Incidental Mutation 'R1753:Ubp1'
ID 193759
Institutional Source Beutler Lab
Gene Symbol Ubp1
Ensembl Gene ENSMUSG00000009741
Gene Name upstream binding protein 1
Synonyms LBP-1b, NF2d9, LBP-1a
MMRRC Submission 039785-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R1753 (G1)
Quality Score 225
Status Not validated
Chromosome 9
Chromosomal Location 113760002-113806270 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 113785037 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Leucine at position 117 (I117L)
Ref Sequence ENSEMBL: ENSMUSP00000150023 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000009885] [ENSMUST00000084885] [ENSMUST00000116492] [ENSMUST00000214095] [ENSMUST00000216558]
AlphaFold Q811S7
Predicted Effect possibly damaging
Transcript: ENSMUST00000009885
AA Change: I117L

PolyPhen 2 Score 0.741 (Sensitivity: 0.85; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000009885
Gene: ENSMUSG00000009741
AA Change: I117L

DomainStartEndE-ValueType
Pfam:CP2 37 259 1.6e-76 PFAM
SCOP:d1kw4a_ 333 381 5e-3 SMART
low complexity region 409 427 N/A INTRINSIC
Predicted Effect possibly damaging
Transcript: ENSMUST00000084885
AA Change: I117L

PolyPhen 2 Score 0.741 (Sensitivity: 0.85; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000081946
Gene: ENSMUSG00000009741
AA Change: I117L

DomainStartEndE-ValueType
Pfam:CP2 42 257 3e-62 PFAM
SCOP:d1kw4a_ 369 417 6e-3 SMART
low complexity region 445 463 N/A INTRINSIC
Predicted Effect possibly damaging
Transcript: ENSMUST00000116492
AA Change: I117L

PolyPhen 2 Score 0.741 (Sensitivity: 0.85; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000112192
Gene: ENSMUSG00000009741
AA Change: I117L

DomainStartEndE-ValueType
Pfam:CP2 37 259 1.6e-76 PFAM
SCOP:d1kw4a_ 333 381 5e-3 SMART
low complexity region 409 427 N/A INTRINSIC
Predicted Effect possibly damaging
Transcript: ENSMUST00000214095
AA Change: I117L

PolyPhen 2 Score 0.741 (Sensitivity: 0.85; Specificity: 0.92)
Predicted Effect possibly damaging
Transcript: ENSMUST00000216558
AA Change: I117L

PolyPhen 2 Score 0.741 (Sensitivity: 0.85; Specificity: 0.92)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000216891
Coding Region Coverage
  • 1x: 97.5%
  • 3x: 96.9%
  • 10x: 95.3%
  • 20x: 92.6%
Validation Efficiency
MGI Phenotype PHENOTYPE: Mice homozygous for disruptions in this gene die during gestation. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 102 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca8b A T 11: 109,864,542 (GRCm39) F409I probably benign Het
Adamts19 A C 18: 59,140,444 (GRCm39) I848L possibly damaging Het
Adamts5 T C 16: 85,696,240 (GRCm39) S306G probably damaging Het
Adamts8 T G 9: 30,865,910 (GRCm39) I486S probably benign Het
Adgrg5 T C 8: 95,668,680 (GRCm39) F499L possibly damaging Het
Akr1c21 T A 13: 4,627,134 (GRCm39) C145* probably null Het
Anp32b T G 4: 46,460,241 (GRCm39) probably null Het
Arhgap31 A G 16: 38,421,974 (GRCm39) V1364A possibly damaging Het
C2cd6 T C 1: 59,133,992 (GRCm39) R10G possibly damaging Het
Cacna2d1 A G 5: 16,507,352 (GRCm39) E367G possibly damaging Het
Ccdc81 C T 7: 89,515,769 (GRCm39) E637K probably benign Het
Cd2 A T 3: 101,194,815 (GRCm39) M91K possibly damaging Het
Cdc16 C A 8: 13,814,688 (GRCm39) Y157* probably null Het
Celsr3 G T 9: 108,709,056 (GRCm39) V1301F probably damaging Het
Cep164 C T 9: 45,704,235 (GRCm39) G961S probably damaging Het
Cep290 T C 10: 100,349,843 (GRCm39) V630A probably benign Het
Chd5 C T 4: 152,463,272 (GRCm39) S1451F probably damaging Het
Cldn23 A C 8: 36,293,140 (GRCm39) L116R possibly damaging Het
Cngb1 A T 8: 96,024,401 (GRCm39) probably benign Het
Cpb1 G T 3: 20,320,405 (GRCm39) N151K possibly damaging Het
Cpn2 A G 16: 30,078,918 (GRCm39) F261S probably damaging Het
Crlf3 A C 11: 79,948,698 (GRCm39) V249G probably damaging Het
Csmd1 A T 8: 16,207,134 (GRCm39) Y1298* probably null Het
Cstf2t C A 19: 31,061,085 (GRCm39) P207Q possibly damaging Het
Cym A C 3: 107,120,741 (GRCm39) L288R possibly damaging Het
Cyp2j12 C T 4: 96,009,669 (GRCm39) probably null Het
Dlx6 C T 6: 6,863,665 (GRCm39) Q96* probably null Het
Dnah7b T C 1: 46,361,495 (GRCm39) F3465S probably damaging Het
Dnmt3a A T 12: 3,923,342 (GRCm39) M181L possibly damaging Het
Duox1 T A 2: 122,163,910 (GRCm39) M859K probably damaging Het
Eif2b4 A T 5: 31,350,284 (GRCm39) S13T probably benign Het
Ercc6 T C 14: 32,298,956 (GRCm39) V1448A probably benign Het
Esp24 A G 17: 39,350,893 (GRCm39) E31G possibly damaging Het
F2rl2 T A 13: 95,837,969 (GRCm39) M338K probably benign Het
Fbxl9 A T 8: 106,039,824 (GRCm39) V517E probably damaging Het
Fgfbp1 A C 5: 44,137,265 (GRCm39) L9R possibly damaging Het
Gal3st2b A T 1: 93,868,338 (GRCm39) N188Y probably damaging Het
Gpr179 G C 11: 97,237,404 (GRCm39) C372W probably damaging Het
Grn T G 11: 102,324,093 (GRCm39) C61G probably damaging Het
Herc1 T G 9: 66,376,292 (GRCm39) C3371G probably damaging Het
Herc1 T C 9: 66,409,366 (GRCm39) probably null Het
Hmcn1 C T 1: 150,462,219 (GRCm39) G5153D possibly damaging Het
Ifi35 A T 11: 101,347,461 (GRCm39) R31W probably damaging Het
Ifit1bl1 T A 19: 34,571,260 (GRCm39) H399L probably benign Het
Irx3 G A 8: 92,527,362 (GRCm39) P114L probably damaging Het
Kat6a T A 8: 23,425,813 (GRCm39) D1119E probably benign Het
Kmt2d G T 15: 98,741,363 (GRCm39) probably benign Het
Kng1 A T 16: 22,897,869 (GRCm39) H423L possibly damaging Het
Lrp2 T A 2: 69,326,833 (GRCm39) Q1746L possibly damaging Het
Lrrc63 A T 14: 75,323,784 (GRCm39) probably null Het
Mad2l1 T A 6: 66,516,797 (GRCm39) V163E possibly damaging Het
Map3k19 A G 1: 127,750,417 (GRCm39) M978T probably benign Het
Mon1a A C 9: 107,778,562 (GRCm39) N262T probably damaging Het
Mpo A G 11: 87,686,707 (GRCm39) N85D probably benign Het
Mpp4 T C 1: 59,183,969 (GRCm39) D244G probably null Het
Mstn A G 1: 53,105,717 (GRCm39) Y353C probably damaging Het
Mx1 T A 16: 97,255,358 (GRCm39) N232Y probably damaging Het
Mycs T C X: 5,380,157 (GRCm39) R308G probably benign Het
Myh11 A T 16: 14,095,734 (GRCm39) D9E probably benign Het
Nfe2l3 A T 6: 51,410,392 (GRCm39) Q169L probably null Het
Nr5a1 G T 2: 38,598,431 (GRCm39) T122N possibly damaging Het
Nras A G 3: 102,966,295 (GRCm39) T20A probably damaging Het
Obp2b T A 2: 25,628,652 (GRCm39) probably null Het
Or1l4 A G 2: 37,091,439 (GRCm39) Y62C probably damaging Het
Or51g2 T C 7: 102,622,263 (GRCm39) N312S probably benign Het
Or5aq6 T C 2: 86,923,571 (GRCm39) T57A probably damaging Het
Or5w18 T A 2: 87,633,106 (GRCm39) F124L probably benign Het
Or9s14 G A 1: 92,536,122 (GRCm39) V188M probably benign Het
Pcdh17 A T 14: 84,715,094 (GRCm39) T920S probably benign Het
Pcdh9 T C 14: 94,124,661 (GRCm39) D503G probably benign Het
Pcdhb12 C T 18: 37,569,724 (GRCm39) T290I probably damaging Het
Pde6b C A 5: 108,536,557 (GRCm39) C84* probably null Het
Pex1 A T 5: 3,680,044 (GRCm39) N914I probably damaging Het
Pign A G 1: 105,517,042 (GRCm39) V528A possibly damaging Het
Pkhd1 T G 1: 20,604,129 (GRCm39) D1187A possibly damaging Het
Ppip5k1 T C 2: 121,173,112 (GRCm39) K489E probably damaging Het
Prob1 T C 18: 35,786,305 (GRCm39) T650A possibly damaging Het
Radil T C 5: 142,481,091 (GRCm39) Y572C probably damaging Het
Rapgef2 A G 3: 78,996,098 (GRCm39) I555T possibly damaging Het
Rgs5 G A 1: 169,510,386 (GRCm39) probably null Het
Rnaset2b G A 17: 7,248,506 (GRCm39) probably null Het
S1pr1 A G 3: 115,505,587 (GRCm39) S336P probably benign Het
Slc24a5 A G 2: 124,925,115 (GRCm39) E252G possibly damaging Het
Slc34a2 A T 5: 53,218,733 (GRCm39) I184F probably benign Het
Slc35a3 A G 3: 116,471,597 (GRCm39) V224A possibly damaging Het
Slc39a9 A G 12: 80,723,976 (GRCm39) H211R probably damaging Het
Slu7 A G 11: 43,330,095 (GRCm39) N174S probably benign Het
Smarcd3 A T 5: 24,800,820 (GRCm39) Y131* probably null Het
Syne1 A G 10: 5,317,621 (GRCm39) M491T probably benign Het
Tars1 G A 15: 11,394,329 (GRCm39) Q103* probably null Het
Tmem132d C A 5: 127,866,919 (GRCm39) E660D probably benign Het
Ttn T C 2: 76,575,387 (GRCm39) T16842A probably damaging Het
Ttn T C 2: 76,643,316 (GRCm39) E13201G probably damaging Het
Ttn T A 2: 76,582,605 (GRCm39) M22763L probably benign Het
Usp24 T A 4: 106,234,756 (GRCm39) H954Q probably benign Het
Vmn1r174 G A 7: 23,453,622 (GRCm39) R96H probably benign Het
Vmn2r63 G A 7: 42,577,669 (GRCm39) Q290* probably null Het
Vnn3 T C 10: 23,741,718 (GRCm39) I341T probably benign Het
Wbp2nl A G 15: 82,189,945 (GRCm39) T46A probably damaging Het
Wdr48 G T 9: 119,753,313 (GRCm39) E625* probably null Het
Wdr6 C T 9: 108,452,363 (GRCm39) V507I probably damaging Het
Zp2 A T 7: 119,737,328 (GRCm39) W287R probably benign Het
Other mutations in Ubp1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01941:Ubp1 APN 9 113,785,826 (GRCm39) missense probably damaging 1.00
IGL01951:Ubp1 APN 9 113,780,686 (GRCm39) nonsense probably null
R0097:Ubp1 UTSW 9 113,802,575 (GRCm39) splice site probably benign
R0097:Ubp1 UTSW 9 113,802,575 (GRCm39) splice site probably benign
R0241:Ubp1 UTSW 9 113,795,655 (GRCm39) critical splice donor site probably null
R0669:Ubp1 UTSW 9 113,793,736 (GRCm39) splice site probably benign
R0709:Ubp1 UTSW 9 113,773,999 (GRCm39) missense probably damaging 1.00
R1416:Ubp1 UTSW 9 113,799,239 (GRCm39) missense probably benign 0.02
R1466:Ubp1 UTSW 9 113,773,903 (GRCm39) splice site probably benign
R1780:Ubp1 UTSW 9 113,793,647 (GRCm39) missense possibly damaging 0.84
R2235:Ubp1 UTSW 9 113,793,712 (GRCm39) missense probably damaging 1.00
R3418:Ubp1 UTSW 9 113,780,754 (GRCm39) critical splice donor site probably null
R3978:Ubp1 UTSW 9 113,785,773 (GRCm39) critical splice acceptor site probably null
R4024:Ubp1 UTSW 9 113,773,951 (GRCm39) missense probably benign 0.03
R4469:Ubp1 UTSW 9 113,787,775 (GRCm39) missense probably benign 0.11
R4797:Ubp1 UTSW 9 113,785,070 (GRCm39) missense probably damaging 1.00
R4984:Ubp1 UTSW 9 113,788,460 (GRCm39) missense probably damaging 0.97
R5914:Ubp1 UTSW 9 113,785,807 (GRCm39) missense probably benign 0.00
R6971:Ubp1 UTSW 9 113,801,831 (GRCm39) missense probably damaging 0.97
R7718:Ubp1 UTSW 9 113,802,597 (GRCm39) missense possibly damaging 0.69
R8129:Ubp1 UTSW 9 113,804,417 (GRCm39) missense possibly damaging 0.92
R8772:Ubp1 UTSW 9 113,801,897 (GRCm39) missense probably benign 0.23
R9106:Ubp1 UTSW 9 113,799,319 (GRCm39) missense probably benign
Predicted Primers PCR Primer
(F):5'- gccctgctAGAATGGTCGTCTTTGT -3'
(R):5'- ACAGCTACACAGCACCTTCATTTCCA -3'

Sequencing Primer
(F):5'- gtcctcttgccccaacc -3'
(R):5'- CATTTCCACGGCCTGTTG -3'
Posted On 2014-05-23