Incidental Mutation 'R0085:Upk3bl'
ID 19849
Institutional Source Beutler Lab
Gene Symbol Upk3bl
Ensembl Gene ENSMUSG00000006143
Gene Name uroplakin 3B-like
Synonyms 2310043J07Rik
MMRRC Submission 038372-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.049) question?
Stock # R0085 (G1)
Quality Score 225
Status Validated
Chromosome 5
Chromosomal Location 136083346-136093180 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 136088969 bp (GRCm39)
Zygosity Heterozygous
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]
AlphaFold no structure available at present
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 0.0711 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
Acad12 A G 5: 121,742,357 (GRCm39) I417T possibly damaging Het
Adcy9 T C 16: 4,106,088 (GRCm39) T1009A probably benign Het
Ass1 A T 2: 31,404,831 (GRCm39) N371Y probably damaging Het
Baat T C 4: 49,490,425 (GRCm39) probably benign Het
Bpi T A 2: 158,115,072 (GRCm39) L311* probably null Het
Brd2 A C 17: 34,332,233 (GRCm39) F294L probably damaging Het
Carmil1 T A 13: 24,209,850 (GRCm39) E804D probably benign Het
Cd209g A T 8: 4,184,785 (GRCm39) probably benign Het
Cfi A G 3: 129,668,635 (GRCm39) I554V probably benign Het
Clvs2 G C 10: 33,498,542 (GRCm39) S129R possibly damaging Het
Dst T C 1: 34,268,268 (GRCm39) S2897P probably damaging Het
Efcab7 T C 4: 99,761,877 (GRCm39) probably benign Het
Fbxo2 T C 4: 148,249,367 (GRCm39) probably null Het
Fgfr2 C A 7: 129,797,993 (GRCm39) R400L probably damaging Het
Hsd17b14 T C 7: 45,205,834 (GRCm39) probably benign Het
Il23r T C 6: 67,463,206 (GRCm39) N96D probably damaging Het
Ints13 T A 6: 146,476,285 (GRCm39) probably benign Het
Khdc4 T A 3: 88,619,046 (GRCm39) S583R probably damaging Het
Lig1 A G 7: 13,041,495 (GRCm39) I776V possibly damaging Het
Madd T C 2: 90,993,083 (GRCm39) I997V probably benign Het
Mgat4b C T 11: 50,121,826 (GRCm39) H116Y possibly damaging Het
Myh11 C A 16: 14,041,883 (GRCm39) Q720H probably damaging Het
Myo5b A C 18: 74,834,751 (GRCm39) D937A probably benign Het
Nox3 T C 17: 3,685,556 (GRCm39) N584S probably benign Het
Ogfr A G 2: 180,232,830 (GRCm39) probably null Het
Or11g25 T A 14: 50,723,791 (GRCm39) M292K probably benign Het
Or13p3 T C 4: 118,567,078 (GRCm39) V158A probably benign Het
Or8b1b T C 9: 38,375,958 (GRCm39) I207T probably benign Het
Osbpl6 G T 2: 76,423,758 (GRCm39) V728F probably benign Het
Picalm T A 7: 89,831,525 (GRCm39) S453T probably benign Het
Piezo1 A G 8: 123,228,354 (GRCm39) L310P probably damaging Het
Pitrm1 C T 13: 6,599,604 (GRCm39) probably benign Het
Pkd1 T C 17: 24,805,197 (GRCm39) F3250L probably damaging Het
Plekha4 C T 7: 45,193,373 (GRCm39) R376* probably null Het
Pnma8b A T 7: 16,679,474 (GRCm39) S153C unknown Het
Rp1l1 C T 14: 64,259,744 (GRCm39) R129W probably damaging Het
Ryr3 A G 2: 112,690,108 (GRCm39) V1147A probably damaging Het
Sema3d G A 5: 12,620,953 (GRCm39) V520I probably benign Het
Sgsm1 A G 5: 113,427,136 (GRCm39) probably benign Het
Slc13a2 A G 11: 78,297,694 (GRCm39) V58A probably damaging Het
Slc1a4 A G 11: 20,254,510 (GRCm39) probably benign Het
Slc4a10 G A 2: 62,074,690 (GRCm39) probably benign Het
Tab1 G T 15: 80,040,094 (GRCm39) A305S probably benign Het
Tmem30a T A 9: 79,678,576 (GRCm39) T327S probably benign Het
Tpr A C 1: 150,293,164 (GRCm39) E863A possibly damaging Het
Ush1c T A 7: 45,874,979 (GRCm39) I131F probably benign Het
Wdfy4 C A 14: 32,800,200 (GRCm39) R1975S possibly damaging Het
Zbtb18 C T 1: 177,275,501 (GRCm39) A287V probably benign Het
Zfp712 T C 13: 67,189,256 (GRCm39) T424A probably benign Het
Zfp791 G T 8: 85,838,862 (GRCm39) Y56* probably null Het
Other mutations in Upk3bl
AlleleSourceChrCoordTypePredicted EffectPPH Score
R0539:Upk3bl UTSW 5 136,092,840 (GRCm39) intron probably benign
R0554:Upk3bl UTSW 5 136,088,648 (GRCm39) missense probably damaging 1.00
R0559:Upk3bl UTSW 5 136,086,330 (GRCm39) missense probably benign 0.06
R0835:Upk3bl UTSW 5 136,086,185 (GRCm39) missense probably benign 0.00
R1881:Upk3bl UTSW 5 136,086,157 (GRCm39) missense probably benign 0.00
R4729:Upk3bl UTSW 5 136,086,247 (GRCm39) missense probably benign 0.03
R4947:Upk3bl UTSW 5 136,086,099 (GRCm39) unclassified probably benign
R5120:Upk3bl UTSW 5 136,093,045 (GRCm39) utr 3 prime probably benign
R5243:Upk3bl UTSW 5 136,088,977 (GRCm39) missense possibly damaging 0.73
R5523:Upk3bl UTSW 5 136,088,954 (GRCm39) missense probably damaging 0.98
R5824:Upk3bl UTSW 5 136,089,133 (GRCm39) nonsense probably null
R6210:Upk3bl UTSW 5 136,088,674 (GRCm39) nonsense probably null
R6229:Upk3bl UTSW 5 136,092,915 (GRCm39) splice site probably null
R9228:Upk3bl UTSW 5 136,086,076 (GRCm39) missense unknown
Predicted Primers PCR Primer
(F):5'- GTGGTGGCTCACAGTAACGGTAAG -3'
(R):5'- GAGTGGCAATCTAGCTTTTCCAGGG -3'

Sequencing Primer
(F):5'- CAGTAACGGTAAGCTAAGCCTG -3'
(R):5'- ggaggaagggagggagg -3'
Posted On 2013-04-11