Incidental Mutation 'R3879:Ubfd1'
ID 308683
Institutional Source Beutler Lab
Gene Symbol Ubfd1
Ensembl Gene ENSMUSG00000030870
Gene Name ubiquitin family domain containing 1
Synonyms D7Wsu128e, D7Wsu105e
MMRRC Submission 040793-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.165) question?
Stock # R3879 (G1)
Quality Score 225
Status Validated
Chromosome 7
Chromosomal Location 121666398-121681417 bp(+) (GRCm39)
Type of Mutation unclassified
DNA Base Change (assembly) T to A at 121667999 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Gene Model predicted gene model for transcript(s): [ENSMUST00000033158] [ENSMUST00000033159]
AlphaFold Q78JW9
Predicted Effect probably benign
Transcript: ENSMUST00000033158
SMART Domains Protein: ENSMUSP00000033158
Gene: ENSMUSG00000030870

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 probably benign
Transcript: ENSMUST00000153640
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.4%
  • 20x: 95.5%
Validation Efficiency 95% (38/40)
Allele List at MGI
Other mutations in this stock
Total: 33 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4933434E20Rik T C 3: 89,970,561 (GRCm39) probably benign Het
Aass G A 6: 23,122,520 (GRCm39) H68Y probably damaging Het
Abcc8 T A 7: 45,754,051 (GRCm39) K1588N possibly damaging Het
Calcoco1 T C 15: 102,615,823 (GRCm39) D601G probably damaging Het
Ccdc175 C A 12: 72,182,792 (GRCm39) R409I probably damaging Het
Ccnl1 A G 3: 65,856,179 (GRCm39) V242A possibly damaging Het
Clasp2 T C 9: 113,719,029 (GRCm39) F705L probably damaging Het
Cyp46a1 A G 12: 108,324,389 (GRCm39) T389A probably benign Het
Eps8 A G 6: 137,504,360 (GRCm39) probably benign Het
Gm9894 T C 13: 67,912,916 (GRCm39) noncoding transcript Het
Kcnd3 C T 3: 105,566,082 (GRCm39) A421V probably damaging Het
Nup153 A T 13: 46,837,436 (GRCm39) V1262E probably damaging Het
Nup210l A G 3: 90,092,780 (GRCm39) T1245A probably damaging Het
Or10ad1b C T 15: 98,125,085 (GRCm39) C147Y probably damaging Het
Or5b121 A G 19: 13,507,613 (GRCm39) Y236C probably damaging Het
Pcif1 G A 2: 164,727,878 (GRCm39) G189D probably benign Het
Pdzd2 A G 15: 12,375,594 (GRCm39) S1514P probably damaging Het
Pigu A T 2: 155,141,063 (GRCm39) F276I probably damaging Het
Pramex1 T C X: 134,514,194 (GRCm39) H365R probably benign Het
Psmd9 C T 5: 123,372,653 (GRCm39) probably benign Het
Rasgrp2 A T 19: 6,463,920 (GRCm39) Q539H probably benign Het
Rgs22 T G 15: 36,107,051 (GRCm39) I112L possibly damaging Het
Slc26a9 A T 1: 131,696,969 (GRCm39) T786S probably benign Het
Sned1 A G 1: 93,192,752 (GRCm39) probably benign Het
St7l G A 3: 104,833,763 (GRCm39) V475I probably damaging Het
Tnfrsf11a C T 1: 105,737,085 (GRCm39) T64I probably damaging Het
Top3a A G 11: 60,634,765 (GRCm39) V713A possibly damaging Het
Trim16 G A 11: 62,731,433 (GRCm39) G348S probably damaging Het
Tshz3 C T 7: 36,470,962 (GRCm39) Q984* probably null Het
Ttn A G 2: 76,566,406 (GRCm39) probably null Het
Zfp37 A T 4: 62,109,572 (GRCm39) Y497* probably null Het
Zfp462 G A 4: 55,060,095 (GRCm39) C1207Y probably damaging Het
Zfp607b A G 7: 27,403,476 (GRCm39) E644G possibly damaging 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
R3880:Ubfd1 UTSW 7 121,667,999 (GRCm39) unclassified probably benign
R3972:Ubfd1 UTSW 7 121,666,656 (GRCm39) missense probably benign
R4241:Ubfd1 UTSW 7 121,670,977 (GRCm39) missense possibly damaging 0.56
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'- ATCTCCTACACTTGGGAATTTTCAG -3'
(R):5'- AGATGCCGAATGGTCTCACC -3'

Sequencing Primer
(F):5'- TCCTGGTGTTCTGAACTC -3'
(R):5'- ATGCCGAATGGTCTCACCTTCTG -3'
Posted On 2015-04-17