Incidental Mutation 'R0097:Ubp1'
ID 41159
Institutional Source Beutler Lab
Gene Symbol Ubp1
Ensembl Gene ENSMUSG00000009741
Gene Name upstream binding protein 1
Synonyms LBP-1b, NF2d9, LBP-1a
MMRRC Submission 038383-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R0097 (G1)
Quality Score 178
Status Validated
Chromosome 9
Chromosomal Location 113760002-113806270 bp(+) (GRCm39)
Type of Mutation splice site
DNA Base Change (assembly) T to C at 113802575 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000150023 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000009885] [ENSMUST00000035090] [ENSMUST00000084885] [ENSMUST00000116492] [ENSMUST00000117537] [ENSMUST00000143180] [ENSMUST00000216558] [ENSMUST00000214095]
AlphaFold Q811S7
Predicted Effect probably benign
Transcript: ENSMUST00000009885
SMART Domains Protein: ENSMUSP00000009885
Gene: ENSMUSG00000009741

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 probably benign
Transcript: ENSMUST00000035090
SMART Domains Protein: ENSMUSP00000035090
Gene: ENSMUSG00000032507

DomainStartEndE-ValueType
FBOX 15 55 1.18e-6 SMART
LRR 77 102 1.16e-1 SMART
LRR 103 128 5.21e-4 SMART
LRR 129 154 2.24e-3 SMART
LRR_CC 155 180 5.46e-7 SMART
LRR 181 206 7.05e-1 SMART
LRR 207 232 4.87e-4 SMART
LRR 233 258 1.5e-4 SMART
LRR 259 284 8.81e-2 SMART
LRR 285 310 2.05e-2 SMART
LRR_CC 311 336 6.37e-8 SMART
LRR 365 391 2.44e1 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000084885
SMART Domains Protein: ENSMUSP00000081946
Gene: ENSMUSG00000009741

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 probably benign
Transcript: ENSMUST00000116492
SMART Domains Protein: ENSMUSP00000112192
Gene: ENSMUSG00000009741

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 probably benign
Transcript: ENSMUST00000117537
SMART Domains Protein: ENSMUSP00000114075
Gene: ENSMUSG00000032507

DomainStartEndE-ValueType
FBOX 15 55 1.18e-6 SMART
LRR 77 102 1.16e-1 SMART
LRR 103 128 5.21e-4 SMART
LRR 129 154 2.24e-3 SMART
LRR_CC 155 180 5.46e-7 SMART
LRR 181 206 7.05e-1 SMART
LRR 207 232 4.87e-4 SMART
LRR 233 258 1.5e-4 SMART
LRR 259 284 8.81e-2 SMART
LRR 285 310 2.05e-2 SMART
LRR_CC 311 336 6.37e-8 SMART
LRR 365 391 2.44e1 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000143180
Predicted Effect probably benign
Transcript: ENSMUST00000216558
Predicted Effect probably benign
Transcript: ENSMUST00000214095
Predicted Effect noncoding transcript
Transcript: ENSMUST00000216293
Predicted Effect noncoding transcript
Transcript: ENSMUST00000216891
Predicted Effect noncoding transcript
Transcript: ENSMUST00000214534
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.4%
  • 10x: 96.5%
  • 20x: 93.2%
Validation Efficiency 100% (57/57)
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: 53 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700006A11Rik A T 3: 124,206,129 (GRCm39) I353K probably benign Het
Albfm1 T A 5: 90,732,795 (GRCm39) S535R probably benign Het
Arfgap2 T A 2: 91,105,160 (GRCm39) V422E probably benign Het
Baz1b T C 5: 135,227,113 (GRCm39) S105P probably benign Het
Bbs10 T C 10: 111,134,705 (GRCm39) V41A probably damaging Het
Cacna1s T A 1: 136,028,360 (GRCm39) M899K possibly damaging Het
Ccnd2 G A 6: 127,123,015 (GRCm39) A180V probably benign Het
Ciao3 T C 17: 25,995,976 (GRCm39) S67P possibly damaging Het
Cldnd1 A G 16: 58,550,078 (GRCm39) N87S possibly damaging Het
Cyp2c54 T A 19: 40,036,102 (GRCm39) probably benign Het
Cyp2c54 G T 19: 40,036,103 (GRCm39) probably benign Het
Dab2ip G A 2: 35,608,928 (GRCm39) V629M possibly damaging Het
Ddx41 A T 13: 55,683,691 (GRCm39) probably benign Het
Dmrta1 A T 4: 89,577,109 (GRCm39) R188S probably benign Het
Eml3 T A 19: 8,914,015 (GRCm39) F465L probably benign Het
Gm9938 T A 19: 23,701,828 (GRCm39) probably benign Het
Gpr87 G A 3: 59,086,506 (GRCm39) T333I probably damaging Het
Krt81 C A 15: 101,361,508 (GRCm39) R24L possibly damaging Het
Llgl2 T A 11: 115,735,323 (GRCm39) Y59* probably null Het
Lzic A G 4: 149,572,533 (GRCm39) E41G probably damaging Het
Mprip T A 11: 59,649,317 (GRCm39) L1007Q possibly damaging Het
Mtfr2 T A 10: 20,224,122 (GRCm39) S19T probably damaging Het
Mycbp2 A T 14: 103,393,198 (GRCm39) M3121K probably damaging Het
Myocd T A 11: 65,069,840 (GRCm39) M667L possibly damaging Het
Ncam2 A G 16: 81,314,425 (GRCm39) D467G probably damaging Het
Neb T C 2: 52,094,906 (GRCm39) N4882S probably damaging Het
Neu2 A G 1: 87,525,188 (GRCm39) D391G probably benign Het
Nol4 C A 18: 22,852,198 (GRCm39) A456S probably benign Het
Or5m13 T C 2: 85,749,184 (GRCm39) V305A probably benign Het
Padi6 C T 4: 140,458,268 (GRCm39) V513M probably benign Het
Pign G A 1: 105,515,701 (GRCm39) probably benign Het
Plpp2 T C 10: 79,366,371 (GRCm39) E91G possibly damaging Het
Pnp T A 14: 51,188,873 (GRCm39) V222D probably damaging Het
Pnp2 C T 14: 51,200,958 (GRCm39) R148C probably benign Het
Pramel30 T C 4: 144,057,857 (GRCm39) S155P probably benign Het
Prss38 A G 11: 59,266,434 (GRCm39) L8S possibly damaging Het
Rab5b A T 10: 128,518,809 (GRCm39) F108I probably damaging Het
Rbbp5 T A 1: 132,418,227 (GRCm39) H15Q possibly damaging Het
Rhox4f A C X: 36,789,122 (GRCm39) V15G probably benign Het
Rsl1 A C 13: 67,329,966 (GRCm39) Q138P probably damaging Het
Ryr3 T C 2: 112,630,400 (GRCm39) D2157G probably damaging Het
Secisbp2l T C 2: 125,613,376 (GRCm39) D206G probably damaging Het
Sh3pxd2b T A 11: 32,353,978 (GRCm39) I182N probably damaging Het
Slc3a1 A T 17: 85,340,288 (GRCm39) I237F probably damaging Het
Svs3b T C 2: 164,098,159 (GRCm39) E54G probably damaging Het
T A T 17: 8,658,733 (GRCm39) probably benign Het
Tenm4 A T 7: 96,542,133 (GRCm39) D1882V probably damaging Het
Tgfbr1 T A 4: 47,403,451 (GRCm39) L283* probably null Het
Tppp3 C T 8: 106,194,554 (GRCm39) A149T probably benign Het
Ushbp1 C T 8: 71,843,357 (GRCm39) C314Y probably damaging Het
Vav2 A T 2: 27,189,374 (GRCm39) probably benign Het
Vmn1r228 T C 17: 20,996,625 (GRCm39) M298V probably benign Het
Zmpste24 A T 4: 120,952,740 (GRCm39) 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
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
R1753:Ubp1 UTSW 9 113,785,037 (GRCm39) missense possibly damaging 0.74
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'- CCCTTTGCACACTGTTGGAAGAGC -3'
(R):5'- CTGAGCCCTTGTTTCATTCAAGCAC -3'

Sequencing Primer
(F):5'- GCTATGTTCACTGACAAGCAG -3'
(R):5'- GTTTCATTCAAGCACTACCAGGG -3'
Posted On 2013-05-23