Incidental Mutation 'R2655:Junb'
ID252664
Institutional Source Beutler Lab
Gene Symbol Junb
Ensembl Gene ENSMUSG00000052837
Gene Namejun B proto-oncogene
Synonyms
MMRRC Submission 040430-MU
Accession Numbers
Is this an essential gene? Essential (E-score: 1.000) question?
Stock #R2655 (G1)
Quality Score186
Status Validated
Chromosome8
Chromosomal Location84974484-84978718 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 84977508 bp
ZygosityHeterozygous
Amino Acid Change Serine to Proline at position 308 (S308P)
Ref Sequence ENSEMBL: ENSMUSP00000064680 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000005292] [ENSMUST00000064922] [ENSMUST00000109733] [ENSMUST00000109734] [ENSMUST00000164807]
Predicted Effect probably benign
Transcript: ENSMUST00000005292
SMART Domains Protein: ENSMUSP00000005292
Gene: ENSMUSG00000005161

DomainStartEndE-ValueType
Pfam:Redoxin 7 157 3.9e-20 PFAM
Pfam:AhpC-TSA 8 141 5.6e-44 PFAM
Pfam:1-cysPrx_C 161 196 8.6e-17 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000064922
AA Change: S308P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000064680
Gene: ENSMUSG00000052837
AA Change: S308P

DomainStartEndE-ValueType
Pfam:Jun 5 254 6.1e-81 PFAM
BRLZ 263 327 1.77e-15 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000109733
SMART Domains Protein: ENSMUSP00000105355
Gene: ENSMUSG00000005161

DomainStartEndE-ValueType
Pfam:Redoxin 7 159 1.3e-21 PFAM
Pfam:AhpC-TSA 8 141 1.3e-44 PFAM
Pfam:1-cysPrx_C 161 196 8.6e-17 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000109734
SMART Domains Protein: ENSMUSP00000105356
Gene: ENSMUSG00000005161

DomainStartEndE-ValueType
Pfam:Redoxin 7 159 1.3e-21 PFAM
Pfam:AhpC-TSA 8 141 1.3e-44 PFAM
Pfam:1-cysPrx_C 161 196 8.6e-17 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000127215
Predicted Effect probably benign
Transcript: ENSMUST00000164807
SMART Domains Protein: ENSMUSP00000126451
Gene: ENSMUSG00000005161

DomainStartEndE-ValueType
Pfam:Redoxin 7 159 1.3e-21 PFAM
Pfam:AhpC-TSA 8 141 1.3e-44 PFAM
Pfam:1-cysPrx_C 161 196 8.6e-17 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000209372
Meta Mutation Damage Score 0.324 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.2%
  • 20x: 95.0%
Validation Efficiency 100% (39/39)
MGI Phenotype PHENOTYPE: Homozygous null mutants die between embryonic day 8.5-10 due to impaired placental development. Embryos are severely growth retarded, but cell proliferation is normal, reflecting a failure to establish vascular interactions with the maternal circulation. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 39 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acot5 T A 12: 84,075,876 S411R probably benign Het
Adamts12 A T 15: 11,065,088 N20Y possibly damaging Het
Bbs9 G A 9: 22,504,052 E91K probably damaging Het
Casp4 C A 9: 5,322,894 L57I possibly damaging Het
Cat T C 2: 103,471,846 K169E probably damaging Het
Cav1 A G 6: 17,339,360 Y148C probably damaging Het
Cep112 T C 11: 108,437,201 probably benign Het
Chaf1b T C 16: 93,891,511 S165P probably damaging Het
Crat A G 2: 30,402,691 S115P probably damaging Het
Eif2b1 A G 5: 124,576,854 S120P probably damaging Het
Epor A G 9: 21,960,720 S236P probably damaging Het
Ggt1 T A 10: 75,581,385 Y5* probably null Het
Igfbpl1 T C 4: 45,816,289 T179A probably damaging Het
Ighv14-4 T G 12: 114,176,448 Y114S probably damaging Het
Ipcef1 T C 10: 6,979,657 I29V probably benign Het
Kcnh5 T C 12: 75,114,540 E198G probably damaging Het
Ltbp1 G A 17: 75,005,983 R33H possibly damaging Het
Map3k20 C A 2: 72,433,420 T471K probably damaging Het
Nr2c2 C T 6: 92,163,138 R464W probably damaging Het
Olfr642 T C 7: 104,049,431 M308V probably benign Het
Olfr955 A T 9: 39,470,628 S33T probably benign Het
Patj T C 4: 98,437,450 V508A possibly damaging Het
Pkd1 T C 17: 24,576,490 V2319A probably damaging Het
Pnpla7 A G 2: 25,052,318 Y83C probably damaging Het
Prb1 G C 6: 132,210,462 Q19E unknown Het
Rasa3 T C 8: 13,595,373 T189A possibly damaging Het
Reck T A 4: 43,938,966 D777E probably benign Het
Rfx6 A G 10: 51,693,777 probably benign Het
Serpinb13 A G 1: 107,000,427 D259G probably damaging Het
Slit2 G A 5: 48,189,575 R253Q possibly damaging Het
Slu7 A G 11: 43,440,648 E203G probably benign Het
Syt4 A T 18: 31,443,544 D252E probably benign Het
Tpte A G 8: 22,311,278 probably null Het
Ttc25 T A 11: 100,553,579 W237R probably damaging Het
Ttll7 A G 3: 146,947,621 Y729C probably damaging Het
Usp35 T A 7: 97,312,147 T691S probably benign Het
Vmn1r211 A G 13: 22,852,416 V27A probably benign Het
Vmn2r72 T C 7: 85,751,269 T191A possibly damaging Het
Vwa5b1 C T 4: 138,594,303 G393D probably damaging Het
Other mutations in Junb
AlleleSourceChrCoordTypePredicted EffectPPH Score
R0032:Junb UTSW 8 84977786 missense probably benign 0.45
R0347:Junb UTSW 8 84978478 unclassified probably benign
R1219:Junb UTSW 8 84977639 missense probably damaging 1.00
R1513:Junb UTSW 8 84978129 missense probably damaging 1.00
R1628:Junb UTSW 8 84978410 missense possibly damaging 0.93
R4484:Junb UTSW 8 84977888 missense possibly damaging 0.76
R4718:Junb UTSW 8 84978432 unclassified probably benign
R4965:Junb UTSW 8 84978159 missense probably damaging 1.00
R5916:Junb UTSW 8 84977876 missense probably benign 0.00
R6262:Junb UTSW 8 84977730 missense possibly damaging 0.83
R6899:Junb UTSW 8 84977724 missense probably benign 0.00
R7355:Junb UTSW 8 84978384 missense probably benign
Predicted Primers PCR Primer
(F):5'- CTCCACAGTACTATGCAGAGGG -3'
(R):5'- TTTAAAGAGGAACCGCAGACC -3'

Sequencing Primer
(F):5'- AGGGGGCCATGTAAACCTC -3'
(R):5'- GAGGAACCGCAGACCGTACC -3'
Posted On2014-12-04