Mutagenetix > Incidental Mutation

Incidental Mutation 'R1219:Junb'

99927

Institutional Source

Beutler Lab

Gene Symbol

Junb

Ensembl Gene

ENSMUSG00000052837

Gene Name

jun B proto-oncogene

Synonyms

MMRRC Submission

039288-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R1219 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

85703538-85705377 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 85704268 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Glycine at position 264 (E264G)

Ref Sequence

ENSEMBL: ENSMUSP00000064680 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000005292] [ENSMUST00000064922] [ENSMUST00000109733] [ENSMUST00000109734] [ENSMUST00000164807]

AlphaFold

P09450

Predicted Effect

probably benign
Transcript: ENSMUST00000005292

SMART Domains

Protein: ENSMUSP00000005292
Gene: ENSMUSG00000005161

Domain	Start	End	E-Value	Type
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: E264G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000064680
Gene: ENSMUSG00000052837
AA Change: E264G

Domain	Start	End	E-Value	Type
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

Domain	Start	End	E-Value	Type
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

Domain	Start	End	E-Value	Type
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

Domain	Start	End	E-Value	Type
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

0.4355

Coding Region Coverage

1x: 99.3%
3x: 98.6%
10x: 97.0%
20x: 94.8%

Validation Efficiency

98% (44/45)

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: 43 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Atad2	A	G	15: 57,998,307 (GRCm39)	S22P	probably benign	Het
Atrn	A	T	2: 130,862,927 (GRCm39)	T1336S	possibly damaging	Het
Bltp1	T	A	3: 37,000,619 (GRCm39)	L1266*	probably null	Het
Car9	G	T	4: 43,512,439 (GRCm39)		probably null	Het
Ccdc113	T	C	8: 96,264,895 (GRCm39)		probably benign	Het
Ccdc158	A	G	5: 92,802,040 (GRCm39)		probably benign	Het
Ciao3	T	C	17: 25,994,075 (GRCm39)	I41T	probably damaging	Het
Dcun1d3	G	T	7: 119,458,631 (GRCm39)	Q135K	probably damaging	Het
Dnah7b	A	C	1: 46,379,280 (GRCm39)	E3671D	probably benign	Het
Eea1	A	G	10: 95,846,623 (GRCm39)		probably benign	Het
Entrep3	T	C	3: 89,091,155 (GRCm39)	V42A	probably damaging	Het
Gdf10	G	A	14: 33,654,710 (GRCm39)	A406T	probably benign	Het
Gm5111	A	G	6: 48,567,328 (GRCm39)		probably benign	Het
Golga3	G	T	5: 110,332,215 (GRCm39)	E50*	probably null	Het
Kash5	A	G	7: 44,838,832 (GRCm39)		probably benign	Het
Kifc1	G	A	17: 34,103,685 (GRCm39)	R195C	probably benign	Het
Krt18	T	C	15: 101,939,723 (GRCm39)		probably benign	Het
Man1a	G	A	10: 53,795,249 (GRCm39)		probably benign	Het
Mapkbp1	G	T	2: 119,849,831 (GRCm39)	G768*	probably null	Het
Mybpc2	A	C	7: 44,165,458 (GRCm39)		probably null	Het
Nectin3	A	T	16: 46,275,042 (GRCm39)	C238*	probably null	Het
Ntf3	G	T	6: 126,079,174 (GRCm39)	R98S	possibly damaging	Het
Nup153	T	G	13: 46,840,695 (GRCm39)	Q971P	probably benign	Het
Nup155	A	G	15: 8,146,822 (GRCm39)	T221A	possibly damaging	Het
Ppp2r1b	T	C	9: 50,778,621 (GRCm39)		probably benign	Het
Prkd1	A	T	12: 50,435,125 (GRCm39)	V534E	probably damaging	Het
Rabep2	A	G	7: 126,028,799 (GRCm39)	E26G	probably damaging	Het
Rnf213	C	A	11: 119,327,003 (GRCm39)	N1663K	probably damaging	Het
Slc1a1	G	A	19: 28,882,146 (GRCm39)		probably benign	Het
Slc36a4	T	C	9: 15,634,832 (GRCm39)	Y125H	probably damaging	Het
Slc6a11	G	A	6: 114,202,772 (GRCm39)		probably benign	Het
Stab1	C	T	14: 30,862,578 (GRCm39)		probably null	Het
Sumf2	G	T	5: 129,883,613 (GRCm39)	A164S	probably benign	Het
Sv2b	T	C	7: 74,786,160 (GRCm39)	D420G	probably benign	Het
Ube2v1	T	C	2: 167,459,831 (GRCm39)	D56G	probably benign	Het
Ung	A	G	5: 114,270,228 (GRCm39)		probably benign	Het
Vcan	T	C	13: 89,828,023 (GRCm39)	Y2181C	probably damaging	Het
Vmn1r238	G	A	18: 3,123,135 (GRCm39)	T93I	possibly damaging	Het
Vmn2r14	A	C	5: 109,372,440 (GRCm39)	S17A	probably benign	Het
Vmn2r25	A	G	6: 123,816,282 (GRCm39)	V433A	probably benign	Het
Zfp36l2	A	G	17: 84,495,070 (GRCm39)		probably null	Het
Zfp646	G	A	7: 127,482,292 (GRCm39)	G1490S	probably benign	Het
Zfp839	A	G	12: 110,834,707 (GRCm39)	D654G	possibly damaging	Het

Other mutations in Junb

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
R0032:Junb	UTSW	8	85,704,415 (GRCm39)	missense	probably benign	0.45
R0347:Junb	UTSW	8	85,705,107 (GRCm39)	unclassified	probably benign
R1513:Junb	UTSW	8	85,704,758 (GRCm39)	missense	probably damaging	1.00
R1628:Junb	UTSW	8	85,705,039 (GRCm39)	missense	possibly damaging	0.93
R2655:Junb	UTSW	8	85,704,137 (GRCm39)	missense	probably damaging	1.00
R4484:Junb	UTSW	8	85,704,517 (GRCm39)	missense	possibly damaging	0.76
R4718:Junb	UTSW	8	85,705,061 (GRCm39)	unclassified	probably benign
R4965:Junb	UTSW	8	85,704,788 (GRCm39)	missense	probably damaging	1.00
R5916:Junb	UTSW	8	85,704,505 (GRCm39)	missense	probably benign	0.00
R6262:Junb	UTSW	8	85,704,359 (GRCm39)	missense	possibly damaging	0.83
R6899:Junb	UTSW	8	85,704,353 (GRCm39)	missense	probably benign	0.00
R7355:Junb	UTSW	8	85,705,013 (GRCm39)	missense	probably benign
R7586:Junb	UTSW	8	85,704,802 (GRCm39)	missense	probably damaging	0.99
R8274:Junb	UTSW	8	85,705,058 (GRCm39)	start codon destroyed	possibly damaging	0.75
R9116:Junb	UTSW	8	85,704,052 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- TTGACCCCTAGCAGCAACTGGC -3'
(R):5'- TGGACGACCTGCACAAGATGAAC -3'

Sequencing Primer
(F):5'- AGCCGTTGCTGACATGGG -3'
(R):5'- CTCAGCAGTTACTCCCCAG -3'

Posted On

2014-01-15