Stock # R4241 (G1)
Quality Score 225
Status Validated
Chromosome 7
Chromosomal Location 121666398-121681417 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 121670977 bp (GRCm39)
Zygosity Heterozygous
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]
AlphaFold Q78JW9
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
Agl A T 3: 116,548,497 (GRCm39) probably benign Het
Ap5b1 C T 19: 5,618,825 (GRCm39) L82F possibly damaging Het
Arfgef3 A G 10: 18,500,912 (GRCm39) S1113P probably damaging Het
Atoh1 A C 6: 64,706,758 (GRCm39) N151T probably damaging Het
Bcas3 T A 11: 85,361,652 (GRCm39) S25R probably damaging Het
Blcap T A 2: 157,402,343 (GRCm39) probably benign Het
Btbd6 C T 12: 112,940,416 (GRCm39) A13V probably benign Het
Ccdc83 A C 7: 89,896,346 (GRCm39) N74K probably damaging Het
Cdh9 A G 15: 16,849,165 (GRCm39) probably null Het
Chd1 C T 17: 15,990,289 (GRCm39) R1614* probably null Het
Col16a1 G T 4: 129,992,843 (GRCm39) Q1567H probably damaging Het
Coq6 A T 12: 84,420,563 (GRCm39) probably benign Het
Cpd T C 11: 76,737,611 (GRCm39) D61G probably benign Het
Csnk1e A G 15: 79,309,095 (GRCm39) F277S probably damaging Het
Cyp2d41-ps T A 15: 82,663,787 (GRCm39) noncoding transcript Het
Dbt T C 3: 116,326,945 (GRCm39) I98T probably damaging Het
Eif3e G A 15: 43,126,086 (GRCm39) T287I probably damaging Het
Fcgbpl1 A G 7: 27,853,760 (GRCm39) S1575G probably damaging Het
Gm7135 A G 1: 97,281,678 (GRCm39) noncoding transcript Het
Gpr176 A T 2: 118,110,091 (GRCm39) S389R probably benign Het
Hax1 A G 3: 89,902,997 (GRCm39) S257P probably damaging Het
Herc1 CTGAGGACTCTTTG CTG 9: 66,355,630 (GRCm39) probably null Het
Ighv1-53 C T 12: 115,122,442 (GRCm39) C5Y probably benign Het
Klhl13 T A X: 23,181,414 (GRCm39) D2V probably damaging Het
Kynu A T 2: 43,571,422 (GRCm39) H446L probably benign Het
Lingo1 A G 9: 56,527,386 (GRCm39) F401S probably damaging Het
Lmbrd1 C T 1: 24,732,049 (GRCm39) Q89* probably null Het
Mov10 T A 3: 104,704,592 (GRCm39) Q773L probably benign Het
Or52e19 G T 7: 102,959,868 (GRCm39) *313Y probably null Het
Or7c70 T A 10: 78,683,739 (GRCm39) R3S probably benign Het
Pde6c G A 19: 38,151,293 (GRCm39) G608S probably damaging Het
Peli3 T C 19: 4,982,426 (GRCm39) H413R probably damaging Het
Pkdrej C T 15: 85,702,345 (GRCm39) R1197Q probably damaging Het
Rcan2 T A 17: 44,264,370 (GRCm39) V10D probably benign Het
Slc10a5 A G 3: 10,400,520 (GRCm39) S47P probably damaging Het
Sprr3 A G 3: 92,364,214 (GRCm39) V210A possibly damaging Het
Tcerg1l G T 7: 137,999,361 (GRCm39) Q8K unknown Het
Ubr1 T C 2: 120,764,867 (GRCm39) D529G possibly damaging Het
Vmn1r180 A T 7: 23,652,298 (GRCm39) I154F probably damaging Het
Vmn1r237 A G 17: 21,534,925 (GRCm39) H216R possibly damaging Het
Whrn C T 4: 63,351,210 (GRCm39) probably benign Het
Zfr T G 15: 12,149,745 (GRCm39) D388E probably damaging Het
Zic5 T C 14: 122,702,075 (GRCm39) I219V probably benign Het
Zmat5 A G 11: 4,678,614 (GRCm39) N53D probably benign Het
Other mutations in Ubfd1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01011:Ubfd1 APN 7 121,677,695 (GRCm39) missense probably benign 0.04
IGL01677:Ubfd1 APN 7 121,670,922 (GRCm39) splice site probably benign
R0883:Ubfd1 UTSW 7 121,666,714 (GRCm39) unclassified probably benign
R2364:Ubfd1 UTSW 7 121,668,167 (GRCm39) missense probably benign 0.00
R3879:Ubfd1 UTSW 7 121,667,999 (GRCm39) unclassified probably benign
R3880:Ubfd1 UTSW 7 121,667,999 (GRCm39) unclassified probably benign
R3972:Ubfd1 UTSW 7 121,666,656 (GRCm39) missense probably benign
R5120:Ubfd1 UTSW 7 121,670,973 (GRCm39) missense probably damaging 1.00
R5276:Ubfd1 UTSW 7 121,668,091 (GRCm39) missense probably damaging 1.00
R6793:Ubfd1 UTSW 7 121,667,103 (GRCm39) missense probably benign
R7493:Ubfd1 UTSW 7 121,666,635 (GRCm39) missense probably benign 0.10
R7619:Ubfd1 UTSW 7 121,666,606 (GRCm39) 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 On 2015-06-12