Incidental Mutation 'R0085:Upk3bl'
ID19849
Institutional Source Beutler Lab
Gene Symbol Upk3bl
Ensembl Gene ENSMUSG00000006143
Gene Nameuroplakin 3B-like
Synonyms
MMRRC Submission 038372-MU
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.037) question?
Stock #R0085 (G1)
Quality Score225
Status Validated
Chromosome5
Chromosomal Location136054492-136064326 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 136060115 bp
ZygosityHeterozygous
Amino Acid Change Asparagine to Aspartic acid at position 161 (N161D)
Ref Sequence ENSEMBL: ENSMUSP00000106767 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000006303] [ENSMUST00000111137] [ENSMUST00000122979]
Predicted Effect probably benign
Transcript: ENSMUST00000006303
AA Change: N97D

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000006303
Gene: ENSMUSG00000006143
AA Change: N97D

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 benign
Transcript: ENSMUST00000111137
AA Change: N161D

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000106767
Gene: ENSMUSG00000006143
AA Change: N161D

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 unknown
Transcript: ENSMUST00000156530
AA Change: N142D
SMART Domains Protein: ENSMUSP00000123311
Gene: ENSMUSG00000006143
AA Change: N142D

DomainStartEndE-ValueType
SCOP:d1apxa_ 73 147 2e-4 SMART
transmembrane domain 224 246 N/A INTRINSIC
Meta Mutation Damage Score 0.082 question?
Coding Region Coverage
  • 1x: 99.0%
  • 3x: 98.1%
  • 10x: 95.6%
  • 20x: 90.4%
Validation Efficiency 95% (71/75)
Allele List at MGI
Other mutations in this stock
Total: 50 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2810403A07Rik T A 3: 88,711,739 S583R probably damaging Het
Acad12 A G 5: 121,604,294 I417T possibly damaging Het
Adcy9 T C 16: 4,288,224 T1009A probably benign Het
Ass1 A T 2: 31,514,819 N371Y probably damaging Het
Baat T C 4: 49,490,425 probably benign Het
Bpi T A 2: 158,273,152 L311* probably null Het
Brd2 A C 17: 34,113,259 F294L probably damaging Het
Carmil1 T A 13: 24,025,867 E804D probably benign Het
Cd209g A T 8: 4,134,785 probably benign Het
Cfi A G 3: 129,874,986 I554V probably benign Het
Clvs2 G C 10: 33,622,546 S129R possibly damaging Het
Dst T C 1: 34,229,187 S2897P probably damaging Het
Efcab7 T C 4: 99,904,680 probably benign Het
Fbxo2 T C 4: 148,164,910 probably null Het
Fgfr2 C A 7: 130,196,263 R400L probably damaging Het
Hsd17b14 T C 7: 45,556,410 probably benign Het
Il23r T C 6: 67,486,222 N96D probably damaging Het
Ints13 T A 6: 146,574,787 probably benign Het
Lig1 A G 7: 13,307,570 I776V possibly damaging Het
Madd T C 2: 91,162,738 I997V probably benign Het
Mgat4b C T 11: 50,230,999 H116Y possibly damaging Het
Myh11 C A 16: 14,224,019 Q720H probably damaging Het
Myo5b A C 18: 74,701,680 D937A probably benign Het
Nox3 T C 17: 3,635,281 N584S probably benign Het
Ogfr A G 2: 180,591,037 probably null Het
Olfr1341 T C 4: 118,709,881 V158A probably benign Het
Olfr741 T A 14: 50,486,334 M292K probably benign Het
Olfr904 T C 9: 38,464,662 I207T probably benign Het
Osbpl6 G T 2: 76,593,414 V728F probably benign Het
Picalm T A 7: 90,182,317 S453T probably benign Het
Piezo1 A G 8: 122,501,615 L310P probably damaging Het
Pitrm1 C T 13: 6,549,568 probably benign Het
Pkd1 T C 17: 24,586,223 F3250L probably damaging Het
Plekha4 C T 7: 45,543,949 R376* probably null Het
Pnmal2 A T 7: 16,945,549 S153C unknown Het
Rp1l1 C T 14: 64,022,295 R129W probably damaging Het
Ryr3 A G 2: 112,859,763 V1147A probably damaging Het
Sema3d G A 5: 12,570,986 V520I probably benign Het
Sgsm1 A G 5: 113,279,270 probably benign Het
Slc13a2 A G 11: 78,406,868 V58A probably damaging Het
Slc1a4 A G 11: 20,304,510 probably benign Het
Slc4a10 G A 2: 62,244,346 probably benign Het
Tab1 G T 15: 80,155,893 A305S probably benign Het
Tmem30a T A 9: 79,771,294 T327S probably benign Het
Tpr A C 1: 150,417,413 E863A possibly damaging Het
Ush1c T A 7: 46,225,555 I131F probably damaging Het
Wdfy4 C A 14: 33,078,243 R1975S possibly damaging Het
Zbtb18 C T 1: 177,447,935 A287V probably benign Het
Zfp712 T C 13: 67,041,192 T424A probably benign Het
Zfp791 G T 8: 85,112,233 Y56* probably null Het
Other mutations in Upk3bl
AlleleSourceChrCoordTypePredicted EffectPPH Score
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
R6210:Upk3bl UTSW 5 136059820 nonsense probably null
R6229:Upk3bl UTSW 5 136064061 splice site probably null
Predicted Primers PCR Primer
(F):5'- GTGGTGGCTCACAGTAACGGTAAG -3'
(R):5'- GAGTGGCAATCTAGCTTTTCCAGGG -3'

Sequencing Primer
(F):5'- CAGTAACGGTAAGCTAAGCCTG -3'
(R):5'- ggaggaagggagggagg -3'
Posted On2013-04-11