Incidental Mutation 'R6210:Upk3bl'
ID503396
Institutional Source Beutler Lab
Gene Symbol Upk3bl
Ensembl Gene ENSMUSG00000006143
Gene Nameuroplakin 3B-like
Synonyms
MMRRC Submission 044344-MU
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.050) question?
Stock #R6210 (G1)
Quality Score225.009
Status Validated
Chromosome5
Chromosomal Location136054492-136064326 bp(+) (GRCm38)
Type of Mutationnonsense
DNA Base Change (assembly) C to T at 136059820 bp
ZygosityHeterozygous
Amino Acid Change Glutamine to Stop codon at position 103 (Q103*)
Gene Model predicted gene model for transcript(s): [ENSMUST00000006303] [ENSMUST00000111137] [ENSMUST00000122979]
Predicted Effect probably null
Transcript: ENSMUST00000006303
AA Change: Q58*
SMART Domains Protein: ENSMUSP00000006303
Gene: ENSMUSG00000006143
AA Change: Q58*

DomainStartEndE-ValueType
signal peptide 1 26 N/A INTRINSIC
SCOP:d1apxa_ 42 116 1e-4 SMART
transmembrane domain 193 215 N/A INTRINSIC
Predicted Effect probably null
Transcript: ENSMUST00000111137
AA Change: Q122*
SMART Domains Protein: ENSMUSP00000106767
Gene: ENSMUSG00000006143
AA Change: Q122*

DomainStartEndE-ValueType
low complexity region 3 14 N/A INTRINSIC
SCOP:d1apxa_ 106 180 2e-4 SMART
transmembrane domain 257 279 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000122979
SMART Domains Protein: ENSMUSP00000122206
Gene: ENSMUSG00000006143

DomainStartEndE-ValueType
transmembrane domain 95 117 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000139549
Predicted Effect noncoding transcript
Transcript: ENSMUST00000139999
Predicted Effect probably null
Transcript: ENSMUST00000156530
AA Change: Q103*
SMART Domains Protein: ENSMUSP00000123311
Gene: ENSMUSG00000006143
AA Change: Q103*

DomainStartEndE-ValueType
SCOP:d1apxa_ 73 147 2e-4 SMART
transmembrane domain 224 246 N/A INTRINSIC
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.5%
  • 20x: 98.4%
Validation Efficiency 95% (52/55)
Allele List at MGI
Other mutations in this stock
Total: 52 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abhd3 T A 18: 10,706,032 I94F probably damaging Het
Bbox1 A T 2: 110,270,077 D258E probably benign Het
Catsperb A G 12: 101,412,568 probably null Het
Ccdc127 T C 13: 74,356,921 V196A probably benign Het
Cd101 A T 3: 101,018,643 D253E probably damaging Het
Ceacam15 T C 7: 16,673,289 Y101C probably damaging Het
Cep135 C T 5: 76,624,723 L652F probably benign Het
Col5a1 G T 2: 28,032,621 V234L probably benign Het
Cxcr6 T C 9: 123,810,008 S25P possibly damaging Het
D17Wsu92e A T 17: 27,767,986 D255E probably benign Het
Dctn4 C T 18: 60,546,793 Q258* probably null Het
Fmnl2 A T 2: 53,130,445 N1067I possibly damaging Het
Frrs1 A T 3: 116,878,431 K59N probably benign Het
Gpr157 T C 4: 150,101,598 Y206H probably damaging Het
Hephl1 A G 9: 15,090,564 Y161H possibly damaging Het
Hinfp C T 9: 44,298,872 probably null Het
Igf2r A T 17: 12,714,951 N805K probably damaging Het
Itga3 T C 11: 95,068,891 probably benign Het
Itga6 A G 2: 71,834,007 probably null Het
Kcnip1 G A 11: 33,645,600 T30I possibly damaging Het
Lig4 T C 8: 9,971,585 T732A probably benign Het
Lmod3 T A 6: 97,247,301 T520S probably damaging Het
Megf8 G A 7: 25,343,720 V1356I possibly damaging Het
Mical3 C T 6: 121,040,517 probably null Het
Msi1 T C 5: 115,435,476 I8T probably damaging Het
Mug4-ps A T 6: 121,950,317 noncoding transcript Het
Myo1f T A 17: 33,601,070 I783N probably damaging Het
Nr6a1 A C 2: 38,729,497 I462S probably damaging Het
Olfr1056 A G 2: 86,356,358 V8A probably benign Het
Olfr330 C T 11: 58,529,264 A241T probably damaging Het
Pah C A 10: 87,583,561 Q449K probably benign Het
Pced1a A G 2: 130,421,919 V271A probably damaging Het
Pdzrn4 A T 15: 92,757,681 E485V probably damaging Het
Psg21 A G 7: 18,652,345 Y239H probably damaging Het
Ptprt T C 2: 162,268,029 Y180C probably damaging Het
Raet1d T A 10: 22,370,950 I59N probably damaging Het
Rfx1 T C 8: 84,093,018 L653P probably damaging Het
Rnase2a A G 14: 51,255,674 V78A possibly damaging Het
Rsf1 ATGGCG ATGGCGACGGTGGCG 7: 97,579,904 probably benign Homo
Serbp1 T C 6: 67,272,867 probably benign Het
Tlr1 A T 5: 64,925,286 H649Q probably damaging Het
Tns2 C T 15: 102,108,934 R281C probably damaging Het
Trpc6 T A 9: 8,656,730 D719E probably benign Het
Ttc21b A T 2: 66,236,354 S318R probably benign Het
Ttn G A 2: 76,749,329 T23740M probably damaging Het
Uhmk1 T C 1: 170,212,237 Q187R probably damaging Het
Ung C T 5: 114,131,377 A50V probably benign Het
Usp17le C A 7: 104,769,143 C264F probably damaging Het
Vmn2r105 T A 17: 20,228,496 N140Y probably damaging Het
Vmn2r84 C T 10: 130,386,245 C702Y probably damaging Het
Zfp709 TCGACG TCG 8: 71,890,708 probably benign Het
Zfp748 G A 13: 67,540,804 P779L possibly damaging Het
Other mutations in Upk3bl
AlleleSourceChrCoordTypePredicted EffectPPH Score
R0085:Upk3bl UTSW 5 136060115 missense probably benign 0.00
R0539:Upk3bl UTSW 5 136063986 intron probably benign
R0554:Upk3bl UTSW 5 136059794 missense probably damaging 1.00
R0559:Upk3bl UTSW 5 136057476 missense probably benign 0.06
R0835:Upk3bl UTSW 5 136057331 missense probably benign 0.00
R1881:Upk3bl UTSW 5 136057303 missense probably benign 0.00
R4729:Upk3bl UTSW 5 136057393 missense probably benign 0.03
R4947:Upk3bl UTSW 5 136057245 unclassified probably benign
R5120:Upk3bl UTSW 5 136064191 utr 3 prime probably benign
R5243:Upk3bl UTSW 5 136060123 missense possibly damaging 0.73
R5523:Upk3bl UTSW 5 136060100 missense probably damaging 0.98
R5824:Upk3bl UTSW 5 136060279 nonsense probably null
R6229:Upk3bl UTSW 5 136064061 splice site probably null
Predicted Primers PCR Primer
(F):5'- ACAATGTGATTCCTTAATTCCCACC -3'
(R):5'- ACGTCCTAGTAGGCTTAACCG -3'

Sequencing Primer
(F):5'- ATCTGCGGTTTTGGAGACAGAGTC -3'
(R):5'- GGCTTAACCGCCTTTCCCAATC -3'
Posted On2018-02-27